WASHC2C (original) (raw)

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Protein-coding gene in the species Homo sapiens

WASHC2C
Identifiers
Aliases	WASHC2C, FAM21A, VPEF, FAM21C, family with sequence similarity 21 member C, WASH complex subunit 2C
External IDs	OMIM: 613631; MGI: 106463; HomoloGene: 41686; GeneCards: WASHC2C; OMA:WASHC2C - orthologs
Gene location (Human)Chr.Chromosome 10 (human)[1]Band10q11.22Start45,727,200 bp[1]End45,792,961 bp[1]
Gene location (Mouse)Chr.Chromosome 6 (mouse)[2]Band6 E3|6 53.76 cMStart116,184,999 bp[2]End116,239,647 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed insural nervemonocyteAchilles tendontransverse colonrectumright hemisphere of cerebellumendometriumlymph nodegranulocytespleenTop expressed incerebellar vermislobe of cerebelluminternal carotid arteryexternal carotid arteryPaneth cellsubstantia nigrafossaendothelial cell of lymphatic vesselmotor neuronmedullary collecting ductMore reference expression dataBioGPSn/a
Gene ontologyMolecular function phosphatidylinositol-3-phosphate binding phosphatidylinositol-3,5-bisphosphate binding phosphatidylinositol-3,4-bisphosphate binding phosphatidylinositol-4-phosphate binding phosphatidylinositol-5-phosphate binding protein binding phosphatidylinositol-4,5-bisphosphate binding phosphatidylinositol-3,4,5-trisphosphate binding lipid binding retromer complex binding Cellular component early endosome membrane intracellular membrane-bounded organelle membrane plasma membrane retromer complex early endosome nucleolus endosome WASH complex cytosol Biological process negative regulation of barbed-end actin filament capping retrograde transport, endosome to Golgi protein transport regulation of substrate adhesion-dependent cell spreading protein localization to endosome Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez25372528006EnsemblENSG00000172661ENSMUSG00000024104UniProtQ9Y4E1Q6PGL7RefSeq (mRNA)NM_001169106NM_001169107NM_015262NM_001330074NM_026585RefSeq (protein)NP_001162577NP_001162578NP_001317003NP_056077NP_001354322NP_001354323NP_001354324NP_001354325NP_001354326NP_001354327NP_001354328NP_001354329NP_001354330NP_001354331NP_001354332NP_001354333NP_001354334NP_001354335NP_001354336NP_001354337NP_001354338NP_001354339NP_001354340NP_001354341NP_001354342NP_001354343NP_001354344NP_001354345NP_080861Location (UCSC)Chr 10: 45.73 – 45.79 MbChr 6: 116.18 – 116.24 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

WASH complex subunit 2C is a protein that in humans is encoded by the WASHC2C gene.[5] WASHC2C, also known as WASHCAP, VPEF, FAM21A, or FAM21C, is expressed ubiquitously.[6] WASHC2C is intracellular and is mainly in the cytosol associated with vesicles.[6] The protein has a low immune cell, human brain regional, and a low tissue specificity.[7] Some diseases that the protein are associated with are Vaccinia and Transient Tic Disorder.[8]

Function of WASHC2C

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WASHC2C is part of the WASH core complex where it functions as a nucleation-promoting factor (NPF) at the surface of endosomes. Here it recruits and activates the Arp 2/3 complex to induce actin polymerization. Actin polymerization plays a key role in the fission of tubules that serve as transport intermediates during endosome sorting.[7] WASHC2C also mediates the recruitment of F-actin-capping protein dimer to the complex as well as the recruitment of the core complex to endosome membranes via binding to phospholipids. The strongest phospholipid bonding the protein does is with phosphatidylinositol 4-phosphate, phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 5-phosphate.[7] GLUT1 5 is a protein that is recycled via the process of endosome-to-plasma membrane trafficking that WASHC2C plays an important role in .[7] The protein is also required for the endosomal recruitment of CCC, a multi-subunit protein complex, and other subunits such as COMMD1, VPS35L and CCDC93.[9] WASHC2C is involved in several other processes, negative regulation of barned-end actin filament capping, fluid base endocytosis endosomal transport, and regulation of substrate adhesion-dependent cell spreading.[9]

The WASHC2C gene size is about 1320 amino acids with a molecular mass of 144911 daltons (Da) or 144.911 kilodaltons (kDa). The protein has a quaternary structure[10] and a basal isoelectric point of 4.66.[11]

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000172661 – Ensembl, May 2017
2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024104 – Ensembl, May 2017
3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ "Entrez Gene: FAM21C family with sequence similarity 21, member C".
6. ^ a b "WASHC2C WASH complex subunit 2C [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-05-09.
7. ^ a b c d "WASHC2C protein expression summary - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2022-05-09.
8. ^ "WASHC2C Gene - GeneCards | WAC2C Protein | WAC2C Antibody". www.genecards.org. Retrieved 2022-05-09.
9. ^ a b Phillips-Krawczak, Christine A.; Singla, Amika; Starokadomskyy, Petro; Deng, Zhihui; Osborne, Douglas G.; Li, Haiying; Dick, Christopher J.; Gomez, Timothy S.; Koenecke, Megan; Zhang, Jin-San; Dai, Haiming (2015-01-01). "COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A". Molecular Biology of the Cell. 26 (1): 91–103. doi:10.1091/mbc.E14-06-1073. ISSN 1939-4586. PMC 4279232. PMID 25355947.
10. ^ "WASHC2C Gene - GeneCards | WAC2C Protein | WAC2C Antibody". www.genecards.org. Retrieved 2022-05-09.
11. ^ "WASHC2C (human)". www.phosphosite.org. Retrieved 2022-05-09.

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• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.