psui3905/ncbi_genes_summary huggingface dataset:
ASH2L, Official Symbol ASH2Lprovided by HGNC Official Full Name ASH2 like, histone lysine methyltransferase complex subunitprovided by HGNC Primary source HGNC:HGNC:744 See related Ensembl:ENSG00000129691 MIM:604782; AllianceGenome:HGNC:744 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 ASH2; Bre2; ASH2L1; ASH2L2 Summary Enables beta-catenin binding activity and transcription cis-regulatory region binding activity. Contributes to histone methyltransferase activity (H3-K4 specific). Involved in histone H3-K4 methylation; positive regulation of cell population proliferation; and response to estrogen. Acts upstream of or within cellular response to DNA damage stimulus. Located in nucleus. Part of MLL3/4 complex and Set1C/COMPASS complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 20.9), fat (RPKM 13.3) and 25 other tissues See more Orthologs mouse all
ASH2LP3, Official Symbol ASH2LP3provided by HGNC Official Full Name ASH2L pseudogene 3provided by HGNC Primary source HGNC:HGNC:53060 See related Ensembl:ENSG00000225724 AllianceGenome:HGNC:53060 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ASIC1, Official Symbol ASIC1provided by HGNC Official Full Name acid sensing ion channel subunit 1provided by HGNC Primary source HGNC:HGNC:100 See related Ensembl:ENSG00000110881 MIM:602866; AllianceGenome:HGNC:100 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 ASIC; ACCN2; BNaC2 Summary This gene encodes a member of the acid-sensing ion channel (ASIC) family of proteins, which are part of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. Members of the ASIC family are sensitive to amiloride and function in neurotransmission. The encoded proteins function in learning, pain transduction, touch sensation, and development of memory and fear. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012] Expression Biased expression in brain (RPKM 17.4), prostate (RPKM 1.9) and 3 other tissues See more Orthologs mouse all
ASIC2, Official Symbol ASIC2provided by HGNC Official Full Name acid sensing ion channel subunit 2provided by HGNC Primary source HGNC:HGNC:99 See related Ensembl:ENSG00000108684 MIM:601784; AllianceGenome:HGNC:99 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 ACCN; BNC1; MDEG; ACCN1; BNaC1; ASIC2a; hBNaC1 Summary This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 3 has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Feb 2012] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s). Expression Biased expression in brain (RPKM 2.7), endometrium (RPKM 2.6) and 5 other tissues See more Orthologs mouse all
ASIC3, Official Symbol ASIC3provided by HGNC Official Full Name acid sensing ion channel subunit 3provided by HGNC Primary source HGNC:HGNC:101 See related Ensembl:ENSG00000213199 MIM:611741; AllianceGenome:HGNC:101 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 ACCN3; TNaC1; DRASIC; SLNAC1 Summary This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, two hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene is an acid sensor and may play an important role in the detection of lasting pH changes. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 2 has been observed as proton-gated channels sensitive to gadolinium. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012] Expression Broad expression in testis (RPKM 3.0), brain (RPKM 2.0) and 20 other tissues See more Orthologs mouse all
ASIC4, Official Symbol ASIC4provided by HGNC Official Full Name acid sensing ion channel subunit family member 4provided by HGNC Primary source HGNC:HGNC:21263 See related Ensembl:ENSG00000072182 MIM:606715; AllianceGenome:HGNC:21263 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 ACCN4; BNAC4 Summary This gene belongs to the superfamily of acid-sensing ion channels, which are proton-gated, amiloride-sensitive sodium channels. These channels have been implicated in synaptic transmission, pain perception as well as mechanoperception. This gene is predominantly expressed in the pituitary gland, and was considered a candidate for paroxysmal dystonic choreoathetosis (PDC), a movement disorder, however, no correlation was found between mutations in this gene and PDC. [provided by RefSeq, Feb 2012] Expression Biased expression in brain (RPKM 5.1), adrenal (RPKM 0.8) and 1 other tissue See more Orthologs mouse all
ASIC5, Official Symbol ASIC5provided by HGNC Official Full Name acid sensing ion channel subunit family member 5provided by HGNC Primary source HGNC:HGNC:17537 See related Ensembl:ENSG00000256394 MIM:616693; AllianceGenome:HGNC:17537 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 INAC; ACCN5; HINAC Summary This gene belongs to the amiloride-sensitive Na+ channel and degenerin (NaC/DEG) family, members of which have been identified in many animal species ranging from the nematode to human. The amiloride-sensitive Na(+) channel encoded by this gene is primarily expressed in the small intestine, however, its exact function is not known. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
ASIP, Official Symbol ASIPprovided by HGNC Official Full Name agouti signaling proteinprovided by HGNC Primary source HGNC:HGNC:745 See related Ensembl:ENSG00000101440 MIM:600201; AllianceGenome:HGNC:745 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 ASP; AGSW; AGTI; AGTIL; SHEP9 Summary In mice, the agouti gene encodes a paracrine signaling molecule that causes hair follicle melanocytes to synthesize pheomelanin, a yellow pigment, instead of the black or brown pigment, eumelanin. Pleiotropic effects of constitutive expression of the mouse gene include adult-onset obesity, increased tumor susceptibility, and premature infertility. This gene is highly similar to the mouse gene and encodes a secreted protein that may (1) affect the quality of hair pigmentation, (2) act as a pharmacological antagonist of alpha-melanocyte-stimulating hormone, (3) play a role in neuroendocrine aspects of melanocortin action, and (4) have a functional role in regulating lipid metabolism in adipocytes. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
ASL, Official Symbol ASLprovided by HGNC Official Full Name argininosuccinate lyaseprovided by HGNC Primary source HGNC:HGNC:746 See related Ensembl:ENSG00000126522 MIM:608310; AllianceGenome:HGNC:746 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 ASAL Summary This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Expression Broad expression in liver (RPKM 45.2), kidney (RPKM 25.5) and 24 other tissues See more Orthologs mouse all
ASMT, Official Symbol ASMTprovided by HGNC Official Full Name acetylserotonin O-methyltransferaseprovided by HGNC Primary source HGNC:HGNC:750 See related Ensembl:ENSG00000196433 Ensembl:ENSG00000292336 MIM:300015; MIM:402500; AllianceGenome:HGNC:750 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 ASMTY; HIOMT; HIOMTY Summary This gene belongs to the methyltransferase superfamily, and is located in the pseudoautosomal region (PAR) at the end of the short arms of the X and Y chromosomes. The encoded enzyme catalyzes the final reaction in the synthesis of melatonin, and is abundant in the pineal gland. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Jan 2010] Expression Ubiquitous expression in ovary (RPKM 1.4), bone marrow (RPKM 1.3) and 25 other tissues See more Orthologs mouse all
ASMTL, Official Symbol ASMTLprovided by HGNC Official Full Name acetylserotonin O-methyltransferase likeprovided by HGNC Primary source HGNC:HGNC:751 See related Ensembl:ENSG00000169093 Ensembl:ENSG00000292339 MIM:300162; MIM:400011; AllianceGenome:HGNC:751 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 ASTML; ASMTLX; ASMTLY Summary The protein encoded by this gene has an N-terminus that is similar to the multicopy associated filamentation (maf) protein of Bacillus subtilis and to orfE of Escherichia coli, while the C-terminus is similar to N-acetylserotonin O-methyltransferase. This gene is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] Expression Ubiquitous expression in ovary (RPKM 11.8), prostate (RPKM 10.4) and 25 other tissues See more Orthologs all
ASNS, Official Symbol ASNSprovided by HGNC Official Full Name asparagine synthetase (glutamine-hydrolyzing)provided by HGNC Primary source HGNC:HGNC:753 See related Ensembl:ENSG00000070669 MIM:108370; AllianceGenome:HGNC:753 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 TS11; ASNSD Summary The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010] Expression Ubiquitous expression in brain (RPKM 19.6), testis (RPKM 14.4) and 24 other tissues See more Orthologs mouse all
ASNSD1, Official Symbol ASNSD1provided by HGNC Official Full Name asparagine synthetase domain containing 1provided by HGNC Primary source HGNC:HGNC:24910 See related Ensembl:ENSG00000138381 MIM:619739; AllianceGenome:HGNC:24910 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 NS3TP1; NBLA00058 Summary Predicted to enable asparagine synthase (glutamine-hydrolyzing) activity. Predicted to be involved in asparagine biosynthetic process and glutamine metabolic process. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 15.1), placenta (RPKM 13.4) and 25 other tissues See more Orthologs mouse all
ASNSP3, Official Symbol ASNSP3provided by HGNC Official Full Name ASNS pseudogene 3provided by HGNC Primary source HGNC:HGNC:39399 See related Ensembl:ENSG00000236554 AllianceGenome:HGNC:39399 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ASNSP4, Official Symbol ASNSP4provided by HGNC Official Full Name ASNS pseudogene 4provided by HGNC Primary source HGNC:HGNC:39400 See related Ensembl:ENSG00000251470 AllianceGenome:HGNC:39400 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ASPA, Official Symbol ASPAprovided by HGNC Official Full Name aspartoacylaseprovided by HGNC Primary source HGNC:HGNC:756 See related Ensembl:ENSG00000108381 MIM:608034; AllianceGenome:HGNC:756 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 ASP; ACY2 Summary This gene encodes an enzyme that catalyzes the conversion of N-acetyl_L-aspartic acid (NAA) to aspartate and acetate. NAA is abundant in the brain where hydrolysis by aspartoacylase is thought to help maintain white matter. This protein is an NAA scavenger in other tissues. Mutations in this gene cause Canavan disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in kidney (RPKM 9.3), brain (RPKM 5.6) and 19 other tissues See more Orthologs mouse all
ASPDH, Official Symbol ASPDHprovided by HGNC Official Full Name aspartate dehydrogenase domain containingprovided by HGNC Primary source HGNC:HGNC:33856 See related Ensembl:ENSG00000204653 AllianceGenome:HGNC:33856 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 enable NADP binding activity; aspartate dehydrogenase NAD activity; and aspartate dehydrogenase NADP activity. Predicted to be involved in NAD biosynthetic process. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in liver (RPKM 17.1), kidney (RPKM 16.9) and 2 other tissues See more Orthologs mouse all
ASPG, Official Symbol ASPGprovided by HGNC Official Full Name asparaginaseprovided by HGNC Primary source HGNC:HGNC:20123 See related Ensembl:ENSG00000166183 MIM:618472; AllianceGenome:HGNC:20123 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 GPA/WT; LYSOLP; C14orf76; hASNase1 Summary Predicted to enable acyltransferase activity, transferring groups other than amino-acyl groups; asparaginase activity; and lysophospholipase activity. Predicted to be involved in asparagine metabolic process and phospholipid metabolic process. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in liver (RPKM 7.5), kidney (RPKM 3.8) and 8 other tissues See more Orthologs mouse all
ASPH, Official Symbol ASPHprovided by HGNC Official Full Name aspartate beta-hydroxylaseprovided by HGNC Primary source HGNC:HGNC:757 See related Ensembl:ENSG00000198363 MIM:600582; AllianceGenome:HGNC:757 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 AAH; BAH; HAAH; JCTN; FDLAB; junctin; CASQ2BP1 Summary This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009] Expression Broad expression in fat (RPKM 85.5), adrenal (RPKM 27.8) and 21 other tissues See more Orthologs mouse all
ASPHD1, Official Symbol ASPHD1provided by HGNC Official Full Name aspartate beta-hydroxylase domain containing 1provided by HGNC Primary source HGNC:HGNC:27380 See related Ensembl:ENSG00000174939 AllianceGenome:HGNC:27380 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 enable dioxygenase activity. Predicted to be involved in peptidyl-amino acid modification. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 13.0), stomach (RPKM 3.5) and 7 other tissues See more Orthologs mouse all
ASPHD2, Official Symbol ASPHD2provided by HGNC Official Full Name aspartate beta-hydroxylase domain containing 2provided by HGNC Primary source HGNC:HGNC:30437 See related Ensembl:ENSG00000128203 AllianceGenome:HGNC:30437 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 enable dioxygenase activity and metal ion binding activity. Predicted to be involved in peptidyl-amino acid modification. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 5.9), stomach (RPKM 5.0) and 20 other tissues See more Orthologs mouse all
ASPM, Official Symbol ASPMprovided by HGNC Official Full Name assembly factor for spindle microtubulesprovided by HGNC Primary source HGNC:HGNC:19048 See related Ensembl:ENSG00000066279 MIM:605481; AllianceGenome:HGNC:19048 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 ASP; MCPH5; Calmbp1 Summary This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011] Expression Broad expression in bone marrow (RPKM 4.7), lymph node (RPKM 3.5) and 14 other tissues See more Orthologs mouse all
ASPN, Official Symbol ASPNprovided by HGNC Official Full Name asporinprovided by HGNC Primary source HGNC:HGNC:14872 See related Ensembl:ENSG00000106819 MIM:608135; AllianceGenome:HGNC:14872 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 OS3; PLAP1; PLAP-1; SLRR1C Summary This gene encodes a cartilage extracellular protein that is member of the small leucine-rich proteoglycan family. The encoded protein may regulate chondrogenesis by inhibiting transforming growth factor-beta 1-induced gene expression in cartilage. This protein also binds collagen and calcium and may induce collagen mineralization. Polymorphisms in the aspartic acid repeat region of this gene are associated with a susceptibility to osteoarthritis, and also with intervertebral disc disease. Alternative splicing of this gene results in multiple transcript variants.[provided by RefSeq, Jul 2014] Annotation information Annotation category: suggests misassembly Expression Broad expression in gall bladder (RPKM 43.4), endometrium (RPKM 40.7) and 17 other tissues See more Orthologs mouse all
ASPRV1, Official Symbol ASPRV1provided by HGNC Official Full Name aspartic peptidase retroviral like 1provided by HGNC Primary source HGNC:HGNC:26321 See related Ensembl:ENSG00000244617 MIM:611765; AllianceGenome:HGNC:26321 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 ADLI; MUNO; SASP; Taps; SASPase Summary Filaggrin is a structural protein that is crucial for in the development and maintenance of the skin barrier. This gene encodes a retroviral-like protease involved in profilaggrin-to-filaggrin processing. Expression is found primarily in the epidermis and inner root sheath of hair follicles. [provided by RefSeq, May 2017] Orthologs mouse all
ASPSCR1, Official Symbol ASPSCR1provided by HGNC Official Full Name ASPSCR1 tether for SLC2A4, UBX domain containingprovided by HGNC Primary source HGNC:HGNC:13825 See related Ensembl:ENSG00000169696 MIM:606236; AllianceGenome:HGNC:13825 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 TUG; ASPL; ASPS; RCC17; UBXD9; UBXN9; ASPCR1 Summary The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4). This protein is a tether, which sequesters the GLUT4 in intracellular vesicles in muscle and fat cells in the absence of insulin, and redistributes the GLUT4 to the plasma membrane within minutes of insulin stimulation. Translocation t(X;17)(p11;q25) of this gene with transcription factor TFE3 gene results in a ASPSCR1-TFE3 fusion protein in alveolar soft part sarcoma and in renal cell carcinomas. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2011] Expression Ubiquitous expression in placenta (RPKM 4.3), testis (RPKM 4.3) and 25 other tissues See more Orthologs mouse all
ASRGL1, Official Symbol ASRGL1provided by HGNC Official Full Name asparaginase and isoaspartyl peptidase 1provided by HGNC Primary source HGNC:HGNC:16448 See related Ensembl:ENSG00000162174 MIM:609212; AllianceGenome:HGNC:16448 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 ALP; ALP1; CRASH Summary Enables asparaginase activity and beta-aspartyl-peptidase activity. Involved in asparagine catabolic process via L-aspartate. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 38.7), kidney (RPKM 13.5) and 10 other tissues See more Orthologs mouse all
ASS1, Official Symbol ASS1provided by HGNC Official Full Name argininosuccinate synthase 1provided by HGNC Primary source HGNC:HGNC:758 See related Ensembl:ENSG00000130707 MIM:603470; AllianceGenome:HGNC:758 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 ASS; CTLN1 Summary The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012] Expression Biased expression in kidney (RPKM 573.0), liver (RPKM 443.3) and 9 other tissues See more Orthologs mouse all
ASS1P1, Official Symbol ASS1P1provided by HGNC Official Full Name argininosuccinate synthetase 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:759 See related Ensembl:ENSG00000220517 AllianceGenome:HGNC:759 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 ASSP1
ASS1P10, Official Symbol ASS1P10provided by HGNC Official Full Name argininosuccinate synthetase 1 pseudogene 10provided by HGNC Primary source HGNC:HGNC:760 See related Ensembl:ENSG00000215325 AllianceGenome:HGNC:760 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 ASSP10
ASS1P11, Official Symbol ASS1P11provided by HGNC Official Full Name argininosuccinate synthetase 1 pseudogene 11provided by HGNC Primary source HGNC:HGNC:761 See related Ensembl:ENSG00000225308 AllianceGenome:HGNC:761 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 ASSP11
ASS1P12, Official Symbol ASS1P12provided by HGNC Official Full Name argininosuccinate synthetase 1 pseudogene 12provided by HGNC Primary source HGNC:HGNC:762 See related Ensembl:ENSG00000237437 AllianceGenome:HGNC:762 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 ASSP12
ASS1P13, Official Symbol ASS1P13provided by HGNC Official Full Name argininosuccinate synthetase 1 pseudogene 13provided by HGNC Primary source HGNC:HGNC:763 See related Ensembl:ENSG00000255353 AllianceGenome:HGNC:763 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 ASSP13
ASS1P14, Official Symbol ASS1P14provided by HGNC Official Full Name argininosuccinate synthetase 1 pseudogene 14provided by HGNC Primary source HGNC:HGNC:764 See related Ensembl:ENSG00000257316 AllianceGenome:HGNC:764 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 ASSP14
ASS1P2, Official Symbol ASS1P2provided by HGNC Official Full Name argininosuccinate synthetase 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:765 See related Ensembl:ENSG00000223922 AllianceGenome:HGNC:765 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 ASSP2
ASS1P3, Official Symbol ASS1P3provided by HGNC Official Full Name argininosuccinate synthetase 1 pseudogene 3provided by HGNC Primary source HGNC:HGNC:766 See related Ensembl:ENSG00000233947 AllianceGenome:HGNC:766 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 ASSP3
ASS1P4, Official Symbol ASS1P4provided by HGNC Official Full Name argininosuccinate synthetase 1 pseudogene 4provided by HGNC Primary source HGNC:HGNC:767 See related Ensembl:ENSG00000213487 AllianceGenome:HGNC:767 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 ASSP4
ASS1P5, Official Symbol ASS1P5provided by HGNC Official Full Name argininosuccinate synthetase 1 pseudogene 5provided by HGNC Primary source HGNC:HGNC:768 See related Ensembl:ENSG00000227881 AllianceGenome:HGNC:768 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 ASSP5
ASS1P6, Official Symbol ASS1P6provided by HGNC Official Full Name argininosuccinate synthetase 1 pseudogene 6provided by HGNC Primary source HGNC:HGNC:769 See related Ensembl:ENSG00000215583 AllianceGenome:HGNC:769 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 ASSP6
ASS1P7, Official Symbol ASS1P7provided by HGNC Official Full Name argininosuccinate synthetase 1 pseudogene 7provided by HGNC Primary source HGNC:HGNC:770 See related Ensembl:ENSG00000236893 AllianceGenome:HGNC:770 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 ASSP7 Annotation information Note: The accessions that previous defined ASSP7 (AH002611.1) aligned best to the X chromosome and now are associated with ASSP4. The name ASSP7 is associated with the pseudogene on chromosome 3. [24 Mar 2009]
ASS1P8, Official Symbol ASS1P8provided by HGNC Official Full Name argininosuccinate synthetase 1 pseudogene 8provided by HGNC Primary source HGNC:HGNC:771 See related AllianceGenome:HGNC:771 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 ASSP8
ASS1P9, Official Symbol ASS1P9provided by HGNC Official Full Name argininosuccinate synthetase 1 pseudogene 9provided by HGNC Primary source HGNC:HGNC:772 See related Ensembl:ENSG00000217791 AllianceGenome:HGNC:772 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 ASSP9
ASTE1, Official Symbol ASTE1provided by HGNC Official Full Name asteroid homolog 1provided by HGNC Primary source HGNC:HGNC:25021 See related Ensembl:ENSG00000034533 AllianceGenome:HGNC:25021 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 HT001 Summary Predicted to enable nuclease activity. Predicted to be involved in nucleic acid phosphodiester bond hydrolysis. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 3.6), thyroid (RPKM 3.3) and 25 other tissues See more Orthologs mouse all
ASTL, Official Symbol ASTLprovided by HGNC Official Full Name astacin like metalloendopeptidaseprovided by HGNC Primary source HGNC:HGNC:31704 See related Ensembl:ENSG00000188886 MIM:608860; AllianceGenome:HGNC:31704 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 SAS1B; OOMD11; OZEMA11 Summary Predicted to enable aspartic-type peptidase activity; glutamic-type peptidase activity; and metalloendopeptidase activity. Predicted to be involved in several processes, including negative regulation of binding activity of sperm to zona pellucida; positive regulation of protein processing; and prevention of polyspermy. Predicted to be located in cortical granule and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in bone marrow (RPKM 1.1), skin (RPKM 0.2) and 10 other tissues See more Orthologs mouse all
ASTN1, Official Symbol ASTN1provided by HGNC Official Full Name astrotactin 1provided by HGNC Primary source HGNC:HGNC:773 See related Ensembl:ENSG00000152092 MIM:600904; AllianceGenome:HGNC:773 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 ASTN Summary Astrotactin is a neuronal adhesion molecule required for glial-guided migration of young postmitotic neuroblasts in cortical regions of developing brain, including cerebrum, hippocampus, cerebellum, and olfactory bulb (Fink et al., 1995).[supplied by OMIM, Jun 2009] Expression Biased expression in brain (RPKM 17.5), adrenal (RPKM 5.3) and 1 other tissue See more Orthologs mouse all
ASTN2, Official Symbol ASTN2provided by HGNC Official Full Name astrotactin 2provided by HGNC Primary source HGNC:HGNC:17021 See related Ensembl:ENSG00000148219 MIM:612856; AllianceGenome:HGNC:17021 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 bA67K19.1 Summary This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010] Expression Biased expression in prostate (RPKM 6.8), brain (RPKM 6.4) and 13 other tissues See more Orthologs mouse all
ASTN2-AS1, Official Symbol ASTN2-AS1provided by HGNC Official Full Name ASTN2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51175 See related Ensembl:ENSG00000229105 AllianceGenome:HGNC:51175 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward testis (RPKM 2.0) See more
ASXL1, Official Symbol ASXL1provided by HGNC Official Full Name ASXL transcriptional regulator 1provided by HGNC Primary source HGNC:HGNC:18318 See related Ensembl:ENSG00000171456 MIM:612990; AllianceGenome:HGNC:18318 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 MDS; BOPS Summary This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] Expression Ubiquitous expression in testis (RPKM 13.2), lymph node (RPKM 9.6) and 25 other tissues See more Orthologs mouse all
ASXL2, Official Symbol ASXL2provided by HGNC Official Full Name ASXL transcriptional regulator 2provided by HGNC Primary source HGNC:HGNC:23805 See related Ensembl:ENSG00000143970 MIM:612991; AllianceGenome:HGNC:23805 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 ASXH2; SHAPNS Summary This gene encodes a member of a family of epigenetic regulators that bind various histone-modifying enzymes and are involved in the assembly of transcription factors at specific genomic loci. Naturally occurring mutations in this gene are associated with cancer in several tissue types (breast, bladder, pancreas, ovary, prostate, and blood). This gene plays an important role in neurodevelopment, cardiac function, adipogenesis, and osteoclastogenesis. [provided by RefSeq, Feb 2017] Expression Ubiquitous expression in testis (RPKM 5.8), thyroid (RPKM 4.6) and 25 other tissues See more Orthologs mouse all
ASXL3, Official Symbol ASXL3provided by HGNC Official Full Name ASXL transcriptional regulator 3provided by HGNC Primary source HGNC:HGNC:29357 See related Ensembl:ENSG00000141431 MIM:615115; AllianceGenome:HGNC:29357 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 BRPS; KIAA1713 Summary This gene encodes a protein containing a plant homeodomain (PHD) zinc finger domain that plays a role in the regulation of gene transcription. The encoded protein has been shown to negatively regulate lipogenesis by binding to and inhibiting the transcriptional activity of two nuclear hormone receptors, oxysterols receptor LXR-alpha (LXRalpha) and thyroid hormone receptor beta (TRbeta). The encoded protein may also inhibit histone deubiquitination. Mutations in this gene have been identified in human patients with Bainbridge-Ropers syndrome, which is characterized by feeding difficulties, developmental delay and other features. [provided by RefSeq, May 2017] Expression Biased expression in testis (RPKM 1.6), ovary (RPKM 1.3) and 12 other tissues See more Orthologs mouse all
ASZ1, Official Symbol ASZ1provided by HGNC Official Full Name ankyrin repeat, SAM and basic leucine zipper domain containing 1provided by HGNC Primary source HGNC:HGNC:1350 See related Ensembl:ENSG00000154438 MIM:605797; AllianceGenome:HGNC:1350 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 ALP1; GASZ; Orf3; ANKL1; C7orf7; CT1.19 Summary Predicted to be involved in gamete generation and piRNA metabolic process. Predicted to be located in cytoplasm. Predicted to be active in pi-body. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 8.9) See more Orthologs mouse all
ATAD1, Official Symbol ATAD1provided by HGNC Official Full Name ATPase family AAA domain containing 1provided by HGNC Primary source HGNC:HGNC:25903 See related Ensembl:ENSG00000138138 MIM:614452; AllianceGenome:HGNC:25903 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 Msp1; AFDC1; HKPX4; FNP001; hATAD1; THORASE Summary Predicted to enable ATP binding activity and transmembrane protein dislocase activity. Involved in extraction of mislocalized protein from mitochondrial outer membrane. Located in mitochondrial outer membrane and peroxisomal membrane. Implicated in hyperekplexia 4. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 11.5), heart (RPKM 11.1) and 25 other tissues See more Orthologs mouse all
ATAD2, Official Symbol ATAD2provided by HGNC Official Full Name ATPase family AAA domain containing 2provided by HGNC Primary source HGNC:HGNC:30123 See related Ensembl:ENSG00000156802 MIM:611941; AllianceGenome:HGNC:30123 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 ANCCA; CT137; PRO2000 Summary A large family of ATPases has been described, whose key feature is that they share a conserved region of about 220 amino acids that contains an ATP-binding site. The proteins that belong to this family either contain one or two AAA (ATPases Associated with diverse cellular Activities) domains. AAA family proteins often perform chaperone-like functions that assist in the assembly, operation, or disassembly of protein complexes. The protein encoded by this gene contains two AAA domains, as well as a bromodomain. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 15.3), bone marrow (RPKM 13.1) and 23 other tissues See more Orthologs mouse all
ATAD2B, Official Symbol ATAD2Bprovided by HGNC Official Full Name ATPase family AAA domain containing 2Bprovided by HGNC Primary source HGNC:HGNC:29230 See related Ensembl:ENSG00000119778 MIM:615347; AllianceGenome:HGNC:29230 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The protein encoded by this gene belongs to the AAA ATPase family. This family member includes an N-terminal bromodomain. It has been found to be localized to the nucleus, partly to replication sites, consistent with a chromatin-related function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014] Expression Ubiquitous expression in lymph node (RPKM 1.9), testis (RPKM 1.9) and 25 other tissues See more Orthologs mouse all
ATAD3A, Official Symbol ATAD3Aprovided by HGNC Official Full Name ATPase family AAA domain containing 3Aprovided by HGNC Primary source HGNC:HGNC:25567 See related Ensembl:ENSG00000197785 MIM:612316; AllianceGenome:HGNC:25567 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 HAYOS; PHRINL Summary This gene encodes a ubiquitously expressed mitochondrial membrane protein that contributes to mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism. This gene is a member of the ATPase family AAA-domain containing 3 gene family which, in humans, includes two other paralogs. Naturally occurring mutations in this gene are associated with distinct neurological syndromes including Harel-Yoon syndrome. High-level expression of this gene is associated with poor survival in breast cancer patients. A homozygous knockout of the orthologous gene in mice results in embryonic lethality at day 7.5 due to growth retardation and defective development of the trophoblast lineage. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017] Expression Ubiquitous expression in bone marrow (RPKM 6.3), testis (RPKM 6.2) and 25 other tissues See more Orthologs all
ATAD3B, Official Symbol ATAD3Bprovided by HGNC Official Full Name ATPase family AAA domain containing 3Bprovided by HGNC Primary source HGNC:HGNC:24007 See related Ensembl:ENSG00000160072 MIM:612317; AllianceGenome:HGNC:24007 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 TOB3; AAA-TOB3 Summary The protein encoded by this gene is localized to the mitochondrial inner membrane, where it can bind to a highly-related protein, ATAD3A. ATAD3A appears to interact with matrix nucleoid complexes, and the encoded protein negatively regulates that interaction. This gene is expressed almost exclusively in pluripotent embryonic stem cells and some cancer cells. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015] Expression Ubiquitous expression in bone marrow (RPKM 7.4), testis (RPKM 6.3) and 25 other tissues See more Orthologs all