WASF1 WAS protein family, member 1 [Homo sapiens] - Gene

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Summary

Official Symbol: WASF1provided by HGNC
Official Full Name: WAS protein family, member 1provided by HGNC
Primary source: HGNC:12732
Locus tag: RP11-181P4.1
See related: Ensembl:ENSG00000112290; HPRD:05434; MIM:605035; Vega:OTTHUMG00000015357
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: WAVE; SCAR1; WAVE1; FLJ31482; KIAA0269
Summary: 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. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 6q21

Sequence :: Chromosome: 6; NC_000006.11 (110421022..110501207, complement)

See WASF1 in Epigenomics, MapViewer

Chromosome 6 - NC_000006.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

mDia1 and WAVE2 are important Src homology 3 domain partners of IRSp53 in forming filopodia.
Title: mDia1 and WAVE2 proteins interact directly with IRSp53 in filopodia and are involved in filopodium formation.
Arf GTPases may be central components in WAVE signalling, acting directly, alongside Rac1.
Title: WAVE regulatory complex activation by cooperating GTPases Arf and Rac1.
WAVE1 might be involved in the migration and invasion of K562 cells through regulation of the expression level of MMP-2.
Title: [Role of WAVE1 in K562 leukemia cells invasion and its mechanism].
Higher levels of WAVE1 in the bone marrow indicate an unfavorable prognosis in children with AML.
Title: [Interaction of WAVE1 and genes involved in multiple drug resistance in children with acute myeloblastic leukemia].
Dock3 induces axonal outgrowth by stimulating membrane recruitment of the WAVE complex
Title: Dock3 induces axonal outgrowth by stimulating membrane recruitment of the WAVE complex.
CIP4 is a new ArgBP2 interacting protein that modulates the ArgBP2 mediated control of WAVE1 phosphorylation and cancer cell migration.
Title: CIP4 is a new ArgBP2 interacting protein that modulates the ArgBP2 mediated control of WAVE1 phosphorylation and cancer cell migration.
WAVE1 regulates Bcl-2 localization and phosphorylation in leukemia cells.
Title: WAVE1 regulates Bcl-2 localization and phosphorylation in leukemia cells.
WAVE1 is involved in multi-drug resistance through regulation the level of mdrl and Bcl-2.
Title: [Role of WAVE1 in drug resistance of K562/A02 leukemia cells].
WAVE accumulation may be involved in Abeta/amyloid precursor protein mediated-tangle modification
Title: Involvement of WAVE accumulation in Abeta/APP pathology-dependent tangle modification in Alzheimer's disease.
WAVE1 and p22phox expression in PBMCs increased and was associated with the disease course in children with acute lymphocytic leukemia (ALL).
Title: [Expression of WAVE1 and p22phox in children with acute lymphocytic leukemia and the relationship of WAVE1 with oxidative stress].

Submit: New GeneRIF Correction See all (23)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_003922.1	NP_009297.1	ABL1	BIND	PubMed	WAVE-1 interacts with Abl.
NP_003922.1	NP_001605.1	ACTG1	BIND	PubMed	WAVE-1 interacts with G-actin. This interaction was modeled on a demonstrated interaction between human WAVE-1 and rat G-actin.
NP_003922.1	NP_004148.1	PRKAR2A	BIND	PubMed	WAVE-1 interacts with PKA.
NP_003922.1	NP_055665.1	SRGAP3	BIND	PubMed	WAVE1 interacts with WRP. This interaction was modeled on a demonstrated interaction between WAVE-1 from rat and an unspecified sources and WRP from rat, human and an unspecified sources.
NP_003922.1			BIND	PubMed	Arp2/3 interacts with Scar.
Q92558	Q8IZP0	ABI1	HPRD	PubMed
Q92558	P00519	ABL1	HPRD	PubMed
Q92558	P60709	ACTB	HPRD	PubMed
Q92558	P63261	ACTG1	HPRD	PubMed
Q92558	P61160	ACTR2	HPRD	PubMed
Q92558	Q92934	BAD	HPRD	PubMed
Q92558	C3orf10 protein	BRK1	HPRD	PubMed
Q92558	P60953	CDC42	HPRD	PubMed
Q92558	Q00535	CDK5	HPRD	PubMed
Q92558	P46108	CRK	HPRD	PubMed
Q92558	Q96F07	CYFIP2	HPRD	PubMed
Q92558	Q6XZF7	DNMBP	HPRD	PubMed
Q92558	P06241	FYN	HPRD	PubMed
Q92558	P63096	GNAI1	HPRD	PubMed
Q92558	P62993	GRB2	HPRD	PubMed
Q92558	P29459	IL12A	HPRD	PubMed
Q92558	P10145	IL8	HPRD	PubMed
Q92558	P14598	NCF1	HPRD	PubMed
Q92558	P16333	NCK1	HPRD	PubMed
Q92558	Q9Y2A7	NCKAP1	HPRD	PubMed
Q92558	P07737	PFN1	HPRD	PubMed
Q92558	P13861	PRKAR2A	HPRD	PubMed
Q92558	O43586	PSTPIP1	HPRD	PubMed
Q92558	P63000	RAC1	HPRD	PubMed
Q92558	O43295	SRGAP3	HPRD	PubMed
BioGRID:114449	BioGRID:114618	ARHGEF2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:114449	BioGRID:27562	ARPC3	BioGRID	PubMed	Two-hybrid
BioGRID:114449	BioGRID:115721	BAIAP2	BioGRID	PubMed	Far Western; Reconstituted Complex; Two-hybrid
BioGRID:114449	BioGRID:116869	DNMBP	BioGRID	PubMed	Affinity Capture-MS
BioGRID:114449	BioGRID:111237	PFN1	BioGRID	PubMed	Affinity Capture-Western; Far Western
BioGRID:114449	BioGRID:112171	RYK	BioGRID	PubMed	Affinity Capture-MS
BioGRID:114449	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
actin binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
actin filament polymerization	TAS Traceable Author Statement more info	PubMed
cellular component movement	TAS Traceable Author Statement more info	PubMed
protein complex assembly	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
actin cytoskeleton	TAS Traceable Author Statement more info	PubMed
cytoplasm	IEA Inferred from Electronic Annotation more info
cytoskeleton	TAS Traceable Author Statement more info	PubMed
lamellipodium	IEA Inferred from Electronic Annotation more info
mitochondrial outer membrane	IEA Inferred from Electronic Annotation more info
mitochondrion	IDA Inferred from Direct Assay more info	PubMed
mitochondrion	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: wiskott-Aldrich syndrome protein family member 1

Names: wiskott-Aldrich syndrome protein family member 1; protein WAVE-1; WASP family protein member 1; homology of dictyostelium scar 1; verprolin homology domain-containing protein 1

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001024934.1 → NP_001020105.1 wiskott-Aldrich syndrome protein family member 1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the 5' UTR, as compared to variant 1. Variants 1-4 encode the same protein.

Source sequence(s)

AI928895, BC044591, BC068546, BG719023, BI461486

Consensus CDS

CCDS5080.1

UniProtKB/Swiss-Prot

Q92558

Related

ENSP00000376367, ENST00000392588

Conserved Domains (1) summary

smart00246
Location:497 – 514
Blast Score: 88

WH2; Wiskott Aldrich syndrome homology region 2
NM_001024935.1 → NP_001020106.1 wiskott-Aldrich syndrome protein family member 1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an exon in the 5' UTR, as compared to variant 1. Variants 1-4 encode the same protein.

Source sequence(s)

AI928895, BC044591, BG719023

Consensus CDS

CCDS5080.1

UniProtKB/Swiss-Prot

Q92558

Related

ENSP00000352425, ENST00000359451

Conserved Domains (1) summary

smart00246
Location:497 – 514
Blast Score: 88

WH2; Wiskott Aldrich syndrome homology region 2
NM_001024936.1 → NP_001020107.1 wiskott-Aldrich syndrome protein family member 1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks two exons in the 5' UTR, as compared to variant 1. Variants 1-4 encode the same protein.

Source sequence(s)

AI928895, BC044591, BC068546, BG719023

Consensus CDS

CCDS5080.1

UniProtKB/Swiss-Prot

Q92558

Related

ENSP00000376366, OTTHUMP00000016992, ENST00000392587, OTTHUMT00000041786

Conserved Domains (1) summary

smart00246
Location:497 – 514
Blast Score: 88

WH2; Wiskott Aldrich syndrome homology region 2
NM_003931.2 → NP_003922.1 wiskott-Aldrich syndrome protein family member 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript.

Source sequence(s)

AI928895, BG719023, BI461486, D87459

Consensus CDS

CCDS5080.1

UniProtKB/Swiss-Prot

Q92558

Related

ENSP00000376368, ENST00000392589

Conserved Domains (1) summary

smart00246
Location:497 – 514
Blast Score: 88

WH2; Wiskott Aldrich syndrome homology region 2

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000006.11 Reference GRCh37.p5 Primary Assembly

Range

110421022..110501207, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000138.1 Alternate HuRef

Range

107987658..108067845, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL590009.10	CAI12485.1
		CAI12487.1
		CAI12488.1
		CAI12489.1
genomic	AL590549.9 (2000..24660)	None
genomic	AL671518.3 (2000..7829)	None
genomic	CH471051.2	EAW48325.1
		EAW48326.1
		EAW48327.1
		EAW48328.1
		EAW48329.1
		EAW48330.1
mRNA	AF134303.1	AAD33052.1
mRNA	AI928895.1	None
mRNA	AK097838.1	None
mRNA	BC044591.1	AAH44591.1
mRNA	BC068546.1	None
mRNA	BG719023.1	None
mRNA	BI461486.1	None
mRNA	D87459.1	BAA13399.2

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q5SZK3	GenPept	UniProtKB/TrEMBL:Q5SZK3
Q5SZK4	GenPept	UniProtKB/TrEMBL:Q5SZK4
Q5SZK5	GenPept	UniProtKB/TrEMBL:Q5SZK5
Q92558.1	GenPept	UniProtKB/Swiss-Prot:Q92558