psui3905/ncbi_genes_summary huggingface dataset:
MIRLET7B, Official Symbol MIRLET7Bprovided by HGNC Official Full Name microRNA let-7bprovided by HGNC Primary source HGNC:HGNC:31479 See related Ensembl:ENSG00000284520 MIM:611249; miRBase:MI0000063; AllianceGenome:HGNC:31479 Gene type ncRNA RefSeq status PROVISIONAL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LET7B; let-7b; MIRNLET7B; hsa-let-7b Summary microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIRLET7BHG, Official Symbol MIRLET7BHGprovided by HGNC Official Full Name MIRLET7B host geneprovided by HGNC Primary source HGNC:HGNC:37189 See related Ensembl:ENSG00000197182 MIM:618216; AllianceGenome:HGNC:37189 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 linc-Ppara Expression Biased expression in skin (RPKM 5.0), placenta (RPKM 2.2) and 12 other tissues See more Orthologs mouse all
MIRLET7C, Official Symbol MIRLET7Cprovided by HGNC Official Full Name microRNA let-7cprovided by HGNC Primary source HGNC:HGNC:31480 See related Ensembl:ENSG00000199030 MIM:612144; miRBase:MI0000064; AllianceGenome:HGNC:31480 Gene type ncRNA RefSeq status PROVISIONAL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LET7C; let-7c; MIRNLET7C; hsa-let-7c Summary microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIRLET7D, Official Symbol MIRLET7Dprovided by HGNC Official Full Name microRNA let-7dprovided by HGNC Primary source HGNC:HGNC:31481 See related Ensembl:ENSG00000199133 MIM:612145; miRBase:MI0000065; AllianceGenome:HGNC:31481 Gene type ncRNA RefSeq status PROVISIONAL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LET7D; let-7d; MIRNLET7D; hsa-let-7d Summary microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIRLET7E, Official Symbol MIRLET7Eprovided by HGNC Official Full Name microRNA let-7eprovided by HGNC Primary source HGNC:HGNC:31482 See related Ensembl:ENSG00000198972 MIM:611250; miRBase:MI0000066; AllianceGenome:HGNC:31482 Gene type ncRNA RefSeq status PROVISIONAL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LET7E; let-7e; MIRNLET7E; hsa-let-7e Summary microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIRLET7F1, Official Symbol MIRLET7F1provided by HGNC Official Full Name microRNA let-7f-1provided by HGNC Primary source HGNC:HGNC:31483 See related Ensembl:ENSG00000199072 MIM:612146; miRBase:MI0000067; AllianceGenome:HGNC:31483 Gene type ncRNA RefSeq status PROVISIONAL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LET7F1; let-7f-1; MIRNLET7F1 Summary microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIRLET7F2, Official Symbol MIRLET7F2provided by HGNC Official Full Name microRNA let-7f-2provided by HGNC Primary source HGNC:HGNC:31484 See related Ensembl:ENSG00000208012 MIM:300721; miRBase:MI0000068; AllianceGenome:HGNC:31484 Gene type ncRNA RefSeq status PROVISIONAL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LET7F2; let-7f-2; MIRNLET7F2 Summary microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIRLET7G, Official Symbol MIRLET7Gprovided by HGNC Official Full Name microRNA let-7gprovided by HGNC Primary source HGNC:HGNC:31485 See related Ensembl:ENSG00000199150 MIM:612102; miRBase:MI0000433; AllianceGenome:HGNC:31485 Gene type ncRNA RefSeq status PROVISIONAL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LET7G; let-7g; MIRNLET7G; hsa-let-7g Summary microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIRLET7I, Official Symbol MIRLET7Iprovided by HGNC Official Full Name microRNA let-7iprovided by HGNC Primary source HGNC:HGNC:31486 See related Ensembl:ENSG00000199179 MIM:612148; miRBase:MI0000434; AllianceGenome:HGNC:31486 Gene type ncRNA RefSeq status PROVISIONAL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LET7I; let-7i; MIRNLET7I; hsa-let-7i Summary microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIS12, Official Symbol MIS12provided by HGNC Official Full Name MIS12 kinetochore complex componentprovided by HGNC Primary source HGNC:HGNC:24967 See related Ensembl:ENSG00000167842 MIM:609178; AllianceGenome:HGNC:24967 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 MTW1; hMis12; KNTC2AP; 2510025F08Rik Summary Involved in attachment of mitotic spindle microtubules to kinetochore and kinetochore assembly. Located in kinetochore and nucleus. Part of MIS12/MIND type complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 7.6), lymph node (RPKM 6.6) and 25 other tissues See more Orthologs mouse all
MIS18A, Official Symbol MIS18Aprovided by HGNC Official Full Name MIS18 kinetochore protein Aprovided by HGNC Primary source HGNC:HGNC:1286 See related Ensembl:ENSG00000159055 MIM:618137; AllianceGenome:HGNC:1286 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 B28; FASP1; C21orf45; C21orf46; MIS18alpha; hMis18alpha Summary Enables identical protein binding activity. Predicted to be involved in CENP-A containing chromatin assembly and chromosome segregation. Predicted to act upstream of or within regulation of DNA methylation. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 8.3), bone marrow (RPKM 3.6) and 24 other tissues See more Orthologs mouse all
MIS18BP1, Official Symbol MIS18BP1provided by HGNC Official Full Name MIS18 binding protein 1provided by HGNC Primary source HGNC:HGNC:20190 See related Ensembl:ENSG00000129534 MIM:618139; AllianceGenome:HGNC:20190 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 KNL2; M18BP1; C14orf106; HSA242977 Summary Predicted to enable DNA binding activity. Predicted to be involved in cell division. Predicted to be located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 16.3), lymph node (RPKM 12.1) and 24 other tissues See more Orthologs mouse all
MISP, Official Symbol MISPprovided by HGNC Official Full Name mitotic spindle positioningprovided by HGNC Primary source HGNC:HGNC:27000 See related Ensembl:ENSG00000099812 MIM:615289; AllianceGenome:HGNC:27000 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 MISP1; C19orf21 Summary The protein encoded by this gene is an actin-bundling protein involved in determining cell morphology and mitotic progression. The encoded protein is required for the proper positioning of the mitotic spindle. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Feb 2016] Expression Biased expression in small intestine (RPKM 92.0), duodenum (RPKM 77.1) and 6 other tissues See more Orthologs mouse all
MISP3, Official Symbol MISP3provided by HGNC Official Full Name MISP family member 3provided by HGNC Primary source HGNC:HGNC:26963 See related Ensembl:ENSG00000141854 AllianceGenome:HGNC:26963 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 Expression Broad expression in kidney (RPKM 7.9), colon (RPKM 7.2) and 23 other tissues See more Orthologs mouse all
MITD1, Official Symbol MITD1provided by HGNC Official Full Name microtubule interacting and trafficking domain containing 1provided by HGNC Primary source HGNC:HGNC:25207 See related Ensembl:ENSG00000158411 AllianceGenome:HGNC:25207 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 Summary Abscission, the separation of daughter cells at the end of cytokinesis, is effected by endosomal sorting complexes required for transport III (ESCRT-III). The protein encoded by this gene functions as a homodimer, with the N-termini binding to a subset of ESCRT-III subunits and the C-termini binding to membranes. The encoded protein regulates ESCRT-III activity and is required for proper cytokinesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016] Expression Ubiquitous expression in lymph node (RPKM 12.5), appendix (RPKM 10.4) and 25 other tissues See more Orthologs mouse all
MITF, Official Symbol MITFprovided by HGNC Official Full Name melanocyte inducing transcription factorprovided by HGNC Primary source HGNC:HGNC:7105 See related Ensembl:ENSG00000187098 MIM:156845; AllianceGenome:HGNC:7105 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 MI; WS2; CMM8; WS2A; COMMAD; MITF-A; bHLHe32 Summary The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. [provided by RefSeq, Aug 2017] Expression Broad expression in endometrium (RPKM 9.9), heart (RPKM 3.9) and 19 other tissues See more Orthologs mouse all
MIX23, Official Symbol MIX23provided by HGNC Official Full Name mitochondrial matrix import factor 23provided by HGNC Primary source HGNC:HGNC:31136 See related Ensembl:ENSG00000160124 AllianceGenome:HGNC:31136 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 CCDC58 Summary Predicted to be located in mitochondrial intermembrane space. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 9.4), colon (RPKM 7.2) and 25 other tissues See more Orthologs mouse all
MIX23P2, Official Symbol MIX23P2provided by HGNC Official Full Name MIX23 pseudogene 2provided by HGNC Primary source HGNC:HGNC:45025 See related AllianceGenome:HGNC:45025 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 CCDC58P2
MIXL1, Official Symbol MIXL1provided by HGNC Official Full Name Mix paired-like homeoboxprovided by HGNC Primary source HGNC:HGNC:13363 See related Ensembl:ENSG00000185155 MIM:609852; AllianceGenome:HGNC:13363 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 MIX; MIXL; MILD1 Summary Enables RNA polymerase II-specific DNA-binding transcription factor binding activity and sequence-specific double-stranded DNA binding activity. Predicted to be involved in several processes, including endodermal cell differentiation; hematopoietic progenitor cell differentiation; and positive regulation of mesoderm development. Predicted to act upstream of or within cell migration involved in gastrulation and hemopoiesis. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in lymph node (RPKM 1.1), urinary bladder (RPKM 0.8) and 11 other tissues See more Orthologs mouse all
MKI67, Official Symbol MKI67provided by HGNC Official Full Name marker of proliferation Ki-67provided by HGNC Primary source HGNC:HGNC:7107 See related Ensembl:ENSG00000148773 MIM:176741; AllianceGenome:HGNC:7107 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 KIA; MIB-; MIB-1; PPP1R105 Summary Enables protein C-terminus binding activity. Involved in regulation of chromosome segregation and regulation of mitotic nuclear division. Located in chromosome; nuclear body; and nucleolus. Colocalizes with condensed chromosome. Implicated in Crohn's disease; breast cancer; human immunodeficiency virus infectious disease; and pancreatic cancer. Biomarker of several diseases, including Barrett's esophagus; autoimmune disease of musculoskeletal system (multiple); endocrine gland cancer (multiple); gastrointestinal system cancer (multiple); and interstitial cystitis. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in bone marrow (RPKM 18.5), lymph node (RPKM 8.4) and 12 other tissues See more Orthologs mouse all
MKKS, Official Symbol MKKSprovided by HGNC Official Full Name MKKS centrosomal shuttling proteinprovided by HGNC Primary source HGNC:HGNC:7108 See related Ensembl:ENSG00000125863 MIM:604896; AllianceGenome:HGNC:7108 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 KMS; MKS; BBS6; HMCS Summary This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6, also known as McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2023] Expression Ubiquitous expression in kidney (RPKM 13.4), testis (RPKM 12.8) and 25 other tissues See more Orthologs mouse all
MKLN1, Official Symbol MKLN1provided by HGNC Official Full Name muskelin 1provided by HGNC Primary source HGNC:HGNC:7109 See related Ensembl:ENSG00000128585 MIM:605623; AllianceGenome:HGNC:7109 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 TWA2 Summary Muskelin is an intracellular protein that acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component thrombospondin I (MIM 188060) (Adams et al., 1998 [PubMed 9724633]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in prostate (RPKM 8.7), brain (RPKM 8.6) and 25 other tissues See more Orthologs mouse all
MKLN1-AS, Official Symbol MKLN1-ASprovided by HGNC Official Full Name MKLN1 antisense RNAprovided by HGNC Primary source HGNC:HGNC:40374 See related Ensembl:ENSG00000236753 AllianceGenome:HGNC:40374 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 MKLN1-AS2 Expression Ubiquitous expression in small intestine (RPKM 1.7), duodenum (RPKM 1.4) and 25 other tissues See more
MKNK1, Official Symbol MKNK1provided by HGNC Official Full Name MAPK interacting serine/threonine kinase 1provided by HGNC Primary source HGNC:HGNC:7110 See related Ensembl:ENSG00000079277 MIM:606724; AllianceGenome:HGNC:7110 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 MNK1 Summary This gene encodes a Ser/Thr protein kinase that interacts with, and is activated by ERK1 and p38 mitogen-activated protein kinases, and thus may play a role in the response to environmental stress and cytokines. This kinase may also regulate transcription by phosphorylating eIF4E via interaction with the C-terminal region of eIF4G. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Jan 2012] Expression Ubiquitous expression in appendix (RPKM 4.8), pancreas (RPKM 4.3) and 25 other tissues See more Orthologs mouse all
MKNK1-AS1, Official Symbol MKNK1-AS1provided by HGNC Official Full Name MKNK1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44129 See related Ensembl:ENSG00000269956 AllianceGenome:HGNC:44129 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 Ubiquitous expression in appendix (RPKM 5.5), lung (RPKM 4.9) and 25 other tissues See more
MKNK2, Official Symbol MKNK2provided by HGNC Official Full Name MAPK interacting serine/threonine kinase 2provided by HGNC Primary source HGNC:HGNC:7111 See related Ensembl:ENSG00000099875 MIM:605069; AllianceGenome:HGNC:7111 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 MNK2; GPRK7 Summary This gene encodes a member of the calcium/calmodulin-dependent protein kinases (CAMK) Ser/Thr protein kinase family, which belongs to the protein kinase superfamily. This protein contains conserved DLG (asp-leu-gly) and ENIL (glu-asn-ile-leu) motifs, and an N-terminal polybasic region which binds importin A and the translation factor scaffold protein eukaryotic initiation factor 4G (eIF4G). This protein is one of the downstream kinases activated by mitogen-activated protein (MAP) kinases. It phosphorylates the eukaryotic initiation factor 4E (eIF4E), thus playing important roles in the initiation of mRNA translation, oncogenic transformation and malignant cell proliferation. In addition to eIF4E, this protein also interacts with von Hippel-Lindau tumor suppressor (VHL), ring-box 1 (Rbx1) and Cullin2 (Cul2), which are all components of the CBC(VHL) ubiquitin ligase E3 complex. Multiple alternatively spliced transcript variants have been found, but the full-length nature and biological activity of only two variants are determined. These two variants encode distinct isoforms which differ in activity and regulation, and in subcellular localization. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in esophagus (RPKM 52.7), bone marrow (RPKM 47.1) and 25 other tissues See more Orthologs mouse all
MKNK2P1, Official Symbol MKNK2P1provided by HGNC Official Full Name MAP kinase interacting serine/threonine kinase 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:44970 See related Ensembl:ENSG00000233533 AllianceGenome:HGNC:44970 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MKRN1, Official Symbol MKRN1provided by HGNC Official Full Name makorin ring finger protein 1provided by HGNC Primary source HGNC:HGNC:7112 See related Ensembl:ENSG00000133606 MIM:607754; AllianceGenome:HGNC:7112 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 RNF61 Summary This gene encodes a protein that belongs to a novel class of zinc finger proteins. The encoded protein functions as a transcriptional co-regulator, and as an E3 ubiquitin ligase that promotes the ubiquitination and proteasomal degradation of target proteins. The protein encoded by this gene is thought to regulate RNA polymerase II-catalyzed transcription. Substrates for this protein's E3 ubiquitin ligase activity include the capsid protein of the West Nile virus and the catalytic subunit of the telomerase ribonucleoprotein. This protein controls cell cycle arrest and apoptosis by regulating p21, a cell cycle regulator, and the tumor suppressor protein p53. Pseudogenes of this gene are present on chromosomes 1, 3, 9, 12 and 20, and on the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014] Expression Ubiquitous expression in bone marrow (RPKM 50.0), testis (RPKM 49.4) and 25 other tissues See more Orthologs mouse all
MKRN2, Official Symbol MKRN2provided by HGNC Official Full Name makorin ring finger protein 2provided by HGNC Primary source HGNC:HGNC:7113 See related Ensembl:ENSG00000075975 MIM:608426; AllianceGenome:HGNC:7113 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 RNF62; HSPC070 Summary This gene encodes a probable E3 ubiquitin ligase containing several zinc finger domains, that is a member of the makorin RING zinc-finger protein family. This gene overlaps the v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1) gene in an antisense orientation and may have a co-regulatory function with RAF1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] Expression Ubiquitous expression in testis (RPKM 30.6), thyroid (RPKM 16.5) and 25 other tissues See more Orthologs mouse all
MKRN2OS, Official Symbol MKRN2OSprovided by HGNC Official Full Name MKRN2 opposite strandprovided by HGNC Primary source HGNC:HGNC:40375 See related Ensembl:ENSG00000225526 AllianceGenome:HGNC:40375 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 C3orf83; MKRN2-AS1 Expression Broad expression in small intestine (RPKM 1.1), duodenum (RPKM 1.1) and 22 other tissues See more Orthologs mouse all
MKRN3, Official Symbol MKRN3provided by HGNC Official Full Name makorin ring finger protein 3provided by HGNC Primary source HGNC:HGNC:7114 See related Ensembl:ENSG00000179455 MIM:603856; AllianceGenome:HGNC:7114 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 CPPB2; D15S9; RNF63; ZFP127; ZNF127 Summary The protein encoded by this gene contains a RING (C3HC4) zinc finger motif and several C3H zinc finger motifs. This gene is intronless and imprinted, with expression only from the paternal allele. Disruption of the imprinting at this locus may contribute to Prader-Willi syndrome. An antisense RNA of unknown function has been found overlapping this gene. [provided by RefSeq, Jul 2008] Orthologs mouse all
MKRN3-AS1, Gene symbol MKRN3-AS1 Gene description MKRN3 antisense RNA 1 Primary source MIM:603857 Gene type ncRNA Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FNZ127; MKRN3AS; MKRN3-AS; ZNF127AS; ZNF127-AS; NCRNA00009 Annotation information not in current annotation release
MKRN6P, Official Symbol MKRN6Pprovided by HGNC Official Full Name makorin ring finger protein 6, pseudogeneprovided by HGNC Primary source HGNC:HGNC:7118 See related AllianceGenome:HGNC:7118 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 MKRNP2
MKRN7P, Official Symbol MKRN7Pprovided by HGNC Official Full Name makorin ring finger protein 7, pseudogeneprovided by HGNC Primary source HGNC:HGNC:7119 See related Ensembl:ENSG00000225849 AllianceGenome:HGNC:7119 Gene type pseudo RefSeq status PROVISIONAL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MKRNP3; ZNF127L5; dJ981L23.2
MKS1, Official Symbol MKS1provided by HGNC Official Full Name MKS transition zone complex subunit 1provided by HGNC Primary source HGNC:HGNC:7121 See related Ensembl:ENSG00000011143 MIM:609883; AllianceGenome:HGNC:7121 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 MES; MKS; BBS13; POC12; JBTS28 Summary The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] Expression Ubiquitous expression in testis (RPKM 6.0), ovary (RPKM 4.9) and 25 other tissues See more Orthologs mouse all
MKX, Official Symbol MKXprovided by HGNC Official Full Name mohawk homeoboxprovided by HGNC Primary source HGNC:HGNC:23729 See related Ensembl:ENSG00000150051 MIM:601332; AllianceGenome:HGNC:23729 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 IFRX; IRXL1; C10orf48 Summary The protein encoded by this gene is an IRX family-related homeobox protein that may play a role in cell adhesion. Studies in mice suggest that this protein may be a regulator of tendon development. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jun 2011] Expression Biased expression in prostate (RPKM 5.8), ovary (RPKM 4.5) and 13 other tissues See more Orthologs mouse all
MKX-AS1, Official Symbol MKX-AS1provided by HGNC Official Full Name MKX antisense RNA 1provided by HGNC Primary source HGNC:HGNC:50686 See related AllianceGenome:HGNC:50686 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
MLANA, Official Symbol MLANAprovided by HGNC Official Full Name melan-Aprovided by HGNC Primary source HGNC:HGNC:7124 See related Ensembl:ENSG00000120215 MIM:605513; AllianceGenome:HGNC:7124 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 MART1; MART-1 Summary Located in endoplasmic reticulum membrane; melanosome; and trans-Golgi network. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in skin (RPKM 15.6) and colon (RPKM 0.2) See more Orthologs mouse all
MLC1, Official Symbol MLC1provided by HGNC Official Full Name modulator of VRAC current 1provided by HGNC Primary source HGNC:HGNC:17082 See related Ensembl:ENSG00000100427 MIM:605908; AllianceGenome:HGNC:17082 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 VL; LVM; MLC Summary The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 57.6) and bone marrow (RPKM 11.2) See more Orthologs mouse all
MLEC, Official Symbol MLECprovided by HGNC Official Full Name malectinprovided by HGNC Primary source HGNC:HGNC:28973 See related Ensembl:ENSG00000110917 MIM:613802; AllianceGenome:HGNC:28973 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 KIAA0152 Summary This gene encodes the carbohydrate-binding protein malectin which is a Type I membrane-anchored endoplasmic reticulum protein. This protein has an affinity for Glc2Man9GlcNAc2 (G2M9) N-glycans and is involved in regulating glycosylation in the endoplasmic reticulum. This protein has also been shown to interact with ribophorin I and may be involved in the directing the degradation of misfolded proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015] Expression Ubiquitous expression in colon (RPKM 16.3), thyroid (RPKM 15.6) and 25 other tissues See more Orthologs mouse all
MLECP1, Official Symbol MLECP1provided by HGNC Official Full Name malectin pseudogene 1provided by HGNC Primary source HGNC:HGNC:51122 See related Ensembl:ENSG00000277899 AllianceGenome:HGNC:51122 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MLF1, Official Symbol MLF1provided by HGNC Official Full Name myeloid leukemia factor 1provided by HGNC Primary source HGNC:HGNC:7125 See related Ensembl:ENSG00000178053 MIM:601402; AllianceGenome:HGNC:7125 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 Summary This gene encodes an oncoprotein which is thought to play a role in the phenotypic determination of hemopoetic cells. Translocations between this gene and nucleophosmin have been associated with myelodysplastic syndrome and acute myeloid leukemia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010] Expression Biased expression in testis (RPKM 97.9), heart (RPKM 24.2) and 4 other tissues See more Orthologs mouse all
MLF2, Official Symbol MLF2provided by HGNC Official Full Name myeloid leukemia factor 2provided by HGNC Primary source HGNC:HGNC:7126 See related Ensembl:ENSG00000089693 MIM:601401; AllianceGenome:HGNC:7126 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 NTN4 Summary Predicted to be involved in regulation of transcription, DNA-templated. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 67.7), prostate (RPKM 51.7) and 25 other tissues See more Orthologs mouse all
MLH1, Official Symbol MLH1provided by HGNC Official Full Name mutL homolog 1provided by HGNC Primary source HGNC:HGNC:7127 See related Ensembl:ENSG00000076242 MIM:120436; AllianceGenome:HGNC:7127 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 FCC2; COCA2; HNPCC; MLH-1; hMLH1; HNPCC2; LYNCH2; MMRCS1 Summary The protein encoded by this gene can heterodimerize with mismatch repair endonuclease PMS2 to form MutL alpha, part of the DNA mismatch repair system. When MutL alpha is bound by MutS beta and some accessory proteins, the PMS2 subunit of MutL alpha introduces a single-strand break near DNA mismatches, providing an entry point for exonuclease degradation. The encoded protein is also involved in DNA damage signaling and can heterodimerize with DNA mismatch repair protein MLH3 to form MutL gamma, which is involved in meiosis. This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). [provided by RefSeq, Aug 2017] Expression Ubiquitous expression in testis (RPKM 17.8), thyroid (RPKM 13.3) and 25 other tissues See more Orthologs mouse all
MLH3, Official Symbol MLH3provided by HGNC Official Full Name mutL homolog 3provided by HGNC Primary source HGNC:HGNC:7128 See related Ensembl:ENSG00000119684 MIM:604395; AllianceGenome:HGNC:7128 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 HNPCC7 Summary This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 5.0), adrenal (RPKM 3.9) and 25 other tissues See more Orthologs mouse all
MLIP, Official Symbol MLIPprovided by HGNC Official Full Name muscular LMNA interacting proteinprovided by HGNC Primary source HGNC:HGNC:21355 See related Ensembl:ENSG00000146147 MIM:614106; AllianceGenome:HGNC:21355 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 CIP; MMCKR; C6orf142 Summary Predicted to enable lamin binding activity and transcription corepressor activity. Predicted to be involved in negative regulation of cardiac muscle hypertrophy in response to stress; negative regulation of transcription by RNA polymerase II; and positive regulation of transcription by RNA polymerase II. Predicted to be located in nuclear lumen. Predicted to be active in PML body; nuclear envelope; and sarcolemma. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in heart (RPKM 11.0), liver (RPKM 1.8) and 1 other tissue See more Orthologs mouse all
MLIP-IT1, Official Symbol MLIP-IT1provided by HGNC Official Full Name MLIP intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41461 See related Ensembl:ENSG00000146147 AllianceGenome:HGNC:41461 Gene type ncRNA RefSeq status PREDICTED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in skin (RPKM 1.8), esophagus (RPKM 0.2) and 1 other tissue See more
MLKL, Official Symbol MLKLprovided by HGNC Official Full Name mixed lineage kinase domain like pseudokinaseprovided by HGNC Primary source HGNC:HGNC:26617 See related Ensembl:ENSG00000168404 MIM:615153; AllianceGenome:HGNC:26617 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 hMLKL Summary This gene belongs to the protein kinase superfamily. The encoded protein contains a protein kinase-like domain; however, is thought to be inactive because it lacks several residues required for activity. This protein plays a critical role in tumor necrosis factor (TNF)-induced necroptosis, a programmed cell death process, via interaction with receptor-interacting protein 3 (RIP3), which is a key signaling molecule in necroptosis pathway. Inhibitor studies and knockdown of this gene inhibited TNF-induced necrosis. High levels of this protein and RIP3 are associated with inflammatory bowel disease in children. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2015] Expression Broad expression in spleen (RPKM 10.5), bone marrow (RPKM 10.4) and 23 other tissues See more Orthologs mouse all
MLLT1, Official Symbol MLLT1provided by HGNC Official Full Name MLLT1 super elongation complex subunitprovided by HGNC Primary source HGNC:HGNC:7134 See related Ensembl:ENSG00000130382 MIM:159556; AllianceGenome:HGNC:7134 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 ENL; LTG19; YEATS1 Summary Predicted to be involved in regulation of transcription, DNA-templated. Predicted to act upstream of or within negative regulation of protein kinase activity. Located in cytosol; fibrillar center; and nucleoplasm. Part of transcription elongation factor complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in placenta (RPKM 30.6), ovary (RPKM 14.0) and 25 other tissues See more Orthologs mouse all