psui3905/ncbi_genes_summary huggingface dataset:
NBPF9, Official Symbol NBPF9provided by HGNC Official Full Name NBPF member 9provided by HGNC Primary source HGNC:HGNC:31991 See related Ensembl:ENSG00000269713 MIM:613999; AllianceGenome:HGNC:31991 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 AE01 Summary This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013] Expression Ubiquitous expression in skin (RPKM 26.6), ovary (RPKM 24.3) and 25 other tissues See more Orthologs all
NBR1, Official Symbol NBR1provided by HGNC Official Full Name NBR1 autophagy cargo receptorprovided by HGNC Primary source HGNC:HGNC:6746 See related Ensembl:ENSG00000188554 MIM:166945; AllianceGenome:HGNC:6746 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 IAI3B; M17S2; MIG19; 1A1-3B Summary The protein encoded by this gene was originally identified as an ovarian tumor antigen monitored in ovarian cancer. The encoded protein contains a B-box/coiled-coil motif, which is present in many genes with transformation potential. It functions as a specific autophagy receptor for the selective autophagic degradation of peroxisomes by forming intracellular inclusions with ubiquitylated autophagic substrates. This gene is located on a region of chromosome 17q21.1 that is in close proximity to the BRCA1 tumor suppressor gene. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014] Expression Ubiquitous expression in testis (RPKM 41.5), thyroid (RPKM 32.2) and 25 other tissues See more Orthologs mouse all
NBR2, Official Symbol NBR2provided by HGNC Official Full Name neighbor of BRCA1 lncRNA 2provided by HGNC Primary source HGNC:HGNC:20691 See related Ensembl:ENSG00000198496 MIM:618708; AllianceGenome:HGNC:20691 Gene type ncRNA RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NCRNA00192 Summary This gene was identified by its close proximity on chromosome 17 to tumor suppressor gene BRCA1. Experimental evidence indicates that the two genes share a bi-directional promoter. Transcription for either gene is controlled individually by distinct transcriptional repressor factors. A short (112 amino acid) open reading frame is observed which includes a region derived from a LINE1 element. A strong Kozak signal is not observed for the putative ORF and the stop codon is more than 55 nucleotides upstream of the last splice site for the transcript, suggesting that the transcript is subject to nonsense-mediated decay. Therefore, this gene does not appear to encode a protein. Glucose starvation induces the expression of this gene and the long non-coding RNA transcribed by it functions with AMP-activated protein kinase in mediating the energy stress response. [provided by RefSeq, Aug 2016] Expression Ubiquitous expression in thyroid (RPKM 6.8), spleen (RPKM 3.3) and 25 other tissues See more
NCALD, Official Symbol NCALDprovided by HGNC Official Full Name neurocalcin deltaprovided by HGNC Primary source HGNC:HGNC:7655 See related Ensembl:ENSG00000104490 MIM:606722; AllianceGenome:HGNC:7655 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of the neuronal calcium sensor (NCS) family of calcium-binding proteins. The protein contains an N-terminal myristoylation signal and four EF-hand calcium binding loops. The protein is cytosolic at resting calcium levels; however, elevated intracellular calcium levels induce a conformational change that exposes the myristoyl group, resulting in protein association with membranes and partial co-localization with the perinuclear trans-golgi network. The protein is thought to be a regulator of G protein-coupled receptor signal transduction. Several alternatively spliced variants of this gene have been determined, all of which encode the same protein; additional variants may exist but their biological validity has not been determined. [provided by RefSeq, Jul 2008] Expression Broad expression in brain (RPKM 22.6), salivary gland (RPKM 11.3) and 20 other tissues See more Orthologs mouse all
NCAM1, Official Symbol NCAM1provided by HGNC Official Full Name neural cell adhesion molecule 1provided by HGNC Primary source HGNC:HGNC:7656 See related Ensembl:ENSG00000149294 MIM:116930; AllianceGenome:HGNC:7656 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 CD56; NCAM; MSK39 Summary This gene encodes a cell adhesion protein which is a member of the immunoglobulin superfamily. The encoded protein is involved in cell-to-cell interactions as well as cell-matrix interactions during development and differentiation. The encoded protein plays a role in the development of the nervous system by regulating neurogenesis, neurite outgrowth, and cell migration. This protein is also involved in the expansion of T lymphocytes, B lymphocytes and natural killer (NK) cells which play an important role in immune surveillance. This protein plays a role in signal transduction by interacting with fibroblast growth factor receptors, N-cadherin and other components of the extracellular matrix and by triggering signalling cascades involving FYN-focal adhesion kinase (FAK), mitogen-activated protein kinase (MAPK), and phosphatidylinositol 3-kinase (PI3K). One prominent isoform of this gene, cell surface molecule CD56, plays a role in several myeloproliferative disorders such as acute myeloid leukemia and differential expression of this gene is associated with differential disease progression. For example, increased expression of CD56 is correlated with lower survival in acute myeloid leukemia patients whereas increased severity of COVID-19 is correlated with decreased abundance of CD56-expressing NK cells in peripheral blood. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [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 Biased expression in brain (RPKM 90.3), adrenal (RPKM 31.4) and 6 other tissues See more Orthologs mouse all
NCAM1-AS1, Official Symbol NCAM1-AS1provided by HGNC Official Full Name NCAM1 antisense RNA1provided by HGNC Primary source HGNC:HGNC:48675 See related AllianceGenome:HGNC:48675 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 Biased expression in brain (RPKM 16.6), adrenal (RPKM 7.3) and 7 other tissues See more
NCAM2, Official Symbol NCAM2provided by HGNC Official Full Name neural cell adhesion molecule 2provided by HGNC Primary source HGNC:HGNC:7657 See related Ensembl:ENSG00000154654 MIM:602040; AllianceGenome:HGNC:7657 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 NCAM21 Summary The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein and may function in selective fasciculation and zone-to-zone projection of the primary olfactory axons. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 13.1), adrenal (RPKM 3.2) and 3 other tissues See more Orthologs mouse all
NCAN, Official Symbol NCANprovided by HGNC Official Full Name neurocanprovided by HGNC Primary source HGNC:HGNC:2465 See related Ensembl:ENSG00000130287 MIM:600826; AllianceGenome:HGNC:2465 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 CSPG3 Summary Neurocan is a chondroitin sulfate proteoglycan thought to be involved in the modulation of cell adhesion and migration.[supplied by OMIM, Jul 2002] Expression Restricted expression toward brain (RPKM 74.5) See more Orthologs mouse all
NCAPD2, Official Symbol NCAPD2provided by HGNC Official Full Name non-SMC condensin I complex subunit D2provided by HGNC Primary source HGNC:HGNC:24305 See related Ensembl:ENSG00000010292 MIM:615638; AllianceGenome:HGNC:24305 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 CNAP1; CAP-D2; MCPH21; hCAP-D2 Summary Enables histone binding activity. Involved in mitotic chromosome condensation. Located in condensed chromosome; cytosol; and nucleoplasm. Part of condensin complex. Colocalizes with cytoplasm and nuclear chromosome. Implicated in primary autosomal recessive microcephaly. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 20.3), bone marrow (RPKM 14.5) and 24 other tissues See more Orthologs mouse all
NCAPD2P1, Official Symbol NCAPD2P1provided by HGNC Official Full Name non-SMC condensin I complex subunit D2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:43831 See related Ensembl:ENSG00000230356 AllianceGenome:HGNC:43831 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NCAPD3, Official Symbol NCAPD3provided by HGNC Official Full Name non-SMC condensin II complex subunit D3provided by HGNC Primary source HGNC:HGNC:28952 See related Ensembl:ENSG00000151503 MIM:609276; AllianceGenome:HGNC:28952 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 CAPD3; hcp-6; CAP-D3; MCPH22; hHCP-6; hCAP-D3 Summary Condensin complexes I and II play essential roles in mitotic chromosome assembly and segregation. Both condensins contain 2 invariant structural maintenance of chromosome (SMC) subunits, SMC2 (MIM 605576) and SMC4 (MIM 605575), but they contain different sets of non-SMC subunits. NCAPD3 is 1 of 3 non-SMC subunits that define condensin II (Ono et al., 2003 [PubMed 14532007]).[supplied by OMIM, Mar 2008] Expression Broad expression in prostate (RPKM 42.0), bone marrow (RPKM 7.1) and 20 other tissues See more Orthologs mouse all
NCAPG, Official Symbol NCAPGprovided by HGNC Official Full Name non-SMC condensin I complex subunit Gprovided by HGNC Primary source HGNC:HGNC:24304 See related Ensembl:ENSG00000109805 MIM:606280; AllianceGenome:HGNC:24304 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 CAPG; CHCG; YCG1; NY-MEL-3 Summary This gene encodes a subunit of the condensin complex, which is responsible for the condensation and stabilization of chromosomes during mitosis and meiosis. Phosphorylation of the encoded protein activates the condensin complex. There are pseudogenes for this gene on chromosomes 8 and 15. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] Expression Broad expression in bone marrow (RPKM 7.5), lymph node (RPKM 7.1) and 21 other tissues See more Orthologs mouse all
NCAPG2, Official Symbol NCAPG2provided by HGNC Official Full Name non-SMC condensin II complex subunit G2provided by HGNC Primary source HGNC:HGNC:21904 See related Ensembl:ENSG00000146918 MIM:608532; AllianceGenome:HGNC:21904 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 3KS; MTB; CAPG2; LUZP5; CAP-G2; hCAP-G2 Summary This gene encodes a protein that belongs to the Condensin2nSMC family of proteins. The encoded protein is a regulatory subunit of the condensin II complex which, along with the condensin I complex, plays a role in chromosome assembly and segregation during mitosis. A similar protein in mouse is required for early development of the embryo. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Expression Broad expression in testis (RPKM 7.7), bone marrow (RPKM 6.8) and 24 other tissues See more Orthologs mouse all
NCAPGP2, Official Symbol NCAPGP2provided by HGNC Official Full Name non-SMC condensin I complex subunit G pseudogene 2provided by HGNC Primary source HGNC:HGNC:51905 See related Ensembl:ENSG00000259749 AllianceGenome:HGNC:51905 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NCAPH, Official Symbol NCAPHprovided by HGNC Official Full Name non-SMC condensin I complex subunit Hprovided by HGNC Primary source HGNC:HGNC:1112 See related Ensembl:ENSG00000121152 MIM:602332; AllianceGenome:HGNC:1112 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 CAPH; BRRN1; CAP-H; MCPH23; NCAPH1 Summary This gene encodes a member of the barr gene family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. The protein encoded by this gene is associated with mitotic chromosomes, except during the early phase of chromosome condensation. During interphase, the protein has a distinct punctate nucleolar localization. Alternatively spliced transcript variants encoding different proteins have been described. [provided by RefSeq, Jul 2013] Expression Biased expression in testis (RPKM 8.6), bone marrow (RPKM 4.4) and 11 other tissues See more Orthologs mouse all
NCAPH2, Official Symbol NCAPH2provided by HGNC Official Full Name non-SMC condensin II complex subunit H2provided by HGNC Primary source HGNC:HGNC:25071 See related Ensembl:ENSG00000025770 MIM:611230; AllianceGenome:HGNC:25071 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 CAPH2 Summary This gene encodes one of the non-SMC subunits of the condensin II complex. This complex plays an essential role in mitotic chromosome assembly. Alternate splicing of this gene results in multiple transcript variants.[provided by RefSeq, May 2010] Expression Ubiquitous expression in bone marrow (RPKM 17.2), testis (RPKM 13.4) and 25 other tissues See more Orthologs mouse all
NCBP1, Official Symbol NCBP1provided by HGNC Official Full Name nuclear cap binding protein subunit 1provided by HGNC Primary source HGNC:HGNC:7658 See related Ensembl:ENSG00000136937 MIM:600469; AllianceGenome:HGNC:7658 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 NCBP; Sto1; CBP80 Summary The product of this gene is a component of the nuclear cap-binding protein complex (CBC), which binds to the monomethylated 5' cap of nascent pre-mRNA in the nucleoplasm. The encoded protein promotes high-affinity mRNA-cap binding and associates with the CTD of RNA polymerase II. The CBC promotes pre-mRNA splicing, 3'-end processing, RNA nuclear export, and nonsense-mediated mRNA decay. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 9.3), lymph node (RPKM 7.9) and 25 other tissues See more Orthologs mouse all
NCBP2, Official Symbol NCBP2provided by HGNC Official Full Name nuclear cap binding protein subunit 2provided by HGNC Primary source HGNC:HGNC:7659 See related Ensembl:ENSG00000114503 MIM:605133; AllianceGenome:HGNC:7659 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 CBC2; NIP1; CBP20; PIG55 Summary The product of this gene is a component of the nuclear cap-binding protein complex (CBC), which binds to the monomethylated 5' cap of nascent pre-mRNA in the nucleoplasm. The encoded protein has an RNP domain commonly found in RNA binding proteins, and contains the cap-binding activity. The CBC promotes pre-mRNA splicing, 3'-end processing, RNA nuclear export, and nonsense-mediated mRNA decay. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 25.7), thyroid (RPKM 22.3) and 25 other tissues See more Orthologs mouse all
NCBP2-AS1, Official Symbol NCBP2-AS1provided by HGNC Official Full Name NCBP2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40392 See related AllianceGenome:HGNC:40392 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NCBP2AS2, Official Symbol NCBP2AS2provided by HGNC Official Full Name NCBP2 antisense 2 (head to head)provided by HGNC Primary source HGNC:HGNC:25121 See related Ensembl:ENSG00000270170 AllianceGenome:HGNC:25121 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 HIAR; KRASIM; NCBP2-AS2 Orthologs mouse all
NCBP2L, Official Symbol NCBP2Lprovided by HGNC Official Full Name nuclear cap binding protein subunit 2 likeprovided by HGNC Primary source HGNC:HGNC:31795 See related Ensembl:ENSG00000170935 AllianceGenome:HGNC:31795 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 dJ820B18.1 Summary Predicted to enable RNA cap binding activity. Predicted to be involved in mRNA splicing, via spliceosome. Predicted to be part of nuclear cap binding activity complex. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
NCBP3, Official Symbol NCBP3provided by HGNC Official Full Name nuclear cap binding subunit 3provided by HGNC Primary source HGNC:HGNC:24612 See related Ensembl:ENSG00000074356 MIM:616624; AllianceGenome:HGNC:24612 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 ELG; C17orf85; HSA277841 Summary Enables RNA 7-methylguanosine cap binding activity and mRNA binding activity. Involved in defense response to virus. Located in cytoplasm and nuclear speck. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 6.9), placenta (RPKM 6.6) and 25 other tissues See more Orthologs mouse all
NCCRP1, Official Symbol NCCRP1provided by HGNC Official Full Name NCCRP1, F-box associated domain containingprovided by HGNC Primary source HGNC:HGNC:33739 See related Ensembl:ENSG00000188505 MIM:615901; AllianceGenome:HGNC:33739 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 FBXO50; NCCRP-1 Summary Predicted to contribute to ubiquitin protein ligase activity. Involved in positive regulation of cell population proliferation. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in esophagus (RPKM 89.0) and skin (RPKM 44.9) See more Orthologs mouse all
NCDN, Official Symbol NCDNprovided by HGNC Official Full Name neurochondrinprovided by HGNC Primary source HGNC:HGNC:17597 See related Ensembl:ENSG00000020129 MIM:608458; AllianceGenome:HGNC:17597 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 NEDIES Summary This gene encodes a leucine-rich cytoplasmic protein, which is highly similar to a mouse protein that negatively regulates Ca/calmodulin-dependent protein kinase II phosphorylation and may be essential for spatial learning processes. Several alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 97.7), adrenal (RPKM 7.8) and 6 other tissues See more Orthologs mouse all
NCEH1, Official Symbol NCEH1provided by HGNC Official Full Name neutral cholesterol ester hydrolase 1provided by HGNC Primary source HGNC:HGNC:29260 See related Ensembl:ENSG00000144959 MIM:613234; AllianceGenome:HGNC:29260 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 NCEH; AADACL1 Summary Predicted to enable hydrolase activity. Predicted to be involved in ether lipid metabolic process. Predicted to act upstream of or within SMAD protein signal transduction; protein dephosphorylation; and xenobiotic metabolic process. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 15.5), adrenal (RPKM 10.5) and 23 other tissues See more Orthologs mouse all
NCF1, Official Symbol NCF1provided by HGNC Official Full Name neutrophil cytosolic factor 1provided by HGNC Primary source HGNC:HGNC:7660 See related Ensembl:ENSG00000158517 MIM:608512; AllianceGenome:HGNC:7660 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 CGD1; NCF1A; NOXO2; p47phox; SH3PXD1A Summary The protein encoded by this gene is a 47 kDa cytosolic subunit of neutrophil NADPH oxidase. This oxidase is a multicomponent enzyme that is activated to produce superoxide anion. Mutations in this gene have been associated with chronic granulomatous disease. [provided by RefSeq, Jul 2008] Expression Biased expression in bone marrow (RPKM 86.3), spleen (RPKM 53.3) and 10 other tissues See more Orthologs mouse all
NCF1B, Official Symbol NCF1Bprovided by HGNC Official Full Name neutrophil cytosolic factor 1B (pseudogene)provided by HGNC Primary source HGNC:HGNC:32522 See related Ensembl:ENSG00000290838 AllianceGenome:HGNC:32522 Gene type pseudo RefSeq status PROVISIONAL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NCF-1B; SH3PXD1B Summary Predicted to enable superoxide-generating NADPH oxidase activator activity. Predicted to be involved in respiratory burst and superoxide anion generation. Predicted to be part of NADPH oxidase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in bone marrow (RPKM 76.4), spleen (RPKM 37.7) and 9 other tissues See more
NCF1C, Official Symbol NCF1Cprovided by HGNC Official Full Name neutrophil cytosolic factor 1C (pseudogene)provided by HGNC Primary source HGNC:HGNC:32523 See related Ensembl:ENSG00000165178 AllianceGenome:HGNC:32523 Gene type pseudo RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SH3PXD1C Summary The neutrophil cytosolic factor 1 (NCF1) gene encodes the 47 kDa cytosolic subunit of neutrophil NADPH oxidase, which produces superoxide anion. The NCF1 gene is located in close proximity to two highly similar, multi-exon pseudogenes at chromosome 7q11.23, corresponding to this gene record and GeneID:654816. The two pseudogenes contain a dinucleotide deletion (delta-GT) in exon 2 that results in a frameshift and truncation of the open reading frame, and neither pseudogene is likely to express a protein. Recombination events between the pseudogenes and the functional NCF1 gene can inactivate the NCF1 gene and result in chronic granulomatous disease. [provided by RefSeq, Nov 2009] Expression Biased expression in bone marrow (RPKM 81.6), spleen (RPKM 45.1) and 10 other tissues See more
NCF2, Official Symbol NCF2provided by HGNC Official Full Name neutrophil cytosolic factor 2provided by HGNC Primary source HGNC:HGNC:7661 See related Ensembl:ENSG00000116701 MIM:608515; AllianceGenome:HGNC:7661 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 NCF-2; NOXA2; P67PHOX; P67-PHOX Summary This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in this gene, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease, a disease that causes recurrent infections by catalase-positive organisms. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010] Expression Broad expression in bone marrow (RPKM 41.9), appendix (RPKM 36.2) and 15 other tissues See more Orthologs mouse all
NCF4, Official Symbol NCF4provided by HGNC Official Full Name neutrophil cytosolic factor 4provided by HGNC Primary source HGNC:HGNC:7662 See related Ensembl:ENSG00000100365 MIM:601488; AllianceGenome:HGNC:7662 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 NCF; CGD3; P40PHOX; SH3PXD4 Summary The protein encoded by this gene is a cytosolic regulatory component of the superoxide-producing phagocyte NADPH-oxidase, a multicomponent enzyme system important for host defense. This protein is preferentially expressed in cells of myeloid lineage. It interacts primarily with neutrophil cytosolic factor 2 (NCF2/p67-phox) to form a complex with neutrophil cytosolic factor 1 (NCF1/p47-phox), which further interacts with the small G protein RAC1 and translocates to the membrane upon cell stimulation. This complex then activates flavocytochrome b, the membrane-integrated catalytic core of the enzyme system. The PX domain of this protein can bind phospholipid products of the PI(3) kinase, which suggests its role in PI(3) kinase-mediated signaling events. The phosphorylation of this protein was found to negatively regulate the enzyme activity. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] Expression Biased expression in bone marrow (RPKM 51.6), appendix (RPKM 18.9) and 11 other tissues See more Orthologs mouse all
NCF4-AS1, Official Symbol NCF4-AS1provided by HGNC Official Full Name NCF4 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40393 See related Ensembl:ENSG00000183822 AllianceGenome:HGNC:40393 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
NCK1, Official Symbol NCK1provided by HGNC Official Full Name NCK adaptor protein 1provided by HGNC Primary source HGNC:HGNC:7664 See related Ensembl:ENSG00000158092 MIM:600508; AllianceGenome:HGNC:7664 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 NCK; nck-1; NCKalpha Summary The protein encoded by this gene is one of the signaling and transforming proteins containing Src homology 2 and 3 (SH2 and SH3) domains. It is located in the cytoplasm and is an adaptor protein involved in transducing signals from receptor tyrosine kinases to downstream signal recipients such as RAS. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Jun 2010] Expression Ubiquitous expression in lymph node (RPKM 10.1), fat (RPKM 9.3) and 25 other tissues See more Orthologs mouse all
NCK2, Official Symbol NCK2provided by HGNC Official Full Name NCK adaptor protein 2provided by HGNC Primary source HGNC:HGNC:7665 See related Ensembl:ENSG00000071051 MIM:604930; AllianceGenome:HGNC:7665 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 GRB4; NCKbeta Summary This gene encodes a member of the NCK family of adaptor proteins. The protein contains three SH3 domains and one SH2 domain. The protein has no known catalytic function but has been shown to bind and recruit various proteins involved in the regulation of receptor protein tyrosine kinases. It is through these regulatory activities that this protein is believed to be involved in cytoskeletal reorganization. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in duodenum (RPKM 14.7), spleen (RPKM 14.6) and 25 other tissues See more Orthologs mouse all
NCKAP1, Official Symbol NCKAP1provided by HGNC Official Full Name NCK associated protein 1provided by HGNC Primary source HGNC:HGNC:7666 See related Ensembl:ENSG00000061676 MIM:604891; AllianceGenome:HGNC:7666 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 HEM2; NAP1; NAP125; p125Nap1 Summary Contributes to small GTPase binding activity. Involved in Rac protein signal transduction; positive regulation of Arp2/3 complex-mediated actin nucleation; and positive regulation of lamellipodium assembly. Located in extracellular exosome and focal adhesion. Part of SCAR complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 62.7), brain (RPKM 61.6) and 24 other tissues See more Orthologs mouse all
NCKAP1L, Official Symbol NCKAP1Lprovided by HGNC Official Full Name NCK associated protein 1 likeprovided by HGNC Primary source HGNC:HGNC:4862 See related Ensembl:ENSG00000123338 MIM:141180; AllianceGenome:HGNC:4862 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 HEM1; IMD72 Summary This gene encodes a member of the HEM family of tissue-specific transmembrane proteins which are highly conserved from invertebrates through mammals. This gene is only expressed in hematopoietic cells. The encoded protein is a part of the Scar/WAVE complex which plays an important role in regulating cell shape in both metazoans and plants. Alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, May 2010] Expression Broad expression in lymph node (RPKM 38.4), appendix (RPKM 34.7) and 18 other tissues See more Orthologs mouse all
NCKAP1P1, Official Symbol NCKAP1P1provided by HGNC Official Full Name NCKAP1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:55028 See related Ensembl:ENSG00000237752 AllianceGenome:HGNC:55028 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NCKAP5, Official Symbol NCKAP5provided by HGNC Official Full Name NCK associated protein 5provided by HGNC Primary source HGNC:HGNC:29847 See related Ensembl:ENSG00000176771 MIM:608789; AllianceGenome:HGNC:29847 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 NAP5; ERIH1; ERIH2 Summary Predicted to be involved in microtubule bundle formation and microtubule depolymerization. Predicted to be active in microtubule plus-end. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in lung (RPKM 2.7), kidney (RPKM 0.7) and 20 other tissues See more Orthologs mouse all
NCKAP5-AS1, Official Symbol NCKAP5-AS1provided by HGNC Official Full Name NCKAP5 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41246 See related Ensembl:ENSG00000233729 AllianceGenome:HGNC:41246 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 2.6) See more
NCKAP5-AS2, Official Symbol NCKAP5-AS2provided by HGNC Official Full Name NCKAP5 antisense RNA 2provided by HGNC Primary source HGNC:HGNC:54065 See related Ensembl:ENSG00000226953 AllianceGenome:HGNC:54065 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
NCKAP5-IT1, Official Symbol NCKAP5-IT1provided by HGNC Official Full Name NCKAP5 intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41497 See related AllianceGenome:HGNC:41497 Gene type ncRNA Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release
NCKAP5L, Official Symbol NCKAP5Lprovided by HGNC Official Full Name NCK associated protein 5 likeprovided by HGNC Primary source HGNC:HGNC:29321 See related Ensembl:ENSG00000167566 MIM:615104; AllianceGenome:HGNC:29321 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 Cep169; FP1193; KIAA1602 Summary Involved in microtubule bundle formation and microtubule depolymerization. Located in centrosome and microtubule plus-end. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in placenta (RPKM 5.5), testis (RPKM 5.4) and 25 other tissues See more Orthologs mouse all
NCKIPSD, Official Symbol NCKIPSDprovided by HGNC Official Full Name NCK interacting protein with SH3 domainprovided by HGNC Primary source HGNC:HGNC:15486 See related Ensembl:ENSG00000213672 MIM:606671; AllianceGenome:HGNC:15486 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 DIP; DIP1; ORF1; WISH; VIP54; AF3P21; SPIN90; WASLBP Summary The protein encoded by this gene contains a nuclear localization signal. It plays a role in signal transduction, and may function in the maintenance of sarcomeres and in the assembly of myofibrils into sarcomeres. It also plays an important role in stress fiber formation This protein is involved in the formation and maintenance of dendritic spines, and modulates synaptic activity in neurons. The gene is involved in therapy-related leukemia by a chromosomal translocation t(3;11)(p21;q23) that involves this gene and the myeloid/lymphoid leukemia gene. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Aug 2019] Expression Ubiquitous expression in ovary (RPKM 9.3), brain (RPKM 7.3) and 25 other tissues See more Orthologs mouse all
NCL, Official Symbol NCLprovided by HGNC Official Full Name nucleolinprovided by HGNC Primary source HGNC:HGNC:7667 See related Ensembl:ENSG00000115053 MIM:164035; AllianceGenome:HGNC:7667 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 C23; Nsr1 Summary Nucleolin (NCL), a eukaryotic nucleolar phosphoprotein, is involved in the synthesis and maturation of ribosomes. It is located mainly in dense fibrillar regions of the nucleolus. Human NCL gene consists of 14 exons with 13 introns and spans approximately 11kb. The intron 11 of the NCL gene encodes a small nucleolar RNA, termed U20. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 147.8), appendix (RPKM 146.7) and 25 other tissues See more Orthologs mouse all
NCLN, Official Symbol NCLNprovided by HGNC Official Full Name nicalinprovided by HGNC Primary source HGNC:HGNC:26923 See related Ensembl:ENSG00000125912 MIM:609156; AllianceGenome:HGNC:26923 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 NET59 Summary Enables ribosome binding activity. Involved in protein stabilization; regulation of protein complex stability; and regulation of protein-containing complex assembly. Located in endoplasmic reticulum membrane. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in colon (RPKM 14.1), duodenum (RPKM 12.9) and 25 other tissues See more Orthologs mouse all
NCMAP, Official Symbol NCMAPprovided by HGNC Official Full Name non-compact myelin associated proteinprovided by HGNC Primary source HGNC:HGNC:29332 See related Ensembl:ENSG00000184454 AllianceGenome:HGNC:29332 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 MP11; C1orf130 Summary Predicted to be a structural constituent of myelin sheath. Predicted to be involved in peripheral nervous system myelin formation and positive regulation of myelination. Predicted to be integral component of plasma membrane. Predicted to be active in Schmidt-Lanterman incisure and paranode region of axon. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in gall bladder (RPKM 3.2), thyroid (RPKM 2.0) and 12 other tissues See more Orthologs mouse all
NCMAP-DT, Official Symbol NCMAP-DTprovided by HGNC Official Full Name NCMAP divergent transcriptprovided by HGNC Primary source HGNC:HGNC:54327 See related AllianceGenome:HGNC:54327 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 prostate (RPKM 12.1), lymph node (RPKM 6.6) and 22 other tissues See more
NCOA1, Official Symbol NCOA1provided by HGNC Official Full Name nuclear receptor coactivator 1provided by HGNC Primary source HGNC:HGNC:7668 See related Ensembl:ENSG00000084676 MIM:602691; AllianceGenome:HGNC:7668 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 SRC1; KAT13A; RIP160; F-SRC-1; bHLHe42; bHLHe74 Summary The protein encoded by this gene acts as a transcriptional coactivator for steroid and nuclear hormone receptors. It is a member of the p160/steroid receptor coactivator (SRC) family and like other family members has histone acetyltransferase activity and contains a nuclear localization signal, as well as bHLH and PAS domains. The product of this gene binds nuclear receptors directly and stimulates the transcriptional activities in a hormone-dependent fashion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 17.5), testis (RPKM 14.8) and 25 other tissues See more Orthologs mouse all
NCOA2, Official Symbol NCOA2provided by HGNC Official Full Name nuclear receptor coactivator 2provided by HGNC Primary source HGNC:HGNC:7669 See related Ensembl:ENSG00000140396 MIM:601993; AllianceGenome:HGNC:7669 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 SRC2; TIF2; GRIP1; KAT13C; NCoA-2; bHLHe75 Summary The protein encoded by this gene functions as a transcriptional coactivator for nuclear hormone receptors, including steroid, thyroid, retinoid, and vitamin D receptors. The encoded protein acts as an intermediary factor for the ligand-dependent activity of these nuclear receptors, which regulate their target genes upon binding of cognate response elements. This gene has been found to be involved in translocations that result in fusions with other genes in various cancers, including the lysine acetyltransferase 6A (KAT6A) gene in acute myeloid leukemia, the ETS variant 6 (ETV6) gene in acute lymphoblastic leukemia, and the hes related family bHLH transcription factor with YRPW motif 1 (HEY1) gene in mesenchymal chondrosarcoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] Annotation information Note: GRIP1 (Gene ID: 23426) and NCOA2 (Gene ID: 10499) share the GRIP1 symbol/alias in common. GRIP1 is a widely used alternative name for nuclear receptor coactivator 2 (NCOA2), which can be confused with the official symbol for glutamate receptor-interacting protein 1 (GRIP1). [06 Jul 2018] Expression Ubiquitous expression in testis (RPKM 5.6), esophagus (RPKM 4.0) and 25 other tissues See more Orthologs mouse all
NCOA3, Official Symbol NCOA3provided by HGNC Official Full Name nuclear receptor coactivator 3provided by HGNC Primary source HGNC:HGNC:7670 See related Ensembl:ENSG00000124151 MIM:601937; AllianceGenome:HGNC:7670 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 ACTR; AIB1; RAC3; SRC3; pCIP; AIB-1; CTG26; SRC-3; CAGH16; KAT13B; TNRC14; TNRC16; TRAM-1; bHLHe42 Summary The protein encoded by this gene is a nuclear receptor coactivator that interacts with nuclear hormone receptors to enhance their transcriptional activator functions. The encoded protein has histone acetyltransferase activity and recruits p300/CBP-associated factor and CREB binding protein as part of a multisubunit coactivation complex. This protein is initially found in the cytoplasm but is translocated into the nucleus upon phosphorylation. Several transcript variants encoding different isoforms have been found for this gene. In addition, a polymorphic repeat region is found in the C-terminus of the encoded protein. [provided by RefSeq, Mar 2010] Annotation information Note: RAC3 (Gene ID: 5881) and NCOA3 (Gene ID: 8202) share the RAC3 symbol/alias in common. RAC3 is a widely used alternative name for nuclear receptor coactivator 3 (NCOA3), which can be confused with the official symbol for ras-related C3 botulinum toxin substrate 3 (RAC3). [06 Jul 2018] Expression Ubiquitous expression in lymph node (RPKM 20.8), placenta (RPKM 19.0) and 25 other tissues See more Orthologs mouse all
NCOA4, Official Symbol NCOA4provided by HGNC Official Full Name nuclear receptor coactivator 4provided by HGNC Primary source HGNC:HGNC:7671 See related Ensembl:ENSG00000266412 MIM:601984; AllianceGenome:HGNC:7671 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 RFG; ELE1; PTC3; ARA70 Summary This gene encodes an androgen receptor coactivator. The encoded protein interacts with the androgen receptor in a ligand-dependent manner to enhance its transcriptional activity. Chromosomal translocations between this gene and the ret tyrosine kinase gene, also located on chromosome 10, have been associated with papillary thyroid carcinoma. Alternatively spliced transcript variants have been described. Pseudogenes are present on chromosomes 4, 5, 10, and 14. [provided by RefSeq, Feb 2009] Expression Ubiquitous expression in duodenum (RPKM 113.8), liver (RPKM 75.2) and 25 other tissues See more Orthologs mouse all