WASF1 WASP family member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: WASF1provided by HGNC
Official Full Name: WASP family member 1provided by HGNC
Primary source: HGNC:HGNC:12732
See related: Ensembl:ENSG00000112290 MIM:605035; AllianceGenome:HGNC:12732
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; NEDALVS
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]
Expression: Biased expression in brain (RPKM 38.3), testis (RPKM 35.2) and 8 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 6q21

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (110099819..110179670, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (111278252..111358111, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (110421022..110500873, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LncRNA PVT1 promotes the malignant progression of acute myeloid leukaemia via sponging miR-29 family to increase WAVE1 expression.
Title: LncRNA PVT1 promotes the malignant progression of acute myeloid leukaemia via sponging miR-29 family to increase WAVE1 expression.
WAVE1 and WAVE2 have distinct and overlapping roles in controlling actin assembly at the leading edge.
Title: WAVE1 and WAVE2 have distinct and overlapping roles in controlling actin assembly at the leading edge.
Adherens junction regulates cryptic lamellipodia formation for epithelial cell migration.
Title: Adherens junction regulates cryptic lamellipodia formation for epithelial cell migration.
WAVE complex is required for neutrophil polarity and motility.
Title: Cell confinement reveals a branched-actin independent circuit for neutrophil polarity.
YAP was associated with cell migration in oral squamous cell carcinoma, and this process was regulated by YAP/WAVE1.
Title: Yes-associated protein promotes cell migration via activating Wiskott-Aldrich syndrome protein family member 1 in oral squamous cell carcinoma.
De novo heterozygous mutations in WASF1 cause a rare form of intellectual disability.
Title: De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
Results from a study on gene expression variability markers in early-stage human embryos shows that WASF1 is a putative expression variability marker for the 3-day, 8-cell embryo stage.
Title: Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.
WASP and SCAR drive pseudopod formation and are conserved in actin-filled pseudopod-based motility.
Title: WASP and SCAR are evolutionarily conserved in actin-filled pseudopod-based motility.
Results suggested that WAVE1 is a critical pro-autophagic protein capable of enhancing cell survival and regulating chemoresistance in leukemia cells potentially through the Beclin1/Bcl-2 and Beclin1/PI3K- complex-dependent pathways.
Title: Knockdown of WAVE1 enhances apoptosis of leukemia cells by downregulating autophagy.
Results implicate a contributory role of WAVE1 and -3 to the metastatic phenotype of PC-3 cells through their interaction with the ARP2/3 complex.
Title: The Association Between WAVE1 and -3 and the ARP2/3 Complex in PC 3 Cells.

Submit: New GeneRIF Correction See all GeneRIFs (43)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neurodevelopmental disorder with absent language and variable seizures MedGen: C5231469 OMIM: 618707 GeneReviews: Not available	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	HIV-1-mediated effects on podosomes and migration involve Nef-HCK interaction, and HCK-mediated phosphorylation of WASP at podosomes	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

G19661 (e-PCR)
- UniSTS:39687

A001U21 (e-PCR)
- UniSTS:39688

D6S1324 (e-PCR)
- UniSTS:77078

RH12604 (e-PCR)
- UniSTS:80442

1634 (e-PCR)
- UniSTS:49530

A007F39 (e-PCR)
- UniSTS:15245

Wasf1 (e-PCR), detects polymorphism
- UniSTS:256992

WASF1_3919 (e-PCR)
- UniSTS:464616

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables Arp2/3 complex binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase A binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase A regulatory subunit binding	IBA Inferred from Biological aspect of Ancestor more info
contributes_to small GTPase binding	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in Rac protein signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in actin filament polymerization	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to brain-derived neurotrophic factor stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in dendrite extension	IEA Inferred from Electronic Annotation more info
involved_in lamellipodium morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in modification of postsynaptic actin cytoskeleton	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of Arp2/3 complex-mediated actin nucleation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of Arp2/3 complex-mediated actin nucleation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neurotrophin TRK receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in protein-containing complex assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in receptor-mediated endocytosis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of SCAR complex	IBA Inferred from Biological aspect of Ancestor more info
part_of SCAR complex	IMP Inferred from Mutant Phenotype more info	PubMed
located_in actin cytoskeleton	TAS Traceable Author Statement more info	PubMed
located_in cytoskeleton	TAS Traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in focal adhesion	IEA Inferred from Electronic Annotation more info
is_active_in lamellipodium	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial outer membrane	IEA Inferred from Electronic Annotation more info
located_in postsynapse	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: actin-binding protein WASF1

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

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001024934.2 → NP_001020105.1 actin-binding protein WASF1

See identical proteins and their annotated locations for NP_001020105.1

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

E1P5F2, Q5SZK7, Q92558

Related

ENSP00000376367.1, ENST00000392588.5

Conserved Domains (1) summary

cd22071
Location:485 → 559

WH2_WAVE-1; Wiskott Aldrich syndrome homology region 2 (WH2 motif) found in Wiskott-Aldrich Syndrome Protein Family Member 1 (WASP1 or WAVE1 or WASF1 or SCAR1)
NM_001024935.2 → NP_001020106.1 actin-binding protein WASF1

See identical proteins and their annotated locations for NP_001020106.1

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

E1P5F2, Q5SZK7, Q92558

Related

ENSP00000352425.2, ENST00000359451.6

Conserved Domains (1) summary

cd22071
Location:485 → 559

WH2_WAVE-1; Wiskott Aldrich syndrome homology region 2 (WH2 motif) found in Wiskott-Aldrich Syndrome Protein Family Member 1 (WASP1 or WAVE1 or WASF1 or SCAR1)
NM_001024936.2 → NP_001020107.1 actin-binding protein WASF1

See identical proteins and their annotated locations for NP_001020107.1

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

E1P5F2, Q5SZK7, Q92558

Related

ENSP00000376366.2, ENST00000392587.6

Conserved Domains (1) summary

cd22071
Location:485 → 559

WH2_WAVE-1; Wiskott Aldrich syndrome homology region 2 (WH2 motif) found in Wiskott-Aldrich Syndrome Protein Family Member 1 (WASP1 or WAVE1 or WASF1 or SCAR1)
NM_003931.3 → NP_003922.1 actin-binding protein WASF1

See identical proteins and their annotated locations for NP_003922.1

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

E1P5F2, Q5SZK7, Q92558

Related

ENSP00000376368.1, ENST00000392589.6

Conserved Domains (1) summary

cd22071
Location:485 → 559

WH2_WAVE-1; Wiskott Aldrich syndrome homology region 2 (WH2 motif) found in Wiskott-Aldrich Syndrome Protein Family Member 1 (WASP1 or WAVE1 or WASF1 or SCAR1)