WASF1

WASF1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesWASF1, SCAR1, WAVE, WAVE1, WAS protein family member 1
External IDsMGI: 1890563 HomoloGene: 2920 GeneCards: WASF1
Gene location (Human)
Chr.Chromosome 6 (human)[1]
BandNo data availableStart110,099,819 bp[1]
End110,180,004 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

8936

83767

Ensembl

ENSG00000112290

ENSMUSG00000019831

UniProt

Q92558

Q8R5H6

RefSeq (mRNA)

NM_001024934
NM_001024935
NM_001024936
NM_003931

NM_031877

RefSeq (protein)

NP_001020105
NP_001020106
NP_001020107
NP_003922

NP_114083

Location (UCSC)Chr 6: 110.1 – 110.18 MbChr 6: 40.88 – 40.94 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Wiskott-Aldrich syndrome protein family member 1, also known as WASP-family verprolin homologous protein 1 (WAVE1), is a protein that in humans is encoded by the WASF1 gene.[5][6][7]

Function

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, through its involvement in the WAVE regulatory complex 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.

Clinical significance

Wiskott-Aldrich syndrome is a disease of the immune system, likely due to defects in regulation of actin cytoskeleton.[7]

Interactions

WASF1 has been shown to interact with BAIAP2[8] and Profilin 1.[5]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000112290 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000019831 - Ensembl, May 2017
  3. "Human PubMed Reference:".
  4. "Mouse PubMed Reference:".
  5. 1 2 Miki H, Suetsugu S, Takenawa T (February 1999). "WAVE, a novel WASP-family protein involved in actin reorganization induced by Rac". EMBO J. 17 (23): 6932–41. PMC 1171041Freely accessible. PMID 9843499. doi:10.1093/emboj/17.23.6932.
  6. Machesky LM, Insall RH (March 1999). "Scar1 and the related Wiskott-Aldrich syndrome protein, WASP, regulate the actin cytoskeleton through the Arp2/3 complex". Curr Biol. 8 (25): 1347–56. PMID 9889097. doi:10.1016/S0960-9822(98)00015-3.
  7. 1 2 "Entrez Gene: WASF1 WAS protein family, member 1".
  8. Miki H, Yamaguchi H, Suetsugu S, Takenawa T (December 2000). "IRSp53 is an essential intermediate between Rac and WAVE in the regulation of membrane ruffling". Nature. 408 (6813): 732–5. PMID 11130076. doi:10.1038/35047107.

Further reading


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