psui3905/ncbi_genes_summary huggingface dataset:
ACSS2, Official Symbol ACSS2provided by HGNC Official Full Name acyl-CoA synthetase short chain family member 2provided by HGNC Primary source HGNC:HGNC:15814 See related Ensembl:ENSG00000131069 MIM:605832; AllianceGenome:HGNC:15814 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 ACS; ACSA; ACAS2; ACECS; AceCS1; dJ1161H23.1 Summary This gene encodes a cytosolic enzyme that catalyzes the activation of acetate for use in lipid synthesis and energy generation. The protein acts as a monomer and produces acetyl-CoA from acetate in a reaction that requires ATP. Expression of this gene is regulated by sterol regulatory element-binding proteins, transcription factors that activate genes required for the synthesis of cholesterol and unsaturated fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] Expression Broad expression in fat (RPKM 49.2), duodenum (RPKM 47.1) and 24 other tissues See more Orthologs mouse all
ACSS3, Official Symbol ACSS3provided by HGNC Official Full Name acyl-CoA synthetase short chain family member 3provided by HGNC Primary source HGNC:HGNC:24723 See related Ensembl:ENSG00000111058 MIM:614356; AllianceGenome:HGNC:24723 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 Enables propionate-CoA ligase activity. Predicted to be involved in ketone body biosynthetic process. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in fat (RPKM 16.6), liver (RPKM 14.1) and 17 other tissues See more Orthologs mouse all
ACTA1, Official Symbol ACTA1provided by HGNC Official Full Name actin alpha 1, skeletal muscleprovided by HGNC Primary source HGNC:HGNC:129 See related Ensembl:ENSG00000143632 MIM:102610; AllianceGenome:HGNC:129 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 ACTA; ASMA; CFTD; MPFD; NEM1; NEM2; NEM3; SHPM; CFTD1; CFTDM; CMYP2A; CMYP2B; CMYP2C Summary The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause a variety of myopathies, including nemaline myopathy, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects with manifestations such as hypotonia. [provided by RefSeq, Sep 2019] Expression Biased expression in heart (RPKM 1670.9), esophagus (RPKM 297.6) and 1 other tissue See more Orthologs mouse all
ACTA2, Official Symbol ACTA2provided by HGNC Official Full Name actin alpha 2, smooth muscleprovided by HGNC Primary source HGNC:HGNC:130 See related Ensembl:ENSG00000107796 MIM:102620; AllianceGenome:HGNC:130 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 ACTSA Summary This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a smooth muscle actin that is involved in vascular contractility and blood pressure homeostasis. Mutations in this gene cause a variety of vascular diseases, such as thoracic aortic disease, coronary artery disease, stroke, and Moyamoya disease, as well as multisystemic smooth muscle dysfunction syndrome. [provided by RefSeq, Sep 2017] Expression Broad expression in endometrium (RPKM 1285.0), prostate (RPKM 863.5) and 16 other tissues See more Orthologs mouse all
ACTA2-AS1, Official Symbol ACTA2-AS1provided by HGNC Official Full Name ACTA2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:45169 See related Ensembl:ENSG00000180139 AllianceGenome:HGNC:45169 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ZXF1; UC001kfo; uc001kfo.1 Expression Broad expression in endometrium (RPKM 434.7), prostate (RPKM 295.9) and 16 other tissues See more
ACTB, Official Symbol ACTBprovided by HGNC Official Full Name actin betaprovided by HGNC Primary source HGNC:HGNC:132 See related Ensembl:ENSG00000075624 MIM:102630; AllianceGenome:HGNC:132 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 BNS; CSMH; DDS1; THC8; BKRNS; BRWS1; PS1TP5BP1 Summary This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins that are ubiquitously expressed. Mutations in this gene cause Baraitser-Winter syndrome 1, which is characterized by intellectual disability with a distinctive facial appearance in human patients. Numerous pseudogenes of this gene have been identified throughout the human genome. [provided by RefSeq, Aug 2017] Expression Ubiquitous expression in appendix (RPKM 2395.4), lymph node (RPKM 2072.0) and 24 other tissues See more Orthologs mouse all
ACTBL2, Official Symbol ACTBL2provided by HGNC Official Full Name actin beta like 2provided by HGNC Primary source HGNC:HGNC:17780 See related Ensembl:ENSG00000169067 MIM:614835; AllianceGenome:HGNC:17780 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 ACT Summary Predicted to enable protein kinase binding activity. Predicted to be a structural constituent of postsynaptic actin cytoskeleton. Predicted to be involved in axonogenesis and cell motility. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
ACTBP1, Official Symbol ACTBP1provided by HGNC Official Full Name ACTB pseudogene 1provided by HGNC Primary source HGNC:HGNC:134 See related Ensembl:ENSG00000229145 AllianceGenome:HGNC:134 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ACTBP12, Official Symbol ACTBP12provided by HGNC Official Full Name ACTB pseudogene 12provided by HGNC Primary source HGNC:HGNC:150 See related Ensembl:ENSG00000233125 AllianceGenome:HGNC:150 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 ACTGP5
ACTBP14, Official Symbol ACTBP14provided by HGNC Official Full Name ACTB pseudogene 14provided by HGNC Primary source HGNC:HGNC:45086 See related Ensembl:ENSG00000229001 AllianceGenome:HGNC:45086 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ACTBP9, Official Symbol ACTBP9provided by HGNC Official Full Name ACTB pseudogene 9provided by HGNC Primary source HGNC:HGNC:142 See related AllianceGenome:HGNC:142 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ACTC1, Official Symbol ACTC1provided by HGNC Official Full Name actin alpha cardiac muscle 1provided by HGNC Primary source HGNC:HGNC:143 See related Ensembl:ENSG00000159251 MIM:102540; AllianceGenome:HGNC:143 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 ACTC; ASD5; CMD1R; CMH11; LVNC4 Summary Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC). [provided by RefSeq, Jul 2008] Expression Restricted expression toward heart (RPKM 1532.4) See more Orthologs mouse all
ACTE1P, Official Symbol ACTE1Pprovided by HGNC Official Full Name actin epsilon 1, pseudogeneprovided by HGNC Primary source HGNC:HGNC:51491 See related Ensembl:ENSG00000172900 AllianceGenome:HGNC:51491 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
ACTG1, Official Symbol ACTG1provided by HGNC Official Full Name actin gamma 1provided by HGNC Primary source HGNC:HGNC:144 See related Ensembl:ENSG00000184009 MIM:102560; AllianceGenome:HGNC:144 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 ACT; ACTG; DFNA20; DFNA26; HEL-176 Summary Actins are highly conserved proteins that are involved in various types of cell motility and in maintenance of the cytoskeleton. Three main groups of actin isoforms have been identified in vertebrate animals: alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. Actin gamma 1, encoded by this gene, is a cytoplasmic actin found in all cell types. Mutations in this gene are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss and also with Baraitser-Winter syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017] Expression Ubiquitous expression in ovary (RPKM 1227.2), esophagus (RPKM 970.4) and 25 other tissues See more Orthologs mouse all
ACTG1P12, Official Symbol ACTG1P12provided by HGNC Official Full Name actin gamma 1 pseudogene 12provided by HGNC Primary source HGNC:HGNC:44496 See related Ensembl:ENSG00000226642 AllianceGenome:HGNC:44496 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ACTG1P13, Official Symbol ACTG1P13provided by HGNC Official Full Name actin gamma 1 pseudogene 13provided by HGNC Primary source HGNC:HGNC:49058 See related AllianceGenome:HGNC:49058 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ACTG1P14, Official Symbol ACTG1P14provided by HGNC Official Full Name actin gamma 1 pseudogene 14provided by HGNC Primary source HGNC:HGNC:49751 See related Ensembl:ENSG00000230581 AllianceGenome:HGNC:49751 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ACTG1P16, Official Symbol ACTG1P16provided by HGNC Official Full Name actin gamma 1 pseudogene 16provided by HGNC Primary source HGNC:HGNC:51496 See related Ensembl:ENSG00000260298 AllianceGenome:HGNC:51496 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ACTG1P17, Official Symbol ACTG1P17provided by HGNC Official Full Name actin gamma 1 pseudogene 17provided by HGNC Primary source HGNC:HGNC:51497 See related AllianceGenome:HGNC:51497 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
ACTG1P19, Official Symbol ACTG1P19provided by HGNC Official Full Name actin gamma 1 pseudogene 19provided by HGNC Primary source HGNC:HGNC:51499 See related Ensembl:ENSG00000237999 AllianceGenome:HGNC:51499 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ACTG1P2, Official Symbol ACTG1P2provided by HGNC Official Full Name actin gamma 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:147 See related AllianceGenome:HGNC:147 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 ACTL2; ACTGP2
ACTG1P21, Official Symbol ACTG1P21provided by HGNC Official Full Name actin gamma 1 pseudogene 21provided by HGNC Primary source HGNC:HGNC:51501 See related Ensembl:ENSG00000232672 AllianceGenome:HGNC:51501 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ACTG1P23, Official Symbol ACTG1P23provided by HGNC Official Full Name actin gamma 1 pseudogene 23provided by HGNC Primary source HGNC:HGNC:51503 See related Ensembl:ENSG00000230362 AllianceGenome:HGNC:51503 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ACTG1P24, Official Symbol ACTG1P24provided by HGNC Official Full Name actin gamma 1 pseudogene 24provided by HGNC Primary source HGNC:HGNC:49661 See related Ensembl:ENSG00000226359 AllianceGenome:HGNC:49661 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 POTENP
ACTG1P25, Official Symbol ACTG1P25provided by HGNC Official Full Name actin gamma 1 pseudogene 25provided by HGNC Primary source HGNC:HGNC:54872 See related Ensembl:ENSG00000234996 AllianceGenome:HGNC:54872 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AGPG Expression Biased expression in kidney (RPKM 2.2), small intestine (RPKM 0.7) and 6 other tissues See more
ACTG2, Official Symbol ACTG2provided by HGNC Official Full Name actin gamma 2, smooth muscleprovided by HGNC Primary source HGNC:HGNC:145 See related Ensembl:ENSG00000163017 MIM:102545; AllianceGenome:HGNC:145 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 ACT; ACTE; VSCM; ACTA3; ACTL3; ACTSG; VSCM1; MMIHS5 Summary Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010] Expression Biased expression in prostate (RPKM 1093.2), urinary bladder (RPKM 1063.1) and 7 other tissues See more Orthologs mouse all
ACTL10, Official Symbol ACTL10provided by HGNC Official Full Name actin like 10provided by HGNC Primary source HGNC:HGNC:16127 See related Ensembl:ENSG00000288649 AllianceGenome:HGNC:16127 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 dJ63M2.2; C20orf134 Summary Predicted to be part of dynactin complex. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
ACTL11P, Official Symbol ACTL11Pprovided by HGNC Official Full Name actin like 11, pseudogeneprovided by HGNC Primary source HGNC:HGNC:44626 See related Ensembl:ENSG00000234667 AllianceGenome:HGNC:44626 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 ACTBP13
ACTL6A, Official Symbol ACTL6Aprovided by HGNC Official Full Name actin like 6Aprovided by HGNC Primary source HGNC:HGNC:24124 See related Ensembl:ENSG00000136518 MIM:604958; AllianceGenome:HGNC:24124 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 Arp4; ACTL6; BAF53A; INO80K; SMARCN1; ARPN-BETA Summary This gene encodes a family member of actin-related proteins (ARPs), which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a 53 kDa subunit protein of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. Together with beta-actin, it is required for maximal ATPase activity of BRG1, and for the association of the BAF complex with chromatin/matrix. Three transcript variants that encode two different protein isoforms have been described. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 36.4), endometrium (RPKM 16.4) and 25 other tissues See more Orthologs mouse all
ACTL6B, Official Symbol ACTL6Bprovided by HGNC Official Full Name actin like 6Bprovided by HGNC Primary source HGNC:HGNC:160 See related Ensembl:ENSG00000077080 MIM:612458; AllianceGenome:HGNC:160 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 ACTL6; DEE76; BAF53B; EIEE76; IDDSSAD; SMARCN2; arpNalpha Summary The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a subunit of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. This subunit may be involved in the regulation of genes by structural modulation of their chromatin, specifically in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Expression Biased expression in brain (RPKM 15.4) and adrenal (RPKM 1.2) See more Orthologs mouse all
ACTL7A, Official Symbol ACTL7Aprovided by HGNC Official Full Name actin like 7Aprovided by HGNC Primary source HGNC:HGNC:161 See related Ensembl:ENSG00000187003 MIM:604303; AllianceGenome:HGNC:161 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 SPGF86 Summary The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7A), and related gene, ACTL7B, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7A gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. The ACTL7A gene is expressed in a wide variety of adult tissues, however, its exact function is not known. [provided by RefSeq, Jul 2008] Orthologs mouse all
ACTL7B, Official Symbol ACTL7Bprovided by HGNC Official Full Name actin like 7Bprovided by HGNC Primary source HGNC:HGNC:162 See related Ensembl:ENSG00000148156 MIM:604304; AllianceGenome:HGNC:162 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 Tact1 Summary The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7B), and related gene, ACTL7A, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7B gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. Unlike ACTL7A, the ACTL7B gene is expressed predominantly in the testis, however, its exact function is not known. [provided by RefSeq, Jul 2008] Orthologs mouse all
ACTL8, Official Symbol ACTL8provided by HGNC Official Full Name actin like 8provided by HGNC Primary source HGNC:HGNC:24018 See related Ensembl:ENSG00000117148 AllianceGenome:HGNC:24018 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 CT57 Summary Involved in epithelial cell differentiation. Predicted to be located in cytoplasm. Predicted to be part of dynactin complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 4.2) See more Orthologs all
ACTL9, Official Symbol ACTL9provided by HGNC Official Full Name actin like 9provided by HGNC Primary source HGNC:HGNC:28494 See related Ensembl:ENSG00000181786 MIM:619251; AllianceGenome:HGNC:28494 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 HSD21; SPGF53 Summary Predicted to be located in cytoplasm. Predicted to be part of dynactin complex. Implicated in spermatogenic failure 53. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
ACTN1, Official Symbol ACTN1provided by HGNC Official Full Name actinin alpha 1provided by HGNC Primary source HGNC:HGNC:163 See related Ensembl:ENSG00000072110 MIM:102575; AllianceGenome:HGNC:163 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 BDPLT15 Summary Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in endometrium (RPKM 77.5), urinary bladder (RPKM 66.3) and 24 other tissues See more Orthologs mouse all
ACTN2, Official Symbol ACTN2provided by HGNC Official Full Name actinin alpha 2provided by HGNC Primary source HGNC:HGNC:164 See related Ensembl:ENSG00000077522 MIM:102573; AllianceGenome:HGNC:164 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 MPD6; CMH23; CMYP8; CMD1AA; MYOCOZ Summary Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013] Expression Restricted expression toward heart (RPKM 342.0) See more Orthologs mouse all
ACTN3, Official Symbol ACTN3provided by HGNC Official Full Name actinin alpha 3provided by HGNC Primary source HGNC:HGNC:165 See related Ensembl:ENSG00000248746 MIM:102574; AllianceGenome:HGNC:165 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 ACTN3D Summary This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Feb 2014] Annotation information Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene. Expression Biased expression in testis (RPKM 1.6), prostate (RPKM 0.6) and 2 other tissues See more Orthologs mouse all
ACTN4, Official Symbol ACTN4provided by HGNC Official Full Name actinin alpha 4provided by HGNC Primary source HGNC:HGNC:166 See related Ensembl:ENSG00000130402 MIM:604638; AllianceGenome:HGNC:166 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 FSGS; FSGS1; ACTININ-4 Summary Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, alpha actinin isoform which is concentrated in the cytoplasm, and thought to be involved in metastatic processes. Mutations in this gene have been associated with focal and segmental glomerulosclerosis. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in placenta (RPKM 105.3), kidney (RPKM 104.8) and 25 other tissues See more Orthologs mouse all
ACTN4P1, Official Symbol ACTN4P1provided by HGNC Official Full Name actinin alpha 4 pseudogene 1provided by HGNC Primary source HGNC:HGNC:44028 See related Ensembl:ENSG00000213493 AllianceGenome:HGNC:44028 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ACTN4P2, Official Symbol ACTN4P2provided by HGNC Official Full Name actinin alpha 4 pseudogene 2provided by HGNC Primary source HGNC:HGNC:44032 See related AllianceGenome:HGNC:44032 Gene type pseudo RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ACTP1, Official Symbol ACTP1provided by HGNC Official Full Name actin family pseudogene 1provided by HGNC Primary source HGNC:HGNC:51621 See related Ensembl:ENSG00000229890 AllianceGenome:HGNC:51621 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ACTR10, Official Symbol ACTR10provided by HGNC Official Full Name actin related protein 10provided by HGNC Primary source HGNC:HGNC:17372 See related Ensembl:ENSG00000131966 MIM:619731; AllianceGenome:HGNC:17372 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 Arp10; Arp11; ACTR11; HARP11 Summary Predicted to be involved in retrograde axonal transport of mitochondrion. Predicted to be located in cytosol; extracellular region; and secretory granule. Predicted to be part of dynactin complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 22.5), adrenal (RPKM 21.9) and 25 other tissues See more Orthologs mouse all
ACTR1A, Official Symbol ACTR1Aprovided by HGNC Official Full Name actin related protein 1Aprovided by HGNC Primary source HGNC:HGNC:167 See related Ensembl:ENSG00000138107 MIM:605143; AllianceGenome:HGNC:167 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 ARP1; Arp1A; CTRN1 Summary This gene encodes a 42.6 kD subunit of dynactin, a macromolecular complex consisting of 10-11 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit is present in 8-13 copies per dynactin molecule, and is the most abundant molecule in the dynactin complex. It is an actin-related protein, and is approximately 60% identical at the amino acid level to conventional actin. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 46.1), heart (RPKM 30.0) and 25 other tissues See more Orthologs mouse all
ACTR1AP1, Official Symbol ACTR1AP1provided by HGNC Official Full Name ACTR1A pseudogene 1provided by HGNC Primary source HGNC:HGNC:54703 See related Ensembl:ENSG00000233370 AllianceGenome:HGNC:54703 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ACTR1B, Official Symbol ACTR1Bprovided by HGNC Official Full Name actin related protein 1Bprovided by HGNC Primary source HGNC:HGNC:168 See related Ensembl:ENSG00000115073 MIM:605144; AllianceGenome:HGNC:168 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 PC3; ARP1B; CTRN2 Summary This gene encodes a 42.3 kD subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein and is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit, like ACTR1A, is an actin-related protein. These two proteins, which are of equal length and share 90% amino acid identity, are present in a constant ratio of approximately 1:15 in the dynactin complex. [provided by RefSeq, Aug 2008] Expression Ubiquitous expression in spleen (RPKM 24.2), brain (RPKM 24.1) and 25 other tissues See more Orthologs mouse all
ACTR2, Official Symbol ACTR2provided by HGNC Official Full Name actin related protein 2provided by HGNC Primary source HGNC:HGNC:169 See related Ensembl:ENSG00000138071 MIM:604221; AllianceGenome:HGNC:169 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 ARP2 Summary The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in appendix (RPKM 135.1), lymph node (RPKM 134.7) and 25 other tissues See more Orthologs mouse all
ACTR3, Official Symbol ACTR3provided by HGNC Official Full Name actin related protein 3provided by HGNC Primary source HGNC:HGNC:170 See related Ensembl:ENSG00000115091 MIM:604222; AllianceGenome:HGNC:170 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 ARP3 Summary The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2013] Expression Ubiquitous expression in lymph node (RPKM 65.6), appendix (RPKM 59.7) and 24 other tissues See more Orthologs mouse all
ACTR3B, Official Symbol ACTR3Bprovided by HGNC Official Full Name actin related protein 3Bprovided by HGNC Primary source HGNC:HGNC:17256 See related Ensembl:ENSG00000133627 AllianceGenome:HGNC:17256 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 ARP11; ARP3BETA Summary This gene encodes a member of the actin-related proteins (ARP), which form multiprotein complexes and share 35-55% amino acid identity with conventional actin. The protein encoded by this gene may have a regulatory role in the actin cytoskeleton and induce cell-shape change and motility. Pseudogenes of this gene are located on chromosomes 2, 4, 10, 16, 22 and Y. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012] Expression Broad expression in brain (RPKM 3.7), testis (RPKM 1.9) and 25 other tissues See more Orthologs mouse all
ACTR3BP6, Official Symbol ACTR3BP6provided by HGNC Official Full Name ACTR3B pseudogene 6provided by HGNC Primary source HGNC:HGNC:38683 See related AllianceGenome:HGNC:38683 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ACTR3BP7, Official Symbol ACTR3BP7provided by HGNC Official Full Name ACTR3B pseudogene 7provided by HGNC Primary source HGNC:HGNC:54971 See related AllianceGenome:HGNC:54971 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ACTR3C, Official Symbol ACTR3Cprovided by HGNC Official Full Name actin related protein 3Cprovided by HGNC Primary source HGNC:HGNC:37282 See related Ensembl:ENSG00000106526 AllianceGenome:HGNC:37282 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 ARP11 Summary Predicted to enable ATP binding activity. Predicted to contribute to actin filament binding activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 1.0), adrenal (RPKM 0.6) and 25 other tissues See more Orthologs all
ACTR3P2, Official Symbol ACTR3P2provided by HGNC Official Full Name ACTR3 pseudogene 2provided by HGNC Primary source HGNC:HGNC:38676 See related Ensembl:ENSG00000232267 AllianceGenome:HGNC:38676 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ACTR5, Official Symbol ACTR5provided by HGNC Official Full Name actin related protein 5provided by HGNC Primary source HGNC:HGNC:14671 See related Ensembl:ENSG00000101442 MIM:619730; AllianceGenome:HGNC:14671 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 Arp5; INO80M Summary Involved in UV-damage excision repair and double-strand break repair. Located in cytoplasm and nucleus. Part of Ino80 complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 7.1), lymph node (RPKM 4.1) and 25 other tissues See more Orthologs mouse all
ACTR6, Official Symbol ACTR6provided by HGNC Official Full Name actin related protein 6provided by HGNC Primary source HGNC:HGNC:24025 See related Ensembl:ENSG00000075089 MIM:619729; AllianceGenome:HGNC:24025 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 ARP6; CDA12; hARP6; hARPX; HSPC281; MSTP136 Summary Predicted to enable nucleosome binding activity. Predicted to be involved in histone exchange. Predicted to be located in nucleus. Predicted to be part of Swr1 complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 10.9), testis (RPKM 9.8) and 25 other tissues See more Orthologs mouse all
ACTR6P1, Official Symbol ACTR6P1provided by HGNC Official Full Name ACTR6 pseudogene 1provided by HGNC Primary source HGNC:HGNC:44210 See related Ensembl:ENSG00000248915 AllianceGenome:HGNC:44210 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ACTR8, Official Symbol ACTR8provided by HGNC Official Full Name actin related protein 8provided by HGNC Primary source HGNC:HGNC:14672 See related Ensembl:ENSG00000113812 MIM:619716; AllianceGenome:HGNC:14672 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 ARP8; hArp8; INO80N Summary Predicted to enable ATP binding activity. Predicted to be involved in chromatin remodeling; double-strand break repair; and regulation of transcription, DNA-templated. Located in centrosome and nucleoplasm. Part of Ino80 complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 6.6), kidney (RPKM 6.1) and 25 other tissues See more Orthologs mouse all
ACTRT1, Official Symbol ACTRT1provided by HGNC Official Full Name actin related protein T1provided by HGNC Primary source HGNC:HGNC:24027 See related Ensembl:ENSG00000123165 MIM:300487; AllianceGenome:HGNC:24027 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 AIP1; ARIP1; ARPT1; HSD27 Summary This gene encodes a protein related to the cytoskeletal protein beta-actin. This protein is a major component of the calyx in the perinuclear theca of mammalian sperm heads, and it therefore likely functions in spermatid formation. This gene is intronless and is similar to a related gene located on chromosome 1. A related pseudogene has also been identified approximately 75 kb downstream of this gene on chromosome X. [provided by RefSeq, May 2010] Orthologs mouse all
ACTRT2, Official Symbol ACTRT2provided by HGNC Official Full Name actin related protein T2provided by HGNC Primary source HGNC:HGNC:24026 See related Ensembl:ENSG00000169717 MIM:608535; AllianceGenome:HGNC:24026 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 ARPM2; ARPT2; Arp-T2; HARPM2 Summary The protein encoded by this intronless gene belongs to the actin family. Studies have shown that this protein may be involved in cytoskeletal organization similar to other cytoplasmic actin-related protein (ARP) subfamily members. Antibody raised against the human protein has been used to detect the protein by immunoblotting and immunofluorescence microscopy, demonstrating its specific synthesis in the testis, late in spermatid differentiation, and its localization in the calyx. [provided by RefSeq, Jul 2008] Orthologs mouse all
ACTRT3, Official Symbol ACTRT3provided by HGNC Official Full Name actin related protein T3provided by HGNC Primary source HGNC:HGNC:24022 See related Ensembl:ENSG00000184378 MIM:608534; AllianceGenome:HGNC:24022 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 ARPM1; ARP-T3 Summary Predicted to be located in male germ cell nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 21.9), kidney (RPKM 1.3) and 1 other tissue See more Orthologs mouse all