psui3905/ncbi_genes_summary huggingface dataset:
NFASC, Official Symbol NFASCprovided by HGNC Official Full Name neurofascinprovided by HGNC Primary source HGNC:HGNC:29866 See related Ensembl:ENSG00000163531 MIM:609145; AllianceGenome:HGNC:29866 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 NF; NRCAML; NEDCPMD Summary This gene encodes an L1 family immunoglobulin cell adhesion molecule with multiple IGcam and fibronectin domains. The protein functions in neurite outgrowth, neurite fasciculation, and organization of the axon initial segment (AIS) and nodes of Ranvier on axons during early development. Both the AIS and nodes of Ranvier contain high densities of voltage-gated Na+ (Nav) channels which are clustered by interactions with cytoskeletal and scaffolding proteins including this protein, gliomedin, ankyrin 3 (ankyrin-G), and betaIV spectrin. This protein links the AIS extracellular matrix to the intracellular cytoskeleton. This gene undergoes extensive alternative splicing, and the full-length nature of some variants has not been determined.[provided by RefSeq, May 2009] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s). Expression Broad expression in brain (RPKM 17.7), kidney (RPKM 6.6) and 19 other tissues See more Orthologs mouse all
NFAT5, Official Symbol NFAT5provided by HGNC Official Full Name nuclear factor of activated T cells 5provided by HGNC Primary source HGNC:HGNC:7774 See related Ensembl:ENSG00000102908 MIM:604708; AllianceGenome:HGNC:7774 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 NFATZ; OREBP; NF-AT5; NFATL1; TONEBP Summary The product of this gene is a member of the nuclear factors of activated T cells family of transcription factors. Proteins belonging to this family play a central role in inducible gene transcription during the immune response. This protein regulates gene expression induced by osmotic stress in mammalian cells. Unlike monomeric members of this protein family, this protein exists as a homodimer and forms stable dimers with DNA elements. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in skin (RPKM 6.6), placenta (RPKM 5.9) and 25 other tissues See more Orthologs mouse all
NFATC1, Official Symbol NFATC1provided by HGNC Official Full Name nuclear factor of activated T cells 1provided by HGNC Primary source HGNC:HGNC:7775 See related Ensembl:ENSG00000131196 MIM:600489; AllianceGenome:HGNC:7775 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 NFAT2; NFATc; NF-ATC; NF-ATc1.2 Summary The product of this gene is a component of the nuclear factor of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation, and an inducible nuclear component. Proteins belonging to this family of transcription factors play a central role in inducible gene transcription during immune response. The product of this gene is an inducible nuclear component. It functions as a major molecular target for the immunosuppressive drugs such as cyclosporin A. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Different isoforms of this protein may regulate inducible expression of different cytokine genes. [provided by RefSeq, Jul 2013] Expression Broad expression in lymph node (RPKM 7.4), spleen (RPKM 6.0) and 24 other tissues See more Orthologs mouse all
NFATC2, Official Symbol NFATC2provided by HGNC Official Full Name nuclear factor of activated T cells 2provided by HGNC Primary source HGNC:HGNC:7776 See related Ensembl:ENSG00000101096 MIM:600490; AllianceGenome:HGNC:7776 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 JCOSL; NFAT1; NFATP Summary This gene is a member of the nuclear factor of activated T cells (NFAT) family. The product of this gene is a DNA-binding protein with a REL-homology region (RHR) and an NFAT-homology region (NHR). This protein is present in the cytosol and only translocates to the nucleus upon T cell receptor (TCR) stimulation, where it becomes a member of the nuclear factors of activated T cells transcription complex. This complex plays a central role in inducing gene transcription during the immune response. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Apr 2012] Expression Broad expression in gall bladder (RPKM 9.1), lymph node (RPKM 6.9) and 25 other tissues See more Orthologs mouse all
NFATC2IP, Official Symbol NFATC2IPprovided by HGNC Official Full Name nuclear factor of activated T cells 2 interacting proteinprovided by HGNC Primary source HGNC:HGNC:25906 See related Ensembl:ENSG00000176953 MIM:614525; AllianceGenome:HGNC:25906 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 ESC2; NIP45; RAD60 Summary Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 11.4), spleen (RPKM 10.6) and 25 other tissues See more Orthologs mouse all
NFATC3, Official Symbol NFATC3provided by HGNC Official Full Name nuclear factor of activated T cells 3provided by HGNC Primary source HGNC:HGNC:7777 See related Ensembl:ENSG00000072736 MIM:602698; AllianceGenome:HGNC:7777 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 NFAT4; NFATX; NF-AT4c; n339260 Summary The product of this gene is a member of the nuclear factors of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation and an inducible nuclear component. Other members of this family participate to form this complex also. The product of this gene plays a role in the regulation of gene expression in T cells and immature thymocytes. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Nov 2010] Expression Ubiquitous expression in testis (RPKM 17.4), lymph node (RPKM 16.5) and 25 other tissues See more Orthologs mouse all
NFATC4, Official Symbol NFATC4provided by HGNC Official Full Name nuclear factor of activated T cells 4provided by HGNC Primary source HGNC:HGNC:7778 See related Ensembl:ENSG00000100968 MIM:602699; AllianceGenome:HGNC:7778 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 NFAT3; NF-AT3; NF-ATC4 Summary This gene encodes a member of the nuclear factor of activated T cells (NFAT) protein family. The encoded protein is part of a DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor stimulation and an inducible nuclear component. NFAT proteins are activated by the calmodulin-dependent phosphatase, calcineurin. The encoded protein plays a role in the inducible expression of cytokine genes in T cells, especially in the induction of interleukin-2 and interleukin-4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] Expression Broad expression in ovary (RPKM 15.2), endometrium (RPKM 13.8) and 22 other tissues See more Orthologs mouse all
NFE2, Official Symbol NFE2provided by HGNC Official Full Name nuclear factor, erythroid 2provided by HGNC Primary source HGNC:HGNC:7780 See related Ensembl:ENSG00000123405 MIM:601490; AllianceGenome:HGNC:7780 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 p45; NF-E2 Summary Enables several functions, including WW domain binding activity; identical protein binding activity; and protein N-terminus binding activity. Contributes to cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including labyrinthine layer blood vessel development; negative regulation of bone mineralization; and negative regulation of syncytium formation by plasma membrane fusion. Part of protein-DNA complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in bone marrow (RPKM 31.8), spleen (RPKM 3.5) and 3 other tissues See more Orthologs mouse all
NFE2L1, Official Symbol NFE2L1provided by HGNC Official Full Name NFE2 like bZIP transcription factor 1provided by HGNC Primary source HGNC:HGNC:7781 See related Ensembl:ENSG00000082641 MIM:163260; AllianceGenome:HGNC:7781 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 NRF1; NRF-1; TCF11; LCR-F1 Summary This gene encodes a protein that is involved in globin gene expression in erythrocytes. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene, NFE2L1, and for "nuclear respiratory factor 1" which has an official symbol of NRF1. [provided by RefSeq, Jul 2008] 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 heart (RPKM 133.9), kidney (RPKM 94.6) and 24 other tissues See more Orthologs mouse all
NFE2L1-DT, Official Symbol NFE2L1-DTprovided by HGNC Official Full Name NFE2L1 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:54812 See related Ensembl:ENSG00000263412 AllianceGenome:HGNC:54812 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NFE2L2, Official Symbol NFE2L2provided by HGNC Official Full Name NFE2 like bZIP transcription factor 2provided by HGNC Primary source HGNC:HGNC:7782 See related Ensembl:ENSG00000116044 MIM:600492; AllianceGenome:HGNC:7782 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 NRF2; HEBP1; Nrf-2; IMDDHH Summary This gene encodes a transcription factor which is a member of a small family of basic leucine zipper (bZIP) proteins. The encoded transcription factor regulates genes which contain antioxidant response elements (ARE) in their promoters; many of these genes encode proteins involved in response to injury and inflammation which includes the production of free radicals. Multiple transcript variants encoding different isoforms have been characterized for this gene. [provided by RefSeq, Sep 2015] Expression Ubiquitous expression in esophagus (RPKM 93.8), thyroid (RPKM 52.1) and 24 other tissues See more Orthologs mouse all
NFE2L3, Official Symbol NFE2L3provided by HGNC Official Full Name NFE2 like bZIP transcription factor 3provided by HGNC Primary source HGNC:HGNC:7783 See related Ensembl:ENSG00000050344 MIM:604135; AllianceGenome:HGNC:7783 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 NRF3 Summary This gene encodes a member of the cap 'n' collar basic-region leucine zipper family of transcription factors. The encoded protein heterodimerizes with small musculoaponeurotic fibrosarcoma factors to bind antioxidant response elements in target genes. This protein is a membrane bound glycoprotein that is targeted to the endoplasmic reticulum and the nuclear envelope. Pseudogenes of this gene are found on chromosomes 16, 17, and 18. [provided by RefSeq, Mar 2009] Expression Broad expression in placenta (RPKM 30.4), appendix (RPKM 7.6) and 16 other tissues See more Orthologs mouse all
NFE4, Official Symbol NFE4provided by HGNC Official Full Name nuclear factor, erythroid 4provided by HGNC Primary source HGNC:HGNC:29902 See related Ensembl:ENSG00000230257 MIM:612133; AllianceGenome:HGNC:29902 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 NF-E4 Summary The erythroid-specific protein encoded by this gene, and the ubiquitous transcription factor CP2, form the stage selector protein (SSP) complex, which is involved in preferential expression of the gamma-globin genes in fetal erythroid cells. Alternate use of an in-frame upstream non-AUG (CUG) translation initiation codon, and a downstream AUG codon, results in two isoforms. While the long isoform (22 kDa) acts as an activator, the short isoform (14 kDa) has been shown to repress gamma-globin gene expression. This gene is located in an intron of the FBXL13 gene on the opposite strand. [provided by RefSeq, Jul 2008] Expression Biased expression in adrenal (RPKM 1.2), appendix (RPKM 0.3) and 3 other tissues See more Orthologs all
NFIA, Official Symbol NFIAprovided by HGNC Official Full Name nuclear factor I Aprovided by HGNC Primary source HGNC:HGNC:7784 See related Ensembl:ENSG00000162599 MIM:600727; AllianceGenome:HGNC:7784 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 CTF; NF1-A; NFI-A; NFI-L; BRMUTD; NF-I/A; DEL1P32P31; C1DELp32p31 Summary This gene encodes a member of the NF1 (nuclear factor 1) family of transcription factors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] Expression Ubiquitous expression in fat (RPKM 9.2), thyroid (RPKM 8.8) and 25 other tissues See more Orthologs mouse all
NFIA-AS1, Official Symbol NFIA-AS1provided by HGNC Official Full Name NFIA antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40402 See related Ensembl:ENSG00000237853 AllianceGenome:HGNC:40402 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward testis (RPKM 6.5) See more
NFIA-AS2, Official Symbol NFIA-AS2provided by HGNC Official Full Name NFIA antisense RNA 2provided by HGNC Primary source HGNC:HGNC:40401 See related Ensembl:ENSG00000237928 AllianceGenome:HGNC:40401 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
NFIB, Official Symbol NFIBprovided by HGNC Official Full Name nuclear factor I Bprovided by HGNC Primary source HGNC:HGNC:7785 See related Ensembl:ENSG00000147862 MIM:600728; AllianceGenome:HGNC:7785 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 CTF; MACID; NF1-B; NFI-B; NFIB2; NFIB3; NF-I/B; NFI-RED; HMGIC/NFIB Summary Enables DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and transcription regulator inhibitor activity. Involved in brain development; negative regulation of DNA binding activity; and regulation of transcription by RNA polymerase II. Located in fibrillar center and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 8.5), brain (RPKM 6.3) and 24 other tissues See more Orthologs mouse all
NFIC, Official Symbol NFICprovided by HGNC Official Full Name nuclear factor I Cprovided by HGNC Primary source HGNC:HGNC:7786 See related Ensembl:ENSG00000141905 MIM:600729; AllianceGenome:HGNC:7786 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 CTF; NFI; CTF5; NF-I Summary The protein encoded by this gene belongs to the CTF/NF-I family. These are dimeric DNA-binding proteins, and function as cellular transcription factors and as replication factors for adenovirus DNA replication. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011] Expression Ubiquitous expression in fat (RPKM 22.7), ovary (RPKM 18.1) and 25 other tissues See more Orthologs mouse all
NFIL3, Official Symbol NFIL3provided by HGNC Official Full Name nuclear factor, interleukin 3 regulatedprovided by HGNC Primary source HGNC:HGNC:7787 See related Ensembl:ENSG00000165030 MIM:605327; AllianceGenome:HGNC:7787 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 E4BP4; IL3BP1; NFIL3A; NF-IL3A Summary The protein encoded by this gene is a transcriptional regulator that binds as a homodimer to activating transcription factor (ATF) sites in many cellular and viral promoters. The encoded protein represses PER1 and PER2 expression and therefore plays a role in the regulation of circadian rhythm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2014] Expression Broad expression in bone marrow (RPKM 59.6), adrenal (RPKM 37.4) and 23 other tissues See more Orthologs mouse all
NFILZ, Official Symbol NFILZprovided by HGNC Official Full Name NFIL3 like basic leucine zipperprovided by HGNC Primary source HGNC:HGNC:52681 See related Ensembl:ENSG00000268480 AllianceGenome:HGNC:52681 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 LINC01862 Summary Predicted to enable DNA binding activity and DNA-binding transcription factor activity. Predicted to be involved in immune response; regulation of transcription, DNA-templated; and transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 2.1) See more Orthologs mouse all
NFIX, Official Symbol NFIXprovided by HGNC Official Full Name nuclear factor I Xprovided by HGNC Primary source HGNC:HGNC:7788 See related Ensembl:ENSG00000008441 MIM:164005; AllianceGenome:HGNC:7788 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 CTF; NF1A; MALNS; NF1-X; MRSHSS; NF-I/X; SOTOS2 Summary The protein encoded by this gene is a transcription factor that binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3 in viral and cellular promoters. The encoded protein can also stimulate adenovirus replication in vitro. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012] Expression Ubiquitous expression in brain (RPKM 36.5), fat (RPKM 32.4) and 23 other tissues See more Orthologs mouse all
NFKB1, Official Symbol NFKB1provided by HGNC Official Full Name nuclear factor kappa B subunit 1provided by HGNC Primary source HGNC:HGNC:7794 See related Ensembl:ENSG00000109320 MIM:164011; AllianceGenome:HGNC:7794 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 KBF1; EBP-1; NF-kB; CVID12; NF-kB1; NFKB-p50; NFkappaB; NF-kappaB; NFKB-p105; NF-kappa-B1; NF-kappabeta Summary This gene encodes a 105 kD protein which can undergo cotranslational processing by the 26S proteasome to produce a 50 kD protein. The 105 kD protein is a Rel protein-specific transcription inhibitor and the 50 kD protein is a DNA binding subunit of the NF-kappa-B (NFKB) protein complex. NFKB is a transcription regulator that is activated by various intra- and extra-cellular stimuli such as cytokines, oxidant-free radicals, ultraviolet irradiation, and bacterial or viral products. Activated NFKB translocates into the nucleus and stimulates the expression of genes involved in a wide variety of biological functions. Inappropriate activation of NFKB has been associated with a number of inflammatory diseases while persistent inhibition of NFKB leads to inappropriate immune cell development or delayed cell growth. NFKB is a critical regulator of the immediate-early response to viral infection. Alternative splicing results in multiple transcript variants encoding different isoforms, at least one of which is proteolytically processed. [provided by RefSeq, Aug 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity. Expression Ubiquitous expression in bone marrow (RPKM 27.7), appendix (RPKM 20.3) and 25 other tissues See more Orthologs mouse all
NFKB2, Official Symbol NFKB2provided by HGNC Official Full Name nuclear factor kappa B subunit 2provided by HGNC Primary source HGNC:HGNC:7795 See related Ensembl:ENSG00000077150 MIM:164012; AllianceGenome:HGNC:7795 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 p52; p100; H2TF1; LYT10; CVID10; LYT-10; NF-kB2; p49/p100 Summary This gene encodes a subunit of the transcription factor complex nuclear factor-kappa-B (NFkB). The NFkB complex is expressed in numerous cell types and functions as a central activator of genes involved in inflammation and immune function. The protein encoded by this gene can function as both a transcriptional activator or repressor depending on its dimerization partner. The p100 full-length protein is co-translationally processed into a p52 active form. Chromosomal rearrangements and translocations of this locus have been observed in B cell lymphomas, some of which may result in the formation of fusion proteins. There is a pseudogene for this gene on chromosome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] Expression Ubiquitous expression in appendix (RPKM 21.5), bone marrow (RPKM 20.6) and 25 other tissues See more Orthologs mouse all
NFKBIA, Official Symbol NFKBIAprovided by HGNC Official Full Name NFKB inhibitor alphaprovided by HGNC Primary source HGNC:HGNC:7797 See related Ensembl:ENSG00000100906 MIM:164008; AllianceGenome:HGNC:7797 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 IKBA; MAD-3; NFKBI; EDAID2 Summary This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with REL dimers to inhibit NF-kappa-B/REL complexes which are involved in inflammatory responses. The encoded protein moves between the cytoplasm and the nucleus via a nuclear localization signal and CRM1-mediated nuclear export. Mutations in this gene have been found in ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant disease. [provided by RefSeq, Aug 2011] Expression Broad expression in bone marrow (RPKM 430.4), ovary (RPKM 112.0) and 21 other tissues See more Orthologs mouse all
NFKBIB, Official Symbol NFKBIBprovided by HGNC Official Full Name NFKB inhibitor betaprovided by HGNC Primary source HGNC:HGNC:7798 See related Ensembl:ENSG00000104825 MIM:604495; AllianceGenome:HGNC:7798 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 IKBB; TRIP9 Summary The protein encoded by this gene belongs to the NF-kappa-B inhibitor family, which inhibit NF-kappa-B by complexing with, and trapping it in the cytoplasm. Phosphorylation of serine residues on these proteins by kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation of the NF-kappa-B, which translocates to the nucleus to function as a transcription factor. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jul 2011] Expression Ubiquitous expression in testis (RPKM 8.2), bone marrow (RPKM 7.5) and 25 other tissues See more Orthologs mouse all
NFKBID, Official Symbol NFKBIDprovided by HGNC Official Full Name NFKB inhibitor deltaprovided by HGNC Primary source HGNC:HGNC:15671 See related Ensembl:ENSG00000167604 MIM:618887; AllianceGenome:HGNC:15671 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 IkBNS; TA-NFKBH; IkappaBNS Summary Predicted to enable NF-kappaB binding activity. Predicted to be involved in T cell receptor signaling pathway; positive regulation of T-helper 17 cell differentiation; and regulation of gene expression. Predicted to act upstream of or within several processes, including negative regulation of NF-kappaB transcription factor activity; negative regulation of T cell differentiation in thymus; and positive regulation of thymocyte apoptotic process. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in bone marrow (RPKM 9.7), appendix (RPKM 2.8) and 19 other tissues See more Orthologs mouse all
NFKBIE, Official Symbol NFKBIEprovided by HGNC Official Full Name NFKB inhibitor epsilonprovided by HGNC Primary source HGNC:HGNC:7799 See related Ensembl:ENSG00000146232 MIM:604548; AllianceGenome:HGNC:7799 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 IKBE Summary The protein encoded by this gene binds to components of NF-kappa-B, trapping the complex in the cytoplasm and preventing it from activating genes in the nucleus. Phosphorylation of the encoded protein targets it for destruction by the ubiquitin pathway, which activates NF-kappa-B by making it available to translocate to the nucleus. [provided by RefSeq, Sep 2011] Expression Broad expression in bone marrow (RPKM 9.4), spleen (RPKM 9.3) and 25 other tissues See more Orthologs mouse all
NFKBIL1, Official Symbol NFKBIL1provided by HGNC Official Full Name NFKB inhibitor like 1provided by HGNC Primary source HGNC:HGNC:7800 See related Ensembl:ENSG00000204498 MIM:601022; AllianceGenome:HGNC:7800 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 IKBL; NFKBIL Summary This gene encodes a divergent member of the I-kappa-B family of proteins. Its function has not been determined. The gene lies within the major histocompatibility complex (MHC) class I region on chromosome 6. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009] Expression Ubiquitous expression in ovary (RPKM 7.9), fat (RPKM 7.6) and 25 other tissues See more Orthologs mouse all
NFKBIZ, Official Symbol NFKBIZprovided by HGNC Official Full Name NFKB inhibitor zetaprovided by HGNC Primary source HGNC:HGNC:29805 See related Ensembl:ENSG00000144802 MIM:608004; AllianceGenome:HGNC:29805 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 IKBZ; INAP; MAIL; ikB-zeta; ikappaBzeta; IkappaB-zeta; I-kappa-B-zeta Summary This gene is a member of the ankyrin-repeat family and is induced by lipopolysaccharide (LPS). The C-terminal portion of the encoded product which contains the ankyrin repeats, shares high sequence similarity with the I kappa B family of proteins. The latter are known to play a role in inflammatory responses to LPS by their interaction with NF-B proteins through ankyrin-repeat domains. Studies in mouse indicate that this gene product is one of the nuclear I kappa B proteins and an activator of IL-6 production. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in bone marrow (RPKM 120.3), urinary bladder (RPKM 31.0) and 18 other tissues See more Orthologs mouse all
NFRKB, Official Symbol NFRKBprovided by HGNC Official Full Name nuclear factor related to kappaB binding proteinprovided by HGNC Primary source HGNC:HGNC:7802 See related Ensembl:ENSG00000170322 MIM:164013; AllianceGenome:HGNC:7802 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 INO80G Summary Enables protease binding activity. Predicted to be involved in DNA recombination and DNA repair. Located in nucleoplasm. Colocalizes with Ino80 complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 11.1), ovary (RPKM 7.8) and 25 other tissues See more Orthologs mouse all
NFS1, Official Symbol NFS1provided by HGNC Official Full Name NFS1 cysteine desulfuraseprovided by HGNC Primary source HGNC:HGNC:15910 See related Ensembl:ENSG00000244005 MIM:603485; AllianceGenome:HGNC:15910 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 IscS; NIFS; COXPD52; HUSSY-08 Summary Iron-sulfur clusters are required for the function of many cellular enzymes. The proteins encoded by this gene supply inorganic sulfur to these clusters by removing the sulfur from cysteine, creating alanine in the process. This gene uses alternate in-frame translation initiation sites to generate mitochondrial forms and cytoplasmic/nuclear forms. Selection of the alternative initiation sites is determined by the cytosolic pH. The encoded proteins belong to the class-V family of pyridoxal phosphate-dependent aminotransferases. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010] Expression Ubiquitous expression in kidney (RPKM 16.1), testis (RPKM 12.1) and 25 other tissues See more Orthologs mouse all
NFU1, Official Symbol NFU1provided by HGNC Official Full Name NFU1 iron-sulfur cluster scaffoldprovided by HGNC Primary source HGNC:HGNC:16287 See related Ensembl:ENSG00000169599 MIM:608100; AllianceGenome:HGNC:16287 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 Nfu; NifU; HIRIP; MMDFS; MMDS1; NIFUC; CGI-33; HIRIP5 Summary This gene encodes a protein that is localized to mitochondria and plays a critical role in iron-sulfur cluster biogenesis. The encoded protein assembles and transfers 4Fe-4S clusters to target apoproteins including succinate dehydrogenase and lipoic acid synthase. Mutations in this gene are a cause of multiple mitochondrial dysfunctions syndrome-1, and pseudogenes of this gene are located on the short arms of chromosomes 1 and 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in fat (RPKM 30.5), kidney (RPKM 17.0) and 25 other tissues See more Orthologs mouse all
NFX1, Official Symbol NFX1provided by HGNC Official Full Name nuclear transcription factor, X-box binding 1provided by HGNC Primary source HGNC:HGNC:7803 See related Ensembl:ENSG00000086102 MIM:603255; AllianceGenome:HGNC:7803 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 NFX2; Tex42; TEG-42 Summary MHC class II gene expression is controlled primarily at the transcriptional level by transcription factors that bind to the X and Y boxes, two highly conserved elements in the proximal promoter of MHC class II genes. The protein encoded by this gene is a transcriptional repressor capable of binding to the conserved X box motif of HLA-DRA and other MHC class II genes in vitro. The protein may play a role in regulating the duration of an inflammatory response by limiting the period in which class II MHC molecules are induced by IFN-gamma. Three alternative splice variants, each of which encodes a different isoform, have been identified. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 8.4), lymph node (RPKM 6.5) and 25 other tissues See more Orthologs mouse all
NFXL1, Official Symbol NFXL1provided by HGNC Official Full Name nuclear transcription factor, X-box binding like 1provided by HGNC Primary source HGNC:HGNC:18726 See related Ensembl:ENSG00000170448 MIM:620488; AllianceGenome:HGNC:18726 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 OZFP; CDZFP; HOZFP; URCC5 Summary Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription, DNA-templated. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 11.1), thyroid (RPKM 5.9) and 25 other tissues See more Orthologs mouse all
NFYA, Official Symbol NFYAprovided by HGNC Official Full Name nuclear transcription factor Y subunit alphaprovided by HGNC Primary source HGNC:HGNC:7804 See related Ensembl:ENSG00000001167 MIM:189903; AllianceGenome:HGNC:7804 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 HAP2; CBF-A; CBF-B; NF-YA Summary The protein encoded by this gene is one subunit of a trimeric complex, forming a highly conserved transcription factor that binds to CCAAT motifs in the promoter regions in a variety of genes. Subunit A associates with a tight dimer composed of the B and C subunits, resulting in a trimer that binds to DNA with high specificity and affinity. The sequence specific interactions of the complex are made by the A subunit, suggesting a role as the regulatory subunit. In addition, there is evidence of post-transcriptional regulation in this gene product, either by protein degradation or control of translation. Further regulation is represented by alternative splicing in the glutamine-rich activation domain, with clear tissue-specific preferences for the two isoforms. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 5.4), brain (RPKM 3.2) and 25 other tissues See more Orthologs mouse all
NFYAP1, Official Symbol NFYAP1provided by HGNC Official Full Name nuclear transcription factor Y subunit alpha pseudogene 1provided by HGNC Primary source HGNC:HGNC:34078 See related AllianceGenome:HGNC:34078 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 NFYAP
NFYB, Official Symbol NFYBprovided by HGNC Official Full Name nuclear transcription factor Y subunit betaprovided by HGNC Primary source HGNC:HGNC:7805 See related Ensembl:ENSG00000120837 MIM:189904; AllianceGenome:HGNC:7805 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 HAP3; CBF-A; CBF-B; NF-YB Summary The protein encoded by this gene is one subunit of a trimeric complex, forming a highly conserved transcription factor that binds with high specificity to CCAAT motifs in the promoter regions in a variety of genes. This gene product, subunit B, forms a tight dimer with the C subunit, a prerequisite for subunit A association. The resulting trimer binds to DNA with high specificity and affinity. Subunits B and C each contain a histone-like motif. Observation of the histone nature of these subunits is supported by two types of evidence; protein sequence alignments and experiments with mutants. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in prostate (RPKM 10.4), endometrium (RPKM 9.3) and 25 other tissues See more Orthologs mouse all
NFYBP1, Official Symbol NFYBP1provided by HGNC Official Full Name NFYB pseudogene 1provided by HGNC Primary source HGNC:HGNC:54604 See related AllianceGenome:HGNC:54604 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NFYC, Official Symbol NFYCprovided by HGNC Official Full Name nuclear transcription factor Y subunit gammaprovided by HGNC Primary source HGNC:HGNC:7806 See related Ensembl:ENSG00000066136 MIM:605344; AllianceGenome:HGNC:7806 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 HSM; CBFC; HAP5; CBF-C; NF-YC; H1TF2A Summary This gene encodes one subunit of a trimeric complex forming a highly conserved transcription factor that binds with high specificity to CCAAT motifs in the promoters of a variety of genes. The encoded protein, subunit C, forms a tight dimer with the B subunit, a prerequisite for subunit A association. The resulting trimer binds to DNA with high specificity and affinity. Subunits B and C each contain a histone-like motif. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] Expression Ubiquitous expression in thyroid (RPKM 9.6), heart (RPKM 9.5) and 25 other tissues See more Orthologs mouse all
NFYC-AS1, Official Symbol NFYC-AS1provided by HGNC Official Full Name NFYC antisense RNA 1provided by HGNC Primary source HGNC:HGNC:49451 See related AllianceGenome:HGNC:49451 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 0808y08y
NGB, Official Symbol NGBprovided by HGNC Official Full Name neuroglobinprovided by HGNC Primary source HGNC:HGNC:14077 See related Ensembl:ENSG00000165553 MIM:605304; AllianceGenome:HGNC:14077 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes an oxygen-binding protein that is distantly related to members of the globin gene family. It is highly conserved among other vertebrates. It is expressed in the central and peripheral nervous system where it may be involved in increasing oxygen availability and providing protection under hypoxic/ischemic conditions. [provided by RefSeq, Jul 2008] Expression Biased expression in adrenal (RPKM 4.2), brain (RPKM 1.8) and 3 other tissues See more Orthologs mouse all
NGDN, Official Symbol NGDNprovided by HGNC Official Full Name neuroguidinprovided by HGNC Primary source HGNC:HGNC:20271 See related Ensembl:ENSG00000129460 MIM:610777; AllianceGenome:HGNC:20271 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 NGD; LCP5; CANu1; lpd-2; C14orf120 Summary Neuroguidin is an EIF4E (MIM 133440)-binding protein that interacts with CPEB (MIM 607342) and functions as a translational regulatory protein during development of the vertebrate nervous system (Jung et al., 2006 [PubMed 16705177]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in bone marrow (RPKM 17.4), ovary (RPKM 12.6) and 25 other tissues See more Orthologs mouse all
NGEF, Official Symbol NGEFprovided by HGNC Official Full Name neuronal guanine nucleotide exchange factorprovided by HGNC Primary source HGNC:HGNC:7807 See related Ensembl:ENSG00000066248 MIM:605991; AllianceGenome:HGNC:7807 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 EPHEXIN; ARHGEF27 Summary Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in several processes, including activation of GTPase activity; ephrin receptor signaling pathway; and negative regulation of dendritic spine morphogenesis. Predicted to be located in cytosol. Predicted to be active in glutamatergic synapse. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 32.1), duodenum (RPKM 14.9) and 8 other tissues See more Orthologs mouse all
NGF, Official Symbol NGFprovided by HGNC Official Full Name nerve growth factorprovided by HGNC Primary source HGNC:HGNC:7808 See related Ensembl:ENSG00000134259 MIM:162030; AllianceGenome:HGNC:7808 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 NGFB; HSAN5; Beta-NGF Summary This gene is a member of the NGF-beta family and encodes a secreted protein which homodimerizes and is incorporated into a larger complex. This protein has nerve growth stimulating activity and the complex is involved in the regulation of growth and the differentiation of sympathetic and certain sensory neurons. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy, type 5 (HSAN5), and dysregulation of this gene's expression is associated with allergic rhinitis. [provided by RefSeq, Jul 2008] Expression Broad expression in ovary (RPKM 1.3), heart (RPKM 0.5) and 18 other tissues See more Orthologs mouse all
NGF-AS1, Official Symbol NGF-AS1provided by HGNC Official Full Name NGF antisense RNA 1provided by HGNC Primary source HGNC:HGNC:53922 See related Ensembl:ENSG00000228035 AllianceGenome:HGNC:53922 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NGFR, Official Symbol NGFRprovided by HGNC Official Full Name nerve growth factor receptorprovided by HGNC Primary source HGNC:HGNC:7809 See related Ensembl:ENSG00000064300 MIM:162010; AllianceGenome:HGNC:7809 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 CD271; p75NTR; TNFRSF16; p75(NTR); Gp80-LNGFR Summary Nerve growth factor receptor contains an extracellular domain containing four 40-amino acid repeats with 6 cysteine residues at conserved positions followed by a serine/threonine-rich region, a single transmembrane domain, and a 155-amino acid cytoplasmic domain. The cysteine-rich region contains the nerve growth factor binding domain. [provided by RefSeq, Jul 2008] Expression Broad expression in spleen (RPKM 11.7), adrenal (RPKM 11.6) and 20 other tissues See more Orthologs mouse all
NGLY1, Official Symbol NGLY1provided by HGNC Official Full Name N-glycanase 1provided by HGNC Primary source HGNC:HGNC:17646 See related Ensembl:ENSG00000151092 MIM:610661; AllianceGenome:HGNC:17646 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 CDDG; PNG1; CDG1V; PNG-1; PNGase Summary This gene encodes an enzyme that catalyzes hydrolysis of an N(4)-(acetyl-beta-D-glucosaminyl) asparagine residue to N-acetyl-beta-D-glucosaminylamine and a peptide containing an aspartate residue. The encoded enzyme may play a role in the proteasome-mediated degradation of misfolded glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009] Expression Broad expression in testis (RPKM 28.0), lymph node (RPKM 11.3) and 25 other tissues See more Orthologs mouse all