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{{Infobox_gene}}
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'''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]].<ref name="pmid9843499">{{cite journal | vauthors = Miki H, Suetsugu S, Takenawa T | title = WAVE, a novel WASP-family protein involved in actin reorganization induced by Rac | journal = EMBO J | volume = 17 | issue = 23 | pages = 6932–41 |date=February 1999 | pmid = 9843499 | pmc = 1171041 | doi = 10.1093/emboj/17.23.6932 }}</ref><ref name="pmid9889097">{{cite journal | vauthors = Machesky LM, Insall RH | title = Scar1 and the related Wiskott-Aldrich syndrome protein, WASP, regulate the actin cytoskeleton through the Arp2/3 complex | journal = Curr Biol | volume = 8 | issue = 25 | pages = 1347–56 |date=March 1999 | pmid = 9889097 | pmc =  | doi =10.1016/S0960-9822(98)00015-3  }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: WASF1 WAS protein family, member 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8936| accessdate = }}</ref>
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| require_manual_inspection = no
| update_protein_box = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = WAS protein family, member 1
| HGNCid = 12732
| Symbol = WASF1
| AltSymbols =; FLJ31482; KIAA0269; SCAR1; WAVE; WAVE1
| OMIM = 605035
| ECnumber = 
| Homologene = 2920
| MGIid = 1890563
| GeneAtlas_image1 = PBB_GE_WASF1_204165_at_tn.png
| Function = {{GNF_GO|id=GO:0003779 |text = actin binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005739 |text = mitochondrion}} {{GNF_GO|id=GO:0005741 |text = mitochondrial outer membrane}} {{GNF_GO|id=GO:0015629 |text = actin cytoskeleton}} {{GNF_GO|id=GO:0030027 |text = lamellipodium}}
| Process = {{GNF_GO|id=GO:0006461 |text = protein complex assembly}} {{GNF_GO|id=GO:0006928 |text = cell motility}} {{GNF_GO|id=GO:0030041 |text = actin filament polymerization}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 8936
    | Hs_Ensembl = ENSG00000112290
    | Hs_RefseqProtein = NP_001020105
    | Hs_RefseqmRNA = NM_001024934
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 6
    | Hs_GenLoc_start = 110528382
    | Hs_GenLoc_end = 110607819
    | Hs_Uniprot = Q92558
    | Mm_EntrezGene = 83767
    | Mm_Ensembl = ENSMUSG00000019831
    | Mm_RefseqmRNA = NM_031877
    | Mm_RefseqProtein = NP_114083
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 10
    | Mm_GenLoc_start = 40571988
    | Mm_GenLoc_end = 40626982
    | Mm_Uniprot = Q8R5H6
  }}
}}
'''WAS protein family, member 1''', also known as '''WASF1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: WASF1 WAS protein family, member 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8936| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
The protein encoded by this gene, a member of the Wiskott-Aldrich syndrome protein (WASP) family, plays a critical role downstream of [[Rac (GTPase)|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.
{{PBB_Summary
 
| section_title =
== Clinical significance ==
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: WASF1 WAS protein family, member 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8936| accessdate = }}</ref>
 
}}
[[Wiskott-Aldrich syndrome]] is a [[Immune system diseases|disease of the immune system]], likely due to defects in regulation of [[actin]] [[cytoskeleton]].<ref name="entrez"/>
 
==Interactions==
WASF1 has been shown to [[Protein-protein interaction|interact]] with [[BAIAP2]]<ref name="pmid11130076">{{cite journal | vauthors = Miki H, Yamaguchi H, Suetsugu S, Takenawa T | title = IRSp53 is an essential intermediate between Rac and WAVE in the regulation of membrane ruffling | journal = Nature | volume = 408 | issue = 6813 | pages = 732–5 |date=December 2000 | pmid = 11130076 | doi = 10.1038/35047107 }}</ref> and [[Profilin 1]].<ref name="pmid9843499"/>


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
*{{cite journal  | vauthors=Sloane JA, Vartanian TK |title=WAVE1 and regulation of actin nucleation in myelination. |journal=The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry |volume=13 |issue= 5 |pages= 486–91 |year= 2007 |pmid= 17901257 |doi= 10.1177/1073858407299423 }}
| citations =
*{{cite journal  | vauthors=Whitebread S, Mele M, Kamber B, de Gasparo M |title=Preliminary biochemical characterization of two angiotensin II receptor subtypes. |journal=Biochem. Biophys. Res. Commun. |volume=163 |issue= 1 |pages= 284–91 |year= 1989 |pmid= 2775266 |doi=10.1016/0006-291X(89)92133-5 }}
*{{cite journal  | author=Sloane JA, Vartanian TK |title=WAVE1 and regulation of actin nucleation in myelination. |journal=The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry |volume=13 |issue= 5 |pages= 486-91 |year= 2007 |pmid= 17901257 |doi= 10.1177/1073858407299423 }}
*{{cite journal   |vauthors=Kitamura T, Kitamura Y, Yonezawa K, etal |title=Molecular cloning of p125Nap1, a protein that associates with an SH3 domain of Nck. |journal=Biochem. Biophys. Res. Commun. |volume=219 |issue= 2 |pages= 509–14 |year= 1996 |pmid= 8605018 |doi=10.1006/bbrc.1996.0264  }}
*{{cite journal  | author=Whitebread S, Mele M, Kamber B, de Gasparo M |title=Preliminary biochemical characterization of two angiotensin II receptor subtypes. |journal=Biochem. Biophys. Res. Commun. |volume=163 |issue= 1 |pages= 284-91 |year= 1989 |pmid= 2775266 |doi=  }}
*{{cite journal   |vauthors=Nagase T, Seki N, Ishikawa K, etal |title=Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. |journal=DNA Res. |volume=3 |issue= 5 |pages= 321–9, 341–54 |year= 1997 |pmid= 9039502 |doi=10.1093/dnares/3.5.321  }}
*{{cite journal | author=Kitamura T, Kitamura Y, Yonezawa K, ''et al.'' |title=Molecular cloning of p125Nap1, a protein that associates with an SH3 domain of Nck. |journal=Biochem. Biophys. Res. Commun. |volume=219 |issue= 2 |pages= 509-14 |year= 1996 |pmid= 8605018 |doi= }}
*{{cite journal   |vauthors=She HY, Rockow S, Tang J, etal |title=Wiskott-Aldrich syndrome protein is associated with the adapter protein Grb2 and the epidermal growth factor receptor in living cells. |journal=Mol. Biol. Cell |volume=8 |issue= 9 |pages= 1709–21 |year= 1997 |pmid= 9307968 |doi=  10.1091/mbc.8.9.1709| pmc=305731  }}
*{{cite journal | author=Nagase T, Seki N, Ishikawa K, ''et al.'' |title=Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. |journal=DNA Res. |volume=3 |issue= 5 |pages= 321-9, 341-54 |year= 1997 |pmid= 9039502 |doi= }}
*{{cite journal   |vauthors=Witke W, Podtelejnikov AV, Di Nardo A, etal |title=In mouse brain profilin I and profilin II associate with regulators of the endocytic pathway and actin assembly. |journal=EMBO J. |volume=17 |issue= 4 |pages= 967–76 |year= 1998 |pmid= 9463375 |doi= 10.1093/emboj/17.4.967 | pmc=1170446 }}
*{{cite journal | author=She HY, Rockow S, Tang J, ''et al.'' |title=Wiskott-Aldrich syndrome protein is associated with the adapter protein Grb2 and the epidermal growth factor receptor in living cells. |journal=Mol. Biol. Cell |volume=8 |issue= 9 |pages= 1709-21 |year= 1997 |pmid= 9307968 |doi=  }}
*{{cite journal  | vauthors=Bear JE, Rawls JF, Saxe CL |title=SCAR, a WASP-related protein, isolated as a suppressor of receptor defects in late Dictyostelium development. |journal=J. Cell Biol. |volume=142 |issue= 5 |pages= 1325–35 |year= 1998 |pmid= 9732292 |doi=10.1083/jcb.142.5.1325  | pmc=2149354 }}
*{{cite journal | author=Witke W, Podtelejnikov AV, Di Nardo A, ''et al.'' |title=In mouse brain profilin I and profilin II associate with regulators of the endocytic pathway and actin assembly. |journal=EMBO J. |volume=17 |issue= 4 |pages= 967-76 |year= 1998 |pmid= 9463375 |doi= 10.1093/emboj/17.4.967 }}
*{{cite journal  | vauthors=Wu Y, Dowbenko D, Lasky LA |title=PSTPIP 2, a second tyrosine phosphorylated, cytoskeletal-associated protein that binds a PEST-type protein-tyrosine phosphatase. |journal=J. Biol. Chem. |volume=273 |issue= 46 |pages= 30487–96 |year= 1998 |pmid= 9804817 |doi=10.1074/jbc.273.46.30487 }}
*{{cite journal  | author=Bear JE, Rawls JF, Saxe CL |title=SCAR, a WASP-related protein, isolated as a suppressor of receptor defects in late Dictyostelium development. |journal=J. Cell Biol. |volume=142 |issue= 5 |pages= 1325-35 |year= 1998 |pmid= 9732292 |doi=  }}
*{{cite journal  | vauthors=Suetsugu S, Miki H, Takenawa T |title=Identification of two human WAVE/SCAR homologues as general actin regulatory molecules which associate with the Arp2/3 complex. |journal=Biochem. Biophys. Res. Commun. |volume=260 |issue= 1 |pages= 296–302 |year= 1999 |pmid= 10381382 |doi= 10.1006/bbrc.1999.0894 }}
*{{cite journal  | author=Wu Y, Dowbenko D, Lasky LA |title=PSTPIP 2, a second tyrosine phosphorylated, cytoskeletal-associated protein that binds a PEST-type protein-tyrosine phosphatase. |journal=J. Biol. Chem. |volume=273 |issue= 46 |pages= 30487-96 |year= 1998 |pmid= 9804817 |doi=  }}
*{{cite journal  | vauthors=Banin S, Gout I, Brickell P |title=Interaction between Wiskott-Aldrich Syndrome protein (WASP) and the Fyn protein-tyrosine kinase. |journal=Mol. Biol. Rep. |volume=26 |issue= 3 |pages= 173–7 |year= 1999 |pmid= 10532312 |doi=10.1023/A:1006954206151 }}
*{{cite journal  | author=Miki H, Suetsugu S, Takenawa T |title=WAVE, a novel WASP-family protein involved in actin reorganization induced by Rac. |journal=EMBO J. |volume=17 |issue= 23 |pages= 6932-41 |year= 1999 |pmid= 9843499 |doi= 10.1093/emboj/17.23.6932 }}
*{{cite journal  | vauthors=Higgs HN, Blanchoin L, Pollard TD |title=Influence of the C terminus of Wiskott-Aldrich syndrome protein (WASp) and the Arp2/3 complex on actin polymerization. |journal=Biochemistry |volume=38 |issue= 46 |pages= 15212–22 |year= 1999 |pmid= 10563804 |doi=10.1021/bi991843  }}
*{{cite journal  | author=Machesky LM, Insall RH |title=Scar1 and the related Wiskott-Aldrich syndrome protein, WASP, regulate the actin cytoskeleton through the Arp2/3 complex. |journal=Curr. Biol. |volume=8 |issue= 25 |pages= 1347-56 |year= 1999 |pmid= 9889097 |doi=  }}
*{{cite journal   |vauthors=Westphal RS, Soderling SH, Alto NM, etal |title=Scar/WAVE-1, a Wiskott-Aldrich syndrome protein, assembles an actin-associated multi-kinase scaffold. |journal=EMBO J. |volume=19 |issue= 17 |pages= 4589–600 |year= 2000 |pmid= 10970852 |doi= 10.1093/emboj/19.17.4589  | pmc=302050 }}
*{{cite journal  | author=Suetsugu S, Miki H, Takenawa T |title=Identification of two human WAVE/SCAR homologues as general actin regulatory molecules which associate with the Arp2/3 complex. |journal=Biochem. Biophys. Res. Commun. |volume=260 |issue= 1 |pages= 296-302 |year= 1999 |pmid= 10381382 |doi= 10.1006/bbrc.1999.0894 }}
*{{cite journal  | vauthors=Prehoda KE, Scott JA, Mullins RD, Lim WA |title=Integration of multiple signals through cooperative regulation of the N-WASP-Arp2/3 complex. |journal=Science |volume=290 |issue= 5492 |pages= 801–6 |year= 2000 |pmid= 11052943 |doi=10.1126/science.290.5492.801 }}
*{{cite journal | author=Banin S, Gout I, Brickell P |title=Interaction between Wiskott-Aldrich Syndrome protein (WASP) and the Fyn protein-tyrosine kinase. |journal=Mol. Biol. Rep. |volume=26 |issue= 3 |pages= 173-7 |year= 1999 |pmid= 10532312 |doi= }}
*{{cite journal  | vauthors=Miki H, Yamaguchi H, Suetsugu S, Takenawa T |title=IRSp53 is an essential intermediate between Rac and WAVE in the regulation of membrane ruffling. |journal=Nature |volume=408 |issue= 6813 |pages= 732–5 |year= 2001 |pmid= 11130076 |doi= 10.1038/35047107 }}
*{{cite journal  | author=Higgs HN, Blanchoin L, Pollard TD |title=Influence of the C terminus of Wiskott-Aldrich syndrome protein (WASp) and the Arp2/3 complex on actin polymerization. |journal=Biochemistry |volume=38 |issue= 46 |pages= 15212-22 |year= 1999 |pmid= 10563804 |doi=  }}
*{{cite journal  | vauthors=Marchand JB, Kaiser DA, Pollard TD, Higgs HN |title=Interaction of WASP/Scar proteins with actin and vertebrate Arp2/3 complex. |journal=Nat. Cell Biol. |volume=3 |issue= 1 |pages= 76–82 |year= 2001 |pmid= 11146629 |doi= 10.1038/35050590 }}
*{{cite journal  | author=Westphal RS, Soderling SH, Alto NM, ''et al.'' |title=Scar/WAVE-1, a Wiskott-Aldrich syndrome protein, assembles an actin-associated multi-kinase scaffold. |journal=EMBO J. |volume=19 |issue= 17 |pages= 4589-600 |year= 2000 |pmid= 10970852 |doi= 10.1093/emboj/19.17.4589 }}
*{{cite journal   |vauthors=Eden S, Rohatgi R, Podtelejnikov AV, etal |title=Mechanism of regulation of WAVE1-induced actin nucleation by Rac1 and Nck. |journal=Nature |volume=418 |issue= 6899 |pages= 790–3 |year= 2002 |pmid= 12181570 |doi= 10.1038/nature00859 }}
*{{cite journal  | author=Prehoda KE, Scott JA, Mullins RD, Lim WA |title=Integration of multiple signals through cooperative regulation of the N-WASP-Arp2/3 complex. |journal=Science |volume=290 |issue= 5492 |pages= 801-6 |year= 2000 |pmid= 11052943 |doi= }}
*{{cite journal  | vauthors=Yarar D, D'Alessio JA, Jeng RL, Welch MD |title=Motility determinants in WASP family proteins. |journal=Mol. Biol. Cell |volume=13 |issue= 11 |pages= 4045–59 |year= 2003 |pmid= 12429845 |doi= 10.1091/mbc.E02-05-0294 | pmc=133613 }}
*{{cite journal | author=Miki H, Yamaguchi H, Suetsugu S, Takenawa T |title=IRSp53 is an essential intermediate between Rac and WAVE in the regulation of membrane ruffling. |journal=Nature |volume=408 |issue= 6813 |pages= 732-5 |year= 2001 |pmid= 11130076 |doi= 10.1038/35047107 }}
*{{cite journal   |vauthors=Soderling SH, Binns KL, Wayman GA, etal |title=The WRP component of the WAVE-1 complex attenuates Rac-mediated signalling. |journal=Nat. Cell Biol. |volume=4 |issue= 12 |pages= 970–5 |year= 2003 |pmid= 12447388 |doi= 10.1038/ncb886 }}
*{{cite journal  | author=Marchand JB, Kaiser DA, Pollard TD, Higgs HN |title=Interaction of WASP/Scar proteins with actin and vertebrate Arp2/3 complex. |journal=Nat. Cell Biol. |volume=3 |issue= 1 |pages= 76-82 |year= 2001 |pmid= 11146629 |doi= 10.1038/35050590 }}
*{{cite journal | author=Eden S, Rohatgi R, Podtelejnikov AV, ''et al.'' |title=Mechanism of regulation of WAVE1-induced actin nucleation by Rac1 and Nck. |journal=Nature |volume=418 |issue= 6899 |pages= 790-3 |year= 2002 |pmid= 12181570 |doi= 10.1038/nature00859 }}
*{{cite journal  | author=Yarar D, D'Alessio JA, Jeng RL, Welch MD |title=Motility determinants in WASP family proteins. |journal=Mol. Biol. Cell |volume=13 |issue= 11 |pages= 4045-59 |year= 2003 |pmid= 12429845 |doi= 10.1091/mbc.E02-05-0294 }}
*{{cite journal | author=Soderling SH, Binns KL, Wayman GA, ''et al.'' |title=The WRP component of the WAVE-1 complex attenuates Rac-mediated signalling. |journal=Nat. Cell Biol. |volume=4 |issue= 12 |pages= 970-5 |year= 2003 |pmid= 12447388 |doi= 10.1038/ncb886 }}
}}
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Latest revision as of 22:27, 17 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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.[1][2][3]

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.[3]

Interactions

WASF1 has been shown to interact with BAIAP2[4] and Profilin 1.[1]

References

  1. ↑ 1.0 1.1 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. doi:10.1093/emboj/17.23.6932. PMC 1171041. PMID 9843499.
  2. ↑ 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. doi:10.1016/S0960-9822(98)00015-3. PMID 9889097.
  3. ↑ 3.0 3.1 "Entrez Gene: WASF1 WAS protein family, member 1".
  4. ↑ 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. doi:10.1038/35047107. PMID 11130076.

Further reading


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