psui3905/ncbi_genes_summary huggingface dataset:
NLRP3, Official Symbol NLRP3provided by HGNC Official Full Name NLR family pyrin domain containing 3provided by HGNC Primary source HGNC:HGNC:16400 See related Ensembl:ENSG00000162711 MIM:606416; AllianceGenome:HGNC:16400 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 AII; AVP; FCU; MWS; FCAS; KEFH; CIAS1; FCAS1; NALP3; C1orf7; CLR1.1; DFNA34; PYPAF1; AGTAVPRL Summary This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NLRP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. The SARS-CoV 3a protein, a transmembrane pore-forming viroporin, has been shown to activate the NLRP3 inflammasome via the formation of ion channels in macrophages. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, neonatal-onset multisystem inflammatory disease (NOMID), keratoendotheliitis fugax hereditarian, and deafness, autosomal dominant 34, with or without inflammation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid. [provided by RefSeq, Aug 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in cytokine storm inflammatory response. Expression Biased expression in bone marrow (RPKM 20.0), appendix (RPKM 6.0) and 9 other tissues See more Orthologs mouse all
NLRP3P1, Official Symbol NLRP3P1provided by HGNC Official Full Name NLR family pyrin domain containing 3 pseudogene 1provided by HGNC Primary source HGNC:HGNC:29886 See related AllianceGenome:HGNC:29886 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NOD13; NLRP3P
NLRP4, Official Symbol NLRP4provided by HGNC Official Full Name NLR family pyrin domain containing 4provided by HGNC Primary source HGNC:HGNC:22943 See related Ensembl:ENSG00000160505 MIM:609645; AllianceGenome:HGNC:22943 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 CT58; PAN2; RNH2; NALP4; PYPAF4; CLR19.5 Summary The protein encoded by this gene is a member of the nucleotide-binding and leucine-rich repeat receptor (NLR) family, and is predicted to contain an N-terminal pyrin effector domain (PYD), a centrally-located nucleotide-binding and oligomerization domain (NACHT) and C-terminal leucine-rich repeats (LRR). This gene product has a demonstrated role as a negative regulator of autophagy and type I interferon signaling pathways as a result of protein interactions with its NACHT domain. The PYD domain has also been shown to be important in the inhibition of NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells). [provided by RefSeq, Dec 2016] Expression Biased expression in testis (RPKM 3.5), lymph node (RPKM 0.8) and 1 other tissue See more Orthologs all
NLRP5, Official Symbol NLRP5provided by HGNC Official Full Name NLR family pyrin domain containing 5provided by HGNC Primary source HGNC:HGNC:21269 See related Ensembl:ENSG00000171487 MIM:609658; AllianceGenome:HGNC:21269 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 MATER; NALP5; PAN11; PYPAF8; CLR19.8; OZEMA19 Summary The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). Expression of this gene is restricted to the oocyte. A mouse gene that encodes a maternal oocyte protein, similar to this encoded protein, is required for normal early embryogenesis. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
NLRP6, Official Symbol NLRP6provided by HGNC Official Full Name NLR family pyrin domain containing 6provided by HGNC Primary source HGNC:HGNC:22944 See related Ensembl:ENSG00000174885 MIM:609650; AllianceGenome:HGNC:22944 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 AVR; NAVR; PAN3; NALP6; PYPAF5; CLR11.4; NAVR/AVR Summary The protein encoded by this gene binds arginine-vasopressin and may be involved in the arginine-vasopressin-mediated regulation of renal salt-water balance. The encoded protein also mediates inflammatory responses in the colon to allow recovery from intestinal epithelial damage and protects against tumorigenesis and the development of colitis. Finally, this protein can increase activation of NF-kappa-B, activation of CASP1 through interaction with ASC, and cAMP accumulation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013] Expression Biased expression in duodenum (RPKM 17.8), small intestine (RPKM 17.7) and 3 other tissues See more Orthologs mouse all
NLRP7, Official Symbol NLRP7provided by HGNC Official Full Name NLR family pyrin domain containing 7provided by HGNC Primary source HGNC:HGNC:22947 See related Ensembl:ENSG00000167634 MIM:609661; AllianceGenome:HGNC:22947 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 HYDM; PAN7; NALP7; NOD12; PYPAF3; CLR19.4 Summary This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Biased expression in testis (RPKM 2.5), lung (RPKM 0.4) and 7 other tissues See more Orthologs all
NLRP8, Official Symbol NLRP8provided by HGNC Official Full Name NLR family pyrin domain containing 8provided by HGNC Primary source HGNC:HGNC:22940 See related Ensembl:ENSG00000179709 MIM:609659; AllianceGenome:HGNC:22940 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 PAN4; NALP8; NOD16; CLR19.2 Summary This gene encodes a member of the nucleotide-binding oligomerization domain/ leucine rich repeat/ pyrin domain containing (NLRP) subfamily, which belongs to the Nod-like receptor family of proteins. NLRP genes play roles in the mammalian innate immune system through inflammasome formation and activation of caspases. In addition, NLRP genes have been found to function during mammalian reproduction. Consistent with a function during human preimplantation development, this gene is expressed at high levels in oocytes with decreased levels in embryos. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016] Expression Low expression observed in reference dataset See more Orthologs all
NLRP9, Official Symbol NLRP9provided by HGNC Official Full Name NLR family pyrin domain containing 9provided by HGNC Primary source HGNC:HGNC:22941 See related Ensembl:ENSG00000185792 MIM:609663; AllianceGenome:HGNC:22941 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 NOD6; NALP9; PAN12; CLR19.1 Summary The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008] Expression Biased expression in prostate (RPKM 1.0), testis (RPKM 0.4) and 9 other tissues See more Orthologs all
NLRX1, Official Symbol NLRX1provided by HGNC Official Full Name NLR family member X1provided by HGNC Primary source HGNC:HGNC:29890 See related Ensembl:ENSG00000160703 MIM:611947; AllianceGenome:HGNC:29890 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 NOD5; NOD9; NOD26; DLNB26; CLR11.3 Summary The protein encoded by this gene is a member of the NLR family and localizes to the outer mitochondrial membrane. The encoded protein is a regulator of mitochondrial antivirus responses. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2013] Expression Ubiquitous expression in esophagus (RPKM 15.5), skin (RPKM 7.2) and 25 other tissues See more Orthologs mouse all
NMB, Official Symbol NMBprovided by HGNC Official Full Name neuromedin Bprovided by HGNC Primary source HGNC:HGNC:7842 See related Ensembl:ENSG00000197696 MIM:162340; AllianceGenome:HGNC:7842 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 a member of the bombesin-like family of neuropeptides, which negatively regulate eating behavior. The encoded protein may regulate colonic smooth muscle contraction through binding to its cognate receptor, the neuromedin B receptor (NMBR). Polymorphisms of this gene may be associated with hunger, weight gain and obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015] Expression Biased expression in fat (RPKM 21.3), brain (RPKM 11.2) and 5 other tissues See more Orthologs mouse all
NMBR, Official Symbol NMBRprovided by HGNC Official Full Name neuromedin B receptorprovided by HGNC Primary source HGNC:HGNC:7843 See related Ensembl:ENSG00000135577 MIM:162341; AllianceGenome:HGNC:7843 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 BB1; BB1R; BRS1; NMB-R Summary This gene encodes a 7-transmembrane G protein-coupled receptor that binds neuromedin B, which is a growth factor and mitogen for gastrointestinal epithelial tissue and for normal and neoplastic lung. This receptor may play a role in smooth muscle contraction, neuronal responses, and the regulation of cell growth. Antagonists of this receptor have a potential therapeutic use in inhibiting tumor cell growth. Polymorphisms in this gene may be associated with a susceptibility for schizophrenia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016] Expression Low expression observed in reference dataset See more Orthologs mouse all
NMBR-AS1, Official Symbol NMBR-AS1provided by HGNC Official Full Name NMBR antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40406 See related AllianceGenome:HGNC:40406 Gene type ncRNA Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release
NMD3, Official Symbol NMD3provided by HGNC Official Full Name NMD3 ribosome export adaptorprovided by HGNC Primary source HGNC:HGNC:24250 See related Ensembl:ENSG00000169251 MIM:611021; AllianceGenome:HGNC:24250 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 CGI-07 Summary Ribosomal 40S and 60S subunits associate in the nucleolus and are exported to the cytoplasm. The protein encoded by this gene is involved in the passage of the 60S subunit through the nuclear pore complex and into the cytoplasm. Several transcript variants exist for this gene, but the full-length natures of only two have been described to date. [provided by RefSeq, Feb 2016] Expression Ubiquitous expression in bone marrow (RPKM 18.0), urinary bladder (RPKM 15.3) and 25 other tissues See more Orthologs mouse all
NMD3P1, Official Symbol NMD3P1provided by HGNC Official Full Name NMD3 ribosome export adaptor pseudogene 1provided by HGNC Primary source HGNC:HGNC:22672 See related AllianceGenome:HGNC:22672 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 NMD3P
NME1, Official Symbol NME1provided by HGNC Official Full Name NME/NM23 nucleoside diphosphate kinase 1provided by HGNC Primary source HGNC:HGNC:7849 See related Ensembl:ENSG00000239672 MIM:156490; AllianceGenome:HGNC:7849 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 NB; AWD; NBS; GAAD; NDKA; NM23; NDPKA; NDPK-A; NM23-H1 Summary This gene (NME1) was identified because of its reduced mRNA transcript levels in highly metastatic cells. Nucleoside diphosphate kinase (NDK) exists as a hexamer composed of 'A' (encoded by this gene) and 'B' (encoded by NME2) isoforms. Mutations in this gene have been identified in aggressive neuroblastomas. Two transcript variants encoding different isoforms have been found for this gene. Co-transcription of this gene and the neighboring downstream gene (NME2) generates naturally-occurring transcripts (NME1-NME2), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in appendix (RPKM 37.1), brain (RPKM 32.2) and 25 other tissues See more Orthologs all
NME1-NME2, Official Symbol NME1-NME2provided by HGNC Official Full Name NME1-NME2 readthroughprovided by HGNC Primary source HGNC:HGNC:33531 See related Ensembl:ENSG00000011052 AllianceGenome:HGNC:33531 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 NMELV; NM23-LV Summary This locus represents naturally occurring read-through transcription between the neighboring NME1 and NME2 genes. The significance of this read-through transcription and the function of the resulting protein product have not yet been determined. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2010] Expression Ubiquitous expression in colon (RPKM 115.4), ovary (RPKM 91.9) and 25 other tissues See more Orthologs all
NME1P1, Official Symbol NME1P1provided by HGNC Official Full Name NME/NM23 nucleoside diphosphate kinase 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:39904 See related Ensembl:ENSG00000237175 AllianceGenome:HGNC:39904 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NME2, Official Symbol NME2provided by HGNC Official Full Name NME/NM23 nucleoside diphosphate kinase 2provided by HGNC Primary source HGNC:HGNC:7850 See related Ensembl:ENSG00000243678 MIM:156491; AllianceGenome:HGNC:7850 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 PUF; NDKB; NDPKB; NM23B; NDPK-B; NM23-H2 Summary Nucleoside diphosphate kinase (NDK) exists as a hexamer composed of 'A' (encoded by NME1) and 'B' (encoded by this gene) isoforms. Multiple alternatively spliced transcript variants have been found for this gene. Read-through transcription from the neighboring upstream gene (NME1) generates naturally-occurring transcripts (NME1-NME2) that encode a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Nov 2010] Expression Ubiquitous expression in colon (RPKM 115.3), fat (RPKM 91.9) and 25 other tissues See more Orthologs all
NME2P2, Official Symbol NME2P2provided by HGNC Official Full Name NME2 pseudogene 2provided by HGNC Primary source HGNC:HGNC:54766 See related Ensembl:ENSG00000224443 AllianceGenome:HGNC:54766 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NME3, Official Symbol NME3provided by HGNC Official Full Name NME/NM23 nucleoside diphosphate kinase 3provided by HGNC Primary source HGNC:HGNC:7851 See related Ensembl:ENSG00000103024 MIM:601817; AllianceGenome:HGNC:7851 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 NDPKC; NDPK-C; NM23H3; DR-nm23; NM23-H3; c371H6.2 Summary Predicted to enable nucleoside diphosphate kinase activity. Predicted to be involved in apoptotic process and nucleotide metabolic process. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 24.8), fat (RPKM 18.6) and 25 other tissues See more Orthologs mouse all
NME4, Official Symbol NME4provided by HGNC Official Full Name NME/NM23 nucleoside diphosphate kinase 4provided by HGNC Primary source HGNC:HGNC:7852 See related Ensembl:ENSG00000103202 MIM:601818; AllianceGenome:HGNC:7852 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 NDPK-D; NM23H4; nm23-H4 Summary The nucleoside diphosphate (NDP) kinases (EC 2.7.4.6) are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and dioxynucleoside tri- and diphosphates. The enzymes are products of the nm23 gene family, which includes NME4 (Milon et al., 1997 [PubMed 9099850]).[supplied by OMIM, May 2008] Expression Ubiquitous expression in prostate (RPKM 37.4), fat (RPKM 31.4) and 25 other tissues See more Orthologs mouse all
NME5, Official Symbol NME5provided by HGNC Official Full Name NME/NM23 family member 5provided by HGNC Primary source HGNC:HGNC:7853 See related Ensembl:ENSG00000112981 MIM:603575; AllianceGenome:HGNC:7853 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 CILD48; NM23H5; RSPH23; NM23-H5 Summary Predicted to enable nucleoside diphosphate kinase activity. Predicted to be involved in negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway and spermatid development. Predicted to act upstream of or within cilium assembly; epithelial cilium movement involved in extracellular fluid movement; and ventricular system development. Predicted to be located in cilium. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 15.2), kidney (RPKM 4.4) and 8 other tissues See more Orthologs mouse all
NME6, Official Symbol NME6provided by HGNC Official Full Name NME/NM23 nucleoside diphosphate kinase 6provided by HGNC Primary source HGNC:HGNC:20567 See related Ensembl:ENSG00000172113 MIM:608294; AllianceGenome:HGNC:20567 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 NDK 6; NM23-H6; IPIA-ALPHA Summary Nucleoside diphosphate (NDP) kinases (EC 2.7.4.6), such as NME6, are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and dioxynucleoside tri- and diphosphates (Mehus et al., 1999 [PubMed 10453732]).[supplied by OMIM, Jul 2010] Expression Ubiquitous expression in thyroid (RPKM 3.8), ovary (RPKM 2.8) and 25 other tissues See more Orthologs mouse all
NME7, Official Symbol NME7provided by HGNC Official Full Name NME/NM23 family member 7provided by HGNC Primary source HGNC:HGNC:20461 See related Ensembl:ENSG00000143156 MIM:613465; AllianceGenome:HGNC:20461 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 NDK7; NDK 7; CFAP67; MN23H7; nm23-H7 Summary This gene encodes a member of the non-metastatic expressed family of nucleoside diphosphate kinases. Members of this family are enzymes that catalyzes phosphate transfer from nucleoside triphosphates to nucleoside diphosphates. This protein contains two kinase domains, one of which is involved in autophosphorylation and the other may be inactive. This protein localizes to the centrosome and functions as a component of the gamma-tubulin ring complex which plays a role in microtubule organization. Mutations in this gene may be associated with venous thromboembolism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016] Expression Broad expression in kidney (RPKM 30.7), gall bladder (RPKM 25.0) and 21 other tissues See more Orthologs mouse all
NME8, Official Symbol NME8provided by HGNC Official Full Name NME/NM23 family member 8provided by HGNC Primary source HGNC:HGNC:16473 See related Ensembl:ENSG00000086288 MIM:607421; AllianceGenome:HGNC:16473 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 CILD6; DNAI8; SPTRX2; TXNDC3; NM23-H8; sptrx-2; HEL-S-99 Summary This gene encodes a protein with an N-terminal thioredoxin domain and three C-terminal nucleoside diphosphate kinase (NDK) domains, but the NDK domains are thought to be catalytically inactive. The sea urchin ortholog of this gene encodes a component of sperm outer dynein arms, and the protein is implicated in ciliary function. Mutations in this gene are implicated in primary ciliary dyskinesia type 6.[provided by RefSeq, Nov 2009] Expression Biased expression in testis (RPKM 4.9), bone marrow (RPKM 3.6) and 3 other tissues See more Orthologs mouse all
NME9, Official Symbol NME9provided by HGNC Official Full Name NME/NM23 family member 9provided by HGNC Primary source HGNC:HGNC:21343 See related Ensembl:ENSG00000181322 MIM:618584; AllianceGenome:HGNC:21343 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 NXL2; TXL2; TXL-2; TXNDC6; NM23-H9 Summary Predicted to enable nucleoside diphosphate kinase activity. Predicted to be involved in nucleotide metabolic process. Predicted to be located in dynein axonemal particle. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 1.1), brain (RPKM 1.0) and 25 other tissues See more Orthologs mouse all
NMI, Official Symbol NMIprovided by HGNC Official Full Name N-myc and STAT interactorprovided by HGNC Primary source HGNC:HGNC:7854 See related Ensembl:ENSG00000123609 MIM:603525; AllianceGenome:HGNC:7854 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 NMYC interactor (NMI) encodes a protein that interacts with NMYC and CMYC (two members of the oncogene Myc family), and other transcription factors containing a Zip, HLH, or HLH-Zip motif. The NMI protein also interacts with all STATs except STAT2 and augments STAT-mediated transcription in response to cytokines IL2 and IFN-gamma. The NMI mRNA has low expression levels in all human fetal and adult tissues tested except brain and has high expression in cancer cell line-myeloid leukemias. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in appendix (RPKM 16.7), bone marrow (RPKM 15.4) and 24 other tissues See more Orthologs mouse all
NMNAT1, Official Symbol NMNAT1provided by HGNC Official Full Name nicotinamide nucleotide adenylyltransferase 1provided by HGNC Primary source HGNC:HGNC:17877 See related Ensembl:ENSG00000173614 MIM:608700; AllianceGenome:HGNC:17877 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 LCA9; NMNAT; PNAT1; SHILCA Summary This gene encodes an enzyme which catalyzes a key step in the biosynthesis of nicotinamide adenine dinucleotide (NAD). The encoded enzyme is one of several nicotinamide nucleotide adenylyltransferases, and is specifically localized to the cell nucleus. Activity of this protein leads to the activation of a nuclear deacetylase that functions in the protection of damaged neurons. Mutations in this gene have been associated with Leber congenital amaurosis 9. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes 1, 3, 4, 14, and 15. [provided by RefSeq, Jul 2014] Expression Ubiquitous expression in colon (RPKM 3.7), kidney (RPKM 3.0) and 25 other tissues See more Orthologs mouse all
NMNAT1P4, Official Symbol NMNAT1P4provided by HGNC Official Full Name NMNAT1 pseudogene 4provided by HGNC Primary source HGNC:HGNC:49166 See related AllianceGenome:HGNC:49166 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NMNAT1P5, Official Symbol NMNAT1P5provided by HGNC Official Full Name NMNAT1 pseudogene 5provided by HGNC Primary source HGNC:HGNC:49167 See related AllianceGenome:HGNC:49167 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NMNAT2, Official Symbol NMNAT2provided by HGNC Official Full Name nicotinamide nucleotide adenylyltransferase 2provided by HGNC Primary source HGNC:HGNC:16789 See related Ensembl:ENSG00000157064 MIM:608701; AllianceGenome:HGNC:16789 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 PNAT2; C1orf15 Summary This gene product belongs to the nicotinamide mononucleotide adenylyltransferase (NMNAT) enzyme family, members of which catalyze an essential step in NAD (NADP) biosynthetic pathway. Unlike the other human family member, which is localized to the nucleus, and is ubiquitously expressed; this enzyme is cytoplasmic, and is predominantly expressed in the brain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 32.6), heart (RPKM 7.5) and 5 other tissues See more Orthologs mouse all
NMNAT3, Official Symbol NMNAT3provided by HGNC Official Full Name nicotinamide nucleotide adenylyltransferase 3provided by HGNC Primary source HGNC:HGNC:20989 See related Ensembl:ENSG00000163864 MIM:608702; AllianceGenome:HGNC:20989 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 PNAT3; FKSG76; PNAT-3 Summary This gene encodes a member of the nicotinamide/nicotinic acid mononucleotide adenylyltransferase family. These enzymes use ATP to catalyze the synthesis of nicotinamide adenine dinucleotide or nicotinic acid adenine dinucleotide from nicotinamide mononucleotide or nicotinic acid mononucleotide, respectively. The encoded protein is localized to mitochondria and may also play a neuroprotective role as a molecular chaperone. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] Expression Broad expression in ovary (RPKM 2.3), testis (RPKM 2.2) and 24 other tissues See more Orthologs mouse all
NMRAL1, Official Symbol NMRAL1provided by HGNC Official Full Name NmrA like redox sensor 1provided by HGNC Primary source HGNC:HGNC:24987 See related Ensembl:ENSG00000153406 MIM:620004; AllianceGenome:HGNC:24987 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 HSCARG; SDR48A1 Summary This gene encodes an NADPH sensor protein that preferentially binds to NADPH. The encoded protein also negatively regulates the activity of NF-kappaB in a ubiquitylation-dependent manner. It plays a key role in cellular antiviral response by negatively regulating the interferon response factor 3-mediated expression of interferon beta. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015] Expression Ubiquitous expression in prostate (RPKM 6.2), ovary (RPKM 6.2) and 25 other tissues See more Orthologs mouse all
NMRK1, Official Symbol NMRK1provided by HGNC Official Full Name nicotinamide riboside kinase 1provided by HGNC Primary source HGNC:HGNC:26057 See related Ensembl:ENSG00000106733 MIM:608704; AllianceGenome:HGNC:26057 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 NRK1; C9orf95; bA235O14.2 Summary Nicotinamide adenine dinucleotide (NAD+) is essential for life in all organisms, both as a coenzyme for oxidoreductases and as a source of ADP-ribosyl groups used in various reactions. Nicotinic acid and nicotinamide, collectively known as niacin, are the vitamin precursors of NAD+. Nicotinamide riboside kinases, such as NRK1, function to synthesize NAD+ through nicotinamide mononucleotide using nicotinamide riboside as the precursor (Bieganowski and Brenner, 2004 [PubMed 15137942]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in thyroid (RPKM 7.5), skin (RPKM 6.5) and 25 other tissues See more Orthologs mouse all
NMRK2, Official Symbol NMRK2provided by HGNC Official Full Name nicotinamide riboside kinase 2provided by HGNC Primary source HGNC:HGNC:17871 See related Ensembl:ENSG00000077009 MIM:608705; AllianceGenome:HGNC:17871 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 MIBP; NRK2; ITGB1BP3 Summary Enables ribosylnicotinamide kinase activity and ribosylnicotinate kinase activity. Predicted to be involved in NAD metabolic process. Predicted to act upstream of or within negative regulation of myoblast differentiation. Located in nucleoplasm and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward heart (RPKM 167.4) See more Orthologs mouse all
NMS, Official Symbol NMSprovided by HGNC Official Full Name neuromedin Sprovided by HGNC Primary source HGNC:HGNC:32203 See related Ensembl:ENSG00000204640 MIM:619337; AllianceGenome:HGNC:32203 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 a member of the neuromedin family of neuropeptides. The encoded preproprotein is proteolytically processed to generate a biologically active neuropeptide that plays a role in the regulation of circadian rhythm, anorexigenic action, antidiuretic action, cardiovascular function and stimulation of oxytocin and vasopressin release. [provided by RefSeq, May 2016] Expression Low expression observed in reference dataset See more Orthologs mouse all
NMT1, Official Symbol NMT1provided by HGNC Official Full Name N-myristoyltransferase 1provided by HGNC Primary source HGNC:HGNC:7857 See related Ensembl:ENSG00000136448 MIM:160993; AllianceGenome:HGNC:7857 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 NMT; HsNMT1 Summary Myristate, a rare 14-carbon saturated fatty acid, is cotranslationally attached by an amide linkage to the N-terminal glycine residue of cellular and viral proteins with diverse functions. N-myristoyltransferase (NMT; EC 2.3.1.97) catalyzes the transfer of myristate from CoA to proteins. N-myristoylation appears to be irreversible and is required for full expression of the biologic activities of several N-myristoylated proteins, including the alpha subunit of the signal-transducing guanine nucleotide-binding protein (G protein) GO (GNAO1; MIM 139311) (Duronio et al., 1992 [PubMed 1570339]).[supplied by OMIM, Nov 2008] Expression Ubiquitous expression in brain (RPKM 21.5), thyroid (RPKM 17.0) and 25 other tissues See more Orthologs mouse all
NMT2, Official Symbol NMT2provided by HGNC Official Full Name N-myristoyltransferase 2provided by HGNC Primary source HGNC:HGNC:7858 See related Ensembl:ENSG00000152465 MIM:603801; AllianceGenome:HGNC:7858 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 one of two N-myristoyltransferase proteins. N-terminal myristoylation is a lipid modification that is involved in regulating the function and localization of signaling proteins. The encoded protein catalyzes the addition of a myristoyl group to the N-terminal glycine residue of many signaling proteins, including the human immunodeficiency virus type 1 (HIV-1) proteins, Gag and Nef. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015] Expression Ubiquitous expression in fat (RPKM 9.3), testis (RPKM 5.5) and 24 other tissues See more Orthologs mouse all
NMTRQ-TTG12-1, Official Symbol NMTRQ-TTG12-1provided by HGNC Official Full Name nuclear-encoded mitochondrial tRNA-Gln (TTG) 12-1provided by HGNC Primary source HGNC:HGNC:35051 See related Ensembl:ENSG00000242752 AllianceGenome:HGNC:35051 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 TRNAQ41P
NMTRS-TGA3-1, Official Symbol NMTRS-TGA3-1provided by HGNC Official Full Name nuclear-encoded mitochondrial tRNA-Ser (TGA) 3-1provided by HGNC Primary source HGNC:HGNC:35087 See related Ensembl:ENSG00000241225 AllianceGenome:HGNC:35087 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 TRNAS30P
NMU, Official Symbol NMUprovided by HGNC Official Full Name neuromedin Uprovided by HGNC Primary source HGNC:HGNC:7859 See related Ensembl:ENSG00000109255 MIM:605103; AllianceGenome:HGNC:7859 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 a member of the neuromedin family of neuropeptides. The encoded protein is a precursor that is proteolytically processed to generate a biologically active neuropeptide that plays a role in pain, stress, immune-mediated inflammatory diseases and feeding regulation. Increased expression of this gene was observed in renal, pancreatic and lung cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. Some of these isoforms may undergo similar processing to generate the mature peptide. [provided by RefSeq, Jul 2015] Expression Biased expression in esophagus (RPKM 5.6), skin (RPKM 5.5) and 6 other tissues See more Orthologs mouse all
NMUR1, Official Symbol NMUR1provided by HGNC Official Full Name neuromedin U receptor 1provided by HGNC Primary source HGNC:HGNC:4518 See related Ensembl:ENSG00000171596 MIM:604153; AllianceGenome:HGNC:4518 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 FM3; FM-3; GPC-R; GPR66; NMU1R; (FM-3) Summary Enables neuromedin U binding activity and neuromedin U receptor activity. Involved in several processes, including activation of phospholipase C activity; chloride transport; and second-messenger-mediated signaling. Is integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in fat (RPKM 2.5), lung (RPKM 1.6) and 20 other tissues See more Orthologs mouse all
NMUR2, Official Symbol NMUR2provided by HGNC Official Full Name neuromedin U receptor 2provided by HGNC Primary source HGNC:HGNC:16454 See related Ensembl:ENSG00000132911 MIM:605108; AllianceGenome:HGNC:16454 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 FM4; FM-4; TGR1; NMU2R; TGR-1; NMU-R2 Summary This gene encodes a protein from the G-protein coupled receptor 1 family. This protein is a receptor for neuromedin U, which is a neuropeptide that is widely distributed in the gut and central nervous system. This receptor plays an important role in the regulation of food intake and body weight. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
NNAT, Official Symbol NNATprovided by HGNC Official Full Name neuronatinprovided by HGNC Primary source HGNC:HGNC:7860 See related Ensembl:ENSG00000053438 MIM:603106; AllianceGenome:HGNC:7860 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 Peg5 Summary The protein encoded by this gene is a proteolipid that may be involved in the regulation of ion channels during brain development. The encoded protein may also play a role in forming and maintaining the structure of the nervous system. This gene is found within an intron of another gene, bladder cancer associated protein, but on the opposite strand. This gene is imprinted and is expressed only from the paternal allele. [provided by RefSeq, Apr 2016] Expression Biased expression in placenta (RPKM 54.6), brain (RPKM 50.1) and 3 other tissues See more Orthologs mouse all
NNMT, Official Symbol NNMTprovided by HGNC Official Full Name nicotinamide N-methyltransferaseprovided by HGNC Primary source HGNC:HGNC:7861 See related Ensembl:ENSG00000166741 MIM:600008; AllianceGenome:HGNC:7861 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 N-methylation is one method by which drug and other xenobiotic compounds are metabolized by the liver. This gene encodes the protein responsible for this enzymatic activity which uses S-adenosyl methionine as the methyl donor. [provided by RefSeq, Jul 2008] Expression Biased expression in liver (RPKM 188.3), appendix (RPKM 69.3) and 10 other tissues See more Orthologs mouse all
NNT, Official Symbol NNTprovided by HGNC Official Full Name nicotinamide nucleotide transhydrogenaseprovided by HGNC Primary source HGNC:HGNC:7863 See related Ensembl:ENSG00000112992 MIM:607878; AllianceGenome:HGNC:7863 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 GCCD4 Summary This gene encodes an integral protein of the inner mitochondrial membrane. The enzyme couples hydride transfer between NAD(H) and NADP(+) to proton translocation across the inner mitochondrial membrane. Under most physiological conditions, the enzyme uses energy from the mitochondrial proton gradient to produce high concentrations of NADPH. The resulting NADPH is used for biosynthesis and in free radical detoxification. [provided by RefSeq, Sep 2016] Expression Broad expression in heart (RPKM 59.4), liver (RPKM 33.2) and 24 other tissues See more Orthologs mouse all
NOA1, Official Symbol NOA1provided by HGNC Official Full Name nitric oxide associated 1provided by HGNC Primary source HGNC:HGNC:28473 See related Ensembl:ENSG00000084092 MIM:614919; AllianceGenome:HGNC:28473 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 MTG3; hNOA1; C4orf14; hAtNOS1; mAtNOS1 Summary The protein encoded by this gene is a nuclear-encoded GTPase that functions in the mitochondrion. Upon translation, this protein is imported into the nucleus and then into the nucleolus before being exported to the mitochondrion. The encoded protein is required for oxygen-dependent regulation of mitochondrial respiratory complexes and for mitochondrial protein synthesis. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in colon (RPKM 10.1), duodenum (RPKM 8.9) and 25 other tissues See more Orthologs mouse all
NOB1, Official Symbol NOB1provided by HGNC Official Full Name NIN1 (RPN12) binding protein 1 homologprovided by HGNC Primary source HGNC:HGNC:29540 See related Ensembl:ENSG00000141101 MIM:613586; AllianceGenome:HGNC:29540 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 ART-4; NOB1P; MST158; MSTP158; PSMD8BP1 Summary In yeast, over 200 protein and RNA cofactors are required for ribosome assembly, and these are generally conserved in eukaryotes. These factors orchestrate modification and cleavage of the initial 35S precursor rRNA transcript into the mature 18S, 5.8S, and 25S rRNAs, folding of the rRNA, and binding of ribosomal proteins and 5S RNA. Nob1 is involved in pre-rRNA processing. In a late cytoplasmic processing step, Nob1 cleaves a 20S rRNA intermediate at cleavage site D to produce the mature 18S rRNA (Lamanna and Karbstein, 2009 [PubMed 19706509]).[supplied by OMIM, Nov 2010] Expression Ubiquitous expression in ovary (RPKM 29.6), thyroid (RPKM 20.5) and 25 other tissues See more Orthologs mouse all
NOBOX, Official Symbol NOBOXprovided by HGNC Official Full Name NOBOX oogenesis homeoboxprovided by HGNC Primary source HGNC:HGNC:22448 See related Ensembl:ENSG00000106410 MIM:610934; AllianceGenome:HGNC:22448 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 OG2; OG-2; OG2X; POF5; TCAG_12042 Summary This homeobox gene encodes a transcription factor that is thought to play a role in oogenesis. In mice, it is essential for folliculogenesis and regulation of oocyte-specific genes. Defects in this gene result in premature ovarian failure type 5.[provided by RefSeq, May 2011] Expression Low expression observed in reference dataset See more Orthologs mouse all
NOC2L, Official Symbol NOC2Lprovided by HGNC Official Full Name NOC2 like nucleolar associated transcriptional repressorprovided by HGNC Primary source HGNC:HGNC:24517 See related Ensembl:ENSG00000188976 MIM:610770; AllianceGenome:HGNC:24517 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 NIR; NET7; NET15; PPP1R112 Summary Histone modification by histone acetyltransferases (HAT) and histone deacetylases (HDAC) can control major aspects of transcriptional regulation. NOC2L represents a novel HDAC-independent inhibitor of histone acetyltransferase (INHAT) (Hublitz et al., 2005 [PubMed 16322561]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in testis (RPKM 23.1), skin (RPKM 20.4) and 25 other tissues See more Orthologs mouse all