WASHC2C

Protein-coding gene in the species Homo sapiens
WASHC2C
Identifiers
AliasesWASHC2C, FAM21A, VPEF, FAM21C, family with sequence similarity 21 member C, WASH complex subunit 2C
External IDsOMIM: 613631; MGI: 106463; HomoloGene: 41686; GeneCards: WASHC2C; OMA:WASHC2C - orthologs
Gene location (Human)
Chromosome 10 (human)
Chr.Chromosome 10 (human)[1]
Chromosome 10 (human)
Genomic location for WASHC2C
Genomic location for WASHC2C
Band10q11.22Start45,727,200 bp[1]
End45,792,961 bp[1]
Gene location (Mouse)
Chromosome 6 (mouse)
Chr.Chromosome 6 (mouse)[2]
Chromosome 6 (mouse)
Genomic location for WASHC2C
Genomic location for WASHC2C
Band6 E3|6 53.76 cMStart116,184,999 bp[2]
End116,239,647 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 6: 116.18 – 116.24 Mb
PubMed 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, expresses itself ubiquitously in bone marrow and thyroid tissues mainly as well as 25 other tissues.[6] WASHC2C is intracellular and is mainly in the nucleoli, vesicles, and cytosol.[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

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]

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[10] and a basal isoelectric point of 4.66.[11]

References

  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.

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.


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