psui3905/ncbi_genes_summary huggingface dataset:
VWDE, Official Symbol VWDEprovided by HGNC Official Full Name von Willebrand factor D and EGF domainsprovided by HGNC Primary source HGNC:HGNC:21897 See related Ensembl:ENSG00000146530 AllianceGenome:HGNC:21897 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable signaling receptor binding activity. Predicted to be involved in anatomical structure development. Predicted to be active in cell surface and extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in thyroid (RPKM 1.2), heart (RPKM 0.6) and 13 other tissues See more Orthologs mouse all
VWF, Official Symbol VWFprovided by HGNC Official Full Name von Willebrand factorprovided by HGNC Primary source HGNC:HGNC:12726 See related Ensembl:ENSG00000110799 MIM:613160; AllianceGenome:HGNC:12726 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 VWD; F8VWF Summary This gene encodes a glycoprotein involved in hemostasis. The encoded preproprotein is proteolytically processed following assembly into large multimeric complexes. These complexes function in the adhesion of platelets to sites of vascular injury and the transport of various proteins in the blood. Mutations in this gene result in von Willebrand disease, an inherited bleeding disorder. An unprocessed pseudogene has been found on chromosome 22. [provided by RefSeq, Oct 2015] Expression Broad expression in fat (RPKM 93.4), lung (RPKM 58.7) and 16 other tissues See more Orthologs mouse all
VWFP1, Official Symbol VWFP1provided by HGNC Official Full Name von Willebrand factor pseudogene 1provided by HGNC Primary source HGNC:HGNC:12727 See related Ensembl:ENSG00000241717 AllianceGenome:HGNC:12727 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 VWFP; F8VWFL; F8VWFP
VXN, Official Symbol VXNprovided by HGNC Official Full Name vexinprovided by HGNC Primary source HGNC:HGNC:28498 See related Ensembl:ENSG00000169085 AllianceGenome:HGNC:28498 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 C8orf46 Summary Predicted to be involved in neuron differentiation. Predicted to be located in nucleus and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 41.0) and prostate (RPKM 1.1) See more Orthologs mouse all
WAC, Official Symbol WACprovided by HGNC Official Full Name WW domain containing adaptor with coiled-coilprovided by HGNC Primary source HGNC:HGNC:17327 See related Ensembl:ENSG00000095787 MIM:615049; AllianceGenome:HGNC:17327 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 Wwp4; DESSH; BM-016; PRO1741 Summary The protein encoded by this gene contains a WW domain, which is a protein module found in a wide range of signaling proteins. This domain mediates protein-protein interactions and binds proteins containing short linear peptide motifs that are proline-rich or contain at least one proline. This gene product shares 94% sequence identity with the WAC protein in mouse, however, its exact function is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008] Expression Ubiquitous expression in bone marrow (RPKM 29.5), thyroid (RPKM 26.4) and 25 other tissues See more Orthologs mouse all
WAKMAR2, Official Symbol WAKMAR2provided by HGNC Official Full Name wound and keratinocyte migration associated lncRNA 2provided by HGNC Primary source HGNC:HGNC:53754 See related Ensembl:ENSG00000237499 MIM:618508; AllianceGenome:HGNC:53754 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 lnc-TNFAIP3 Expression Broad expression in skin (RPKM 4.7), bone marrow (RPKM 3.3) and 16 other tissues See more
WAPL, Official Symbol WAPLprovided by HGNC Official Full Name WAPL cohesin release factorprovided by HGNC Primary source HGNC:HGNC:23293 See related Ensembl:ENSG00000062650 MIM:610754; AllianceGenome:HGNC:23293 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 FOE; WAPAL; KIAA0261 Summary Involved in several processes, including negative regulation of DNA replication; negative regulation of chromatin binding activity; and regulation of sister chromatid cohesion. Located in several cellular components, including Golgi apparatus; intercellular bridge; and microtubule cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 17.0), lymph node (RPKM 9.9) and 25 other tissues See more Orthologs mouse all
WARS1, Official Symbol WARS1provided by HGNC Official Full Name tryptophanyl-tRNA synthetase 1provided by HGNC Primary source HGNC:HGNC:12729 See related Ensembl:ENSG00000140105 MIM:191050; AllianceGenome:HGNC:12729 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 HMN9; WARS; IFI53; IFP53; GAMMA-2; NEDMSBA Summary Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. Tryptophanyl-tRNA synthetase (WARS) catalyzes the aminoacylation of tRNA(trp) with tryptophan and is induced by interferon. Tryptophanyl-tRNA synthetase belongs to the class I tRNA synthetase family. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in placenta (RPKM 128.2), appendix (RPKM 87.1) and 24 other tissues See more Orthologs mouse all
WARS1P1, Official Symbol WARS1P1provided by HGNC Official Full Name tryptophanyl-tRNA synthetase 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:50482 See related Ensembl:ENSG00000225802 AllianceGenome:HGNC:50482 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 WARSP1
WARS2, Official Symbol WARS2provided by HGNC Official Full Name tryptophanyl tRNA synthetase 2, mitochondrialprovided by HGNC Primary source HGNC:HGNC:12730 See related Ensembl:ENSG00000116874 MIM:604733; AllianceGenome:HGNC:12730 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 TrpRS; PKDYS3; NEMMLAS; mtTrpRS Summary Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. This gene encodes the mitochondrial tryptophanyl-tRNA synthetase. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 4.3), colon (RPKM 4.1) and 25 other tissues See more Orthologs mouse all
WARS2-AS1, Official Symbol WARS2-AS1provided by HGNC Official Full Name WARS2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40612 See related Ensembl:ENSG00000231365 AllianceGenome:HGNC:40612 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
WARS2-IT1, Official Symbol WARS2-IT1provided by HGNC Official Full Name WARS2 intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41393 See related AllianceGenome:HGNC:41393 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
WARS2P1, Official Symbol WARS2P1provided by HGNC Official Full Name tryptophanyl tRNA synthetase 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:45116 See related Ensembl:ENSG00000227209 AllianceGenome:HGNC:45116 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
WAS, Official Symbol WASprovided by HGNC Official Full Name WASP actin nucleation promoting factorprovided by HGNC Primary source HGNC:HGNC:12731 See related Ensembl:ENSG00000015285 MIM:300392; AllianceGenome:HGNC:12731 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 THC; IMD2; SCNX; THC1; WASP; WASPA Summary The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton. The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins. Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3. Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene. The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients. A transcript variant arising as a result of alternative promoter usage, and containing a different 5' UTR sequence, has been described, however, its full-length nature is not known. [provided by RefSeq, Jul 2008] Expression Broad expression in spleen (RPKM 29.3), appendix (RPKM 29.1) and 15 other tissues See more Orthologs mouse all
WASF1, Official Symbol WASF1provided by HGNC Official Full Name WASP family member 1provided by HGNC Primary source HGNC:HGNC:12732 See related Ensembl:ENSG00000112290 MIM:605035; AllianceGenome:HGNC:12732 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 WAVE; SCAR1; WAVE1; NEDALVS Summary The protein encoded by this gene, a member of the Wiskott-Aldrich syndrome protein (WASP)-family, plays a critical role downstream of Rac, a Rho-family small GTPase, in regulating the actin cytoskeleton required for membrane ruffling. It has been shown to associate with an actin nucleation core Arp2/3 complex while enhancing actin polymerization in vitro. Wiskott-Aldrich syndrome is a disease of the immune system, likely due to defects in regulation of actin cytoskeleton. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 38.3), testis (RPKM 35.2) and 8 other tissues See more Orthologs mouse all
WASF1P1, Official Symbol WASF1P1provided by HGNC Official Full Name WASF1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:51533 See related Ensembl:ENSG00000227597 AllianceGenome:HGNC:51533 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
WASF2, Official Symbol WASF2provided by HGNC Official Full Name WASP family member 2provided by HGNC Primary source HGNC:HGNC:12733 See related Ensembl:ENSG00000158195 MIM:605875; AllianceGenome:HGNC:12733 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 IMD2; SCAR2; WASF4; WAVE2; dJ393P12.2 Summary This gene encodes a member of the Wiskott-Aldrich syndrome protein family. The gene product is a protein that forms a multiprotein complex that links receptor kinases and actin. Binding to actin occurs through a C-terminal verprolin homology domain in all family members. The multiprotein complex serves to tranduce signals that involve changes in cell shape, motility or function. The published map location (PMID:10381382) has been changed based on recent genomic sequence comparisons, which indicate that the expressed gene is located on chromosome 1, and a pseudogene may be located on chromosome X. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011] Expression Ubiquitous expression in esophagus (RPKM 43.4), ovary (RPKM 33.8) and 25 other tissues See more Orthologs mouse all
WASF3, Official Symbol WASF3provided by HGNC Official Full Name WASP family member 3provided by HGNC Primary source HGNC:HGNC:12734 See related Ensembl:ENSG00000132970 MIM:605068; AllianceGenome:HGNC:12734 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 SCAR3; WAVE3; Brush-1 Summary This gene encodes a member of the Wiskott-Aldrich syndrome protein family. The gene product is a protein that forms a multiprotein complex that links receptor kinases and actin. Binding to actin occurs through a C-terminal verprolin homology domain in all family members. The multiprotein complex serves to tranduce signals that involve changes in cell shape, motility or function. A pseudogene of this gene have been defined on chromosome 6. Alternative splicing results in multiple transcript variants [provided by RefSeq, May 2014] Expression Broad expression in brain (RPKM 34.0), fat (RPKM 12.7) and 15 other tissues See more Orthologs mouse all
WASF3-AS1, Official Symbol WASF3-AS1provided by HGNC Official Full Name WASF3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:39841 See related AllianceGenome:HGNC:39841 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
WASH5P, Official Symbol WASH5Pprovided by HGNC Official Full Name WASP family homolog 5, pseudogeneprovided by HGNC Primary source HGNC:HGNC:33884 See related Ensembl:ENSG00000282458 AllianceGenome:HGNC:33884 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 Ubiquitous expression in skin (RPKM 30.9), spleen (RPKM 22.2) and 25 other tissues See more
WASH6P, Official Symbol WASH6Pprovided by HGNC Official Full Name WASP family homolog 6, pseudogeneprovided by HGNC Primary source HGNC:HGNC:31685 See related Ensembl:ENSG00000182484 Ensembl:ENSG00000292372 AllianceGenome:HGNC:31685 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 WASH; FAM39A; CXYorf1 Summary Predicted to enable alpha-tubulin binding activity. Predicted to be involved in Arp2/3 complex-mediated actin nucleation and retrograde transport, endosome to Golgi. Predicted to be located in early endosome and recycling endosome. Predicted to be part of WASH complex. [provided by Alliance of Genome Resources, Apr 2022]
WASH8P, Official Symbol WASH8Pprovided by HGNC Official Full Name WAS protein family homolog 8, pseudogeneprovided by HGNC Primary source HGNC:HGNC:53913 See related Ensembl:ENSG00000226210 AllianceGenome:HGNC:53913 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 Ubiquitous expression in spleen (RPKM 32.4), testis (RPKM 31.8) and 25 other tissues See more
WASHC1, Official Symbol WASHC1provided by HGNC Official Full Name WASH complex subunit 1provided by HGNC Primary source HGNC:HGNC:24361 See related Ensembl:ENSG00000181404 MIM:613632; AllianceGenome:HGNC:24361 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 WASH; WASH1; FAM39E Summary Enables alpha-tubulin binding activity and ubiquitin protein ligase binding activity. Involved in several processes, including Arp2/3 complex-mediated actin nucleation; endosomal transport; and positive regulation of pseudopodium assembly. Located in early endosome. Part of WASH complex. Colocalizes with exocyst. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 16.3), spleen (RPKM 13.7) and 25 other tissues See more Orthologs mouse all
WASHC2A, Official Symbol WASHC2Aprovided by HGNC Official Full Name WASH complex subunit 2Aprovided by HGNC Primary source HGNC:HGNC:23416 See related Ensembl:ENSG00000099290 AllianceGenome:HGNC:23416 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 FAM21A; FAM21B; bA98I6.1; bA56A21.1 Summary Predicted to enable phosphatidylinositol phosphate binding activity and retromer complex binding activity. Involved in protein localization to endosome. Located in cytosol and nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 26.3), bone marrow (RPKM 21.0) and 25 other tissues See more Orthologs all
WASHC2C, Official Symbol WASHC2Cprovided by HGNC Official Full Name WASH complex subunit 2Cprovided by HGNC Primary source HGNC:HGNC:23414 See related Ensembl:ENSG00000172661 MIM:613631; AllianceGenome:HGNC:23414 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 VPEF; FAM21A; FAM21C Summary Enables phosphatidylinositol phosphate binding activity; phosphatidylinositol-3,4-bisphosphate binding activity; and retromer complex binding activity. Involved in several processes, including endosomal transport; negative regulation of barbed-end actin filament capping; and regulation of substrate adhesion-dependent cell spreading. Located in cytosol; early endosome; and nucleolus. Part of WASH complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 23.7), thyroid (RPKM 19.2) and 25 other tissues See more Orthologs mouse all
WASHC3, Official Symbol WASHC3provided by HGNC Official Full Name WASH complex subunit 3provided by HGNC Primary source HGNC:HGNC:24256 See related Ensembl:ENSG00000120860 MIM:619925; AllianceGenome:HGNC:24256 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 CCDC53; CGI-116 Summary Predicted to be involved in actin filament polymerization and exocytosis. Part of WASH complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 48.2), adrenal (RPKM 16.9) and 24 other tissues See more Orthologs mouse all
WASHC4, Official Symbol WASHC4provided by HGNC Official Full Name WASH complex subunit 4provided by HGNC Primary source HGNC:HGNC:29174 See related Ensembl:ENSG00000136051 MIM:615748; AllianceGenome:HGNC:29174 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 SWIP; MRT43; KIAA1033 Summary This gene encodes a component of the WASH complex, which functions in the intracellular transport of endosomes. Mutations in this gene have been detected in individuals with autosomal recessive cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] Expression Ubiquitous expression in lymph node (RPKM 16.8), appendix (RPKM 15.8) and 25 other tissues See more Orthologs mouse all
WASHC5, Official Symbol WASHC5provided by HGNC Official Full Name WASH complex subunit 5provided by HGNC Primary source HGNC:HGNC:28984 See related Ensembl:ENSG00000164961 MIM:610657; AllianceGenome:HGNC:28984 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 RTSC; SPG8; RTSC1; KIAA0196 Summary This gene encodes a 134 kDa protein named strumpellin that is predicted to have multiple transmembrane domains and a spectrin-repeat-containing domain. This ubiquitously expressed gene has its highest expression in skeletal muscle. The protein is named for Strumpell disease; a form of hereditary spastic paraplegia (HSP). Spastic paraplegias are a diverse group of disorders in which the autosomal dominant forms are characterized by progressive, lower extremity spasticity caused by axonal degeneration in the terminal portions of the longest descending and ascending corticospinal tracts. More than 30 loci (SPG1-33) have been implicated in hereditary spastic paraplegia diseases. [provided by RefSeq, Aug 2009] Expression Ubiquitous expression in thyroid (RPKM 11.8), urinary bladder (RPKM 9.7) and 25 other tissues See more Orthologs mouse all
WASHC5-AS1, Official Symbol WASHC5-AS1provided by HGNC Official Full Name WASHC5 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:43440 See related Ensembl:ENSG00000253167 AllianceGenome:HGNC:43440 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 KIAA0196-AS1
WASIR1, Official Symbol WASIR1provided by HGNC Official Full Name WASH and IL9R antisense RNA 1provided by HGNC Primary source HGNC:HGNC:38513 See related Ensembl:ENSG00000185203 Ensembl:ENSG00000292370 AllianceGenome:HGNC:38513 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 NCRNA00286B Expression Biased expression in ovary (RPKM 1.3), thyroid (RPKM 0.3) and 10 other tissues See more
WASIR2, Official Symbol WASIR2provided by HGNC Official Full Name WASH and IL9R antisense RNA 2provided by HGNC Primary source HGNC:HGNC:38609 See related Ensembl:ENSG00000231439 AllianceGenome:HGNC:38609 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 NCRNA00286A Expression Biased expression in ovary (RPKM 2.3), thyroid (RPKM 0.7) and 8 other tissues See more
WASL, Official Symbol WASLprovided by HGNC Official Full Name WASP like actin nucleation promoting factorprovided by HGNC Primary source HGNC:HGNC:12735 See related Ensembl:ENSG00000106299 MIM:605056; AllianceGenome:HGNC:12735 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 NWASP; WASPB; N-WASP Summary This gene encodes a member of the Wiskott-Aldrich syndrome (WAS) protein family. Wiskott-Aldrich syndrome proteins share similar domain structure, and associate with a variety of signaling molecules to alter the actin cytoskeleton. The encoded protein is highly expressed in neural tissues, and interacts with several proteins involved in cytoskeletal organization, including cell division control protein 42 (CDC42) and the actin-related protein-2/3 (ARP2/3) complex. The encoded protein may be involved in the formation of long actin microspikes, and in neurite extension. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in colon (RPKM 25.7), thyroid (RPKM 23.4) and 25 other tissues See more Orthologs mouse all
WASL-DT, Official Symbol WASL-DTprovided by HGNC Official Full Name WASL divergent transcriptprovided by HGNC Primary source HGNC:HGNC:54820 See related Ensembl:ENSG00000272686 AllianceGenome:HGNC:54820 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
WBP1, Official Symbol WBP1provided by HGNC Official Full Name WW domain binding protein 1provided by HGNC Primary source HGNC:HGNC:12737 See related Ensembl:ENSG00000239779 MIM:606961; AllianceGenome:HGNC:12737 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 WBP-1 Summary The globular WW domain, named for the conserved tryptophan residues in the protein motif present in various structural and regulatory proteins, is known to play a role in the mediation of protein-protein interactions. This gene encodes a ligand of the WW domain of the Yes kinase-associated protein. Readthrough transcription of the neighboring upstream gene, which encodes INO80 complex subunit B, into this gene generates a non-coding transcript. [provided by RefSeq, Feb 2011] Expression Ubiquitous expression in thyroid (RPKM 48.7), prostate (RPKM 45.8) and 25 other tissues See more Orthologs mouse all
WBP11, Official Symbol WBP11provided by HGNC Official Full Name WW domain binding protein 11provided by HGNC Primary source HGNC:HGNC:16461 See related Ensembl:ENSG00000084463 MIM:618083; AllianceGenome:HGNC:16461 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 BUG13; FAP90; NPWBP; SIPP1; VCTRL; CFAP90; VCTERL; WBP-11; PPP1R165 Summary This gene encodes a nuclear protein, which colocalizes with mRNA splicing factors and intermediate filament-containing perinuclear networks. This protein has 95% amino acid sequence identity to the mouse Wbp11 protein. It contains two proline-rich regions that bind to the WW domain of Npw38, a nuclear protein, and thus this protein is also called Npw38-binding protein NpwBP. The Npw38-NpwBP complex may function as a component of an mRNA factory in the nucleus. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 48.6), bone marrow (RPKM 38.2) and 25 other tissues See more Orthologs mouse all
WBP11P1, Official Symbol WBP11P1provided by HGNC Official Full Name WBP11 pseudogene 1provided by HGNC Primary source HGNC:HGNC:26250 See related Ensembl:ENSG00000260389 AllianceGenome:HGNC:26250 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 HsT3017
WBP11P3, Official Symbol WBP11P3provided by HGNC Official Full Name WBP11 pseudogene 3provided by HGNC Primary source HGNC:HGNC:54789 See related AllianceGenome:HGNC:54789 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
WBP1L, Official Symbol WBP1Lprovided by HGNC Official Full Name WW domain binding protein 1 likeprovided by HGNC Primary source HGNC:HGNC:23510 See related Ensembl:ENSG00000166272 MIM:611129; AllianceGenome:HGNC:23510 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 OPA1L; OPAL1; C10orf26 Summary Predicted to enable ubiquitin protein ligase binding activity. Predicted to act upstream of or within CXCL12-activated CXCR4 signaling pathway; hemopoiesis; and positive regulation of protein ubiquitination. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 20.1), adrenal (RPKM 15.0) and 25 other tissues See more Orthologs mouse all
WBP1LP1, Official Symbol WBP1LP1provided by HGNC Official Full Name WBP1L pseudogene 1provided by HGNC Primary source HGNC:HGNC:43948 See related Ensembl:ENSG00000243661 AllianceGenome:HGNC:43948 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
WBP1LP5, Official Symbol WBP1LP5provided by HGNC Official Full Name WBP1L pseudogene 5provided by HGNC Primary source HGNC:HGNC:43957 See related Ensembl:ENSG00000259454 AllianceGenome:HGNC:43957 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
WBP1P2, Official Symbol WBP1P2provided by HGNC Official Full Name WBP1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:54568 See related AllianceGenome:HGNC:54568 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
WBP2, Official Symbol WBP2provided by HGNC Official Full Name WW domain binding protein 2provided by HGNC Primary source HGNC:HGNC:12738 See related Ensembl:ENSG00000132471 MIM:606962; AllianceGenome:HGNC:12738 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 WBP-2; GRAMD6; DFNB107 Summary The globular WW domain is composed of 38 to 40 semiconserved amino acids shared by proteins of diverse functions including structural, regulatory, and signaling proteins. The domain is involved in mediating protein-protein interactions through the binding of polyproline ligands. This gene encodes a WW domain binding protein that is a transcriptional coactivator of estrogen receptor alpha and progesterone receptor. Defects in this gene have been associated with hearing impairment. [provided by RefSeq, Jan 2017] Expression Ubiquitous expression in brain (RPKM 118.9), adrenal (RPKM 61.3) and 25 other tissues See more Orthologs mouse all
WBP2NL, Official Symbol WBP2NLprovided by HGNC Official Full Name WBP2 N-terminal likeprovided by HGNC Primary source HGNC:HGNC:28389 See related Ensembl:ENSG00000183066 MIM:610981; AllianceGenome:HGNC:28389 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 PAWP; GRAMD7 Summary WBP2NL is a sperm-specific WW domain-binding protein that promotes meiotic resumption and pronuclear development during oocyte fertilization (Wu et al., 2007 [PubMed 17289678]).[supplied by OMIM, Mar 2008] Expression Biased expression in testis (RPKM 7.0) and thyroid (RPKM 0.3) See more Orthologs mouse all
WBP2P1, Official Symbol WBP2P1provided by HGNC Official Full Name WW domain binding protein 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:31695 See related Ensembl:ENSG00000229248 AllianceGenome:HGNC:31695 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
WBP4, Official Symbol WBP4provided by HGNC Official Full Name WW domain binding protein 4provided by HGNC Primary source HGNC:HGNC:12739 See related Ensembl:ENSG00000120688 MIM:604981; AllianceGenome:HGNC:12739 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 FBP21 Summary This gene encodes WW domain-containing binding protein 4. The WW domain represents a small and compact globular structure that interacts with proline-rich ligands. This encoded protein is a general spliceosomal protein that may play a role in cross-intron bridging of U1 and U2 snRNPs in the spliceosomal complex A. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 9.7), fat (RPKM 9.6) and 25 other tissues See more Orthologs mouse all
WDCP, Official Symbol WDCPprovided by HGNC Official Full Name WD repeat and coiled coil containingprovided by HGNC Primary source HGNC:HGNC:26157 See related Ensembl:ENSG00000163026 MIM:616234; AllianceGenome:HGNC:26157 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 MMAP; PP384; C2orf44 Summary Enables kinase binding activity. Involved in protein complex oligomerization. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 3.8), lymph node (RPKM 3.7) and 25 other tissues See more Orthologs mouse all
WDFY1, Official Symbol WDFY1provided by HGNC Official Full Name WD repeat and FYVE domain containing 1provided by HGNC Primary source HGNC:HGNC:20451 See related Ensembl:ENSG00000085449 MIM:618080; AllianceGenome:HGNC:20451 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 WDF1; FENS1; FENS-1; ZFYVE17 Summary The protein encoded by this gene is a phosphatidylinositol 3-phosphate binding protein, which contains a FYVE zinc finger domain and multiple WD-40 repeat domains. When exogenously expressed, it localizes to early endosomes. Mutagenesis analysis demonstrates that this endosomal localization is mediated by the FYVE domain. [provided by RefSeq, Jan 2015] Expression Ubiquitous expression in bone marrow (RPKM 20.9), thyroid (RPKM 16.4) and 25 other tissues See more Orthologs mouse all
WDFY2, Official Symbol WDFY2provided by HGNC Official Full Name WD repeat and FYVE domain containing 2provided by HGNC Primary source HGNC:HGNC:20482 See related Ensembl:ENSG00000139668 MIM:610418; AllianceGenome:HGNC:20482 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 PROF; WDF2; ZFYVE22 Summary This gene encodes a protein that contains two WD domains and an FYVE zinc finger region. The function of this gene is unknown. An alternatively spliced transcript variant of this gene may exist. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in skin (RPKM 5.8), bone marrow (RPKM 4.0) and 25 other tissues See more Orthologs mouse all
WDFY3, Official Symbol WDFY3provided by HGNC Official Full Name WD repeat and FYVE domain containing 3provided by HGNC Primary source HGNC:HGNC:20751 See related Ensembl:ENSG00000163625 MIM:617485; AllianceGenome:HGNC:20751 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 ALFY; BCHS; MCPH18; ZFYVE25 Summary This gene encodes a phosphatidylinositol 3-phosphate-binding protein that functions as a master conductor for aggregate clearance by autophagy. This protein shuttles from the nuclear membrane to colocalize with aggregated proteins, where it complexes with other autophagic components to achieve macroautophagy-mediated clearance of these aggregated proteins. However, it is not necessary for starvation-induced macroautophagy. [provided by RefSeq, May 2010] Expression Ubiquitous expression in kidney (RPKM 8.6), brain (RPKM 8.1) and 25 other tissues See more Orthologs mouse all
WDFY3-AS1, Official Symbol WDFY3-AS1provided by HGNC Official Full Name WDFY3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40935 See related Ensembl:ENSG00000251260 AllianceGenome:HGNC:40935 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
WDFY3-AS2, Official Symbol WDFY3-AS2provided by HGNC Official Full Name WDFY3 antisense RNA 2provided by HGNC Primary source HGNC:HGNC:21603 See related Ensembl:ENSG00000180769 AllianceGenome:HGNC:21603 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 FBI4; C4orf12; NCRNA00247 Expression Broad expression in kidney (RPKM 6.9), brain (RPKM 4.7) and 17 other tissues See more
WDFY4, Official Symbol WDFY4provided by HGNC Official Full Name WDFY family member 4provided by HGNC Primary source HGNC:HGNC:29323 See related Ensembl:ENSG00000128815 MIM:613316; AllianceGenome:HGNC:29323 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 C10orf64 Summary Predicted to be involved in autophagy. Predicted to act upstream of or within with a positive effect on CD8-positive, alpha-beta T cell activation. Predicted to act upstream of or within antigen processing and presentation and cellular response to virus. Predicted to be located in early endosome and endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in lymph node (RPKM 13.1), spleen (RPKM 9.3) and 10 other tissues See more Orthologs mouse all
WDHD1, Official Symbol WDHD1provided by HGNC Official Full Name WD repeat and HMG-box DNA binding protein 1provided by HGNC Primary source HGNC:HGNC:23170 See related Ensembl:ENSG00000198554 MIM:608126; AllianceGenome:HGNC:23170 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 AND1; CTF4; AND-1; CHTF4 Summary The protein encoded by this gene contains multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins and may function as adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 3.1), lymph node (RPKM 2.6) and 23 other tissues See more Orthologs mouse all
WDPCP, Official Symbol WDPCPprovided by HGNC Official Full Name WD repeat containing planar cell polarity effectorprovided by HGNC Primary source HGNC:HGNC:28027 See related Ensembl:ENSG00000143951 MIM:613580; AllianceGenome:HGNC:28027 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 FRTZ; BBS15; FRITZ; CHDTHP; C2orf86; CPLANE5 Summary This gene encodes a cytoplasmic WD40 repeat protein. A similar gene in frogs encodes a planar cell polarity protein that plays a critical role in collective cell movement and ciliogenesis by mediating septin localization. Mutations in this gene are associated with Bardet-Biedl syndrome 15 and may also play a role in Meckel-Gruber syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] Expression Low expression observed in reference dataset See more Orthologs mouse all
WDR1, Official Symbol WDR1provided by HGNC Official Full Name WD repeat domain 1provided by HGNC Primary source HGNC:HGNC:12754 See related Ensembl:ENSG00000071127 MIM:604734; AllianceGenome:HGNC:12754 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; PFITS; NORI-1; HEL-S-52 Summary This gene encodes a protein containing 9 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, mostly including a trp-asp at the C-terminal end. WD domains are involved in protein-protein interactions. The encoded protein may help induce the disassembly of actin filaments. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in appendix (RPKM 87.7), endometrium (RPKM 81.4) and 25 other tissues See more Orthologs mouse all
WDR11, Official Symbol WDR11provided by HGNC Official Full Name WD repeat domain 11provided by HGNC Primary source HGNC:HGNC:13831 See related Ensembl:ENSG00000120008 MIM:606417; AllianceGenome:HGNC:13831 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 DR11; HH14; SRI1; BRWD2; WDR15 Summary This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is located in the chromosome 10q25-26 region, which is frequently deleted in gliomas and tumors of other tissues, and is disrupted by the t(10;19) translocation rearrangement in glioblastoma cells. The gene location suggests that it is a candidate gene for the tumor suppressor locus. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 17.7), appendix (RPKM 14.7) and 25 other tissues See more Orthologs mouse all
WDR12, Official Symbol WDR12provided by HGNC Official Full Name WD repeat domain 12provided by HGNC Primary source HGNC:HGNC:14098 See related Ensembl:ENSG00000138442 MIM:616620; AllianceGenome:HGNC:14098 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 YTM1 Summary This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein is highly similar to the mouse WD repeat domain 12 protein at the amino acid level. The protein encoded by this gene is a component of a nucleolar protein complex that affects maturation of the large ribosomal subunit.[provided by RefSeq, Dec 2008] Expression Ubiquitous expression in testis (RPKM 5.2), kidney (RPKM 3.9) and 25 other tissues See more Orthologs mouse all
WDR13, Official Symbol WDR13provided by HGNC Official Full Name WD repeat domain 13provided by HGNC Primary source HGNC:HGNC:14352 See related Ensembl:ENSG00000101940 MIM:300512; AllianceGenome:HGNC:14352 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 MG21 Summary This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by Gly-His and Trp-Asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. A similar protein in mouse is thought to be a negative regulator of the pancreatic beta cell proliferation. Mice lacking this gene exhibit increased pancreatic islet mass and higher serum insulin levels, and are mildly obese. [provided by RefSeq, Nov 2016] Expression Ubiquitous expression in ovary (RPKM 22.5), kidney (RPKM 22.5) and 25 other tissues See more Orthologs mouse all