WASHC2C

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) Band 10q11.22 Start 45,727,200 bp End 45,792,961 bp
Gene location (Mouse) Chr. Chromosome 6 (mouse) Band 6 E3|6 53.76 cM Start 116,184,999 bp End 116,239,647 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve monocyte Achilles tendon transverse colon rectum right hemisphere of cerebellum endometrium lymph node granulocyte spleen Top expressed in cerebellar vermis lobe of cerebellum internal carotid artery external carotid artery Paneth cell substantia nigra fossa endothelial cell of lymphatic vessel motor neuron medullary collecting duct More reference expression data BioGPS n/a
Gene ontology Molecular 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
Orthologs Species Human Mouse Entrez 253725 28006 Ensembl ENSG00000172661 ENSMUSG00000024104 UniProt Q9Y4E1 Q6PGL7 RefSeq (mRNA) NM_001169106 NM_001169107 NM_015262 NM_001330074 NM_026585 RefSeq (protein) NP_001162577 NP_001162578 NP_001317003 NP_056077 NP_001354322 NP_001354323 NP_001354324 NP_001354325 NP_001354326 NP_001354327 NP_001354328 NP_001354329 NP_001354330 NP_001354331 NP_001354332 NP_001354333 NP_001354334 NP_001354335 NP_001354336 NP_001354337 NP_001354338 NP_001354339 NP_001354340 NP_001354341 NP_001354342 NP_001354343 NP_001354344 NP_001354345 NP_080861 Location (UCSC) Chr 10: 45.73 – 45.79 Mb Chr 6: 116.18 – 116.24 Mb PubMed search
Wikidata
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WASH complex subunit 2C is a protein that in humans is encoded by the WASHC2C gene. WASHC2C, also known as WASHCAP, VPEF, FAM21A, or FAM21C, is expressed ubiquitously. WASHC2C is intracellular and is mainly in the cytosol associated with vesicles. The protein has a low immune cell, human brain regional, and a low tissue specificity. Some diseases that the protein are associated with are Vaccinia and Transient Tic Disorder.

Function of WASHC2C

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. 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. GLUT1 5 is a protein that is recycled via the process of endosome-to-plasma membrane trafficking that WASHC2C plays an important role in . 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. 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.

Structure

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 and a basal isoelectric point of 4.66.

Further reading

• Nagase T, Ishikawa K, Miyajima N, et al. (1998). "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 5 (1): 31–9. doi:10.1093/dnares/5.1.31. PMID 9628581.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Brill LM, Salomon AR, Ficarro SB, et al. (2004). "Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry". Anal. Chem. 76 (10): 2763–72. doi:10.1021/ac035352d. PMID 15144186.
• Deloukas P, Earthrowl ME, Grafham DV, et al. (2004). "The DNA sequence and comparative analysis of human chromosome 10". Nature. 429 (6990): 375–81. Bibcode:2004Natur.429..375D. doi:10.1038/nature02462. PMID 15164054.
• Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569. S2CID 13709685.
• Beausoleil SA, Villén J, Gerber SA, et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nat. Biotechnol. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID 16964243. S2CID 14294292.
• 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.