psui3905/ncbi_genes_summary huggingface dataset:
ARV1, Official Symbol ARV1provided by HGNC Official Full Name ARV1 homolog, fatty acid homeostasis modulatorprovided by HGNC Primary source HGNC:HGNC:29561 See related Ensembl:ENSG00000173409 MIM:611647; AllianceGenome:HGNC:29561 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 DEE38; EIEE38 Summary this gene encodes a transmembrane protein that contains a conserved zinc ribbon motif at the N- terminus. A similar protein in mouse is thought to function in fatty acid homeostasis. Mutations in this gene are associated with early infantile epileptic encephalopathy 38. [provided by RefSeq, Nov 2016] Expression Ubiquitous expression in testis (RPKM 15.4), thyroid (RPKM 10.7) and 25 other tissues See more Orthologs mouse all
ARVCF, Official Symbol ARVCFprovided by HGNC Official Full Name ARVCF delta catenin family memberprovided by HGNC Primary source HGNC:HGNC:728 See related Ensembl:ENSG00000099889 MIM:602269; AllianceGenome:HGNC:728 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 Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family. This family plays an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. The ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS), a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. The ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein. [provided by RefSeq, Jun 2010] Expression Broad expression in spleen (RPKM 5.1), thyroid (RPKM 3.0) and 25 other tissues See more Orthologs mouse all
ARX, Official Symbol ARXprovided by HGNC Official Full Name aristaless related homeoboxprovided by HGNC Primary source HGNC:HGNC:18060 See related Ensembl:ENSG00000004848 MIM:300382; AllianceGenome:HGNC:18060 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 ISSX; PRTS; CT121; EIEE1; MRX29; MRX32; MRX33; MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1 Summary This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is thought to be involved in CNS development. Expansion of a polyalanine tract and other mutations in this gene cause X-linked cognitive disability and epilepsy. [provided by RefSeq, Jul 2016] Expression Biased expression in ovary (RPKM 16.9), brain (RPKM 2.3) and 2 other tissues See more Orthologs mouse all
AS3MT, Official Symbol AS3MTprovided by HGNC Official Full Name arsenite methyltransferaseprovided by HGNC Primary source HGNC:HGNC:17452 See related Ensembl:ENSG00000214435 MIM:611806; AllianceGenome:HGNC:17452 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 CYT19 Summary AS3MT catalyzes the transfer of a methyl group from S-adenosyl-L-methionine (AdoMet) to trivalent arsenical and may play a role in arsenic metabolism (Lin et al., 2002 [PubMed 11790780]).[supplied by OMIM, Mar 2008] Expression Biased expression in adrenal (RPKM 88.8), liver (RPKM 11.0) and 5 other tissues See more Orthologs mouse all
ASAH1, Official Symbol ASAH1provided by HGNC Official Full Name N-acylsphingosine amidohydrolase 1provided by HGNC Primary source HGNC:HGNC:735 See related Ensembl:ENSG00000104763 MIM:613468; AllianceGenome:HGNC:735 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 AC; PHP; ASAH; PHP32; ACDase; SMAPME Summary This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This enzyme is overexpressed in multiple human cancers and may play a role in cancer progression. Mutations in this gene are associated with the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy. [provided by RefSeq, Oct 2015] Expression Broad expression in thyroid (RPKM 225.8), heart (RPKM 191.4) and 24 other tissues See more Orthologs mouse all
ASAH2, Official Symbol ASAH2provided by HGNC Official Full Name N-acylsphingosine amidohydrolase 2provided by HGNC Primary source HGNC:HGNC:18860 See related Ensembl:ENSG00000188611 MIM:611202; AllianceGenome:HGNC:18860 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 HNAC1; BCDase; LCDase; NCDase; N-CDase Summary Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mitogenic and apoptosis-inducing activities, and its phosphorylated form functions as an intra- and intercellular second messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed 11328816]).[supplied by OMIM, Mar 2008] Expression Biased expression in duodenum (RPKM 35.9), small intestine (RPKM 31.0) and 1 other tissue See more Orthologs mouse all
ASAH2B, Official Symbol ASAH2Bprovided by HGNC Official Full Name N-acylsphingosine amidohydrolase 2Bprovided by HGNC Primary source HGNC:HGNC:23456 See related Ensembl:ENSG00000204147 MIM:610987; AllianceGenome:HGNC:23456 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 ASAH2C; ASAH2L; bA98I6.3; bA449O16.3 Summary Predicted to enable N-acylsphingosine amidohydrolase activity. Predicted to be involved in ceramide catabolic process; long-chain fatty acid biosynthetic process; and sphingosine biosynthetic process. Predicted to be active in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: In June, 2007, the name of this locus was changed to conform to the location published by Deloukas et al., PubMed 15164054. [15 Jun 2007] Expression Broad expression in duodenum (RPKM 26.6), small intestine (RPKM 20.9) and 18 other tissues See more Orthologs all
ASAP1, Official Symbol ASAP1provided by HGNC Official Full Name ArfGAP with SH3 domain, ankyrin repeat and PH domain 1provided by HGNC Primary source HGNC:HGNC:2720 See related Ensembl:ENSG00000153317 MIM:605953; AllianceGenome:HGNC:2720 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 PAP; PAG2; AMAP1; DDEF1; ZG14P; CENTB4 Summary This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Expression Ubiquitous expression in bone marrow (RPKM 18.3), spleen (RPKM 15.5) and 24 other tissues See more Orthologs mouse all
ASAP1-IT2, Official Symbol ASAP1-IT2provided by HGNC Official Full Name ASAP1 intronic transcript 2provided by HGNC Primary source HGNC:HGNC:48917 See related Ensembl:ENSG00000280543 AllianceGenome:HGNC:48917 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ASAP2, Official Symbol ASAP2provided by HGNC Official Full Name ArfGAP with SH3 domain, ankyrin repeat and PH domain 2provided by HGNC Primary source HGNC:HGNC:2721 See related Ensembl:ENSG00000151693 MIM:603817; AllianceGenome:HGNC:2721 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 PAP; PAG3; AMAP2; DDEF2; SHAG1; CENTB3; Pap-alpha Summary This gene encodes a multidomain protein containing an N-terminal alpha-helical region with a coiled-coil motif, followed by a pleckstrin homology (PH) domain, an Arf-GAP domain, an ankyrin homology region, a proline-rich region, and a C-terminal Src homology 3 (SH3) domain. The protein localizes in the Golgi apparatus and at the plasma membrane, where it colocalizes with protein tyrosine kinase 2-beta (PYK2). The encoded protein forms a stable complex with PYK2 in vivo. This interaction appears to be mediated by binding of its SH3 domain to the C-terminal proline-rich domain of PYK2. The encoded protein is tyrosine phosphorylated by activated PYK2. It has catalytic activity for class I and II ArfGAPs in vitro, and can bind the class III Arf ARF6 without immediate GAP activity. The encoded protein is believed to function as an ARF GAP that controls ARF-mediated vesicle budding when recruited to Golgi membranes. In addition, it functions as a substrate and downstream target for PYK2 and SRC, a pathway that may be involved in the regulation of vesicular transport. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] Expression Broad expression in testis (RPKM 24.6), kidney (RPKM 11.9) and 21 other tissues See more Orthologs mouse all
ASAP3, Official Symbol ASAP3provided by HGNC Official Full Name ArfGAP with SH3 domain, ankyrin repeat and PH domain 3provided by HGNC Primary source HGNC:HGNC:14987 See related Ensembl:ENSG00000088280 MIM:616594; AllianceGenome:HGNC:14987 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 ACAP4; UPLC1; CENTB6; DDEFL1 Summary This gene encodes a member of a subfamily of ADP-ribosylation factor(Arf) GTPase-activating proteins that contain additional ankyrin repeat and pleckstrin homology domains. The Arf GAP domain of this protein catalyzes the hydrolysis of GTP bound to Arf proteins. The encoded protein promotes cell differentiation and migration and has been implicated in cancer cell invasion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009] Expression Ubiquitous expression in ovary (RPKM 21.1), skin (RPKM 19.0) and 23 other tissues See more Orthologs mouse all
ASB1, Official Symbol ASB1provided by HGNC Official Full Name ankyrin repeat and SOCS box containing 1provided by HGNC Primary source HGNC:HGNC:16011 See related Ensembl:ENSG00000065802 MIM:605758; AllianceGenome:HGNC:16011 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 ASB-1 Summary The protein encoded by this gene contains an ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, targeting them for ubiquitination and degradation. [provided by RefSeq, Aug 2016] Expression Ubiquitous expression in brain (RPKM 9.2), heart (RPKM 8.5) and 25 other tissues See more Orthologs mouse all
ASB10, Official Symbol ASB10provided by HGNC Official Full Name ankyrin repeat and SOCS box containing 10provided by HGNC Primary source HGNC:HGNC:17185 See related Ensembl:ENSG00000146926 MIM:615054; AllianceGenome:HGNC:17185 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 GLC1F Summary The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. The SOCS box serves to couple suppressor of cytokine signaling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2008] Expression Biased expression in heart (RPKM 1.4), prostate (RPKM 0.5) and 1 other tissue See more Orthologs mouse all
ASB11, Official Symbol ASB11provided by HGNC Official Full Name ankyrin repeat and SOCS box containing 11provided by HGNC Primary source HGNC:HGNC:17186 See related Ensembl:ENSG00000165192 MIM:300626; AllianceGenome:HGNC:17186 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 is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011] Expression Biased expression in heart (RPKM 11.7), stomach (RPKM 1.0) and 1 other tissue See more Orthologs mouse all
ASB12, Official Symbol ASB12provided by HGNC Official Full Name ankyrin repeat and SOCS box containing 12provided by HGNC Primary source HGNC:HGNC:19763 See related Ensembl:ENSG00000198881 MIM:300891; AllianceGenome:HGNC:19763 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 is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Jan 2011] Expression Low expression observed in reference dataset See more Orthologs mouse all
ASB13, Official Symbol ASB13provided by HGNC Official Full Name ankyrin repeat and SOCS box containing 13provided by HGNC Primary source HGNC:HGNC:19765 See related Ensembl:ENSG00000196372 MIM:615055; AllianceGenome:HGNC:19765 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 is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants, both protein-coding and not protein-coding, have been described for this gene. [provided by RefSeq, Nov 2010] Expression Ubiquitous expression in kidney (RPKM 21.1), small intestine (RPKM 13.2) and 25 other tissues See more Orthologs mouse all
ASB14, Official Symbol ASB14provided by HGNC Official Full Name ankyrin repeat and SOCS box containing 14provided by HGNC Primary source HGNC:HGNC:19766 See related Ensembl:ENSG00000239388 AllianceGenome:HGNC:19766 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 is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2008] Expression Ubiquitous expression in heart (RPKM 1.8), bone marrow (RPKM 1.0) and 25 other tissues See more Orthologs mouse all
ASB15, Official Symbol ASB15provided by HGNC Official Full Name ankyrin repeat and SOCS box containing 15provided by HGNC Primary source HGNC:HGNC:19767 See related Ensembl:ENSG00000146809 MIM:619757; AllianceGenome:HGNC:19767 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of the suppressor of cytokine signaling box superfamily. The proteins in this superfamily participate in the ubiquitin-proteasome system for the degradation of proteins in the cell cycle and signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Expression Biased expression in heart (RPKM 6.0), kidney (RPKM 2.1) and 2 other tissues See more Orthologs mouse all
ASB15-AS1, Official Symbol ASB15-AS1provided by HGNC Official Full Name ASB15 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40904 See related Ensembl:ENSG00000230442 AllianceGenome:HGNC:40904 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 1.3) See more
ASB16, Official Symbol ASB16provided by HGNC Official Full Name ankyrin repeat and SOCS box containing 16provided by HGNC Primary source HGNC:HGNC:19768 See related Ensembl:ENSG00000161664 MIM:615056; AllianceGenome:HGNC:19768 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 is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in spleen (RPKM 1.6), prostate (RPKM 1.5) and 25 other tissues See more Orthologs mouse all
ASB16-AS1, Official Symbol ASB16-AS1provided by HGNC Official Full Name ASB16 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:25442 See related Ensembl:ENSG00000267080 AllianceGenome:HGNC:25442 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 C17orf65 Expression Ubiquitous expression in spleen (RPKM 3.5), lymph node (RPKM 3.0) and 25 other tissues See more
ASB17, Official Symbol ASB17provided by HGNC Official Full Name ankyrin repeat and SOCS box containing 17provided by HGNC Primary source HGNC:HGNC:19769 See related Ensembl:ENSG00000154007 MIM:619936; AllianceGenome:HGNC:19769 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 Asb-17 Summary Predicted to be involved in intracellular signal transduction and protein ubiquitination. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 21.2) See more Orthologs mouse all
ASB18, Official Symbol ASB18provided by HGNC Official Full Name ankyrin repeat and SOCS box containing 18provided by HGNC Primary source HGNC:HGNC:19770 See related Ensembl:ENSG00000182177 AllianceGenome:HGNC:19770 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 ASB-18 Summary The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Feb 2017] Expression Low expression observed in reference dataset See more Orthologs mouse all
ASB2, Official Symbol ASB2provided by HGNC Official Full Name ankyrin repeat and SOCS box containing 2provided by HGNC Primary source HGNC:HGNC:16012 See related Ensembl:ENSG00000100628 MIM:605759; AllianceGenome:HGNC:16012 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 ASB-2 Summary This gene encodes a member of the ankyrin repeat and SOCS box-containing (ASB) protein family. These proteins play a role in protein degradation by coupling suppressor of cytokine signalling (SOCS) proteins with the elongin BC complex. The encoded protein is a subunit of a multimeric E3 ubiquitin ligase complex that mediates the degradation of actin-binding proteins. This gene plays a role in retinoic acid-induced growth inhibition and differentiation of myeloid leukemia cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] Expression Biased expression in heart (RPKM 15.5), prostate (RPKM 8.6) and 12 other tissues See more Orthologs mouse all
ASB3, Official Symbol ASB3provided by HGNC Official Full Name ankyrin repeat and SOCS box containing 3provided by HGNC Primary source HGNC:HGNC:16013 See related Ensembl:ENSG00000115239 MIM:605760; AllianceGenome:HGNC:16013 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 ASB-3 Summary The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2011] Expression Ubiquitous expression in brain (RPKM 8.4), testis (RPKM 6.9) and 25 other tissues See more Orthologs mouse all
ASB4, Official Symbol ASB4provided by HGNC Official Full Name ankyrin repeat and SOCS box containing 4provided by HGNC Primary source HGNC:HGNC:16009 See related Ensembl:ENSG00000005981 MIM:605761; AllianceGenome:HGNC:16009 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 ASB-4 Summary The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but some of the full length sequences are not known. [provided by RefSeq, Jul 2008] Expression Biased expression in adrenal (RPKM 15.4) and placenta (RPKM 0.7) See more Orthologs mouse all
ASB5, Official Symbol ASB5provided by HGNC Official Full Name ankyrin repeat and SOCS box containing 5provided by HGNC Primary source HGNC:HGNC:17180 See related Ensembl:ENSG00000164122 MIM:615050; AllianceGenome:HGNC:17180 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 ASB-5 Summary The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but their full length sequences are not known. [provided by RefSeq, Jul 2008] Expression Biased expression in prostate (RPKM 5.3), urinary bladder (RPKM 4.0) and 6 other tissues See more Orthologs mouse all
ASB6, Official Symbol ASB6provided by HGNC Official Full Name ankyrin repeat and SOCS box containing 6provided by HGNC Primary source HGNC:HGNC:17181 See related Ensembl:ENSG00000148331 MIM:615051; AllianceGenome:HGNC:17181 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 a family of ankyrin repeat proteins that, along with four other protein families, contain a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box, similar to the F-box, acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011] Expression Ubiquitous expression in testis (RPKM 8.1), bone marrow (RPKM 7.8) and 25 other tissues See more Orthologs mouse all
ASB7, Official Symbol ASB7provided by HGNC Official Full Name ankyrin repeat and SOCS box containing 7provided by HGNC Primary source HGNC:HGNC:17182 See related Ensembl:ENSG00000183475 MIM:615052; AllianceGenome:HGNC:17182 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 a family of ankyrin repeat proteins that, along with four other protein families, contains a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. In this way, SOCS box containing proteins may regulate protein turnover by targeting proteins for polyubiquination and, therefore, for proteasome-mediated degradation. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 4.8), thyroid (RPKM 4.2) and 25 other tissues See more Orthologs mouse all
ASB8, Official Symbol ASB8provided by HGNC Official Full Name ankyrin repeat and SOCS box containing 8provided by HGNC Primary source HGNC:HGNC:17183 See related Ensembl:ENSG00000177981 MIM:615053; AllianceGenome:HGNC:17183 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 PP14212 Summary Predicted to be involved in intracellular signal transduction and protein ubiquitination. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 11.8), kidney (RPKM 11.3) and 25 other tissues See more Orthologs mouse all
ASB9, Official Symbol ASB9provided by HGNC Official Full Name ankyrin repeat and SOCS box containing 9provided by HGNC Primary source HGNC:HGNC:17184 See related Ensembl:ENSG00000102048 MIM:300890; AllianceGenome:HGNC:17184 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of the ankyrin repeat and suppressor of cytokine signaling (SOCS) box protein family. Members of this family can interact with the elongin B-C adapter complex via their SOCS box domain and further complex with the cullin and ring box proteins to form E3 ubiquitin ligase complexes. They may function to mediate the substrate-recognition of the E3 ubiquitin ligases. A transcribed pseudogene of this gene has been identified on chromosome 15. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] Expression Biased expression in testis (RPKM 16.8), kidney (RPKM 5.8) and 8 other tissues See more Orthologs mouse all
ASB9P1, Official Symbol ASB9P1provided by HGNC Official Full Name ankyrin repeat and SOCS box containing 9 pseudogene 1provided by HGNC Primary source HGNC:HGNC:20972 See related AllianceGenome:HGNC:20972 Gene type pseudo RefSeq status PROVISIONAL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ASCC1, Official Symbol ASCC1provided by HGNC Official Full Name activating signal cointegrator 1 complex subunit 1provided by HGNC Primary source HGNC:HGNC:24268 See related Ensembl:ENSG00000138303 MIM:614215; AllianceGenome:HGNC:24268 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 p50; CGI-18; SMABF2; ASC1p50 Summary This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in testis (RPKM 7.6), brain (RPKM 6.4) and 25 other tissues See more Orthologs mouse all
ASCC2, Official Symbol ASCC2provided by HGNC Official Full Name activating signal cointegrator 1 complex subunit 2provided by HGNC Primary source HGNC:HGNC:24103 See related Ensembl:ENSG00000100325 MIM:614216; AllianceGenome:HGNC:24103 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 p100; ASC1p100 Summary Predicted to enable ubiquitin binding activity. Involved in regulation of transcription, DNA-templated; rescue of stalled ribosome; and ribosome-associated ubiquitin-dependent protein catabolic process. Located in nucleus. Part of activating signal cointegrator 1 complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 13.0), testis (RPKM 12.7) and 25 other tissues See more Orthologs mouse all
ASCC3, Official Symbol ASCC3provided by HGNC Official Full Name activating signal cointegrator 1 complex subunit 3provided by HGNC Primary source HGNC:HGNC:18697 See related Ensembl:ENSG00000112249 MIM:614217; AllianceGenome:HGNC:18697 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 RNAH; HELIC1; ASC1p200 Summary This gene encodes a protein that belongs to a family of helicases that are involved in the ATP-dependent unwinding of nucleic acid duplexes. The encoded protein is the largest subunit of the activating signal cointegrator 1 complex that is involved in DNA repair and resistance to alkylation damage. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] Expression Ubiquitous expression in urinary bladder (RPKM 5.0), colon (RPKM 4.9) and 25 other tissues See more Orthologs mouse all
ASCL1, Official Symbol ASCL1provided by HGNC Official Full Name achaete-scute family bHLH transcription factor 1provided by HGNC Primary source HGNC:HGNC:738 See related Ensembl:ENSG00000139352 MIM:100790; AllianceGenome:HGNC:738 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 ASH1; HASH1; MASH1; bHLHa46 Summary This gene encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors. The protein activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. This protein plays a role in the neuronal commitment and differentiation and in the generation of olfactory and autonomic neurons. Mutations in this gene may contribute to the congenital central hypoventilation syndrome (CCHS) phenotype in rare cases. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 6.3), stomach (RPKM 0.9) and 1 other tissue See more Orthologs mouse all
ASCL2, Official Symbol ASCL2provided by HGNC Official Full Name achaete-scute family bHLH transcription factor 2provided by HGNC Primary source HGNC:HGNC:739 See related Ensembl:ENSG00000183734 MIM:601886; AllianceGenome:HGNC:739 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; HASH2; MASH2; bHLHa45 Summary This gene is a member of the basic helix-loop-helix (BHLH) family of transcription factors. It activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. Involved in the determination of the neuronal precursors in the peripheral nervous system and the central nervous system. [provided by RefSeq, Jul 2008] Expression Broad expression in colon (RPKM 4.3), placenta (RPKM 2.5) and 14 other tissues See more Orthologs mouse all
ASCL3, Official Symbol ASCL3provided by HGNC Official Full Name achaete-scute family bHLH transcription factor 3provided by HGNC Primary source HGNC:HGNC:740 See related Ensembl:ENSG00000176009 MIM:609154; AllianceGenome:HGNC:740 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 SGN1; HASH3; bHLHa42 Summary Basic helix-loop-helix transcription factors, such as ASCL3, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM, Mar 2008] Expression Biased expression in salivary gland (RPKM 1.2) and testis (RPKM 0.1) See more Orthologs mouse all
ASCL4, Official Symbol ASCL4provided by HGNC Official Full Name achaete-scute family bHLH transcription factor 4provided by HGNC Primary source HGNC:HGNC:24311 See related Ensembl:ENSG00000187855 MIM:609155; AllianceGenome:HGNC:24311 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 ASH-4; HASH4; bHLHa44 Summary Basic helix-loop-helix transcription factors, such as ASCL4, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM, Mar 2008] Orthologs mouse all
ASCL5, Official Symbol ASCL5provided by HGNC Official Full Name achaete-scute family bHLH transcription factor 5provided by HGNC Primary source HGNC:HGNC:33169 See related Ensembl:ENSG00000232237 AllianceGenome:HGNC:33169 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 ASH-5; AmeloD; bHLHa47 Summary Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to be part of RNA polymerase II transcription regulator complex and chromatin. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
ASDURF, Official Symbol ASDURFprovided by HGNC Official Full Name ASNSD1 upstream open reading frameprovided by HGNC Primary source HGNC:HGNC:53619 See related Ensembl:ENSG00000286053 MIM:619740; AllianceGenome:HGNC:53619 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 ASNSD1; NS3TP1; ASNSD1-SEP Summary Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
ASF1A, Official Symbol ASF1Aprovided by HGNC Official Full Name anti-silencing function 1A histone chaperoneprovided by HGNC Primary source HGNC:HGNC:20995 See related Ensembl:ENSG00000111875 MIM:609189; AllianceGenome:HGNC:20995 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CIA; CGI-98; HSPC146 Summary This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The protein is a key component of a histone donor complex that functions in nucleosome assembly. It interacts with histones H3 and H4, and functions together with a chromatin assembly factor during DNA replication and repair. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 9.8), brain (RPKM 9.4) and 25 other tissues See more Orthologs mouse all
ASF1B, Official Symbol ASF1Bprovided by HGNC Official Full Name anti-silencing function 1B histone chaperoneprovided by HGNC Primary source HGNC:HGNC:20996 See related Ensembl:ENSG00000105011 MIM:609190; AllianceGenome:HGNC:20996 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CIA-II Summary This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The encoded protein is the substrate of the tousled-like kinase family of cell cycle-regulated kinases, and may play a key role in modulating the nucleosome structure of chromatin by ensuring a constant supply of histones at sites of nucleosome assembly. [provided by RefSeq, Jul 2008] Expression Biased expression in testis (RPKM 18.2), lymph node (RPKM 12.4) and 13 other tissues See more Orthologs mouse all
ASGR1, Official Symbol ASGR1provided by HGNC Official Full Name asialoglycoprotein receptor 1provided by HGNC Primary source HGNC:HGNC:742 See related Ensembl:ENSG00000141505 MIM:108360; AllianceGenome:HGNC:742 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 HL-1; ASGPR; ASGPR1; CLEC4H1 Summary This gene encodes a subunit of the asialoglycoprotein receptor. This receptor is a transmembrane protein that plays a critical role in serum glycoprotein homeostasis by mediating the endocytosis and lysosomal degradation of glycoproteins with exposed terminal galactose or N-acetylgalactosamine residues. The asialoglycoprotein receptor may facilitate hepatic infection by multiple viruses including hepatitis B, and is also a target for liver-specific drug delivery. The asialoglycoprotein receptor is a hetero-oligomeric protein composed of major and minor subunits, which are encoded by different genes. The protein encoded by this gene is the more abundant major subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection. Expression Biased expression in liver (RPKM 145.0) and testis (RPKM 4.7) See more Orthologs all
ASGR2, Official Symbol ASGR2provided by HGNC Official Full Name asialoglycoprotein receptor 2provided by HGNC Primary source HGNC:HGNC:743 See related Ensembl:ENSG00000161944 MIM:108361; AllianceGenome:HGNC:743 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 HL-2; HBXBP; ASGPR2; ASGP-R2; CLEC4H2 Summary This gene encodes a subunit of the asialoglycoprotein receptor. This receptor is a transmembrane protein that plays a critical role in serum glycoprotein homeostasis by mediating the endocytosis and lysosomal degradation of glycoproteins with exposed terminal galactose or N-acetylgalactosamine residues. The asialoglycoprotein receptor may facilitate hepatic infection by multiple viruses including hepatitis B, and is also a target for liver-specific drug delivery. The asialoglycoprotein receptor is a hetero-oligomeric protein composed of major and minor subunits, which are encoded by different genes. The protein encoded by this gene is the less abundant minor subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] Expression Biased expression in liver (RPKM 120.6) and gall bladder (RPKM 6.7) See more Orthologs mouse all
ASH1L, Official Symbol ASH1Lprovided by HGNC Official Full Name ASH1 like histone lysine methyltransferaseprovided by HGNC Primary source HGNC:HGNC:19088 See related Ensembl:ENSG00000116539 MIM:607999; AllianceGenome:HGNC:19088 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 ASH1; KMT2H; MRD52; ASH1L1 Summary This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in ovary (RPKM 12.4), thyroid (RPKM 10.9) and 25 other tissues See more Orthologs mouse all
ASH1L-AS1, Official Symbol ASH1L-AS1provided by HGNC Official Full Name ASH1L antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44146 See related Ensembl:ENSG00000235919 AllianceGenome:HGNC:44146 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 APPLE
ASH1L-IT1, Official Symbol ASH1L-IT1provided by HGNC Official Full Name ASH1L intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41449 See related AllianceGenome:HGNC:41449 Gene type ncRNA Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release