psui3905/ncbi_genes_summary huggingface dataset:
KRTAP4-1, Official Symbol KRTAP4-1provided by HGNC Official Full Name keratin associated protein 4-1provided by HGNC Primary source HGNC:HGNC:18907 See related Ensembl:ENSG00000198443 AllianceGenome:HGNC:18907 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KAP4.1; KAP4.10; KRTAP4-10; KRTAP4.10 Summary This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] Annotation information Annotation category: suggests misassembly Expression Low expression observed in reference dataset See more Orthologs all
KRTAP4-11, Official Symbol KRTAP4-11provided by HGNC Official Full Name keratin associated protein 4-11provided by HGNC Primary source HGNC:HGNC:18911 See related Ensembl:ENSG00000212721 AllianceGenome:HGNC:18911 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KAP4.11; KAP4.14; KRTAP4-14; KRTAP4.14 Summary This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Mar 2009]
KRTAP4-12, Official Symbol KRTAP4-12provided by HGNC Official Full Name keratin associated protein 4-12provided by HGNC Primary source HGNC:HGNC:16776 See related Ensembl:ENSG00000213416 AllianceGenome:HGNC:16776 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KAP4.12; KRTAP4.12 Summary This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]
KRTAP4-16, Official Symbol KRTAP4-16provided by HGNC Official Full Name keratin associated protein 4-16provided by HGNC Primary source HGNC:HGNC:18921 See related Ensembl:ENSG00000241241 AllianceGenome:HGNC:18921 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KAP4A; KRTAP4P1; KRTAP4-16P Summary Predicted to be located in keratin filament. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
KRTAP4-17P, Official Symbol KRTAP4-17Pprovided by HGNC Official Full Name keratin associated protein 4-17, pseudogeneprovided by HGNC Primary source HGNC:HGNC:53814 See related AllianceGenome:HGNC:53814 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KRTAP4p3
KRTAP4-2, Official Symbol KRTAP4-2provided by HGNC Official Full Name keratin associated protein 4-2provided by HGNC Primary source HGNC:HGNC:18900 See related Ensembl:ENSG00000244537 AllianceGenome:HGNC:18900 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KAP4.2; KRTAP4.2 Summary This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] Orthologs all
KRTAP4-3, Official Symbol KRTAP4-3provided by HGNC Official Full Name keratin associated protein 4-3provided by HGNC Primary source HGNC:HGNC:18908 See related Ensembl:ENSG00000196156 AllianceGenome:HGNC:18908 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KAP4.3 Summary Involved in aging and hair cycle. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
KRTAP4-4, Official Symbol KRTAP4-4provided by HGNC Official Full Name keratin associated protein 4-4provided by HGNC Primary source HGNC:HGNC:16928 See related Ensembl:ENSG00000171396 AllianceGenome:HGNC:16928 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KAP4.4; KAP4.13; KRTAP4.4; KRTAP4-13; KRTAP4.13 Summary This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] Orthologs all
KRTAP4-5, Official Symbol KRTAP4-5provided by HGNC Official Full Name keratin associated protein 4-5provided by HGNC Primary source HGNC:HGNC:18899 See related Ensembl:ENSG00000198271 AllianceGenome:HGNC:18899 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KAP4.5; KRTAP4.5 Summary This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] Orthologs all
KRTAP4-6, Official Symbol KRTAP4-6provided by HGNC Official Full Name keratin associated protein 4-6provided by HGNC Primary source HGNC:HGNC:18909 See related Ensembl:ENSG00000198090 AllianceGenome:HGNC:18909 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KAP4.6; KAP4.15; KRTAP4-15; KRTAP4.15 Summary Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
KRTAP4-7, Official Symbol KRTAP4-7provided by HGNC Official Full Name keratin associated protein 4-7provided by HGNC Primary source HGNC:HGNC:18898 See related Ensembl:ENSG00000240871 AllianceGenome:HGNC:18898 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KAP4.7; KRTAP4.7 Summary This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Mar 2009] Orthologs all
KRTAP4-8, Official Symbol KRTAP4-8provided by HGNC Official Full Name keratin associated protein 4-8provided by HGNC Primary source HGNC:HGNC:17230 See related Ensembl:ENSG00000204880 AllianceGenome:HGNC:17230 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KAP4.8; KRTAP4.8 Summary Involved in aging and hair cycle. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
KRTAP4-9, Official Symbol KRTAP4-9provided by HGNC Official Full Name keratin associated protein 4-9provided by HGNC Primary source HGNC:HGNC:18910 See related Ensembl:ENSG00000212722 AllianceGenome:HGNC:18910 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KAP4.9 Summary Involved in aging and hair cycle. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
KRTAP5-1, Official Symbol KRTAP5-1provided by HGNC Official Full Name keratin associated protein 5-1provided by HGNC Primary source HGNC:HGNC:23596 See related Ensembl:ENSG00000205869 MIM:148022; AllianceGenome:HGNC:23596 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KRN1L; KRTAP5.1 Summary Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
KRTAP5-10, Official Symbol KRTAP5-10provided by HGNC Official Full Name keratin associated protein 5-10provided by HGNC Primary source HGNC:HGNC:23605 See related Ensembl:ENSG00000204572 AllianceGenome:HGNC:23605 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KRTAP5.10 Summary Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
KRTAP5-11, Official Symbol KRTAP5-11provided by HGNC Official Full Name keratin associated protein 5-11provided by HGNC Primary source HGNC:HGNC:23606 See related Ensembl:ENSG00000204571 AllianceGenome:HGNC:23606 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KRTAP5-5; KRTAP5-6; KRTAP5.11 Summary Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
KRTAP5-2, Official Symbol KRTAP5-2provided by HGNC Official Full Name keratin associated protein 5-2provided by HGNC Primary source HGNC:HGNC:23597 See related Ensembl:ENSG00000205867 AllianceGenome:HGNC:23597 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KRTAP5-8; KRTAP5.2 Summary Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
KRTAP5-3, Official Symbol KRTAP5-3provided by HGNC Official Full Name keratin associated protein 5-3provided by HGNC Primary source HGNC:HGNC:23598 See related Ensembl:ENSG00000196224 AllianceGenome:HGNC:23598 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KRTAP5-9; KRTAP5.3 Summary Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
KRTAP5-4, Official Symbol KRTAP5-4provided by HGNC Official Full Name keratin associated protein 5-4provided by HGNC Primary source HGNC:HGNC:23599 See related Ensembl:ENSG00000241598 AllianceGenome:HGNC:23599 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KRTAP5.4 Summary Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
KRTAP5-5, Official Symbol KRTAP5-5provided by HGNC Official Full Name keratin associated protein 5-5provided by HGNC Primary source HGNC:HGNC:23601 See related Ensembl:ENSG00000185940 AllianceGenome:HGNC:23601 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KRTAP5.5; KRTAP5-11 Summary Predicted to act upstream of or within hematopoietic progenitor cell differentiation. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
KRTAP5-6, Official Symbol KRTAP5-6provided by HGNC Official Full Name keratin associated protein 5-6provided by HGNC Primary source HGNC:HGNC:23600 See related Ensembl:ENSG00000205864 AllianceGenome:HGNC:23600 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KRTAP5.6 Summary Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
KRTAP5-7, Official Symbol KRTAP5-7provided by HGNC Official Full Name keratin associated protein 5-7provided by HGNC Primary source HGNC:HGNC:23602 See related Ensembl:ENSG00000244411 AllianceGenome:HGNC:23602 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KRTAP5-3; KRTAP5.7 Summary Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
KRTAP5-8, Official Symbol KRTAP5-8provided by HGNC Official Full Name keratin associated protein 5-8provided by HGNC Primary source HGNC:HGNC:23603 See related Ensembl:ENSG00000241233 AllianceGenome:HGNC:23603 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as UHSKerB; KRTAP5-2; KRTAP5.8 Summary Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
KRTAP5-9, Official Symbol KRTAP5-9provided by HGNC Official Full Name keratin associated protein 5-9provided by HGNC Primary source HGNC:HGNC:23604 See related Ensembl:ENSG00000254997 MIM:148021; AllianceGenome:HGNC:23604 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KRN1; KRTAP5-1; KRTAP5.9 Summary Enables identical protein binding activity. Predicted to be involved in epidermis development. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
KRTAP5-AS1, Official Symbol KRTAP5-AS1provided by HGNC Official Full Name KRTAP5-1/KRTAP5-2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:27877 See related Ensembl:ENSG00000233930 AllianceGenome:HGNC:27877 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in brain (RPKM 3.1), colon (RPKM 1.1) and 10 other tissues See more
KRTAP6-1, Official Symbol KRTAP6-1provided by HGNC Official Full Name keratin associated protein 6-1provided by HGNC Primary source HGNC:HGNC:18931 See related Ensembl:ENSG00000184724 AllianceGenome:HGNC:18931 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KAP6.1; C21orf103 Summary Predicted to be involved in keratinization. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
KRTAP6-2, Official Symbol KRTAP6-2provided by HGNC Official Full Name keratin associated protein 6-2provided by HGNC Primary source HGNC:HGNC:18932 See related Ensembl:ENSG00000186930 AllianceGenome:HGNC:18932 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KAP6.2 Summary Enables identical protein binding activity. Predicted to be involved in keratinization. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
KRTAP6-3, Official Symbol KRTAP6-3provided by HGNC Official Full Name keratin associated protein 6-3provided by HGNC Primary source HGNC:HGNC:18933 See related Ensembl:ENSG00000212938 AllianceGenome:HGNC:18933 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KAP6.3 Summary Predicted to be involved in keratinization. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
KRTAP7-1, Official Symbol KRTAP7-1provided by HGNC Official Full Name keratin associated protein 7-1provided by HGNC Primary source HGNC:HGNC:18934 See related Ensembl:ENSG00000274749 AllianceGenome:HGNC:18934 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KAP7.1 Summary Predicted to be located in intermediate filament. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene. Orthologs mouse all
KRTAP8-1, Official Symbol KRTAP8-1provided by HGNC Official Full Name keratin associated protein 8-1provided by HGNC Primary source HGNC:HGNC:18935 See related Ensembl:ENSG00000183640 AllianceGenome:HGNC:18935 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KAP8.1 Summary Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
KRTAP9-1, Official Symbol KRTAP9-1provided by HGNC Official Full Name keratin associated protein 9-1provided by HGNC Primary source HGNC:HGNC:18912 See related Ensembl:ENSG00000240542 AllianceGenome:HGNC:18912 Gene type protein coding RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KAP9.1; KRTAP9L3 Summary Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
KRTAP9-10P, Official Symbol KRTAP9-10Pprovided by HGNC Official Full Name keratin associated protein 9-10, pseudogeneprovided by HGNC Primary source HGNC:HGNC:34210 See related Ensembl:ENSG00000237183 AllianceGenome:HGNC:34210 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
KRTAP9-2, Official Symbol KRTAP9-2provided by HGNC Official Full Name keratin associated protein 9-2provided by HGNC Primary source HGNC:HGNC:16926 See related Ensembl:ENSG00000239886 AllianceGenome:HGNC:16926 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KAP9.2; KRTAP9.2 Summary This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] Orthologs all
KRTAP9-3, Official Symbol KRTAP9-3provided by HGNC Official Full Name keratin associated protein 9-3provided by HGNC Primary source HGNC:HGNC:16927 See related Ensembl:ENSG00000204873 AllianceGenome:HGNC:16927 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KAP9.3; KRTAP9.3 Summary This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] Orthologs all
KRTAP9-4, Official Symbol KRTAP9-4provided by HGNC Official Full Name keratin associated protein 9-4provided by HGNC Primary source HGNC:HGNC:18902 See related Ensembl:ENSG00000241595 AllianceGenome:HGNC:18902 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KAP9.4; KRTAP9.4 Summary This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] Orthologs all
KRTAP9-6, Official Symbol KRTAP9-6provided by HGNC Official Full Name keratin associated protein 9-6provided by HGNC Primary source HGNC:HGNC:18914 See related Ensembl:ENSG00000212659 AllianceGenome:HGNC:18914 Gene type protein coding RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KAP9.6; KRTAP9.6; KRTAP9L2 Summary Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
KRTAP9-7, Official Symbol KRTAP9-7provided by HGNC Official Full Name keratin associated protein 9-7provided by HGNC Primary source HGNC:HGNC:18915 See related Ensembl:ENSG00000180386 AllianceGenome:HGNC:18915 Gene type protein coding RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KAP9.7; KRTAP9L1 Summary Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
KRTAP9-8, Official Symbol KRTAP9-8provided by HGNC Official Full Name keratin associated protein 9-8provided by HGNC Primary source HGNC:HGNC:17231 See related Ensembl:ENSG00000187272 AllianceGenome:HGNC:17231 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KAP9.8; KRTAP9.8 Summary This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]
KRTAP9-9, Official Symbol KRTAP9-9provided by HGNC Official Full Name keratin associated protein 9-9provided by HGNC Primary source HGNC:HGNC:16773 See related Ensembl:ENSG00000198083 AllianceGenome:HGNC:16773 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KAP9.5; KAP9.9; KRTAP9-5; KRTAP9.9 Summary This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. Alternative haplotypes of this gene are represented in the GRCh38 reference genome assembly. [provided by RefSeq, Dec 2015]
KRTCAP2, Official Symbol KRTCAP2provided by HGNC Official Full Name keratinocyte associated protein 2provided by HGNC Primary source HGNC:HGNC:28942 See related Ensembl:ENSG00000163463 MIM:619029; AllianceGenome:HGNC:28942 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KCP2 Summary Enables enzyme activator activity. Involved in protein N-linked glycosylation via arginine. Is active in oligosaccharyltransferase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 48.6), fat (RPKM 46.3) and 25 other tissues See more Orthologs mouse all
KRTCAP2P1, Official Symbol KRTCAP2P1provided by HGNC Official Full Name KRTCAP2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:54589 See related AllianceGenome:HGNC:54589 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
KRTCAP3, Official Symbol KRTCAP3provided by HGNC Official Full Name keratinocyte associated protein 3provided by HGNC Primary source HGNC:HGNC:28943 See related Ensembl:ENSG00000157992 MIM:619261; AllianceGenome:HGNC:28943 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KCP3 Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in colon (RPKM 15.6), small intestine (RPKM 13.3) and 22 other tissues See more Orthologs mouse all
KRTDAP, Official Symbol KRTDAPprovided by HGNC Official Full Name keratinocyte differentiation associated proteinprovided by HGNC Primary source HGNC:HGNC:16313 See related Ensembl:ENSG00000188508 MIM:617212; AllianceGenome:HGNC:16313 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KDAP; UNQ467 Summary This gene encodes a protein which may function in the regulation of keratinocyte differentiation and maintenance of stratified epithelia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Expression Restricted expression toward skin (RPKM 815.2) See more Orthologs mouse all
KSR1, Official Symbol KSR1provided by HGNC Official Full Name kinase suppressor of ras 1provided by HGNC Primary source HGNC:HGNC:6465 See related Ensembl:ENSG00000141068 MIM:601132; AllianceGenome:HGNC:6465 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KSR; RSU2 Summary Enables 14-3-3 protein binding activity; ATP binding activity; and protein C-terminus binding activity. Involved in positive regulation of MAPK cascade. Located in endoplasmic reticulum and membrane. Part of protein-containing complex. Implicated in breast adenocarcinoma. Biomarker of breast cancer. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in placenta (RPKM 8.2), endometrium (RPKM 5.8) and 23 other tissues See more Orthologs mouse all
KSR2, Official Symbol KSR2provided by HGNC Official Full Name kinase suppressor of ras 2provided by HGNC Primary source HGNC:HGNC:18610 See related Ensembl:ENSG00000171435 MIM:610737; AllianceGenome:HGNC:18610 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable MAP-kinase scaffold activity; mitogen-activated protein kinase kinase binding activity; and protein kinase activity. Predicted to be involved in Ras protein signal transduction; calcium-mediated signaling; and positive regulation of cold-induced thermogenesis. Predicted to act upstream of or within positive regulation of MAPK cascade. Predicted to be active in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 1.7), adrenal (RPKM 0.5) and 7 other tissues See more Orthologs mouse all
KTI12, Official Symbol KTI12provided by HGNC Official Full Name KTI12 chromatin associated homologprovided by HGNC Primary source HGNC:HGNC:25160 See related Ensembl:ENSG00000198841 AllianceGenome:HGNC:25160 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TOT4; SBBI81 Summary Predicted to enable ATP binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II and tRNA wobble uridine modification. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
KTN1, Official Symbol KTN1provided by HGNC Official Full Name kinectin 1provided by HGNC Primary source HGNC:HGNC:6467 See related Ensembl:ENSG00000126777 MIM:600381; AllianceGenome:HGNC:6467 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CG1; KNT; MU-RMS-40.19 Summary This gene encodes an integral membrane protein that is a member of the kinectin protein family. The encoded protein is primarily localized to the endoplasmic reticulum membrane. This protein binds kinesin and may be involved in intracellular organelle motility. This protein also binds translation elongation factor-delta and may be involved in the assembly of the elongation factor-1 complex. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Aug 2012] Expression Ubiquitous expression in testis (RPKM 35.7), thyroid (RPKM 26.9) and 25 other tissues See more Orthologs mouse all
KTN1-AS1, Official Symbol KTN1-AS1provided by HGNC Official Full Name KTN1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:19842 See related Ensembl:ENSG00000186615 AllianceGenome:HGNC:19842 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MYCLo-3; C14orf33 Expression Low expression observed in reference dataset See more
KU-MEL-3, Gene symbol KU-MEL-3 Gene description uncharacterized LOC497048 See related Ensembl:ENSG00000205444 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
KXD1, Official Symbol KXD1provided by HGNC Official Full Name KxDL motif containing 1provided by HGNC Primary source HGNC:HGNC:28420 See related Ensembl:ENSG00000105700 MIM:615178; AllianceGenome:HGNC:28420 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KXDL; BORCS4; MST096; MSTP096; C10orf50; C19orf50 Summary Involved in lysosome localization. Part of BORC complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 13.1), placenta (RPKM 13.1) and 25 other tissues See more Orthologs mouse all
KY, Official Symbol KYprovided by HGNC Official Full Name kyphoscoliosis peptidaseprovided by HGNC Primary source HGNC:HGNC:26576 See related Ensembl:ENSG00000174611 MIM:605739; AllianceGenome:HGNC:26576 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MFM7 Summary The protein encoded by this gene belongs to the transglutaminase-like superfamily. The protein is involved in the function, maturation and stabilization of the neuromuscular junction and may be required for normal muscle growth. Mutations in this gene are associated with myopathy, myofibrillar, 7. [provided by RefSeq, Apr 2017] Expression Biased expression in skin (RPKM 2.4), prostate (RPKM 1.2) and 12 other tissues See more Orthologs mouse all
KYAT1, Official Symbol KYAT1provided by HGNC Official Full Name kynurenine aminotransferase 1provided by HGNC Primary source HGNC:HGNC:1564 See related Ensembl:ENSG00000171097 MIM:600547; AllianceGenome:HGNC:1564 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GTK; KAT1; KATI; CCBL1 Summary This gene encodes a cytosolic enzyme that is responsible for the metabolism of cysteine conjugates of certain halogenated alkenes and alkanes. This metabolism can form reactive metabolites leading to nephrotoxicity and neurotoxicity. Increased levels of this enzyme have been linked to schizophrenia. Multiple transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 2.6), skin (RPKM 1.9) and 25 other tissues See more Orthologs mouse all
KYAT3, Official Symbol KYAT3provided by HGNC Official Full Name kynurenine aminotransferase 3provided by HGNC Primary source HGNC:HGNC:33238 See related Ensembl:ENSG00000137944 MIM:610656; AllianceGenome:HGNC:33238 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KAT3; CCBL2; KATIII Summary This gene encodes an aminotransferase that transaminates kynurenine to form kynurenic acid, which is a metabolite of tryptophan. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene. This gene shares 5' exon structure with the RNA binding motif protein, X-linked-like 1 locus on chromosome 1, but the coding sequences are non-overlapping. [provided by RefSeq, Mar 2017] Expression Ubiquitous expression in thyroid (RPKM 13.7), esophagus (RPKM 12.5) and 25 other tissues See more Orthologs mouse all
KYNU, Official Symbol KYNUprovided by HGNC Official Full Name kynureninaseprovided by HGNC Primary source HGNC:HGNC:6469 See related Ensembl:ENSG00000115919 MIM:605197; AllianceGenome:HGNC:6469 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KYNUU; VCRL2 Summary Kynureninase is a pyridoxal-5'-phosphate (pyridoxal-P) dependent enzyme that catalyzes the cleavage of L-kynurenine and L-3-hydroxykynurenine into anthranilic and 3-hydroxyanthranilic acids, respectively. Kynureninase is involved in the biosynthesis of NAD cofactors from tryptophan through the kynurenine pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010] Expression Broad expression in liver (RPKM 2.5), urinary bladder (RPKM 1.8) and 14 other tissues See more Orthologs mouse all
L1CAM, Official Symbol L1CAMprovided by HGNC Official Full Name L1 cell adhesion moleculeprovided by HGNC Primary source HGNC:HGNC:6470 See related Ensembl:ENSG00000198910 MIM:308840; AllianceGenome:HGNC:6470 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as S10; HSAS; HYCX; MASA; MIC5; SPG1; CAML1; CD171; HSAS1; N-CAML1; NCAM-L1; N-CAM-L1 Summary The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an important role in nervous system development, including neuronal migration and differentiation. Mutations in the gene cause X-linked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of this gene results in multiple transcript variants, some of which include an alternate exon that is considered to be specific to neurons. [provided by RefSeq, May 2013] Expression Biased expression in brain (RPKM 23.7), adrenal (RPKM 13.5) and 9 other tissues See more Orthologs mouse all
L1TD1, Official Symbol L1TD1provided by HGNC Official Full Name LINE1 type transposase domain containing 1provided by HGNC Primary source HGNC:HGNC:25595 See related Ensembl:ENSG00000240563 AllianceGenome:HGNC:25595 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ECAT11 Summary Predicted to enable single-stranded RNA binding activity. Predicted to be involved in transposition, RNA-mediated. Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in placenta (RPKM 6.2), testis (RPKM 4.7) and 4 other tissues See more Orthologs mouse all
L2HGDH, Official Symbol L2HGDHprovided by HGNC Official Full Name L-2-hydroxyglutarate dehydrogenaseprovided by HGNC Primary source HGNC:HGNC:20499 See related Ensembl:ENSG00000087299 MIM:609584; AllianceGenome:HGNC:20499 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as L2HGA; C14orf160 Summary This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe cognitive disability. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 5.2), fat (RPKM 1.8) and 25 other tissues See more Orthologs mouse all
L3HYPDH, Official Symbol L3HYPDHprovided by HGNC Official Full Name trans-L-3-hydroxyproline dehydrataseprovided by HGNC Primary source HGNC:HGNC:20488 See related Ensembl:ENSG00000126790 MIM:614811; AllianceGenome:HGNC:20488 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C14orf149 Summary The protein encoded by this gene is a dehydratase that converts trans-3-hydroxy-L-proline to delta(1)-pyrroline-2-carboxylate. This enzyme may function to degrade dietary proteins that contain trans-3-hydroxy-L-proline as well as other proteins such as collagen IV. The encoded protein can be converted to an epimerase by changing a threonine to a cysteine at a catalytic site. [provided by RefSeq, Sep 2016] Expression Ubiquitous expression in testis (RPKM 6.0), prostate (RPKM 5.0) and 25 other tissues See more Orthologs mouse all
L3MBTL1, Official Symbol L3MBTL1provided by HGNC Official Full Name L3MBTL histone methyl-lysine binding protein 1provided by HGNC Primary source HGNC:HGNC:15905 See related Ensembl:ENSG00000185513 MIM:608802; AllianceGenome:HGNC:15905 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as L3MBTL; ZC2HC3; H-L(3)MBT; dJ138B7.3 Summary This gene represents a polycomb group gene. The encoded protein functions to regulate gene activity, likely via chromatin modification. The encoded protein may also be necessary for mitosis. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010] Expression Broad expression in testis (RPKM 4.3), brain (RPKM 2.6) and 23 other tissues See more Orthologs mouse all
L3MBTL2, Official Symbol L3MBTL2provided by HGNC Official Full Name L3MBTL histone methyl-lysine binding protein 2provided by HGNC Primary source HGNC:HGNC:18594 See related Ensembl:ENSG00000100395 MIM:611865; AllianceGenome:HGNC:18594 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as L3MBT; H-l(3)mbt-l Summary Enables methylated histone binding activity. Predicted to be involved in negative regulation of transcription, DNA-templated. Predicted to act upstream of or within several processes, including ectoderm development; regulation of histone modification; and stem cell proliferation. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 7.9), testis (RPKM 7.9) and 25 other tissues See more Orthologs mouse all
L3MBTL3, Official Symbol L3MBTL3provided by HGNC Official Full Name L3MBTL histone methyl-lysine binding protein 3provided by HGNC Primary source HGNC:HGNC:23035 See related Ensembl:ENSG00000198945 MIM:618844; AllianceGenome:HGNC:23035 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MBT1; MBT-1 Summary This gene encodes a member of the malignant brain tumor (MBT) family of chromatin interacting transcriptional repressors. Members of this family function as methyl-lysine readers, which recognize methylated lysine residues on histone protein tails, and are associated with the repression of gene expression. The encoded protein may regulate hematopoiesis. Homozygous deletion of this gene has been observed in human patients with medulloblastoma. [provided by RefSeq, Oct 2016] Expression Ubiquitous expression in endometrium (RPKM 5.0), spleen (RPKM 4.6) and 24 other tissues See more Orthologs mouse all