psui3905/ncbi_genes_summary huggingface dataset:
NCOA4P4, Official Symbol NCOA4P4provided by HGNC Official Full Name nuclear receptor coactivator 4 pseudogene 4provided by HGNC Primary source HGNC:HGNC:52405 See related AllianceGenome:HGNC:52405 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NCOA5, Official Symbol NCOA5provided by HGNC Official Full Name nuclear receptor coactivator 5provided by HGNC Primary source HGNC:HGNC:15909 See related Ensembl:ENSG00000124160 MIM:616825; AllianceGenome:HGNC:15909 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 CIA; bA465L10.6 Summary This gene encodes a coregulator for the alpha and beta estrogen receptors and the orphan nuclear receptor NR1D2. The protein localizes to the nucleus, and is thought to have both coactivator and corepressor functions. Its interaction with nuclear receptors is independent of the AF2 domain on the receptors, which is known to regulate interaction with other coreceptors. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2017] Expression Ubiquitous expression in testis (RPKM 19.7), ovary (RPKM 15.7) and 25 other tissues See more Orthologs mouse all
NCOA5LP, Official Symbol NCOA5LPprovided by HGNC Official Full Name nuclear receptor coactivator 5 like, pseudogeneprovided by HGNC Primary source HGNC:HGNC:55095 See related Ensembl:ENSG00000283365 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NCOA6, Official Symbol NCOA6provided by HGNC Official Full Name nuclear receptor coactivator 6provided by HGNC Primary source HGNC:HGNC:15936 See related Ensembl:ENSG00000198646 MIM:605299; AllianceGenome:HGNC:15936 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 NRC; AIB3; ASC2; PRIP; TRBP; RAP250 Summary The protein encoded by this gene is a transcriptional coactivator that can interact with nuclear hormone receptors to enhance their transcriptional activator functions. This protein has been shown to be involved in the hormone-dependent coactivation of several receptors, including prostanoid, retinoid, vitamin D3, thyroid hormone, and steroid receptors. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011] Expression Ubiquitous expression in testis (RPKM 8.8), thyroid (RPKM 7.4) and 25 other tissues See more Orthologs mouse all
NCOA7, Official Symbol NCOA7provided by HGNC Official Full Name nuclear receptor coactivator 7provided by HGNC Primary source HGNC:HGNC:21081 See related Ensembl:ENSG00000111912 MIM:609752; AllianceGenome:HGNC:21081 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 ESNA1; TLDC4; ERAP140; NCOA7-AS; Nbla00052; Nbla10993; dJ187J11.3 Summary Enables nuclear receptor binding activity and nuclear receptor coactivator activity. Involved in positive regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in urinary bladder (RPKM 17.8), adrenal (RPKM 16.0) and 25 other tissues See more Orthologs mouse all
NCOA7-AS1, Official Symbol NCOA7-AS1provided by HGNC Official Full Name NCOA7 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40954 See related Ensembl:ENSG00000232131 AllianceGenome:HGNC:40954 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 stomach (RPKM 1.2), liver (RPKM 0.6) and 4 other tissues See more
NCOR1, Official Symbol NCOR1provided by HGNC Official Full Name nuclear receptor corepressor 1provided by HGNC Primary source HGNC:HGNC:7672 See related Ensembl:ENSG00000141027 MIM:600849; AllianceGenome:HGNC:7672 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 N-CoR; TRAC1; N-CoR1; hN-CoR; PPP1R109 Summary This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 17 and 20.[provided by RefSeq, Jun 2010] Expression Ubiquitous expression in thyroid (RPKM 10.9), colon (RPKM 10.7) and 25 other tissues See more Orthologs mouse all
NCOR2, Official Symbol NCOR2provided by HGNC Official Full Name nuclear receptor corepressor 2provided by HGNC Primary source HGNC:HGNC:7673 See related Ensembl:ENSG00000196498 MIM:600848; AllianceGenome:HGNC:7673 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 SMRT; TRAC; CTG26; SMRTE; TRAC1; N-CoR2; TNRC14; TRAC-1; SMAP270; SMRTE-tau Summary This gene encodes a nuclear receptor co-repressor that mediates transcriptional silencing of certain target genes. The encoded protein is a member of a family of thyroid hormone- and retinoic acid receptor-associated co-repressors. This protein acts as part of a multisubunit complex which includes histone deacetylases to modify chromatin structure that prevents basal transcriptional activity of target genes. Aberrant expression of this gene is associated with certain cancers. Alternate splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Apr 2011] Expression Ubiquitous expression in fat (RPKM 14.9), lung (RPKM 14.3) and 25 other tissues See more Orthologs mouse all
NCR1, Official Symbol NCR1provided by HGNC Official Full Name natural cytotoxicity triggering receptor 1provided by HGNC Primary source HGNC:HGNC:6731 See related Ensembl:ENSG00000189430 MIM:604530; AllianceGenome:HGNC:6731 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 LY94; CD335; NKP46; NK-p46 Summary Predicted to be involved in cellular defense response; regulation of natural killer cell mediated cytotoxicity; and signal transduction. Predicted to act upstream of or within defense response to virus and detection of virus. Predicted to be located in cell surface. Predicted to be part of SWI/SNF complex. Predicted to be active in plasma membrane. Biomarker of acquired immunodeficiency syndrome; anogenital venereal wart; hepatitis C; and lymphoproliferative syndrome. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in spleen (RPKM 1.6), bone marrow (RPKM 0.4) and 12 other tissues See more Orthologs mouse all
NCR2, Official Symbol NCR2provided by HGNC Official Full Name natural cytotoxicity triggering receptor 2provided by HGNC Primary source HGNC:HGNC:6732 See related Ensembl:ENSG00000096264 MIM:604531; AllianceGenome:HGNC:6732 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 LY95; CD336; NKP44; NK-p44; dJ149M18.1 Summary Predicted to enable signaling receptor activity. Predicted to be involved in cellular defense response and signal transduction. Predicted to be located in plasma membrane. Predicted to be integral component of plasma membrane. Predicted to be active in cell surface. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs all
NCR3, Official Symbol NCR3provided by HGNC Official Full Name natural cytotoxicity triggering receptor 3provided by HGNC Primary source HGNC:HGNC:19077 See related Ensembl:ENSG00000204475 MIM:611550; AllianceGenome:HGNC:19077 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 1C7; MALS; CD337; LY117; NKp30 Summary The protein encoded by this gene is a natural cytotoxicity receptor (NCR) that may aid NK cells in the lysis of tumor cells. The encoded protein interacts with CD3-zeta (CD247), a T-cell receptor. A single nucleotide polymorphism in the 5' untranslated region of this gene has been associated with mild malaria suceptibility. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010] Expression Broad expression in lymph node (RPKM 5.8), spleen (RPKM 4.7) and 18 other tissues See more Orthologs all
NCR3LG1, Official Symbol NCR3LG1provided by HGNC Official Full Name natural killer cell cytotoxicity receptor 3 ligand 1provided by HGNC Primary source HGNC:HGNC:42400 See related Ensembl:ENSG00000188211 MIM:613714; AllianceGenome:HGNC:42400 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 B7H6; B7-H6; DKFZp686O24166 Summary B7H6 belongs to the B7 family (see MIM 605402) and is selectively expressed on tumor cells. Interaction of B7H6 with NKp30 (NCR3; MIM 611550) results in natural killer (NK) cell activation and cytotoxicity (Brandt et al., 2009 [PubMed 19528259]).[supplied by OMIM, Jan 2011] Expression Broad expression in colon (RPKM 2.1), duodenum (RPKM 1.9) and 21 other tissues See more Orthologs all
NCRNA00250, Gene symbol NCRNA00250 Gene description non-protein coding RNA 250 See related Ensembl:ENSG00000253433 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 C8orf24 Expression Restricted expression toward testis (RPKM 1.7) See more
NCS1, Official Symbol NCS1provided by HGNC Official Full Name neuronal calcium sensor 1provided by HGNC Primary source HGNC:HGNC:3953 See related Ensembl:ENSG00000107130 MIM:603315; AllianceGenome:HGNC:3953 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 FLUP; FREQ Summary This gene is a member of the neuronal calcium sensor gene family, which encode calcium-binding proteins expressed predominantly in neurons. The protein encoded by this gene regulates G protein-coupled receptor phosphorylation in a calcium-dependent manner and can substitute for calmodulin. The protein is associated with secretory granules and modulates synaptic transmission and synaptic plasticity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 60.4), esophagus (RPKM 14.4) and 11 other tissues See more Orthologs mouse all
NCSTN, Official Symbol NCSTNprovided by HGNC Official Full Name nicastrinprovided by HGNC Primary source HGNC:HGNC:17091 See related Ensembl:ENSG00000162736 MIM:605254; AllianceGenome:HGNC:17091 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 ATAG1874 Summary This gene encodes a type I transmembrane glycoprotein that is an integral component of the multimeric gamma-secretase complex. The encoded protein cleaves integral membrane proteins, including Notch receptors and beta-amyloid precursor protein, and may be a stabilizing cofactor required for gamma-secretase complex assembly. The cleavage of beta-amyloid precursor protein yields amyloid beta peptide, the main component of the neuritic plaque and the hallmark lesion in the brains of patients with Alzheimer's disease; however, the nature of the encoded protein's role in Alzheimer's disease is not known for certain. Mutations in this gene are associated with familial acne inversa. A pseudogene of this gene is present on chromosome 21. Alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Feb 2014] Expression Ubiquitous expression in placenta (RPKM 38.1), duodenum (RPKM 30.4) and 25 other tissues See more Orthologs mouse all
NCSTNP1, Official Symbol NCSTNP1provided by HGNC Official Full Name nicastrin pseudogene 1provided by HGNC Primary source HGNC:HGNC:39606 See related Ensembl:ENSG00000219592 AllianceGenome:HGNC:39606 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDC1, Official Symbol NDC1provided by HGNC Official Full Name NDC1 transmembrane nucleoporinprovided by HGNC Primary source HGNC:HGNC:25525 See related Ensembl:ENSG00000058804 MIM:610115; AllianceGenome:HGNC:25525 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 NET3; TMEM48 Summary A structural constituent of nuclear pore. Involved in nuclear pore complex assembly and nuclear pore localization. Located in actin cytoskeleton; nuclear membrane; and plasma membrane. Part of nuclear pore. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 8.4), colon (RPKM 6.8) and 25 other tissues See more Orthologs mouse all
NDC80, Official Symbol NDC80provided by HGNC Official Full Name NDC80 kinetochore complex componentprovided by HGNC Primary source HGNC:HGNC:16909 See related Ensembl:ENSG00000080986 MIM:607272; AllianceGenome:HGNC:16909 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 HEC; HEC1; TID3; KNTC2; HsHec1; hsNDC80 Summary This gene encodes a component of the NDC80 kinetochore complex. The encoded protein consists of an N-terminal microtubule binding domain and a C-terminal coiled-coiled domain that interacts with other components of the complex. This protein functions to organize and stabilize microtubule-kinetochore interactions and is required for proper chromosome segregation. [provided by RefSeq, Oct 2011] Expression Broad expression in testis (RPKM 8.6), lymph node (RPKM 8.5) and 16 other tissues See more Orthologs mouse all
NDE1, Official Symbol NDE1provided by HGNC Official Full Name nudE neurodevelopment protein 1provided by HGNC Primary source HGNC:HGNC:17619 See related Ensembl:ENSG00000072864 MIM:609449; AllianceGenome:HGNC:17619 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 NDE; LIS4; MHAC; NUDE; NUDE1; HOM-TES-87 Summary This gene encodes a member of the nuclear distribution E (NudE) family of proteins. The encoded protein is localized at the centrosome and interacts with other centrosome components as part of a multiprotein complex that regulates dynein function. This protein plays an essential role in microtubule organization, mitosis and neuronal migration. Mutations in this gene cause lissencephaly 4, a disorder characterized by lissencephaly, severe brain atrophy, microcephaly, and severe cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012] Expression Broad expression in esophagus (RPKM 68.2), prostate (RPKM 53.0) and 18 other tissues See more Orthologs mouse all
NDE1P2, Official Symbol NDE1P2provided by HGNC Official Full Name nudE neurodevelopment protein 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:49116 See related Ensembl:ENSG00000271337 AllianceGenome:HGNC:49116 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDEL1, Official Symbol NDEL1provided by HGNC Official Full Name nudE neurodevelopment protein 1 like 1provided by HGNC Primary source HGNC:HGNC:17620 See related Ensembl:ENSG00000166579 MIM:607538; AllianceGenome:HGNC:17620 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 EOPA; NDE2; NUDEL; MITAP1; NDE1L1 Summary Enables identical protein binding activity. Involved in chromosome segregation; positive regulation of GTPase activity; and regulation of intracellular protein transport. Located in kinetochore. Biomarker of schizophrenia. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 18.6), adrenal (RPKM 13.4) and 25 other tissues See more Orthologs mouse all
NDFIP1, Official Symbol NDFIP1provided by HGNC Official Full Name Nedd4 family interacting protein 1provided by HGNC Primary source HGNC:HGNC:17592 See related Ensembl:ENSG00000131507 MIM:612050; AllianceGenome:HGNC:17592 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 N4WBP5 Summary The protein encoded by this gene belongs to a small group of evolutionarily conserved proteins with three transmembrane domains. It is a potential target for ubiquitination by the Nedd4 family of proteins. This protein is thought to be part of a family of integral Golgi membrane proteins. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 106.7), thyroid (RPKM 68.4) and 25 other tissues See more Orthologs mouse all
NDFIP2, Official Symbol NDFIP2provided by HGNC Official Full Name Nedd4 family interacting protein 2provided by HGNC Primary source HGNC:HGNC:18537 See related Ensembl:ENSG00000102471 MIM:610041; AllianceGenome:HGNC:18537 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 N4WBP5A Summary Enables WW domain binding activity. Involved in negative regulation of gene expression; negative regulation of transport; and positive regulation of protein ubiquitination. Located in several cellular components, including Golgi apparatus; mitochondrion; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 31.7), skin (RPKM 21.9) and 24 other tissues See more Orthologs mouse all
NDFIP2-AS1, Official Symbol NDFIP2-AS1provided by HGNC Official Full Name NDFIP2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40844 See related Ensembl:ENSG00000232132 AllianceGenome:HGNC:40844 Gene type ncRNA RefSeq status PREDICTED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in testis (RPKM 1.3), colon (RPKM 0.2) and 1 other tissue See more
NDN, Official Symbol NDNprovided by HGNC Official Full Name necdin, MAGE family memberprovided by HGNC Primary source HGNC:HGNC:7675 See related Ensembl:ENSG00000182636 MIM:602117; AllianceGenome:HGNC:7675 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 PWCR; HsT16328 Summary This intronless gene is located in the Prader-Willi syndrome deletion region. It is an imprinted gene and is expressed exclusively from the paternal allele. Studies in mouse suggest that the protein encoded by this gene may suppress growth in postmitotic neurons. [provided by RefSeq, Jul 2008] Orthologs mouse all
NDNF, Official Symbol NDNFprovided by HGNC Official Full Name neuron derived neurotrophic factorprovided by HGNC Primary source HGNC:HGNC:26256 See related Ensembl:ENSG00000173376 MIM:616506; AllianceGenome:HGNC:26256 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 HH25; NORD; C4orf31 Summary Predicted to enable heparin binding activity. Involved in several processes, including cellular response to hypoxia; negative regulation of apoptotic process; and nitric oxide mediated signal transduction. Located in extracellular space. Implicated in hypogonadotropic hypogonadism. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in lung (RPKM 64.4), placenta (RPKM 31.0) and 9 other tissues See more Orthologs mouse all
NDOR1, Official Symbol NDOR1provided by HGNC Official Full Name NADPH dependent diflavin oxidoreductase 1provided by HGNC Primary source HGNC:HGNC:29838 See related Ensembl:ENSG00000188566 MIM:606073; AllianceGenome:HGNC:29838 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 NR1; CIAE1; bA350O14.9 Summary This gene encodes an NADPH-dependent diflavin reductase that contains both flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) binding domains. The encoded protein catalyzes the transfer of electrons from NADPH through FAD and FMN cofactors to potential redox partners. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012] Expression Ubiquitous expression in testis (RPKM 6.1), bone marrow (RPKM 5.1) and 25 other tissues See more Orthologs mouse all
NDP, Official Symbol NDPprovided by HGNC Official Full Name norrin cystine knot growth factor NDPprovided by HGNC Primary source HGNC:HGNC:7678 See related Ensembl:ENSG00000124479 MIM:300658; AllianceGenome:HGNC:7678 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 ND; EVR2; FEVR Summary This gene encodes a secreted protein with a cystein-knot motif that activates the Wnt/beta-catenin pathway. The protein forms disulfide-linked oligomers in the extracellular matrix. Mutations in this gene result in Norrie disease and X-linked exudative vitreoretinopathy. [provided by RefSeq, Feb 2009] Expression Biased expression in ovary (RPKM 17.5), endometrium (RPKM 9.6) and 3 other tissues See more Orthologs mouse all
NDP-AS1, Official Symbol NDP-AS1provided by HGNC Official Full Name NDP antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40395 See related Ensembl:ENSG00000236276 AllianceGenome:HGNC:40395 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDRG1, Official Symbol NDRG1provided by HGNC Official Full Name N-myc downstream regulated 1provided by HGNC Primary source HGNC:HGNC:7679 See related Ensembl:ENSG00000104419 MIM:605262; AllianceGenome:HGNC:7679 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 GC4; RTP; DRG1; NDR1; NMSL; TDD5; CAP43; CMT4D; DRG-1; HMSNL; RIT42; TARG1; PROXY1 Summary This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein involved in stress responses, hormone responses, cell growth, and differentiation. The encoded protein is necessary for p53-mediated caspase activation and apoptosis. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4D, and expression of this gene may be a prognostic indicator for several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] Expression Ubiquitous expression in prostate (RPKM 143.2), kidney (RPKM 118.0) and 24 other tissues See more Orthologs mouse all
NDRG2, Official Symbol NDRG2provided by HGNC Official Full Name NDRG family member 2provided by HGNC Primary source HGNC:HGNC:14460 See related Ensembl:ENSG00000165795 MIM:605272; AllianceGenome:HGNC:14460 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 SYLD Summary This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein that may play a role in neurite outgrowth. This gene may be involved in glioblastoma carcinogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2017] Expression Broad expression in salivary gland (RPKM 217.5), brain (RPKM 177.5) and 19 other tissues See more Orthologs mouse all
NDRG3, Official Symbol NDRG3provided by HGNC Official Full Name NDRG family member 3provided by HGNC Primary source HGNC:HGNC:14462 See related Ensembl:ENSG00000101079 MIM:605273; AllianceGenome:HGNC:14462 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to be involved in signal transduction. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 38.0), prostate (RPKM 20.1) and 23 other tissues See more Orthologs mouse all
NDRG4, Official Symbol NDRG4provided by HGNC Official Full Name NDRG family member 4provided by HGNC Primary source HGNC:HGNC:14466 See related Ensembl:ENSG00000103034 MIM:614463; AllianceGenome:HGNC:14466 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 BDM1; SMAP8; SMAP-8 Summary This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein that is required for cell cycle progression and survival in primary astrocytes and may be involved in the regulation of mitogenic signalling in vascular smooth muscles cells. Alternative splicing results in multiple transcripts encoding different isoforms.[provided by RefSeq, Jun 2011] Expression Biased expression in brain (RPKM 109.2), heart (RPKM 62.3) and 4 other tissues See more Orthologs mouse all
NDST1, Official Symbol NDST1provided by HGNC Official Full Name N-deacetylase and N-sulfotransferase 1provided by HGNC Primary source HGNC:HGNC:7680 See related Ensembl:ENSG00000070614 MIM:600853; AllianceGenome:HGNC:7680 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 HSST; NST1; MRT46 Summary This gene encodes a member of the heparan sulfate/heparin GlcNAc N-deacetylase/ N-sulfotransferase family. The encoded enzyme is a type II transmembrane protein that resides in the Golgi apparatus. The encoded protein catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate to nitrogen of glucosamine in heparan sulfate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] Expression Ubiquitous expression in spleen (RPKM 12.3), lung (RPKM 12.2) and 25 other tissues See more Orthologs mouse all
NDST1-AS1, Official Symbol NDST1-AS1provided by HGNC Official Full Name NDST1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:52899 See related Ensembl:ENSG00000254333 AllianceGenome:HGNC:52899 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 fat (RPKM 2.8), kidney (RPKM 1.6) and 10 other tissues See more
NDST2, Official Symbol NDST2provided by HGNC Official Full Name N-deacetylase and N-sulfotransferase 2provided by HGNC Primary source HGNC:HGNC:7681 See related Ensembl:ENSG00000166507 MIM:603268; AllianceGenome:HGNC:7681 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 NST2; HSST2; N-HSST 2 Summary This gene encodes a member of the N-deacetylase/N-sulfotransferase subfamily of the sulfotransferase 1 proteins. The encoded enzyme has dual functions in processing glucosamine and heparin polymers, including N-deacetylation and N-sulfation. The encoded protein may be localized to the Golgi. [provided by RefSeq, Feb 2009] Expression Ubiquitous expression in spleen (RPKM 13.3), bone marrow (RPKM 9.9) and 25 other tissues See more Orthologs mouse all
NDST3, Official Symbol NDST3provided by HGNC Official Full Name N-deacetylase and N-sulfotransferase 3provided by HGNC Primary source HGNC:HGNC:7682 See related Ensembl:ENSG00000164100 MIM:603950; AllianceGenome:HGNC:7682 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 HSST3 Summary This gene encodes a member of the heparan sulfate/heparin GlcNAc N-deacetylase/ N-sulfotransferase family. The encoded enzyme is a type II transmembrane protein that resides in the Golgi apparatus. This monomeric bifunctional enzyme catalyzes the N-deacetylation and N-sulfation of N-acetylglucosamine residues in heparan sulfate and heparin, which are the initial chemical modifications required for the biosynthesis of the functional oligosaccharide sequences that define the specific ligand binding activities of heparan sulfate and heparin. [provided by RefSeq, Nov 2008] Expression Low expression observed in reference dataset See more Orthologs all
NDST4, Official Symbol NDST4provided by HGNC Official Full Name N-deacetylase and N-sulfotransferase 4provided by HGNC Primary source HGNC:HGNC:20779 See related Ensembl:ENSG00000138653 MIM:615039; AllianceGenome:HGNC:20779 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as N-HSST; NDST-4; NHSST4; N-HSST 4 Summary Predicted to enable [heparan sulfate]-glucosamine N-sulfotransferase activity and deacetylase activity. Predicted to be involved in heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process. Predicted to be located in Golgi membrane. Predicted to be integral component of membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
NDUFA1, Official Symbol NDUFA1provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit A1provided by HGNC Primary source HGNC:HGNC:7683 See related Ensembl:ENSG00000125356 MIM:300078; AllianceGenome:HGNC:7683 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 MWFE; ZNF183; CI-MWFE; MC1DN12 Summary The human NDUFA1 gene codes for an essential component of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone. It has been noted that the N-terminal hydrophobic domain has the potential to be folded into an alpha-helix spanning the inner mitochondrial membrane with a C-terminal hydrophilic domain interacting with globular subunits of complex I. The highly conserved two-domain structure suggests that this feature is critical for the protein function and might act as an anchor for the NADH:ubiquinone oxidoreductase complex at the inner mitochondrial membrane. However, the NDUFA1 peptide is one of about 31 components of the "hydrophobic protein" (HP) fraction of complex I which is involved in proton translocation. Thus the NDUFA1 peptide may also participate in that function. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 152.0), colon (RPKM 151.4) and 25 other tissues See more Orthologs mouse all
NDUFA10, Official Symbol NDUFA10provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit A10provided by HGNC Primary source HGNC:HGNC:7684 See related Ensembl:ENSG00000130414 MIM:603835; AllianceGenome:HGNC:7684 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 CI-42k; CI-42KD; MC1DN22 Summary The protein encoded by this gene is a component of 42 kDa complex I, the first enzyme complex in the electron transport chain of mitochondria. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. A mutation in this gene was found in an individual with Leigh syndrome. [provided by RefSeq, Apr 2016] Expression Ubiquitous expression in heart (RPKM 10.9), kidney (RPKM 7.4) and 25 other tissues See more Orthologs mouse all
NDUFA11, Official Symbol NDUFA11provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit A11provided by HGNC Primary source HGNC:HGNC:20371 See related Ensembl:ENSG00000174886 MIM:612638; AllianceGenome:HGNC:20371 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 B14.7; MC1DN14; CI-B14.7 Summary This gene encodes a subunit of the membrane-bound mitochondrial complex I. Complex I is composed of numerous subunits and functions as the NADH-ubiquinol reductase of the mitochondrial electron transport chain. Mutations in this gene are associated with severe mitochondrial complex I deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010] Expression Ubiquitous expression in heart (RPKM 20.7), adrenal (RPKM 14.8) and 25 other tissues See more Orthologs mouse all
NDUFA12, Official Symbol NDUFA12provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit A12provided by HGNC Primary source HGNC:HGNC:23987 See related Ensembl:ENSG00000184752 MIM:614530; AllianceGenome:HGNC:23987 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 B17.2; DAP13; MC1DN23 Summary This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012] Expression Ubiquitous expression in heart (RPKM 72.7), colon (RPKM 50.9) and 25 other tissues See more Orthologs mouse all
NDUFA12P1, Official Symbol NDUFA12P1provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit A12 pseudogene 1provided by HGNC Primary source HGNC:HGNC:39419 See related Ensembl:ENSG00000225999 AllianceGenome:HGNC:39419 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFA13, Official Symbol NDUFA13provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit A13provided by HGNC Primary source HGNC:HGNC:17194 See related Ensembl:ENSG00000186010 MIM:609435; AllianceGenome:HGNC:17194 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 B16.6; CDA016; CGI-39; GRIM19; GRIM-19; MC1DN28 Summary This gene encodes a subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain. The protein is required for complex I assembly and electron transfer activity. The protein binds the signal transducers and activators of transcription 3 (STAT3) transcription factor, and can function as a tumor suppressor. The human protein purified from mitochondria migrates at approximately 16 kDa. Transcripts originating from an upstream promoter and capable of expressing a protein with a longer N-terminus have been found, but their biological validity has not been determined. [provided by RefSeq, Oct 2009] Expression Ubiquitous expression in heart (RPKM 200.1), kidney (RPKM 160.9) and 25 other tissues See more Orthologs mouse all
NDUFA2, Official Symbol NDUFA2provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit A2provided by HGNC Primary source HGNC:HGNC:7685 See related Ensembl:ENSG00000131495 MIM:602137; AllianceGenome:HGNC:7685 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 B8; CD14; CIB8; MC1DN13 Summary The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes. Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] Expression Ubiquitous expression in kidney (RPKM 47.3), fat (RPKM 36.0) and 25 other tissues See more Orthologs mouse all
NDUFA3, Official Symbol NDUFA3provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit A3provided by HGNC Primary source HGNC:HGNC:7686 See related Ensembl:ENSG00000170906 MIM:603832; AllianceGenome:HGNC:7686 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 B9; CI-B9 Summary Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of mitochondrial respiratory chain complex I. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 30.6), fat (RPKM 26.2) and 25 other tissues See more Orthologs mouse all
NDUFA3P2, Official Symbol NDUFA3P2provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit A3 pseudogene 2provided by HGNC Primary source HGNC:HGNC:45051 See related Ensembl:ENSG00000254856 AllianceGenome:HGNC:45051 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFA3P3, Official Symbol NDUFA3P3provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit A3 pseudogene 3provided by HGNC Primary source HGNC:HGNC:45052 See related AllianceGenome:HGNC:45052 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFA3P4, Official Symbol NDUFA3P4provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit A3 pseudogene 4provided by HGNC Primary source HGNC:HGNC:45053 See related Ensembl:ENSG00000259262 AllianceGenome:HGNC:45053 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFA3P6, Official Symbol NDUFA3P6provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit A3 pseudogene 6provided by HGNC Primary source HGNC:HGNC:45055 See related Ensembl:ENSG00000262366 AllianceGenome:HGNC:45055 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFA4, Official Symbol NDUFA4provided by HGNC Official Full Name NDUFA4 mitochondrial complex associatedprovided by HGNC Primary source HGNC:HGNC:7687 See related Ensembl:ENSG00000189043 MIM:603833; AllianceGenome:HGNC:7687 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 MLRQ; CI-9k; COXFA4; MISTR1; MRCAF1; CI-MLRQ; MC4DN21 Summary The protein encoded by this gene belongs to the complex I 9kDa subunit family. Mammalian complex I of mitochondrial respiratory chain is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in heart (RPKM 150.5), brain (RPKM 62.0) and 24 other tissues See more Orthologs mouse all
NDUFA4L2, Official Symbol NDUFA4L2provided by HGNC Official Full Name NDUFA4 mitochondrial complex associated like 2provided by HGNC Primary source HGNC:HGNC:29836 See related Ensembl:ENSG00000185633 AllianceGenome:HGNC:29836 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 NUOMS; MISTRH; COXFA4L2 Summary Predicted to be integral component of membrane. Predicted to be part of mitochondrial respiratory chain complex IV. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in skin (RPKM 38.4), esophagus (RPKM 35.8) and 15 other tissues See more Orthologs mouse all
NDUFA5, Official Symbol NDUFA5provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit A5provided by HGNC Primary source HGNC:HGNC:7688 See related Ensembl:ENSG00000128609 MIM:601677; AllianceGenome:HGNC:7688 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 B13; NUFM; UQOR13; CI-13kB; CI-13KD-B Summary This nuclear gene encodes a conserved protein that comprises the B13 subunit of complex I of the mitochondrial respiratory chain. The encoded protein localizes to the inner mitochondrial membrane, where it is thought to aid in the transfer of electrons from NADH to ubiquinone. Alternative splicing results in multiple transcript variants. There are numerous pseudogenes of this gene on chromosomes 1, 3, 6, 8, 9, 11, 12, and 16. [provided by RefSeq, Apr 2014] Expression Ubiquitous expression in thyroid (RPKM 21.8), heart (RPKM 20.7) and 25 other tissues See more Orthologs mouse all
NDUFA5P11, Official Symbol NDUFA5P11provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit A5 pseudogene 11provided by HGNC Primary source HGNC:HGNC:48853 See related AllianceGenome:HGNC:48853 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFA5P12, Official Symbol NDUFA5P12provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit A5 pseudogene 12provided by HGNC Primary source HGNC:HGNC:48854 See related AllianceGenome:HGNC:48854 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFA5P2, Official Symbol NDUFA5P2provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit A5 pseudogene 2provided by HGNC Primary source HGNC:HGNC:48855 See related AllianceGenome:HGNC:48855 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo