psui3905/ncbi_genes_summary huggingface dataset:
AHSG, Official Symbol AHSGprovided by HGNC Official Full Name alpha 2-HS glycoproteinprovided by HGNC Primary source HGNC:HGNC:349 See related Ensembl:ENSG00000145192 MIM:138680; AllianceGenome:HGNC:349 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 AHS; A2HS; HSGA; APMR1; FETUA Summary The protein encoded by this gene is a negatively-charged serum glycoprotein that is synthesized by hepatocytes. The encoded protein consists of two polypeptide chains, which are both cleaved from a proprotein encoded from a single mRNA. It is involved in several processes, including endocytosis, brain development, and the formation of bone tissue. Defects in this gene are a cause of susceptibility to leanness. [provided by RefSeq, Aug 2017] Expression Restricted expression toward liver (RPKM 1605.5) See more Orthologs mouse all
AHSP, Official Symbol AHSPprovided by HGNC Official Full Name alpha hemoglobin stabilizing proteinprovided by HGNC Primary source HGNC:HGNC:18075 See related Ensembl:ENSG00000169877 MIM:605821; AllianceGenome:HGNC:18075 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 EDRF; ERAF Summary This gene encodes a molecular chaperone which binds specifically to free alpha-globin and is involved in hemoglobin assembly. The encoded protein binds to monomeric alpha-globin until it has been transferred to beta-globin to form a heterodimer, which in turn binds to another heterodimer to form the stable tetrameric hemoglobin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Expression Restricted expression toward bone marrow (RPKM 331.1) See more Orthologs mouse all
AICDA, Official Symbol AICDAprovided by HGNC Official Full Name activation induced cytidine deaminaseprovided by HGNC Primary source HGNC:HGNC:13203 See related Ensembl:ENSG00000111732 MIM:605257; AllianceGenome:HGNC:13203 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 AID; ARP2; CDA2; HIGM2; HEL-S-284 Summary This gene encodes a RNA-editing deaminase that is a member of the cytidine deaminase family. AICDA is specifically expressed and active in germinal center-like B cells. In the germinal center, AICDA is involved in somatic hypermutation, gene conversion, and class-switch recombination of immunoglobulin genes. An epigenetic role in neoplastic transformation and lymphoma progression has been experimentally ascribed to AICDA using mouse models. Defects in this gene are the cause of autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2). [provided by RefSeq, Jul 2020] Expression Biased expression in lymph node (RPKM 7.1) and appendix (RPKM 1.7) See more Orthologs mouse all
AIDA, Official Symbol AIDAprovided by HGNC Official Full Name axin interactor, dorsalization associatedprovided by HGNC Primary source HGNC:HGNC:25761 See related Ensembl:ENSG00000186063 MIM:612375; AllianceGenome:HGNC:25761 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 C1orf80 Summary Predicted to enable phosphatidylinositol binding activity. Acts upstream of or within negative regulation of JUN kinase activity. Predicted to be located in cytoplasm. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 42.6), testis (RPKM 31.5) and 25 other tissues See more Orthologs mouse all
AIDAP2, Official Symbol AIDAP2provided by HGNC Official Full Name AIDA pseudogene 2provided by HGNC Primary source HGNC:HGNC:54664 See related Ensembl:ENSG00000251429 AllianceGenome:HGNC:54664 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AIDAP3, Official Symbol AIDAP3provided by HGNC Official Full Name AIDA pseudogene 3provided by HGNC Primary source HGNC:HGNC:54665 See related AllianceGenome:HGNC:54665 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AIF1, Official Symbol AIF1provided by HGNC Official Full Name allograft inflammatory factor 1provided by HGNC Primary source HGNC:HGNC:352 See related Ensembl:ENSG00000204472 MIM:601833; AllianceGenome:HGNC:352 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 IBA1; IRT1; AIF-1; IRT-1 Summary This gene encodes a protein that binds actin and calcium. This gene is induced by cytokines and interferon and may promote macrophage activation and growth of vascular smooth muscle cells and T-lymphocytes. Polymorphisms in this gene may be associated with systemic sclerosis. Alternative splicing results in multiple transcript variants, but the full-length and coding nature of some of these variants is not certain. [provided by RefSeq, Jan 2016] Expression Broad expression in spleen (RPKM 100.3), appendix (RPKM 74.7) and 17 other tissues See more Orthologs mouse all
AIF1L, Official Symbol AIF1Lprovided by HGNC Official Full Name allograft inflammatory factor 1 likeprovided by HGNC Primary source HGNC:HGNC:28904 See related Ensembl:ENSG00000126878 AllianceGenome:HGNC:28904 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 IBA2; C9orf58 Summary Enables actin filament binding activity. Predicted to be involved in actin filament bundle assembly and ruffle assembly. Located in actin cytoskeleton and focal adhesion. Colocalizes with actin filament. Biomarker of breast cancer. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in kidney (RPKM 130.1), spleen (RPKM 121.3) and 8 other tissues See more Orthologs mouse all
AIFM1, Official Symbol AIFM1provided by HGNC Official Full Name apoptosis inducing factor mitochondria associated 1provided by HGNC Primary source HGNC:HGNC:8768 See related Ensembl:ENSG00000156709 MIM:300169; AllianceGenome:HGNC:8768 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 AIF; AUNX1; CMT2D; CMTX4; COWCK; DFNX5; NADMR; NAMSD; PDCD8; COXPD6; SEMDHL Summary This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells, and it is found in the mitochondrial intermembrane space in healthy cells. Induction of apoptosis results in the translocation of this protein to the nucleus where it affects chromosome condensation and fragmentation. In addition, this gene product induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Mutations in this gene cause combined oxidative phosphorylation deficiency 6 (COXPD6), a severe mitochondrial encephalomyopathy, as well as Cowchock syndrome, also known as X-linked recessive Charcot-Marie-Tooth disease-4 (CMTX-4), a disorder resulting in neuropathy, and axonal and motor-sensory defects with deafness and cognitive disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, Aug 2015] Expression Broad expression in kidney (RPKM 48.3), heart (RPKM 22.2) and 24 other tissues See more Orthologs mouse all
AIFM1P1, Official Symbol AIFM1P1provided by HGNC Official Full Name AIFM1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:44884 See related Ensembl:ENSG00000225509 AllianceGenome:HGNC:44884 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AIFM2, Official Symbol AIFM2provided by HGNC Official Full Name apoptosis inducing factor mitochondria associated 2provided by HGNC Primary source HGNC:HGNC:21411 See related Ensembl:ENSG00000042286 MIM:605159; AllianceGenome:HGNC:21411 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 AMID; FSP1; PRG3 Summary This gene encodes a flavoprotein oxidoreductase that binds single stranded DNA and is thought to contribute to apoptosis in the presence of bacterial and viral DNA. The expression of this gene is also found to be induced by tumor suppressor protein p53 in colon cancer cells. [provided by RefSeq, Nov 2010] Expression Broad expression in fat (RPKM 26.6), thyroid (RPKM 7.3) and 22 other tissues See more Orthologs mouse all
AIFM3, Official Symbol AIFM3provided by HGNC Official Full Name apoptosis inducing factor mitochondria associated 3provided by HGNC Primary source HGNC:HGNC:26398 See related Ensembl:ENSG00000183773 MIM:617298; AllianceGenome:HGNC:26398 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 AIFL Summary Predicted to enable several functions, including 2 iron, 2 sulfur cluster binding activity; flavin adenine dinucleotide binding activity; and metal ion binding activity. Involved in execution phase of apoptosis. Located in cytosol; endoplasmic reticulum; and mitochondrial inner membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in colon (RPKM 10.4), brain (RPKM 8.4) and 7 other tissues See more Orthologs mouse all
AIG1, Official Symbol AIG1provided by HGNC Official Full Name androgen induced 1provided by HGNC Primary source HGNC:HGNC:21607 See related Ensembl:ENSG00000146416 MIM:608514; AllianceGenome:HGNC:21607 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 AIG-1; dJ95L4.1 Summary Enables hydrolase activity. Involved in long-chain fatty acid catabolic process. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in liver (RPKM 13.8), kidney (RPKM 9.3) and 24 other tissues See more Orthologs mouse all
AIG1P1, Official Symbol AIG1P1provided by HGNC Official Full Name androgen induced 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:43926 See related Ensembl:ENSG00000249089 AllianceGenome:HGNC:43926 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AIM2, Official Symbol AIM2provided by HGNC Official Full Name absent in melanoma 2provided by HGNC Primary source HGNC:HGNC:357 See related Ensembl:ENSG00000163568 MIM:604578; AllianceGenome:HGNC:357 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 PYHIN4 Summary AIM2 is a member of the IFI20X /IFI16 family. It plays a putative role in tumorigenic reversion and may control cell proliferation. Interferon-gamma induces expression of AIM2. [provided by RefSeq, Jul 2008] Expression Biased expression in lymph node (RPKM 9.4), appendix (RPKM 5.0) and 5 other tissues See more Orthologs mouse all
AIMP1, Official Symbol AIMP1provided by HGNC Official Full Name aminoacyl tRNA synthetase complex interacting multifunctional protein 1provided by HGNC Primary source HGNC:HGNC:10648 See related Ensembl:ENSG00000164022 MIM:603605; AllianceGenome:HGNC:10648 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 p43; HLD3; EMAP2; SCYE1; EMAPII Summary The protein encoded by this gene is a cytokine that is specifically induced by apoptosis, and it is involved in the control of angiogenesis, inflammation, and wound healing. The release of this cytokine renders the tumor-associated vasculature sensitive to tumor necrosis factor. The precursor protein is identical to the p43 subunit, which is associated with the multi-tRNA synthetase complex, and it modulates aminoacylation activity of tRNA synthetase in normal cells. This protein is also involved in the stimulation of inflammatory responses after proteolytic cleavage in tumor cells. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2008] Expression Ubiquitous expression in thyroid (RPKM 9.6), prostate (RPKM 7.6) and 25 other tissues See more Orthologs mouse all
AIMP1P1, Official Symbol AIMP1P1provided by HGNC Official Full Name aminoacyl tRNA synthetase complex interacting multifunctional protein 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:16543 See related Ensembl:ENSG00000234187 AllianceGenome:HGNC:16543 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SCYE1P; bA400P21.1
AIMP2, Official Symbol AIMP2provided by HGNC Official Full Name aminoacyl tRNA synthetase complex interacting multifunctional protein 2provided by HGNC Primary source HGNC:HGNC:20609 See related Ensembl:ENSG00000106305 MIM:600859; AllianceGenome:HGNC:20609 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 P38; JTV1; HLD17; JTV-1 Summary The protein encoded by this gene is part of the aminoacyl-tRNA synthetase complex, which contains nine different aminoacyl-tRNA synthetases and three non-enzymatic factors. The encoded protein is one of the non-enzymatic factors and is required for assembly and stability of the complex. [provided by RefSeq, May 2016] Expression Ubiquitous expression in testis (RPKM 18.6), duodenum (RPKM 17.0) and 25 other tissues See more Orthologs mouse all
AIP, Official Symbol AIPprovided by HGNC Official Full Name aryl hydrocarbon receptor interacting proteinprovided by HGNC Primary source HGNC:HGNC:358 See related Ensembl:ENSG00000110711 MIM:605555; AllianceGenome:HGNC:358 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 ARA9; XAP2; PITA1; XAP-2; FKBP16; FKBP37; SMTPHN Summary The protein encoded by this gene is a receptor for aryl hydrocarbons and a ligand-activated transcription factor. The encoded protein is found in the cytoplasm as part of a multiprotein complex, but upon binding of ligand is transported to the nucleus. This protein can regulate the expression of many xenobiotic metabolizing enzymes. Also, the encoded protein can bind specifically to and inhibit the activity of hepatitis B virus. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014] Expression Ubiquitous expression in lymph node (RPKM 29.1), spleen (RPKM 26.1) and 25 other tissues See more Orthologs mouse all
AIPL1, Official Symbol AIPL1provided by HGNC Official Full Name aryl hydrocarbon receptor interacting protein like 1provided by HGNC Primary source HGNC:HGNC:359 See related Ensembl:ENSG00000129221 MIM:604392; AllianceGenome:HGNC:359 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 LCA4; AIPL2 Summary Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset and accounts for at least 5% of all inherited retinal diseases. Affected individuals are diagnosed at birth or in the first few months of life with nystagmus, severely impaired vision or blindness and an abnormal or flat electroretinogram. The photoreceptor/pineal-expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, is located within the LCA4 candidate region. The encoded protein contains three tetratricopeptide motifs, consistent with chaperone or nuclear transport activity. Mutations in this gene may cause approximately 20% of recessive LCA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] Expression Low expression observed in reference dataset See more Orthologs mouse all
AIRE, Official Symbol AIREprovided by HGNC Official Full Name autoimmune regulatorprovided by HGNC Primary source HGNC:HGNC:360 See related Ensembl:ENSG00000160224 MIM:607358; AllianceGenome:HGNC:360 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 APS1; APSI; PGA1; AIRE1; APECED Summary This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012] Expression Low expression observed in reference dataset See more Orthologs mouse all
AIRN, Official Symbol AIRNprovided by HGNC Official Full Name antisense of IGF2R non-protein coding RNAprovided by HGNC Primary source HGNC:HGNC:34515 See related Ensembl:ENSG00000268257 MIM:604893; AllianceGenome:HGNC:34515 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 AIR; IGF2RAS; IGF2R-AS; IGF2R-AS1; NCRNA00088 Summary Both spliced and un-spliced long non-coding RNAs are transcribed from this gene. This gene overlaps on the opposite strand the second intron of the insulin-like growth factor 2 receptor gene; a CpG island associated with the second intron denotes an active promoter that drives the expression of this gene. The related mouse gene is responsible for silencing the insulin-like growth factor 2 receptor gene and flanking genes in the imprinted gene cluster of mice. This gene may be expressed in Wilms tumors. [provided by RefSeq, Feb 2013] Expression Low expression observed in reference dataset See more
AJAP1, Official Symbol AJAP1provided by HGNC Official Full Name adherens junctions associated protein 1provided by HGNC Primary source HGNC:HGNC:30801 See related Ensembl:ENSG00000196581 MIM:610972; AllianceGenome:HGNC:30801 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 MOT8; SHREW1; SHREW-1 Summary Enables beta-catenin binding activity. Involved in negative regulation of cell-matrix adhesion; negative regulation of wound healing; and regulation of polarized epithelial cell differentiation. Located in several cellular components, including adherens junction; basolateral plasma membrane; and cell-cell contact zone. Is spanning component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 4.3), ovary (RPKM 2.3) and 5 other tissues See more Orthologs mouse all
AJM1, Official Symbol AJM1provided by HGNC Official Full Name apical junction component 1 homologprovided by HGNC Primary source HGNC:HGNC:37284 See related Ensembl:ENSG00000232434 AllianceGenome:HGNC:37284 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 ajm-1; C9orf172 Summary Predicted to be involved in cell-cell junction organization. Predicted to be located in adherens junction; apical plasma membrane; and cilium. Predicted to be active in apical junction complex and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
AJUBA, Official Symbol AJUBAprovided by HGNC Official Full Name ajuba LIM proteinprovided by HGNC Primary source HGNC:HGNC:20250 See related Ensembl:ENSG00000129474 MIM:609066; AllianceGenome:HGNC:20250 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 JUB Summary Enables alpha-catenin binding activity and transcription corepressor activity. Involved in several processes, including negative regulation of hippo signaling; positive regulation of gene silencing by miRNA; and regulation of cellular response to hypoxia. Acts upstream of or within gene silencing by miRNA and positive regulation of protein-containing complex assembly. Located in several cellular components, including Golgi apparatus; P-body; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in skin (RPKM 17.2), liver (RPKM 8.4) and 15 other tissues See more Orthologs mouse all
AK1, Official Symbol AK1provided by HGNC Official Full Name adenylate kinase 1provided by HGNC Primary source HGNC:HGNC:361 See related Ensembl:ENSG00000106992 MIM:103000; AllianceGenome:HGNC:361 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 HTL-S-58j Summary This gene encodes an adenylate kinase enzyme involved in energy metabolism and homeostasis of cellular adenine nucleotide ratios in different intracellular compartments. This gene is highly expressed in skeletal muscle, brain and erythrocytes. Certain mutations in this gene resulting in a functionally inadequate enzyme are associated with a rare genetic disorder causing nonspherocytic hemolytic anemia. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene shares readthrough transcripts with the upstream ST6GALNAC6 gene. [provided by RefSeq, Jan 2022] Expression Ubiquitous expression in heart (RPKM 35.4), lung (RPKM 29.7) and 25 other tissues See more Orthologs mouse all
AK2, Official Symbol AK2provided by HGNC Official Full Name adenylate kinase 2provided by HGNC Primary source HGNC:HGNC:362 See related Ensembl:ENSG00000004455 MIM:103020; AllianceGenome:HGNC:362 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 ADK2 Summary Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Mutations in this gene are the cause of reticular dysgenesis. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1 and 2.[provided by RefSeq, Nov 2010] Expression Ubiquitous expression in kidney (RPKM 27.8), small intestine (RPKM 20.9) and 25 other tissues See more Orthologs mouse all
AK3, Official Symbol AK3provided by HGNC Official Full Name adenylate kinase 3provided by HGNC Primary source HGNC:HGNC:17376 See related Ensembl:ENSG00000147853 MIM:609290; AllianceGenome:HGNC:17376 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 AK6; FIX; AK3L1; AKL3L; AKL3L1 Summary The protein encoded by this gene is a GTP:ATP phosphotransferase that is found in the mitochondrial matrix. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2010] Expression Ubiquitous expression in liver (RPKM 32.7), fat (RPKM 26.9) and 25 other tissues See more Orthologs mouse all
AK3P3, Official Symbol AK3P3provided by HGNC Official Full Name AK3 pseudogene 3provided by HGNC Primary source HGNC:HGNC:39062 See related Ensembl:ENSG00000230042 AllianceGenome:HGNC:39062 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AK3P4, Official Symbol AK3P4provided by HGNC Official Full Name AK3 pseudogene 4provided by HGNC Primary source HGNC:HGNC:39063 See related Ensembl:ENSG00000248722 AllianceGenome:HGNC:39063 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AK3P5, Official Symbol AK3P5provided by HGNC Official Full Name AK3 pseudogene 5provided by HGNC Primary source HGNC:HGNC:39064 See related AllianceGenome:HGNC:39064 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AK4, Official Symbol AK4provided by HGNC Official Full Name adenylate kinase 4provided by HGNC Primary source HGNC:HGNC:363 See related Ensembl:ENSG00000162433 MIM:103030; AllianceGenome:HGNC:363 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 AK3; AK 4; AK3L1; AK3L2 Summary This gene encodes a member of the adenylate kinase family of enzymes. The encoded protein is localized to the mitochondrial matrix. Adenylate kinases regulate the adenine and guanine nucleotide compositions within a cell by catalyzing the reversible transfer of phosphate group among these nucleotides. Five isozymes of adenylate kinase have been identified in vertebrates. Expression of these isozymes is tissue-specific and developmentally regulated. A pseudogene for this gene has been located on chromosome 17. Three transcript variants encoding the same protein have been identified for this gene. Sequence alignment suggests that the gene defined by NM_013410, NM_203464, and NM_001005353 is located on chromosome 1. [provided by RefSeq, Jul 2008] Annotation information Note: On Build 36.2, AK3L1 and AK3L2 (GeneID 387851) were annotated at the same location. AK3L2 is defined as a locus on Chr12, which was annotated on Build 36.2 as GeneID 645619 on the reference assembly and 731007 on the Celera assembly. To remove the extra record, GeneID 387851 was merged into GeneID 205, and GeneID 645619 was renamed AK3L2. [13 Feb 2013] Expression Biased expression in kidney (RPKM 79.4), liver (RPKM 24.7) and 11 other tissues See more Orthologs mouse all
AK4P3, Official Symbol AK4P3provided by HGNC Official Full Name adenylate kinase 4 pseudogene 3provided by HGNC Primary source HGNC:HGNC:21596 See related AllianceGenome:HGNC:21596 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AK3L2; AK3L2P
AK4P4, Official Symbol AK4P4provided by HGNC Official Full Name adenylate kinase 4 pseudogene 4provided by HGNC Primary source HGNC:HGNC:39067 See related AllianceGenome:HGNC:39067 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AK4P5, Official Symbol AK4P5provided by HGNC Official Full Name adenylate kinase 4 pseudogene 5provided by HGNC Primary source HGNC:HGNC:39068 See related Ensembl:ENSG00000217377 AllianceGenome:HGNC:39068 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AK5, Official Symbol AK5provided by HGNC Official Full Name adenylate kinase 5provided by HGNC Primary source HGNC:HGNC:365 See related Ensembl:ENSG00000154027 MIM:608009; AllianceGenome:HGNC:365 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 AK6 Summary This gene encodes a member of the adenylate kinase family, which is involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. This member is related to the UMP/CMP kinase of several species. It is located in the cytosol and expressed exclusively in brain. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 40.3) and testis (RPKM 0.8) See more Orthologs mouse all
AK6, Official Symbol AK6provided by HGNC Official Full Name adenylate kinase 6provided by HGNC Primary source HGNC:HGNC:49151 See related Ensembl:ENSG00000085231 MIM:619357; AllianceGenome:HGNC:49151 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 CIP; CINAP; AD-004; hCINAP; CGI-137 Summary This gene encodes a protein that belongs to the adenylate kinase family of enzymes. The protein has a nuclear localization and contains Walker A (P-loop) and Walker B motifs and a metal-coordinating residue. The protein may be involved in regulation of Cajal body formation. In human, AK6 and TAF9 (GeneID: 6880) are two distinct genes that share 5' exons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] Expression Ubiquitous expression in testis (RPKM 18.6), adrenal (RPKM 17.2) and 25 other tissues See more Orthologs mouse all
AK6P1, Official Symbol AK6P1provided by HGNC Official Full Name adenylate kinase 6 pseudogene 1provided by HGNC Primary source HGNC:HGNC:51678 See related Ensembl:ENSG00000256614 AllianceGenome:HGNC:51678 Gene type pseudo RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AK6P2, Official Symbol AK6P2provided by HGNC Official Full Name adenylate kinase 6 pseudogene 2provided by HGNC Primary source HGNC:HGNC:51679 See related Ensembl:ENSG00000257173 AllianceGenome:HGNC:51679 Gene type pseudo RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AK7, Official Symbol AK7provided by HGNC Official Full Name adenylate kinase 7provided by HGNC Primary source HGNC:HGNC:20091 See related Ensembl:ENSG00000140057 MIM:615364; AllianceGenome:HGNC:20091 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 AK 7; FAP75; CFAP75; SPGF27 Summary This gene encodes a member of the adenylate kinase family of enzymes. The encoded enzyme is a phosphotransferase that catalyzes the reversible phosphorylation of adenine nucleotides. This enzyme plays a role in energy homeostasis of the cell. Alternative splicing results in multiple transcript variants. Mutations in the mouse gene are associated with primary ciliary dyskinesia. [provided by RefSeq, Apr 2017] Expression Broad expression in testis (RPKM 4.1), lung (RPKM 2.2) and 15 other tissues See more Orthologs mouse all
AK8, Official Symbol AK8provided by HGNC Official Full Name adenylate kinase 8provided by HGNC Primary source HGNC:HGNC:26526 See related Ensembl:ENSG00000165695 MIM:615365; AllianceGenome:HGNC:26526 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 AK 8; DDX31; C9orf98 Summary Enables AMP binding activity and nucleobase-containing compound kinase activity. Involved in nucleoside diphosphate phosphorylation and nucleoside triphosphate biosynthetic process. Located in 9+2 motile cilium. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 3.3), thyroid (RPKM 0.7) and 8 other tissues See more Orthologs mouse all
AK9, Official Symbol AK9provided by HGNC Official Full Name adenylate kinase 9provided by HGNC Primary source HGNC:HGNC:33814 See related Ensembl:ENSG00000155085 MIM:615358; AllianceGenome:HGNC:33814 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 AK 9; AKD1; AKD2; C6orf199; C6orf224; dJ70A9.1 Summary The protein encoded by this gene catalyzes the interconversion of nucleosides, possessing both nucleoside monophosphate and diphosphate kinase activities. The encoded protein uses these interconversions to maintain nucleoside homeostasis. [provided by RefSeq, Jul 2016] Expression Broad expression in testis (RPKM 4.3), thyroid (RPKM 0.9) and 23 other tissues See more Orthologs mouse all
AKAIN1, Official Symbol AKAIN1provided by HGNC Official Full Name A-kinase anchor inhibitor 1provided by HGNC Primary source HGNC:HGNC:28285 See related Ensembl:ENSG00000231824 MIM:616427; AllianceGenome:HGNC:28285 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 C18orf42 Summary Enables protein kinase A binding activity. Involved in protein localization. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in adrenal (RPKM 1.4), brain (RPKM 0.1) and 1 other tissue See more Orthologs mouse all
AKAP1, Official Symbol AKAP1provided by HGNC Official Full Name A-kinase anchoring protein 1provided by HGNC Primary source HGNC:HGNC:367 See related Ensembl:ENSG00000121057 MIM:602449; AllianceGenome:HGNC:367 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 AKAP; PRKA1; AKAP84; TDRD17; AKAP121; AKAP149; D-AKAP1; PPP1R43; SAKAP84 Summary The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein binds to type I and type II regulatory subunits of PKA and anchors them to the mitochondrion. This protein is speculated to be involved in the cAMP-dependent signal transduction pathway and in directing RNA to a specific cellular compartment. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 41.4), heart (RPKM 27.0) and 24 other tissues See more Orthologs mouse all
AKAP10, Official Symbol AKAP10provided by HGNC Official Full Name A-kinase anchoring protein 10provided by HGNC Primary source HGNC:HGNC:368 See related Ensembl:ENSG00000108599 MIM:604694; AllianceGenome:HGNC:368 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 PRKA10; AKAP-10; D-AKAP2; D-AKAP-2 Summary This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins bind to the regulatory subunits of protein kinase A (PKA) and confine the holoenzyme to discrete locations within the cell. The encoded protein is localized to mitochondria and interacts with both the type I and type II regulatory subunits of PKA. Polymorphisms in this gene may be associated with increased risk of arrhythmias and sudden cardiac death. [provided by RefSeq, May 2012] Expression Ubiquitous expression in thyroid (RPKM 7.7), testis (RPKM 7.4) and 25 other tissues See more Orthologs mouse all
AKAP11, Official Symbol AKAP11provided by HGNC Official Full Name A-kinase anchoring protein 11provided by HGNC Primary source HGNC:HGNC:369 See related Ensembl:ENSG00000023516 MIM:604696; AllianceGenome:HGNC:369 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 PRKA11; AKAP-11; AKAP220; PPP1R44 Summary The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed at high levels throughout spermatogenesis and in mature sperm. It binds the RI and RII subunits of PKA in testis. It may serve a function in cell cycle control of both somatic cells and germ cells in addition to its putative role in spermatogenesis and sperm function. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 22.2), testis (RPKM 15.0) and 24 other tissues See more Orthologs mouse all
AKAP12, Official Symbol AKAP12provided by HGNC Official Full Name A-kinase anchoring protein 12provided by HGNC Primary source HGNC:HGNC:370 See related Ensembl:ENSG00000131016 MIM:604698; AllianceGenome:HGNC:370 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 SSeCKS; AKAP250 Summary The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 48.0), fat (RPKM 27.1) and 20 other tissues See more Orthologs mouse all
AKAP13, Official Symbol AKAP13provided by HGNC Official Full Name A-kinase anchoring protein 13provided by HGNC Primary source HGNC:HGNC:371 See related Ensembl:ENSG00000170776 MIM:604686; AllianceGenome:HGNC:371 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 BRX; LBC; p47; HA-3; Ht31; c-lbc; PRKA13; AKAP-13; AKAP-Lbc; ARHGEF13; PROTO-LB; PROTO-LBC Summary The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012] Expression Ubiquitous expression in gall bladder (RPKM 16.9), lung (RPKM 16.5) and 25 other tissues See more Orthologs mouse all
AKAP14, Official Symbol AKAP14provided by HGNC Official Full Name A-kinase anchoring protein 14provided by HGNC Primary source HGNC:HGNC:24061 See related Ensembl:ENSG00000186471 MIM:300462; AllianceGenome:HGNC:24061 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 AKAP28; PRKA14 Summary The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The protein anchors PKA in ciliary axonemes and, in this way, may play a role in regulating ciliary beat frequency. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Expression Restricted expression toward testis (RPKM 10.2) See more Orthologs mouse all
AKAP17A, Official Symbol AKAP17Aprovided by HGNC Official Full Name A-kinase anchoring protein 17Aprovided by HGNC Primary source HGNC:HGNC:18783 See related Ensembl:ENSG00000197976 Ensembl:ENSG00000292343 MIM:312095; MIM:465000; AllianceGenome:HGNC:18783 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 XE7; 721P; XE7Y; CCDC133; CXYorf3; PRKA17A; SFRS17A; AKAP-17A; DXYS155E Summary This locus encodes a protein kinase A anchoring protein. The encoded protein is part of the spliceosome complex and is involved in the regulation of alternate splicing in some mRNA precursors. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Sep 2010] Expression Ubiquitous expression in spleen (RPKM 26.3), bone marrow (RPKM 23.0) and 25 other tissues See more Orthologs mouse all
AKAP3, Official Symbol AKAP3provided by HGNC Official Full Name A-kinase anchoring protein 3provided by HGNC Primary source HGNC:HGNC:373 See related Ensembl:ENSG00000111254 MIM:604689; AllianceGenome:HGNC:373 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 CT82; SOB1; FSP95; PRKA3; HEL159; SPGF82; AKAP110; AKAP 110 Summary This gene encodes a member of A-kinase anchoring proteins (AKAPs), a family of functionally related proteins that target protein kinase A to discrete locations within the cell. The encoded protein is reported to participate in protein-protein interactions with the R-subunit of the protein kinase A as well as sperm-associated proteins. This protein is expressed in spermatozoa and localized to the acrosomal region of the sperm head as well as the length of the principal piece. It may function as a regulator of motility, capacitation, and the acrosome reaction. [provided by RefSeq, May 2013] Expression Restricted expression toward testis (RPKM 61.9) See more Orthologs mouse all
AKAP4, Official Symbol AKAP4provided by HGNC Official Full Name A-kinase anchoring protein 4provided by HGNC Primary source HGNC:HGNC:374 See related Ensembl:ENSG00000147081 MIM:300185; AllianceGenome:HGNC:374 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 HI; p82; CT99; FSC1; PRKA4; AKAP-4; AKAP82; AKAP 82; hAKAP82 Summary The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is localized to the sperm flagellum and may be involved in the regulation of sperm motility. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Restricted expression toward testis (RPKM 101.7) See more Orthologs mouse all