psui3905/ncbi_genes_summary huggingface dataset:
NQO1, Official Symbol NQO1provided by HGNC Official Full Name NAD(P)H quinone dehydrogenase 1provided by HGNC Primary source HGNC:HGNC:2874 See related Ensembl:ENSG00000181019 MIM:125860; AllianceGenome:HGNC:2874 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 DTD; QR1; DHQU; DIA4; NMOR1; NMORI Summary This gene is a member of the NAD(P)H dehydrogenase (quinone) family and encodes a cytoplasmic 2-electron reductase. This FAD-binding protein forms homodimers and reduces quinones to hydroquinones. This protein's enzymatic activity prevents the one electron reduction of quinones that results in the production of radical species. Mutations in this gene have been associated with tardive dyskinesia (TD), an increased risk of hematotoxicity after exposure to benzene, and susceptibility to various forms of cancer. Altered expression of this protein has been seen in many tumors and is also associated with Alzheimer's disease (AD). Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Expression Biased expression in stomach (RPKM 136.7), gall bladder (RPKM 67.3) and 11 other tissues See more Orthologs mouse all
NQO1-DT, Official Symbol NQO1-DTprovided by HGNC Official Full Name NQO1 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:55344 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 FASRL
NQO2, Official Symbol NQO2provided by HGNC Official Full Name N-ribosyldihydronicotinamide:quinone dehydrogenase 2provided by HGNC Primary source HGNC:HGNC:7856 See related Ensembl:ENSG00000124588 MIM:160998; AllianceGenome:HGNC:7856 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 QR2; DHQV; DIA6; NMOR2 Summary This gene encodes a member of the thioredoxin family of enzymes. It is a cytosolic and ubiquitously expressed flavoprotein that catalyzes the two-electron reduction of quinone substrates and uses dihydronicotinamide riboside as a reducing coenzyme. Mutations in this gene have been associated with neurodegenerative diseases and several cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Expression Broad expression in kidney (RPKM 43.3), fat (RPKM 18.6) and 24 other tissues See more Orthologs mouse all
NR0B1, Official Symbol NR0B1provided by HGNC Official Full Name nuclear receptor subfamily 0 group B member 1provided by HGNC Primary source HGNC:HGNC:7960 See related Ensembl:ENSG00000169297 MIM:300473; AllianceGenome:HGNC:7960 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 AHC; AHX; DSS; GTD; HHG; AHCH; DAX1; DAX-1; NROB1; SRXY2 Summary This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. [provided by RefSeq, Jul 2008] Expression Biased expression in testis (RPKM 9.2), adrenal (RPKM 6.6) and 1 other tissue See more Orthologs mouse all
NR0B2, Official Symbol NR0B2provided by HGNC Official Full Name nuclear receptor subfamily 0 group B member 2provided by HGNC Primary source HGNC:HGNC:7961 See related Ensembl:ENSG00000131910 MIM:604630; AllianceGenome:HGNC:7961 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 SHP; SHP1 Summary The protein encoded by this gene is an unusual orphan receptor that contains a putative ligand-binding domain but lacks a conventional DNA-binding domain. The gene product is a member of the nuclear hormone receptor family, a group of transcription factors regulated by small hydrophobic hormones, a subset of which do not have known ligands and are referred to as orphan nuclear receptors. The protein has been shown to interact with retinoid and thyroid hormone receptors, inhibiting their ligand-dependent transcriptional activation. In addition, interaction with estrogen receptors has been demonstrated, leading to inhibition of function. Studies suggest that the protein represses nuclear hormone receptor-mediated transactivation via two separate steps: competition with coactivators and the direct effects of its transcriptional repressor function. [provided by RefSeq, Jul 2008] Expression Biased expression in duodenum (RPKM 26.3), liver (RPKM 15.9) and 8 other tissues See more Orthologs mouse all
NR1D1, Official Symbol NR1D1provided by HGNC Official Full Name nuclear receptor subfamily 1 group D member 1provided by HGNC Primary source HGNC:HGNC:7962 See related Ensembl:ENSG00000126368 MIM:602408; AllianceGenome:HGNC:7962 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 EAR1; hRev; THRA1; THRAL; ear-1; REVERBA; REVERBalpha Summary This gene encodes a transcription factor that is a member of the nuclear receptor subfamily 1. The encoded protein is a ligand-sensitive transcription factor that negatively regulates the expression of core clock proteins. In particular this protein represses the circadian clock transcription factor aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL). This protein may also be involved in regulating genes that function in metabolic, inflammatory and cardiovascular processes. [provided by RefSeq, Jan 2013] Expression Ubiquitous expression in ovary (RPKM 21.5), brain (RPKM 21.4) and 24 other tissues See more Orthologs mouse all
NR1D2, Official Symbol NR1D2provided by HGNC Official Full Name nuclear receptor subfamily 1 group D member 2provided by HGNC Primary source HGNC:HGNC:7963 See related Ensembl:ENSG00000174738 MIM:602304; AllianceGenome:HGNC:7963 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 RVR; BD73; EAR-1R; REVERBB; REVERBbeta Summary This gene encodes a member of the nuclear hormone receptor family, specifically the NR1 subfamily of receptors. The encoded protein functions as a transcriptional repressor and may play a role in circadian rhythms and carbohydrate and lipid metabolism. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009] Expression Ubiquitous expression in thyroid (RPKM 35.4), ovary (RPKM 18.9) and 25 other tissues See more Orthologs mouse all
NR1H2, Official Symbol NR1H2provided by HGNC Official Full Name nuclear receptor subfamily 1 group H member 2provided by HGNC Primary source HGNC:HGNC:7965 See related Ensembl:ENSG00000131408 MIM:600380; AllianceGenome:HGNC:7965 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 NER; UNR; LXRB; LXR-b; NER-I; RIP15 Summary The liver X receptors, LXRA (NR1H3; MIM 602423) and LXRB, form a subfamily of the nuclear receptor superfamily and are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. The inducible LXRA is highly expressed in liver, adrenal gland, intestine, adipose tissue, macrophages, lung, and kidney, whereas LXRB is ubiquitously expressed. Ligand-activated LXRs form obligate heterodimers with retinoid X receptors (RXRs; see MIM 180245) and regulate expression of target genes containing LXR response elements (summary by Korf et al., 2009 [PubMed 19436111]).[supplied by OMIM, Jan 2010] Expression Ubiquitous expression in bone marrow (RPKM 38.7), spleen (RPKM 21.5) and 25 other tissues See more Orthologs mouse all
NR1H3, Official Symbol NR1H3provided by HGNC Official Full Name nuclear receptor subfamily 1 group H member 3provided by HGNC Primary source HGNC:HGNC:7966 See related Ensembl:ENSG00000025434 MIM:602423; AllianceGenome:HGNC:7966 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 LXRA; LXR-a; RLD-1 Summary The protein encoded by this gene belongs to the NR1 subfamily of the nuclear receptor superfamily. The NR1 family members are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. This protein is highly expressed in visceral organs, including liver, kidney and intestine. It forms a heterodimer with retinoid X receptor (RXR), and regulates expression of target genes containing retinoid response elements. Studies in mice lacking this gene suggest that it may play an important role in the regulation of cholesterol homeostasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Expression Ubiquitous expression in fat (RPKM 25.1), spleen (RPKM 16.7) and 23 other tissues See more Orthologs mouse all
NR1H4, Official Symbol NR1H4provided by HGNC Official Full Name nuclear receptor subfamily 1 group H member 4provided by HGNC Primary source HGNC:HGNC:7967 See related Ensembl:ENSG00000012504 MIM:603826; AllianceGenome:HGNC:7967 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 BAR; FXR; HRR1; HRR-1; PFIC5; RIP14 Summary This gene encodes a ligand-activated transcription factor that shares structural features in common with nuclear hormone receptor family members. This protein functions as a receptor for bile acids, and when bound to bile acids, binds to DNA and regulates the expression of genes involved in bile acid synthesis and transport. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016] Expression Biased expression in liver (RPKM 14.7), small intestine (RPKM 8.3) and 6 other tissues See more Orthologs mouse all
NR1H5P, Official Symbol NR1H5Pprovided by HGNC Official Full Name nuclear receptor subfamily 1 group H member 5, pseudogeneprovided by HGNC Primary source HGNC:HGNC:32673 See related Ensembl:ENSG00000227970 MIM:617386; AllianceGenome:HGNC:32673 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 Fxrb; NR1H5
NR1I2, Official Symbol NR1I2provided by HGNC Official Full Name nuclear receptor subfamily 1 group I member 2provided by HGNC Primary source HGNC:HGNC:7968 See related Ensembl:ENSG00000144852 MIM:603065; AllianceGenome:HGNC:7968 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 BXR; PAR; PRR; PXR; SAR; SXR; ONR1; PAR1; PAR2; PARq Summary This gene product belongs to the nuclear receptor superfamily, members of which are transcription factors characterized by a ligand-binding domain and a DNA-binding domain. The encoded protein is a transcriptional regulator of the cytochrome P450 gene CYP3A4, binding to the response element of the CYP3A4 promoter as a heterodimer with the 9-cis retinoic acid receptor RXR. It is activated by a range of compounds that induce CYP3A4, including dexamethasone and rifampicin. Several alternatively spliced transcripts encoding different isoforms, some of which use non-AUG (CUG) translation initiation codon, have been described for this gene. Additional transcript variants exist, however, they have not been fully characterized. [provided by RefSeq, Jul 2008] Expression Biased expression in small intestine (RPKM 14.5), duodenum (RPKM 13.0) and 4 other tissues See more Orthologs mouse all
NR1I3, Official Symbol NR1I3provided by HGNC Official Full Name nuclear receptor subfamily 1 group I member 3provided by HGNC Primary source HGNC:HGNC:7969 See related Ensembl:ENSG00000143257 MIM:603881; AllianceGenome:HGNC:7969 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 CAR; CAR1; MB67 Summary This gene encodes a member of the nuclear receptor superfamily, and is a key regulator of xenobiotic and endobiotic metabolism. The protein binds to DNA as a monomer or a heterodimer with the retinoid X receptor and regulates the transcription of target genes involved in drug metabolism and bilirubin clearance, such as cytochrome P450 family members. Unlike most nuclear receptors, this transcriptional regulator is constitutively active in the absence of ligand but is regulated by both agonists and inverse agonists. Ligand binding results in translocation of this protein to the nucleus, where it activates or represses target gene transcription. These ligands include bilirubin, a variety of foreign compounds, steroid hormones, and prescription drugs. In addition to drug metabolism, the CAR protein is also reported to regulate genes involved in glucose metabolism, lipid metabolism, cell proliferation, and circadian clock regulation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2020] Expression Biased expression in liver (RPKM 24.0), kidney (RPKM 3.5) and 6 other tissues See more Orthologs mouse all
NR2C1, Official Symbol NR2C1provided by HGNC Official Full Name nuclear receptor subfamily 2 group C member 1provided by HGNC Primary source HGNC:HGNC:7971 See related Ensembl:ENSG00000120798 MIM:601529; AllianceGenome:HGNC:7971 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 TR2 Summary This gene encodes a nuclear hormone receptor characterized by a highly conserved DNA binding domain (DBD), a variable hinge region, and a carboxy-terminal ligand binding domain (LBD) that is typical for all members of the steroid/thyroid hormone receptor superfamily. This protein also belongs to a large family of ligand-inducible transcription factors that regulate gene expression by binding to specific DNA sequences within promoters of target genes. Multiple alternatively spliced transcript variants have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 8.3), endometrium (RPKM 5.9) and 25 other tissues See more Orthologs mouse all
NR2C2, Official Symbol NR2C2provided by HGNC Official Full Name nuclear receptor subfamily 2 group C member 2provided by HGNC Primary source HGNC:HGNC:7972 See related Ensembl:ENSG00000177463 MIM:601426; AllianceGenome:HGNC:7972 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 TR4; TAK1 Summary This gene encodes a protein that belongs to the nuclear hormone receptor family. Members of this family act as ligand-activated transcription factors and function in many biological processes such as development, cellular differentiation and homeostasis. The activated receptor/ligand complex is translocated to the nucleus where it binds to hormone response elements of target genes. The protein encoded by this gene plays a role in protecting cells from oxidative stress and damage induced by ionizing radiation. The lack of a similar gene in mouse results in growth retardation, severe spinal curvature, subfertility, premature aging, and prostatic intraepithelial neoplasia (PIN) development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014] Expression Ubiquitous expression in brain (RPKM 10.5), thyroid (RPKM 9.7) and 25 other tissues See more Orthologs mouse all
NR2C2AP, Official Symbol NR2C2APprovided by HGNC Official Full Name nuclear receptor 2C2 associated proteinprovided by HGNC Primary source HGNC:HGNC:30763 See related Ensembl:ENSG00000184162 MIM:608719; AllianceGenome:HGNC:30763 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 TRA16 Summary Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 9.3), skin (RPKM 8.7) and 25 other tissues See more Orthologs mouse all
NR2E1, Official Symbol NR2E1provided by HGNC Official Full Name nuclear receptor subfamily 2 group E member 1provided by HGNC Primary source HGNC:HGNC:7973 See related Ensembl:ENSG00000112333 MIM:603849; AllianceGenome:HGNC:7973 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 TLL; TLX; XTLL Summary The protein encoded by this gene is an orphan receptor involved in retinal development. The encoded protein also regulates adult neural stem cell proliferation and may be involved in control of aggressive behavior. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015] Expression Restricted expression toward brain (RPKM 4.0) See more Orthologs mouse all
NR2E3, Official Symbol NR2E3provided by HGNC Official Full Name nuclear receptor subfamily 2 group E member 3provided by HGNC Primary source HGNC:HGNC:7974 See related Ensembl:ENSG00000278570 MIM:604485; AllianceGenome:HGNC:7974 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 PNR; RNR; rd7; ESCS; RP37 Summary This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic development, as well as in maintenance of proper cell function in adults. Members of this family are characterized by discrete domains that function in DNA and ligand binding. This gene encodes a retinal nuclear receptor that is a ligand-dependent transcription factor. Defects in this gene are a cause of enhanced S cone syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
NR2F1, Official Symbol NR2F1provided by HGNC Official Full Name nuclear receptor subfamily 2 group F member 1provided by HGNC Primary source HGNC:HGNC:7975 See related Ensembl:ENSG00000175745 MIM:132890; AllianceGenome:HGNC:7975 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 EAR3; BBOAS; EAR-3; SVP44; BBSOAS; ERBAL3; COUPTF1; TFCOUP1; COUP-TFI; TCFCOUP1 Summary The protein encoded by this gene is a nuclear hormone receptor and transcriptional regulator. The encoded protein acts as a homodimer and binds to 5'-AGGTCA-3' repeats. Defects in this gene are a cause of Bosch-Boonstra optic atrophy syndrome (BBOAS). [provided by RefSeq, Apr 2014] Expression Broad expression in placenta (RPKM 21.7), ovary (RPKM 21.4) and 21 other tissues See more Orthologs mouse all
NR2F1-AS1, Official Symbol NR2F1-AS1provided by HGNC Official Full Name NR2F1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:48622 See related Ensembl:ENSG00000237187 AllianceGenome:HGNC:48622 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 Broad expression in brain (RPKM 3.7), gall bladder (RPKM 2.2) and 20 other tissues See more
NR2F2, Official Symbol NR2F2provided by HGNC Official Full Name nuclear receptor subfamily 2 group F member 2provided by HGNC Primary source HGNC:HGNC:7976 See related Ensembl:ENSG00000185551 MIM:107773; AllianceGenome:HGNC:7976 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 ARP1; ARP-1; CHTD4; NF-E3; SRXX5; SVP40; COUPTF2; COUPTFB; TFCOUP2; COUPTFII Summary This gene encodes a member of the steroid thyroid hormone superfamily of nuclear receptors. The encoded protein is a ligand inducible transcription factor that is involved in the regulation of many different genes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] Expression Broad expression in ovary (RPKM 74.0), endometrium (RPKM 37.8) and 20 other tissues See more Orthologs mouse all
NR2F6, Official Symbol NR2F6provided by HGNC Official Full Name nuclear receptor subfamily 2 group F member 6provided by HGNC Primary source HGNC:HGNC:7977 See related Ensembl:ENSG00000160113 MIM:132880; AllianceGenome:HGNC:7977 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 EAR2; EAR-2; ERBAL2 Summary Enables DNA-binding transcription factor activity and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in colon (RPKM 27.8), stomach (RPKM 20.8) and 23 other tissues See more Orthologs mouse all
NR3C1, Official Symbol NR3C1provided by HGNC Official Full Name nuclear receptor subfamily 3 group C member 1provided by HGNC Primary source HGNC:HGNC:7978 See related Ensembl:ENSG00000113580 MIM:138040; AllianceGenome:HGNC:7978 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 GR; GCR; GRL; GCCR; GCRST Summary This gene encodes glucocorticoid receptor, which can function both as a transcription factor that binds to glucocorticoid response elements in the promoters of glucocorticoid responsive genes to activate their transcription, and as a regulator of other transcription factors. This receptor is typically found in the cytoplasm, but upon ligand binding, is transported into the nucleus. It is involved in inflammatory responses, cellular proliferation, and differentiation in target tissues. Mutations in this gene are associated with generalized glucocorticoid resistance. Alternative splicing of this gene results in transcript variants encoding either the same or different isoforms. Additional isoforms resulting from the use of alternate in-frame translation initiation sites have also been described, and shown to be functional, displaying diverse cytoplasm-to-nucleus trafficking patterns and distinct transcriptional activities (PMID:15866175). [provided by RefSeq, Feb 2011] Expression Ubiquitous expression in fat (RPKM 11.8), lung (RPKM 9.9) and 25 other tissues See more Orthologs mouse all
NR3C2, Official Symbol NR3C2provided by HGNC Official Full Name nuclear receptor subfamily 3 group C member 2provided by HGNC Primary source HGNC:HGNC:7979 See related Ensembl:ENSG00000151623 MIM:600983; AllianceGenome:HGNC:7979 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 MR; MCR; MLR; NR3C2VIT Summary This gene encodes the mineralocorticoid receptor, which mediates aldosterone actions on salt and water balance within restricted target cells. The protein functions as a ligand-dependent transcription factor that binds to mineralocorticoid response elements in order to transactivate target genes. Mutations in this gene cause autosomal dominant pseudohypoaldosteronism type I, a disorder characterized by urinary salt wasting. Defects in this gene are also associated with early onset hypertension with severe exacerbation in pregnancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Expression Broad expression in colon (RPKM 10.3), thyroid (RPKM 8.7) and 24 other tissues See more Orthologs mouse all
NR4A1, Official Symbol NR4A1provided by HGNC Official Full Name nuclear receptor subfamily 4 group A member 1provided by HGNC Primary source HGNC:HGNC:7980 See related Ensembl:ENSG00000123358 MIM:139139; AllianceGenome:HGNC:7980 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 HMR; N10; TR3; NP10; GFRP1; NAK-1; NGFIB; NUR77 Summary This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. Expression is induced by phytohemagglutinin in human lymphocytes and by serum stimulation of arrested fibroblasts. The encoded protein acts as a nuclear transcription factor. Translocation of the protein from the nucleus to mitochondria induces apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011] Expression Broad expression in adrenal (RPKM 103.3), ovary (RPKM 73.7) and 19 other tissues See more Orthologs mouse all
NR4A1AS, Official Symbol NR4A1ASprovided by HGNC Official Full Name NR4A1 antisense RNAprovided by HGNC Primary source HGNC:HGNC:54409 See related Ensembl:ENSG00000259884 AllianceGenome:HGNC:54409 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 lncMMPA; NR4A1-AS1
NR4A2, Official Symbol NR4A2provided by HGNC Official Full Name nuclear receptor subfamily 4 group A member 2provided by HGNC Primary source HGNC:HGNC:7981 See related Ensembl:ENSG00000153234 MIM:601828; AllianceGenome:HGNC:7981 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 NOT; RNR1; HZF-3; IDLDP; NURR1; TINUR Summary This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcription factor. Mutations in this gene have been associated with disorders related to dopaminergic dysfunction, including Parkinson disease, schizophernia, and manic depression. Misregulation of this gene may be associated with rheumatoid arthritis. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] Expression Broad expression in adrenal (RPKM 41.8), bone marrow (RPKM 25.5) and 15 other tissues See more Orthologs mouse all
NR4A3, Official Symbol NR4A3provided by HGNC Official Full Name nuclear receptor subfamily 4 group A member 3provided by HGNC Primary source HGNC:HGNC:7982 See related Ensembl:ENSG00000119508 MIM:600542; AllianceGenome:HGNC:7982 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 CHN; CSMF; NOR1; MINOR Summary This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcriptional activator. The protein can efficiently bind the NGFI-B Response Element (NBRE). Three different versions of extraskeletal myxoid chondrosarcomas (EMCs) are the result of reciprocal translocations between this gene and other genes. The translocation breakpoints are associated with Nuclear Receptor Subfamily 4, Group A, Member 3 (on chromosome 9) and either Ewing Sarcome Breakpoint Region 1 (on chromosome 22), RNA Polymerase II, TATA Box-Binding Protein-Associated Factor, 68-KD (on chromosome 17), or Transcription factor 12 (on chromosome 15). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] Expression Biased expression in adrenal (RPKM 28.0), urinary bladder (RPKM 16.9) and 13 other tissues See more Orthologs mouse all
NR5A1, Official Symbol NR5A1provided by HGNC Official Full Name nuclear receptor subfamily 5 group A member 1provided by HGNC Primary source HGNC:HGNC:7983 See related Ensembl:ENSG00000136931 MIM:184757; AllianceGenome:HGNC:7983 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 ELP; SF1; FTZ1; POF7; SF-1; AD4BP; FTZF1; SPGF8; SRXX4; SRXY3; hSF-1 Summary The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect. [provided by RefSeq, Jul 2008] Annotation information Note: SF1 (Gene ID: 7536) and NR5A1 (Gene ID: 2516) share the SF1 symbol/alias in common. SF1 is a widely used alternative name for nuclear receptor subfamily 5 group A member 1 (NR5A1), which can be confused with the official symbol for SF1 (splicing factor 1). [01 Jun 2018] Expression Biased expression in adrenal (RPKM 53.3), spleen (RPKM 52.8) and 2 other tissues See more Orthologs mouse all
NR5A2, Official Symbol NR5A2provided by HGNC Official Full Name nuclear receptor subfamily 5 group A member 2provided by HGNC Primary source HGNC:HGNC:7984 See related Ensembl:ENSG00000116833 MIM:604453; AllianceGenome:HGNC:7984 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 B1F; CPF; FTF; B1F2; LRH1; LRH-1; FTZ-F1; hB1F-2; FTZ-F1beta Summary The protein encoded by this gene is a DNA-binding zinc finger transcription factor and is a member of the fushi tarazu factor-1 subfamily of orphan nuclear receptors. The encoded protein is involved in the expression of genes for hepatitis B virus and cholesterol biosynthesis, and may be an important regulator of embryonic development. [provided by RefSeq, Jun 2016] Expression Biased expression in liver (RPKM 6.4), small intestine (RPKM 5.8) and 13 other tissues See more Orthologs mouse all
NR6A1, Official Symbol NR6A1provided by HGNC Official Full Name nuclear receptor subfamily 6 group A member 1provided by HGNC Primary source HGNC:HGNC:7985 See related Ensembl:ENSG00000148200 MIM:602778; AllianceGenome:HGNC:7985 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 RTR; GCNF; NR61; hRTR; CT150; GCNF1; hGCNF Summary This gene encodes an orphan nuclear receptor which is a member of the nuclear hormone receptor family. Its expression pattern suggests that it may be involved in neurogenesis and germ cell development. The protein can homodimerize and bind DNA, but in vivo targets have not been identified. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2013] Expression Biased expression in testis (RPKM 11.0), thyroid (RPKM 1.5) and 7 other tissues See more Orthologs mouse all
NRAD1, Official Symbol NRAD1provided by HGNC Official Full Name non-coding RNA in the aldehyde dehydrogenase 1A pathwayprovided by HGNC Primary source HGNC:HGNC:26981 See related AllianceGenome:HGNC:26981 Gene type ncRNA RefSeq status PREDICTED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LINC00284; NCRNA00284 Expression Biased expression in placenta (RPKM 1.4), kidney (RPKM 1.3) and 4 other tissues See more
NRAP, Official Symbol NRAPprovided by HGNC Official Full Name nebulin related anchoring proteinprovided by HGNC Primary source HGNC:HGNC:7988 See related Ensembl:ENSG00000197893 MIM:602873; AllianceGenome:HGNC:7988 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 N-RAP Summary Predicted to enable actin filament binding activity and muscle alpha-actinin binding activity. Predicted to be involved in cardiac muscle thin filament assembly. Predicted to be located in fascia adherens; muscle tendon junction; and myofibril. Predicted to be active in Z disc. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in heart (RPKM 131.4), prostate (RPKM 26.5) and 2 other tissues See more Orthologs mouse all
NRARP, Official Symbol NRARPprovided by HGNC Official Full Name NOTCH regulated ankyrin repeat proteinprovided by HGNC Primary source HGNC:HGNC:33843 See related Ensembl:ENSG00000198435 MIM:619987; AllianceGenome:HGNC:33843 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 Involved in Notch signaling pathway. Acts upstream of or within negative regulation of Notch signaling pathway and positive regulation of canonical Wnt signaling pathway. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
NRAS, Official Symbol NRASprovided by HGNC Official Full Name NRAS proto-oncogene, GTPaseprovided by HGNC Primary source HGNC:HGNC:7989 See related Ensembl:ENSG00000213281 MIM:164790; AllianceGenome:HGNC:7989 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 NS6; CMNS; KRAS; NCMS; ALPS4; N-ras; NRAS1 Summary This is an N-ras oncogene encoding a membrane protein that shuttles between the Golgi apparatus and the plasma membrane. This shuttling is regulated through palmitoylation and depalmitoylation by the ZDHHC9-GOLGA7 complex. The encoded protein, which has intrinsic GTPase activity, is activated by a guanine nucleotide-exchange factor and inactivated by a GTPase activating protein. Mutations in this gene have been associated with somatic rectal cancer, follicular thyroid cancer, autoimmune lymphoproliferative syndrome, Noonan syndrome, and juvenile myelomonocytic leukemia. [provided by RefSeq, Jun 2011] Expression Ubiquitous expression in bone marrow (RPKM 23.0), colon (RPKM 17.3) and 25 other tissues See more Orthologs mouse all
NRAV, Official Symbol NRAVprovided by HGNC Official Full Name negative regulator of antiviral responseprovided by HGNC Primary source HGNC:HGNC:48588 See related Ensembl:ENSG00000248008 MIM:616207; AllianceGenome:HGNC:48588 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 DYNLL1AS1; DYNLL1-AS1 Expression Broad expression in testis (RPKM 19.7), thyroid (RPKM 5.6) and 21 other tissues See more
NRBF2, Official Symbol NRBF2provided by HGNC Official Full Name nuclear receptor binding factor 2provided by HGNC Primary source HGNC:HGNC:19692 See related Ensembl:ENSG00000148572 MIM:616477; AllianceGenome:HGNC:19692 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 COPR; COPR1; COPR2; NRBF-2 Summary Involved in autophagy. Located in cytoplasm. Colocalizes with phosphatidylinositol 3-kinase complex, class III. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in appendix (RPKM 10.9), placenta (RPKM 10.7) and 25 other tissues See more Orthologs mouse all
NRBF2P2, Official Symbol NRBF2P2provided by HGNC Official Full Name nuclear receptor binding factor 2 pseudogene 2provided by HGNC Primary source HGNC:HGNC:44605 See related AllianceGenome:HGNC:44605 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NRBF2P3, Official Symbol NRBF2P3provided by HGNC Official Full Name nuclear receptor binding factor 2 pseudogene 3provided by HGNC Primary source HGNC:HGNC:44606 See related AllianceGenome:HGNC:44606 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NRBF2P4, Official Symbol NRBF2P4provided by HGNC Official Full Name nuclear receptor binding factor 2 pseudogene 4provided by HGNC Primary source HGNC:HGNC:44607 See related AllianceGenome:HGNC:44607 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NRBF2P5, Official Symbol NRBF2P5provided by HGNC Official Full Name nuclear receptor binding factor 2 pseudogene 5provided by HGNC Primary source HGNC:HGNC:44683 See related AllianceGenome:HGNC:44683 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NRBP1, Official Symbol NRBP1provided by HGNC Official Full Name nuclear receptor binding protein 1provided by HGNC Primary source HGNC:HGNC:7993 See related Ensembl:ENSG00000115216 MIM:606010; AllianceGenome:HGNC:7993 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 MADM; NRBP; BCON3; MUDPNP Summary Predicted to enable protein homodimerization activity. Involved in endoplasmic reticulum to Golgi vesicle-mediated transport. Located in endomembrane system. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in esophagus (RPKM 41.1), testis (RPKM 38.5) and 25 other tissues See more Orthologs mouse all
NRBP2, Official Symbol NRBP2provided by HGNC Official Full Name nuclear receptor binding protein 2provided by HGNC Primary source HGNC:HGNC:19339 See related Ensembl:ENSG00000185189 MIM:615563; AllianceGenome:HGNC:19339 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 TRG16; pp9320 Summary Predicted to enable protein serine/threonine kinase activity. Involved in negative regulation of macroautophagy. Predicted to be active in cytoplasm and endomembrane system. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 18.8), skin (RPKM 17.7) and 25 other tissues See more Orthologs mouse all
NRCAM, Official Symbol NRCAMprovided by HGNC Official Full Name neuronal cell adhesion moleculeprovided by HGNC Primary source HGNC:HGNC:7994 See related Ensembl:ENSG00000091129 MIM:601581; AllianceGenome:HGNC:7994 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 NEDNMS Summary Cell adhesion molecules (CAMs) are members of the immunoglobulin superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobulin-like C2-type domains and fibronectin type-III domains. This ankyrin-binding protein is involved in neuron-neuron adhesion and promotes directional signaling during axonal cone growth. This gene is also expressed in non-neural tissues and may play a general role in cell-cell communication via signaling from its intracellular domain to the actin cytoskeleton during directional cell migration. Allelic variants of this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 36.1), adrenal (RPKM 15.3) and 5 other tissues See more Orthologs mouse all
NRDC, Official Symbol NRDCprovided by HGNC Official Full Name nardilysin convertaseprovided by HGNC Primary source HGNC:HGNC:7995 See related Ensembl:ENSG00000078618 MIM:602651; AllianceGenome:HGNC:7995 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 NRD1; hNRD1; hNRD2 Summary This gene encodes a zinc-dependent endopeptidase that cleaves peptide substrates at the N-terminus of arginine residues in dibasic moieties and is a member of the peptidase M16 family. This protein interacts with heparin-binding EGF-like growth factor and plays a role in cell migration and proliferation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] Expression Ubiquitous expression in testis (RPKM 55.2), skin (RPKM 27.3) and 25 other tissues See more Orthologs mouse all
NRDE2, Official Symbol NRDE2provided by HGNC Official Full Name NRDE-2, necessary for RNA interference, domain containingprovided by HGNC Primary source HGNC:HGNC:20186 See related Ensembl:ENSG00000119720 MIM:618631; AllianceGenome:HGNC:20186 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 C14orf102 Summary Involved in several processes, including RNA splicing; negative regulation of RNA catabolic process; and positive regulation of RNA export from nucleus. Located in nuclear speck and nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in duodenum (RPKM 3.4), thyroid (RPKM 3.4) and 25 other tissues See more Orthologs mouse all
NREP, Official Symbol NREPprovided by HGNC Official Full Name neuronal regeneration related proteinprovided by HGNC Primary source HGNC:HGNC:16834 See related Ensembl:ENSG00000134986 MIM:607332; AllianceGenome:HGNC:16834 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 P311; PTZ17; SEZ17; D4S114; C5orf13; PRO1873 Summary Predicted to be involved in axon regeneration; regulation of neuron differentiation; and regulation of transforming growth factor beta receptor signaling pathway. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 38.4), placenta (RPKM 35.3) and 24 other tissues See more Orthologs mouse all
NREP-AS1, Official Symbol NREP-AS1provided by HGNC Official Full Name NREP antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40780 See related Ensembl:ENSG00000250095 AllianceGenome:HGNC:40780 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
NRF1, Official Symbol NRF1provided by HGNC Official Full Name nuclear respiratory factor 1provided by HGNC Primary source HGNC:HGNC:7996 See related Ensembl:ENSG00000106459 MIM:600879; AllianceGenome:HGNC:7996 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 ALPHA-PAL Summary This gene encodes a protein that homodimerizes and functions as a transcription factor which activates the expression of some key metabolic genes regulating cellular growth and nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication. The protein has also been associated with the regulation of neurite outgrowth. Alternative splicing results in multiple transcript variants. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene and for "nuclear factor (erythroid-derived 2)-like 1" which has an official symbol of NFE2L1. [provided by RefSeq, May 2014] Annotation information Note: NRF1 (Gene ID: 4899) and NFE2L1 (Gene ID: 4779) share the NRF1 symbol/alias in common. NRF1 is a widely used alternative name for nuclear factor, erythroid 2 like 1 (NFE2L1), which can be confused with the official symbol for nuclear respiratory factor 1 (NRF1). [05 Jul 2018] Expression Ubiquitous expression in ovary (RPKM 7.4), lymph node (RPKM 5.2) and 25 other tissues See more Orthologs mouse all