psui3905/ncbi_genes_summary huggingface dataset:
MYT1L, Official Symbol MYT1Lprovided by HGNC Official Full Name myelin transcription factor 1 likeprovided by HGNC Primary source HGNC:HGNC:7623 See related Ensembl:ENSG00000186487 MIM:613084; AllianceGenome:HGNC:7623 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 NZF1; MRD39; myT1-L; ZC2H2C2; ZC2HC4B Summary This gene encodes a member of the zinc finger superfamily of transcription factors whose expression, thus far, has been found only in neuronal tissues. The encoded protein belongs to a novel class of cystein-cystein-histidine-cystein zinc finger proteins that function in the developing mammalian central nervous system. Forced expression of this gene in combination with the basic helix-loop-helix transcription factor NeuroD1 and the transcription factors POU class 3 homeobox 2 and achaete-scute family basic helix-loop-helix transcription factor 1 can convert fetal and postnatal human fibroblasts into induced neuronal cells, which are able to generate action potentials. Mutations in this gene have been associated with an autosomal dominant form of cognitive disability and with autism spectrum disorder. Alternative splicing results in multiple variants. [provided by RefSeq, Jul 2017] Expression Biased expression in brain (RPKM 9.8) and testis (RPKM 1.0) See more Orthologs mouse all
MYT1L-AS1, Official Symbol MYT1L-AS1provided by HGNC Official Full Name MYT1L antisense RNA 1provided by HGNC Primary source HGNC:HGNC:49274 See related Ensembl:ENSG00000225619 AllianceGenome:HGNC:49274 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
MYZAP, Official Symbol MYZAPprovided by HGNC Official Full Name myocardial zonula adherens proteinprovided by HGNC Primary source HGNC:HGNC:43444 See related Ensembl:ENSG00000263155 MIM:614071; AllianceGenome:HGNC:43444 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 Gup; GCOM1; MYOZAP Summary This gene encodes a protein that is abundantly expressed in cardiac tissue. The encoded protein localizes to intercalated discs in cardiomyocytes and functions as an activator of Rho-dependent serum-response factor signaling. Alternative splicing results in multiple transcript variants. Readthrough transcription also exists between this gene and the neighboring downstream gene POLR2M (polymerase (RNA) II (DNA directed) polypeptide M) and is represented with GeneID: 145781. [provided by RefSeq, Mar 2014] Expression Biased expression in heart (RPKM 228.1), fat (RPKM 55.5) and 5 other tissues See more Orthologs mouse all
MZB1, Official Symbol MZB1provided by HGNC Official Full Name marginal zone B and B1 cell specific proteinprovided by HGNC Primary source HGNC:HGNC:30125 See related Ensembl:ENSG00000170476 MIM:609447; AllianceGenome:HGNC:30125 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 PACAP; pERp1; MEDA-7 Summary Involved in positive regulation of cell population proliferation. Located in cytoplasm and extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in lymph node (RPKM 68.4), urinary bladder (RPKM 65.2) and 13 other tissues See more Orthologs mouse all
MZF1, Official Symbol MZF1provided by HGNC Official Full Name myeloid zinc finger 1provided by HGNC Primary source HGNC:HGNC:13108 See related Ensembl:ENSG00000099326 MIM:194550; AllianceGenome:HGNC:13108 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 MZF-1; MZF1B; ZFP98; ZNF42; ZSCAN6 Summary Enables DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and protein homodimerization activity. Involved in negative regulation of transcription by RNA polymerase II and positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 4.6), prostate (RPKM 4.2) and 25 other tissues See more Orthologs mouse all
MZF1-AS1, Official Symbol MZF1-AS1provided by HGNC Official Full Name MZF1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51271 See related Ensembl:ENSG00000267858 AllianceGenome:HGNC:51271 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 lung (RPKM 1.9), thyroid (RPKM 1.7) and 25 other tissues See more
MZT1, Official Symbol MZT1provided by HGNC Official Full Name mitotic spindle organizing protein 1provided by HGNC Primary source HGNC:HGNC:33830 See related Ensembl:ENSG00000204899 MIM:613448; AllianceGenome:HGNC:33830 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 MOZART1; C13orf37 Summary Involved in gamma-tubulin complex localization. Located in centrosome and spindle. Part of gamma-tubulin large complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 11.3), bone marrow (RPKM 9.3) and 25 other tissues See more Orthologs mouse all
MZT1P1, Official Symbol MZT1P1provided by HGNC Official Full Name mitotic spindle organizing protein 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:50605 See related AllianceGenome:HGNC:50605 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MZT2A, Official Symbol MZT2Aprovided by HGNC Official Full Name mitotic spindle organizing protein 2Aprovided by HGNC Primary source HGNC:HGNC:33187 See related Ensembl:ENSG00000173272 MIM:613449; AllianceGenome:HGNC:33187 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 FAM128A; MOZART2A Summary Located in centrosome; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 4.8), colon (RPKM 4.6) and 25 other tissues See more
MZT2B, Official Symbol MZT2Bprovided by HGNC Official Full Name mitotic spindle organizing protein 2Bprovided by HGNC Primary source HGNC:HGNC:25886 See related Ensembl:ENSG00000152082 MIM:613450; AllianceGenome:HGNC:25886 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 FAM128B; MOZART2B Summary Located in cytosol; microtubule cytoskeleton; and nucleoplasm. Part of gamma-tubulin large complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 10.8), colon (RPKM 10.5) and 25 other tissues See more Orthologs all
N4BP1, Official Symbol N4BP1provided by HGNC Official Full Name NEDD4 binding protein 1provided by HGNC Primary source HGNC:HGNC:29850 See related Ensembl:ENSG00000102921 MIM:619138; AllianceGenome:HGNC:29850 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 Enables mRNA binding activity; ribonuclease activity; and ubiquitin binding activity. Involved in cellular response to UV and negative regulation of viral genome replication. Predicted to be located in cytosol and nucleolus. Predicted to be active in PML body. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lung (RPKM 13.3), esophagus (RPKM 11.1) and 25 other tissues See more Orthologs mouse all
N4BP2, Official Symbol N4BP2provided by HGNC Official Full Name NEDD4 binding protein 2provided by HGNC Primary source HGNC:HGNC:29851 See related Ensembl:ENSG00000078177 MIM:619139; AllianceGenome:HGNC:29851 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 B3BP Summary This gene encodes a protein containing a polynucleotide kinase domain (PNK) near the N-terminal region, and a Small MutS Related (Smr) domain near the C-terminal region. The encoded protein can bind to both B-cell leukemia/lymphoma 3 (BCL-3) and neural precursor cell expressed, developmentally downregulated 4, (Nedd4) proteins. This protein binds and hydrolyzes ATP, may function as a 5'-polynucleotide kinase, and has the capacity to be a ubiquitylation substrate. This protein may play a role in transcription-coupled DNA repair or genetic recombination. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in thyroid (RPKM 3.3), lymph node (RPKM 2.4) and 25 other tissues See more Orthologs mouse all
N4BP2L1, Official Symbol N4BP2L1provided by HGNC Official Full Name NEDD4 binding protein 2 like 1provided by HGNC Primary source HGNC:HGNC:25037 See related Ensembl:ENSG00000139597 AllianceGenome:HGNC:25037 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 CG018 Expression Ubiquitous expression in ovary (RPKM 4.2), liver (RPKM 3.8) and 25 other tissues See more Orthologs mouse all
N4BP2L2, Official Symbol N4BP2L2provided by HGNC Official Full Name NEDD4 binding protein 2 like 2provided by HGNC Primary source HGNC:HGNC:26916 See related Ensembl:ENSG00000244754 MIM:615788; AllianceGenome:HGNC:26916 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 CG005; CG016; PFAAP5; 92M18.3 Summary Enables enzyme binding activity. Involved in negative regulation of hematopoietic stem cell differentiation and positive regulation of hematopoietic stem cell proliferation. Located in nucleus. Part of transcription repressor complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 5.4), ovary (RPKM 5.3) and 25 other tissues See more Orthologs all
N4BP2L2-IT2, Official Symbol N4BP2L2-IT2provided by HGNC Official Full Name N4BPL2 intronic transcript 2provided by HGNC Primary source HGNC:HGNC:25038 See related Ensembl:ENSG00000281026 AllianceGenome:HGNC:25038 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 CG030
N4BP3, Official Symbol N4BP3provided by HGNC Official Full Name NEDD4 binding protein 3provided by HGNC Primary source HGNC:HGNC:29852 See related Ensembl:ENSG00000145911 MIM:619140; AllianceGenome:HGNC:29852 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 LZTS4 Summary Predicted to be involved in nervous system development. Predicted to be located in axon and dendrite. Predicted to be active in cytoplasmic vesicle. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in placenta (RPKM 5.5), esophagus (RPKM 3.2) and 20 other tissues See more Orthologs mouse all
N6AMT1, Official Symbol N6AMT1provided by HGNC Official Full Name N-6 adenine-specific DNA methyltransferase 1provided by HGNC Primary source HGNC:HGNC:16021 See related Ensembl:ENSG00000156239 MIM:614553; AllianceGenome:HGNC:16021 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 KMT9; MTQ2; PrmC; HEMK2; N6AMT; PRED28; C21orf127; m.HsaHemK2P Summary This gene encodes an N(6)-adenine-specific DNA methyltransferase. The encoded enzyme may be involved in the methylation of release factor I during translation termination. This enzyme is also involved in converting the arsenic metabolite monomethylarsonous acid to the less toxic dimethylarsonic acid. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Mar 2023] Expression Ubiquitous expression in prostate (RPKM 1.2), ovary (RPKM 1.0) and 25 other tissues See more Orthologs mouse all
NAA10, Official Symbol NAA10provided by HGNC Official Full Name N-alpha-acetyltransferase 10, NatA catalytic subunitprovided by HGNC Primary source HGNC:HGNC:18704 See related Ensembl:ENSG00000102030 MIM:300013; AllianceGenome:HGNC:18704 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 MAA; TE2; ARD1; LZMS; NATD; ARD1A; ARD1P; OGDNS; hARD1; DXS707; MCOPS1 Summary N-alpha-acetylation is among the most common post-translational protein modifications in eukaryotic cells. This process involves the transfer of an acetyl group from acetyl-coenzyme A to the alpha-amino group on a nascent polypeptide and is essential for normal cell function. This gene encodes an N-terminal acetyltransferase that functions as the catalytic subunit of the major amino-terminal acetyltransferase A complex. Mutations in this gene are the cause of Ogden syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012] Expression Ubiquitous expression in fat (RPKM 16.8), appendix (RPKM 16.4) and 25 other tissues See more Orthologs mouse all
NAA11, Official Symbol NAA11provided by HGNC Official Full Name N-alpha-acetyltransferase 11, NatA catalytic subunitprovided by HGNC Primary source HGNC:HGNC:28125 See related Ensembl:ENSG00000156269 MIM:619432; AllianceGenome:HGNC:28125 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 ARD2; ARD1B; hARD2 Summary Enables peptide alpha-N-acetyltransferase activity. Involved in N-terminal protein amino acid acetylation. Located in several cellular components, including Golgi apparatus; centrosome; and nucleoplasm. Part of NatA complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 1.1) and placenta (RPKM 0.8) See more Orthologs mouse all
NAA15, Official Symbol NAA15provided by HGNC Official Full Name N-alpha-acetyltransferase 15, NatA auxiliary subunitprovided by HGNC Primary source HGNC:HGNC:30782 See related Ensembl:ENSG00000164134 MIM:608000; AllianceGenome:HGNC:30782 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 Ga19; NATH; TBDN; MRD50; NARG1; NAT1P; TBDN100 Summary N-alpha-acetylation is among the most common post-translational protein modifications in eukaryotic cells. This process involves the transfer of an acetyl group from acetyl-coenzyme A to the alpha-amino group on a nascent polypeptide and is essential for normal cell function. This gene encodes the auxillary subunit of the N-terminal acetyltransferase A (NatA) complex. [provided by RefSeq, Jan 2017] Expression Ubiquitous expression in testis (RPKM 10.4), lymph node (RPKM 9.1) and 25 other tissues See more Orthologs mouse all
NAA16, Official Symbol NAA16provided by HGNC Official Full Name N-alpha-acetyltransferase 16, NatA auxiliary subunitprovided by HGNC Primary source HGNC:HGNC:26164 See related Ensembl:ENSG00000172766 MIM:619497; AllianceGenome:HGNC:26164 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 NARG1L Summary Enables ribosome binding activity. Involved in N-terminal protein amino acid acetylation; negative regulation of apoptotic process; and protein stabilization. Located in cytosol. Part of NatA complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 4.0), testis (RPKM 2.5) and 25 other tissues See more Orthologs mouse all
NAA20, Official Symbol NAA20provided by HGNC Official Full Name N-alpha-acetyltransferase 20, NatB catalytic subunitprovided by HGNC Primary source HGNC:HGNC:15908 See related Ensembl:ENSG00000173418 MIM:610833; AllianceGenome:HGNC:15908 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 NAT3; NAT5; MRT73; NAT3P; NAT5P; dJ1002M8.1 Summary NAT5 is a component of N-acetyltransferase complex B (NatB). Human NatB performs cotranslational N(alpha)-terminal acetylation of methionine residues when they are followed by asparagine (Starheim et al., 2008 [PubMed 18570629]).[supplied by OMIM, Apr 2009] Expression Ubiquitous expression in esophagus (RPKM 49.8), testis (RPKM 35.7) and 25 other tissues See more Orthologs mouse all
NAA25, Official Symbol NAA25provided by HGNC Official Full Name N-alpha-acetyltransferase 25, NatB auxiliary subunitprovided by HGNC Primary source HGNC:HGNC:25783 See related Ensembl:ENSG00000111300 MIM:612755; AllianceGenome:HGNC:25783 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 NAP1; MDM20; C12orf30 Summary This gene encodes the auxiliary subunit of the heteromeric N-terminal acetyltransferase B complex. This complex acetylates methionine residues that are followed by acidic or asparagine residues.[provided by RefSeq, Mar 2010] Expression Ubiquitous expression in thyroid (RPKM 4.6), lymph node (RPKM 4.3) and 25 other tissues See more Orthologs mouse all
NAA30, Official Symbol NAA30provided by HGNC Official Full Name N-alpha-acetyltransferase 30, NatC catalytic subunitprovided by HGNC Primary source HGNC:HGNC:19844 See related Ensembl:ENSG00000139977 MIM:617989; AllianceGenome:HGNC:19844 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 MAK3; Mak3p; NAT12; NAT12P; C14orf35 Summary Enables peptide alpha-N-acetyltransferase activity. Involved in N-terminal peptidyl-methionine acetylation. Located in cytosol and nucleus. Part of NatC complex. Colocalizes with polysome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 11.4), brain (RPKM 9.1) and 25 other tissues See more Orthologs mouse all
NAA35, Official Symbol NAA35provided by HGNC Official Full Name N-alpha-acetyltransferase 35, NatC auxiliary subunitprovided by HGNC Primary source HGNC:HGNC:24340 See related Ensembl:ENSG00000135040 MIM:619438; AllianceGenome:HGNC:24340 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 EGAP; MAK10; MAK10P; bA379P1.1 Summary Involved in negative regulation of apoptotic process. Located in cytosol; nucleoplasm; and plasma membrane. Part of NatC complex. Colocalizes with polysome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 7.0), colon (RPKM 6.9) and 25 other tissues See more Orthologs mouse all
NAA38, Official Symbol NAA38provided by HGNC Official Full Name N-alpha-acetyltransferase 38, NatC auxiliary subunitprovided by HGNC Primary source HGNC:HGNC:28212 See related Ensembl:ENSG00000183011 MIM:617990; AllianceGenome:HGNC:28212 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 LSMD1; MAK31; PFAAP2 Summary Involved in negative regulation of apoptotic process. Located in cytoplasm and nucleoplasm. Part of NatC complex. Colocalizes with polysome. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: The name of this locus was changed from LSMD1 to NAA38 by the HUGO Gene Nomenclature Committee. [23 Jan 2014] Expression Ubiquitous expression in testis (RPKM 15.5), prostate (RPKM 11.6) and 25 other tissues See more Orthologs mouse all
NAA40, Official Symbol NAA40provided by HGNC Official Full Name N-alpha-acetyltransferase 40, NatD catalytic subunitprovided by HGNC Primary source HGNC:HGNC:25845 See related Ensembl:ENSG00000110583 MIM:619999; AllianceGenome:HGNC:25845 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 NatD; NAT11; PATT1; hNatD Summary Enables H2A histone acetyltransferase activity; H4 histone acetyltransferase activity; and peptide-serine-N-acetyltransferase activity. Involved in N-terminal protein amino acid acetylation; histone H2A acetylation; and histone H4 acetylation. Located in centriolar satellite; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 9.3), spleen (RPKM 7.5) and 25 other tissues See more Orthologs mouse all
NAA50, Official Symbol NAA50provided by HGNC Official Full Name N-alpha-acetyltransferase 50, NatE catalytic subunitprovided by HGNC Primary source HGNC:HGNC:29533 See related Ensembl:ENSG00000121579 MIM:610834; AllianceGenome:HGNC:29533 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 SAN; MAK3; NAT5; NAT13; NAT5P; NAT13P; hNaa50p Summary Enables H4 histone acetyltransferase activity; peptide alpha-N-acetyltransferase activity; and peptidyl-lysine acetyltransferase activity. Involved in N-terminal protein amino acid acetylation; establishment of mitotic sister chromatid cohesion; and mitotic sister chromatid cohesion, centromeric. Located in cytosol and nucleus. Part of NatA complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in esophagus (RPKM 21.2), fat (RPKM 20.2) and 25 other tissues See more Orthologs mouse all
NAA60, Official Symbol NAA60provided by HGNC Official Full Name N-alpha-acetyltransferase 60, NatF catalytic subunitprovided by HGNC Primary source HGNC:HGNC:25875 See related Ensembl:ENSG00000122390 MIM:614246; AllianceGenome:HGNC:25875 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 HAT4; NatF; NAT15; hNaa60 Summary This gene encodes an enzyme that localizes to the Golgi apparatus, where it transfers an acetyl group to the N-terminus of free proteins. This enzyme acts on histones, and its activity is important for chromatin assembly and chromosome integrity. Alternative splicing and the use of alternative promoters results in multiple transcript variants. The upstream promoter is located in a differentially methylated region (DMR) and undergoes imprinting; transcript variants originating from this position are expressed from the maternal allele. [provided by RefSeq, Nov 2015] Expression Ubiquitous expression in kidney (RPKM 15.2), duodenum (RPKM 14.4) and 25 other tissues See more Orthologs mouse all
NAA80, Official Symbol NAA80provided by HGNC Official Full Name N-alpha-acetyltransferase 80, NatH catalytic subunitprovided by HGNC Primary source HGNC:HGNC:30252 See related Ensembl:ENSG00000243477 MIM:607073; AllianceGenome:HGNC:30252 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 FUS2; NAT6; FUS-2; HsNAAA80 Summary This gene encodes a member of the N-acetyltransferase family. N-acetyltransferases modify proteins by transferring acetyl groups from acetyl CoA to the N-termini of protein substrates. The encoded protein is a cytoplasmic N-acetyltransferase with a substrate specificity for proteins with an N-terminal methionine. This gene is located in the tumor suppressor gene region on chromosome 3p21.3 and the encoded protein may play a role in cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed. This gene overlaps and is on the same strand as hyaluronoglucosaminidase 3, and some transcripts of each gene share a portion of the first exon. [provided by RefSeq, Jan 2011] Expression Broad expression in testis (RPKM 16.6), bone marrow (RPKM 8.4) and 24 other tissues See more Orthologs mouse all
NAAA, Official Symbol NAAAprovided by HGNC Official Full Name N-acylethanolamine acid amidaseprovided by HGNC Primary source HGNC:HGNC:736 See related Ensembl:ENSG00000138744 MIM:607469; AllianceGenome:HGNC:736 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 PLT; ASAHL Summary Enables N-(long-chain-acyl)ethanolamine deacylase activity; N-acylsphingosine amidohydrolase activity; and fatty acid amide hydrolase activity. Involved in several processes, including N-acylethanolamine metabolic process; N-acylphosphatidylethanolamine metabolic process; and sphingosine metabolic process. Located in lysosome. Is extrinsic component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in prostate (RPKM 15.8), colon (RPKM 14.0) and 24 other tissues See more Orthologs mouse all
NAALAD2, Official Symbol NAALAD2provided by HGNC Official Full Name N-acetylated alpha-linked acidic dipeptidase 2provided by HGNC Primary source HGNC:HGNC:14526 See related Ensembl:ENSG00000077616 MIM:611636; AllianceGenome:HGNC:14526 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 GCP3; GCPIII; GPCIII Summary This gene is a member of the N-acetylated alpha-linked acidic dipeptidase (NAALADase) gene family. The representative member of this family is the gene encoding human prostate-specific membrane antigen (PSM), which is a marker of prostatic carcinomas and is the first to be shown to possess NAALADase activity. NAALADase cleaves N-acetyl-L-aspartate-L-glutamate (NAAG), which is a neuropeptide expressed both in the central nervous systems and in the periphery and is thought to function as a neurotransmitter. The product of this gene is a type II integral membrane protein. Transient transfection of this gene confers both NAALADase and dipetidyl peptidase IV activities to mammalian cells. This gene is highly expressed in ovary and testis as well as within discrete brain areas. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] Expression Broad expression in testis (RPKM 7.2), adrenal (RPKM 5.0) and 17 other tissues See more Orthologs mouse all
NAALADL1, Official Symbol NAALADL1provided by HGNC Official Full Name N-acetylated alpha-linked acidic dipeptidase like 1provided by HGNC Primary source HGNC:HGNC:23536 See related Ensembl:ENSG00000168060 MIM:602640; AllianceGenome:HGNC:23536 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 I100; HILAP; NAALADASEL Summary Enables aminopeptidase activity; metal ion binding activity; and protein homodimerization activity. Involved in peptide catabolic process. Predicted to be located in apical plasma membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in small intestine (RPKM 38.0), duodenum (RPKM 7.0) and 4 other tissues See more Orthologs mouse all
NAALADL2, Official Symbol NAALADL2provided by HGNC Official Full Name N-acetylated alpha-linked acidic dipeptidase like 2provided by HGNC Primary source HGNC:HGNC:23219 See related Ensembl:ENSG00000177694 MIM:608806; AllianceGenome:HGNC:23219 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 metalloexopeptidase activity. Predicted to be involved in proteolysis. Predicted to act upstream of or within response to bacterium. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 1.4), gall bladder (RPKM 1.0) and 24 other tissues See more Orthologs mouse all
NAALADL2-AS3, Official Symbol NAALADL2-AS3provided by HGNC Official Full Name NAALADL2 antisense RNA 3provided by HGNC Primary source HGNC:HGNC:41014 See related Ensembl:ENSG00000230292 AllianceGenome:HGNC:41014 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 Restricted expression toward testis (RPKM 1.4) See more
NAB1, Official Symbol NAB1provided by HGNC Official Full Name NGFI-A binding protein 1provided by HGNC Primary source HGNC:HGNC:7626 See related Ensembl:ENSG00000138386 MIM:600800; AllianceGenome:HGNC:7626 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 transcription coregulator activity. Predicted to be involved in regulation of transcription, DNA-templated. Predicted to act upstream of or within endochondral ossification; nervous system development; and regulation of epidermis development. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 20.8), esophagus (RPKM 13.9) and 25 other tissues See more Orthologs mouse all
NAB1P1, Official Symbol NAB1P1provided by HGNC Official Full Name NAB1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:55156 See related Ensembl:ENSG00000228717 AllianceGenome:HGNC:55156 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NAB2, Official Symbol NAB2provided by HGNC Official Full Name NGFI-A binding protein 2provided by HGNC Primary source HGNC:HGNC:7627 See related Ensembl:ENSG00000166886 MIM:602381; AllianceGenome:HGNC:7627 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 MADER Summary This gene encodes a member of the family of NGFI-A binding (NAB) proteins, which function in the nucleus to repress transcription induced by some members of the EGR (early growth response) family of transactivators. NAB proteins can homo- or hetero-multimerize with other EGR or NAB proteins through a conserved N-terminal domain, and repress transcription through two partially redundant C-terminal domains. Transcriptional repression by the encoded protein is mediated in part by interactions with the nucleosome remodeling and deactylase (NuRD) complex. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in endometrium (RPKM 17.8), ovary (RPKM 17.7) and 25 other tissues See more Orthologs mouse all
NABP1, Official Symbol NABP1provided by HGNC Official Full Name nucleic acid binding protein 1provided by HGNC Primary source HGNC:HGNC:26232 See related Ensembl:ENSG00000173559 MIM:612103; AllianceGenome:HGNC:26232 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 SSB2; OBFC2A; SOSS-B2; NABP1-OT1 Summary Single-stranded DNA (ssDNA)-binding proteins, such as OBFC2A, are ubiquitous and essential for a variety of DNA metabolic processes, including replication, recombination, and detection and repair of damage (Richard et al., 2008 [PubMed 18449195]).[supplied by OMIM, Jun 2008] Expression Broad expression in appendix (RPKM 17.5), spleen (RPKM 12.9) and 21 other tissues See more Orthologs mouse all
NABP2, Official Symbol NABP2provided by HGNC Official Full Name nucleic acid binding protein 2provided by HGNC Primary source HGNC:HGNC:28412 See related Ensembl:ENSG00000139579 MIM:612104; AllianceGenome:HGNC:28412 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 SSB1; hSSB1; OBFC2B; SOSS-B1 Summary Single-stranded DNA (ssDNA)-binding proteins, such as OBFC2B, are ubiquitous and essential for a variety of DNA metabolic processes, including replication, recombination, and detection and repair of damage (Richard et al., 2008 [PubMed 18449195]).[supplied by OMIM, Jun 2008] Expression Ubiquitous expression in brain (RPKM 8.5), adrenal (RPKM 8.0) and 25 other tissues See more Orthologs mouse all
NACA, Official Symbol NACAprovided by HGNC Official Full Name nascent polypeptide associated complex subunit alphaprovided by HGNC Primary source HGNC:HGNC:7629 See related Ensembl:ENSG00000196531 MIM:601234; AllianceGenome:HGNC:7629 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 HSD48; NACA1; skNAC; NAC-alpha Summary This gene encodes a protein that associates with basic transcription factor 3 (BTF3) to form the nascent polypeptide-associated complex (NAC). This complex binds to nascent proteins that lack a signal peptide motif as they emerge from the ribosome, blocking interaction with the signal recognition particle (SRP) and preventing mistranslocation to the endoplasmic reticulum. This protein is an IgE autoantigen in atopic dermatitis patients. Alternative splicing results in multiple transcript variants, but the full length nature of some of these variants, including those encoding very large proteins, has not been determined. There are multiple pseudogenes of this gene on different chromosomes. [provided by RefSeq, Feb 2016] Expression Ubiquitous expression in ovary (RPKM 104.2), bone marrow (RPKM 62.0) and 25 other tissues See more Orthologs mouse all
NACA2, Official Symbol NACA2provided by HGNC Official Full Name nascent polypeptide associated complex subunit alpha 2provided by HGNC Primary source HGNC:HGNC:23290 See related Ensembl:ENSG00000253506 MIM:609274; AllianceGenome:HGNC:23290 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 ANAC; NACAL Summary Predicted to enable unfolded protein binding activity. Predicted to be involved in protein targeting to membrane. Predicted to be located in nucleus. Predicted to be part of nascent polypeptide-associated complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
NACA3P, Official Symbol NACA3Pprovided by HGNC Official Full Name NACA family member 3, pseudogeneprovided by HGNC Primary source HGNC:HGNC:33442 See related Ensembl:ENSG00000121089 AllianceGenome:HGNC:33442 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 NACA3
NACA4P, Official Symbol NACA4Pprovided by HGNC Official Full Name NACA family member 4, pseudogeneprovided by HGNC Primary source HGNC:HGNC:24688 See related Ensembl:ENSG00000228224 AllianceGenome:HGNC:24688 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 FKSG17; NACAP1 Summary Predicted to enable unfolded protein binding activity. Predicted to be involved in protein targeting to membrane. Predicted to be part of nascent polypeptide-associated complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
NACAD, Official Symbol NACADprovided by HGNC Official Full Name NAC alpha domain containingprovided by HGNC Primary source HGNC:HGNC:22196 See related Ensembl:ENSG00000136274 MIM:619419; AllianceGenome:HGNC:22196 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 unfolded protein binding activity. Predicted to be involved in protein targeting to membrane. Predicted to be located in nucleus. Predicted to be part of nascent polypeptide-associated complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 25.2), ovary (RPKM 5.5) and 11 other tissues See more Orthologs mouse all
NACAP10, Official Symbol NACAP10provided by HGNC Official Full Name NACA pseudogene 10provided by HGNC Primary source HGNC:HGNC:53906 See related Ensembl:ENSG00000254253 AllianceGenome:HGNC:53906 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NACAP2, Official Symbol NACAP2provided by HGNC Official Full Name NACA pseudogene 2provided by HGNC Primary source HGNC:HGNC:49489 See related Ensembl:ENSG00000180230 AllianceGenome:HGNC:49489 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NACAP5, Official Symbol NACAP5provided by HGNC Official Full Name NACA pseudogene 5provided by HGNC Primary source HGNC:HGNC:49492 See related Ensembl:ENSG00000249488 AllianceGenome:HGNC:49492 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NACAP6, Official Symbol NACAP6provided by HGNC Official Full Name NACA pseudogene 6provided by HGNC Primary source HGNC:HGNC:49493 See related Ensembl:ENSG00000248403 AllianceGenome:HGNC:49493 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NACC1, Official Symbol NACC1provided by HGNC Official Full Name nucleus accumbens associated 1provided by HGNC Primary source HGNC:HGNC:20967 See related Ensembl:ENSG00000160877 MIM:610672; AllianceGenome:HGNC:20967 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 NAC1; BEND8; NAC-1; NECFM; BTBD30; BTBD14B Summary This gene encodes a member of the BTB/POZ protein family. BTB/POZ proteins are involved in several cellular processes including proliferation, apoptosis and transcription regulation. The encoded protein is a transcriptional repressor that plays a role in stem cell self-renewal and pluripotency maintenance. The encoded protein also suppresses transcription of the candidate tumor suppressor Gadd45GIP1, and expression of this gene may play a role in the progression of multiple types of cancer. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Feb 2012] Expression Ubiquitous expression in brain (RPKM 11.6), testis (RPKM 8.4) and 25 other tissues See more Orthologs mouse all
NACC2, Official Symbol NACC2provided by HGNC Official Full Name NACC family member 2provided by HGNC Primary source HGNC:HGNC:23846 See related Ensembl:ENSG00000148411 MIM:615786; AllianceGenome:HGNC:23846 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 RBB; BEND9; NAC-2; BTBD14; BTBD31; BTBD14A Summary Enables several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; histone deacetylase binding activity; and protein homodimerization activity. Involved in several processes, including negative regulation of G1/S transition of mitotic cell cycle by negative regulation of transcription from RNA polymerase II promoter; positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage; and protein homooligomerization. Located in chromatin; mitochondrion; and nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 17.8), fat (RPKM 7.6) and 24 other tissues See more Orthologs mouse all
NADK, Official Symbol NADKprovided by HGNC Official Full Name NAD kinaseprovided by HGNC Primary source HGNC:HGNC:29831 See related Ensembl:ENSG00000008130 MIM:611616; AllianceGenome:HGNC:29831 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 NADK1; dJ283E3.1 Summary NADK catalyzes the transfer of a phosphate group from ATP to NAD to generate NADP, which in its reduced form acts as an electron donor for biosynthetic reactions (Lerner et al., 2001 [PubMed 11594753]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in bone marrow (RPKM 24.4), spleen (RPKM 23.0) and 25 other tissues See more Orthologs mouse all
NADK2, Official Symbol NADK2provided by HGNC Official Full Name NAD kinase 2, mitochondrialprovided by HGNC Primary source HGNC:HGNC:26404 See related Ensembl:ENSG00000152620 MIM:615787; AllianceGenome:HGNC:26404 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 DECRD; MNADK; NADKD1; C5orf33 Summary This gene encodes a mitochondrial kinase that catalyzes the phosphorylation of NAD to yield NADP. Mutations in this gene result in 2,4-dienoyl-CoA reductase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014] Expression Broad expression in liver (RPKM 62.0), brain (RPKM 14.1) and 22 other tissues See more Orthologs mouse all
NADK2-AS1, Official Symbol NADK2-AS1provided by HGNC Official Full Name NADK2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41143 See related Ensembl:ENSG00000245711 AllianceGenome:HGNC:41143 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 NADKD1-AS1
NADSYN1, Official Symbol NADSYN1provided by HGNC Official Full Name NAD synthetase 1provided by HGNC Primary source HGNC:HGNC:29832 See related Ensembl:ENSG00000172890 MIM:608285; AllianceGenome:HGNC:29832 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 VCRL3 Summary Nicotinamide adenine dinucleotide (NAD) is a coenzyme in metabolic redox reactions, a precursor for several cell signaling molecules, and a substrate for protein posttranslational modifications. NAD synthetase (EC 6.3.5.1) catalyzes the final step in the biosynthesis of NAD from nicotinic acid adenine dinucleotide (NaAD).[supplied by OMIM, Apr 2004] Expression Ubiquitous expression in bone marrow (RPKM 25.3), duodenum (RPKM 20.8) and 25 other tissues See more Orthologs mouse all