UniProtKB - Q92558 (WASF1_HUMAN)
Wiskott-Aldrich syndrome protein family member 1
WASF1
Functioni
Downstream effector molecule involved in the transmission of signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton. Promotes formation of actin filaments. Part of the WAVE complex that regulates lamellipodia formation (PubMed:29961568).
The WAVE complex regulates actin filament reorganization via its interaction with the Arp2/3 complex (By similarity).
As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (By similarity).
Also involved in the regulation of mitochondrial dynamics (PubMed:29961568).
By similarity2 PublicationsGO - Molecular functioni
- actin binding Source: UniProtKB-KW
- Arp2/3 complex binding Source: GO_Central
- protein kinase A binding Source: UniProtKB
- protein kinase A regulatory subunit binding Source: GO_Central
GO - Biological processi
- actin cytoskeleton organization Source: UniProtKB
- actin filament polymerization Source: ProtInc
- cellular response to brain-derived neurotrophic factor stimulus Source: UniProtKB
- dendrite extension Source: Ensembl
- dendritic transport of mitochondrion Source: Ensembl
- lamellipodium morphogenesis Source: UniProtKB
- mitochondrion morphogenesis Source: UniProtKB
- modification of postsynaptic actin cytoskeleton Source: Ensembl
- positive regulation of Arp2/3 complex-mediated actin nucleation Source: UniProtKB
- positive regulation of neurotrophin TRK receptor signaling pathway Source: Ensembl
- protein-containing complex assembly Source: ProtInc
- Rac protein signal transduction Source: UniProtKB
- receptor-mediated endocytosis Source: UniProtKB
Keywordsi
Molecular function | Actin-binding |
Enzyme and pathway databases
PathwayCommonsi | Q92558 |
Reactomei | R-HSA-2029482, Regulation of actin dynamics for phagocytic cup formation R-HSA-4420097, VEGFA-VEGFR2 Pathway R-HSA-5663213, RHO GTPases Activate WASPs and WAVEs R-HSA-9013149, RAC1 GTPase cycle R-HSA-9013423, RAC3 GTPase cycle R-HSA-9664422, FCGR3A-mediated phagocytosis |
SignaLinki | Q92558 |
SIGNORi | Q92558 |
Names & Taxonomyi
Protein namesi | Recommended name: Wiskott-Aldrich syndrome protein family member 1CuratedShort name: WASP family protein member 1 Alternative name(s): Protein WAVE-1 Verprolin homology domain-containing protein 1 |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:12732, WASF1 |
MIMi | 605035, gene |
neXtProti | NX_Q92558 |
VEuPathDBi | HostDB:ENSG00000112290 |
Subcellular locationi
Cytoskeleton
- cytoskeleton 1 Publication
Other locations
- synapse By similarity
- focal adhesion 1 Publication
Note: Dot-like pattern in the cytoplasm. Concentrated in Rac-regulated membrane-ruffling areas (PubMed:9889097). Partial translocation to focal adhesion sites might be mediated by interaction with SORBS2 (PubMed:18559503). In neurons, colocalizes with activated NTRK2 after BDNF addition in endocytic sites through the association with TMEM108 (By similarity).By similarity2 Publications
Cytoskeleton
- actin cytoskeleton Source: ProtInc
- cytoskeleton Source: ProtInc
Cytosol
- cytosol Source: Reactome
Mitochondrion
- mitochondrial outer membrane Source: Ensembl
Other locations
- dendrite cytoplasm Source: GOC
- focal adhesion Source: UniProtKB-SubCell
- lamellipodium Source: GO_Central
- postsynapse Source: Ensembl
- protein-containing complex Source: UniProtKB
- SCAR complex Source: UniProtKB
Keywords - Cellular componenti
Cell junction, Cytoplasm, Cytoskeleton, SynapsePathology & Biotechi
Involvement in diseasei
Neurodevelopmental disorder with absent language and variable seizures (NEDALVS)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083471 | 506 – 559 | Missing in NEDALVS; expression of a truncated and unstable protein; altered actin organization and longer mitochondria. 1 PublicationAdd BLAST | 54 | |
Natural variantiVAR_083472 | 520 – 559 | Missing in NEDALVS. 1 PublicationAdd BLAST | 40 |
Keywords - Diseasei
Disease variant, Epilepsy, Mental retardationOrganism-specific databases
DisGeNETi | 8936 |
MalaCardsi | WASF1 |
MIMi | 618707, phenotype |
OpenTargetsi | ENSG00000112290 |
Orphaneti | 528084, Non-specific syndromic intellectual disability |
PharmGKBi | PA37343 |
Miscellaneous databases
Pharosi | Q92558, Tbio |
Genetic variation databases
BioMutai | WASF1 |
DMDMi | 2495730 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000188992 | 1 – 559 | Wiskott-Aldrich syndrome protein family member 1Add BLAST | 559 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 341 | Asymmetric dimethylarginine; alternateBy similarity | 1 | |
Modified residuei | 341 | Omega-N-methylarginine; alternateBy similarity | 1 | |
Modified residuei | 489 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Keywords - PTMi
Methylation, PhosphoproteinProteomic databases
EPDi | Q92558 |
jPOSTi | Q92558 |
MassIVEi | Q92558 |
MaxQBi | Q92558 |
PaxDbi | Q92558 |
PeptideAtlasi | Q92558 |
PRIDEi | Q92558 |
ProteomicsDBi | 75315 |
PTM databases
GlyGeni | Q92558, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q92558 |
PhosphoSitePlusi | Q92558 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000112290, Expressed in cerebral cortex and 223 other tissues |
ExpressionAtlasi | Q92558, baseline and differential |
Genevisiblei | Q92558, HS |
Organism-specific databases
HPAi | ENSG00000112290, Tissue enhanced (brain, testis) |
Interactioni
Subunit structurei
Component of the WAVE1 complex composed of ABI2, CYFIP1 or CYFIP2, BRK1, NCKAP1 and WASF1/WAVE1. Within the complex, a heterodimer containing NCKAP1 and CYFIP1 interacts with a heterotrimer formed by WAVE1, ABI2 and BRK1. CYFIP2 binds to activated RAC1 which causes the complex to dissociate, releasing activated WASF1. The complex can also be activated by NCK1. Binds actin and the Arp2/3 complex.
Interacts with BAIAP2.
Interacts with SHANK3; the interaction mediates the association of SHANK3 with the WAVE1 complex.
Interacts with ABI1 (via N-terminus).
Interacts with SORBS2; this interaction greatly enhances phosphorylation by ABL1 and dephosphorylation by PTPN12 and might mediate partial to focal adhesion sites.
3 PublicationsBinary interactionsi
Q92558
GO - Molecular functioni
- actin binding Source: UniProtKB-KW
- protein kinase A binding Source: UniProtKB
- protein kinase A regulatory subunit binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 114449, 103 interactors |
DIPi | DIP-39391N |
ELMi | Q92558 |
IntActi | Q92558, 52 interactors |
MINTi | Q92558 |
STRINGi | 9606.ENSP00000376368 |
Miscellaneous databases
RNActi | Q92558, protein |
Structurei
Secondary structure
3D structure databases
AlphaFoldDBi | Q92558 |
SMRi | Q92558 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q92558 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 497 – 514 | WH2PROSITE-ProRule annotationAdd BLAST | 18 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 170 – 202 | DisorderedSequence analysisAdd BLAST | 33 | |
Regioni | 304 – 400 | DisorderedSequence analysisAdd BLAST | 97 | |
Regioni | 412 – 491 | DisorderedSequence analysisAdd BLAST | 80 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 318 – 334 | Pro residuesSequence analysisAdd BLAST | 17 | |
Compositional biasi | 346 – 399 | Pro residuesSequence analysisAdd BLAST | 54 | |
Compositional biasi | 418 – 440 | Pro residuesSequence analysisAdd BLAST | 23 | |
Compositional biasi | 456 – 481 | Pro residuesSequence analysisAdd BLAST | 26 |
Domaini
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG1830, Eukaryota |
GeneTreei | ENSGT00950000182962 |
HOGENOMi | CLU_036022_2_0_1 |
InParanoidi | Q92558 |
OMAi | XPQTYVD |
OrthoDBi | 1183697at2759 |
PhylomeDBi | Q92558 |
TreeFami | TF315031 |
Family and domain databases
DisProti | DP02529 |
InterProi | View protein in InterPro IPR028288, SCAR/WAVE_fam IPR003124, WH2_dom |
PANTHERi | PTHR12902, PTHR12902, 1 hit |
Pfami | View protein in Pfam PF02205, WH2, 1 hit |
SMARTi | View protein in SMART SM00246, WH2, 1 hit |
PROSITEi | View protein in PROSITE PS51082, WH2, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All
10 20 30 40 50
MPLVKRNIDP RHLCHTALPR GIKNELECVT NISLANIIRQ LSSLSKYAED
60 70 80 90 100
IFGELFNEAH SFSFRVNSLQ ERVDRLSVSV TQLDPKEEEL SLQDITMRKA
110 120 130 140 150
FRSSTIQDQQ LFDRKTLPIP LQETYDVCEQ PPPLNILTPY RDDGKEGLKF
160 170 180 190 200
YTNPSYFFDL WKEKMLQDTE DKRKEKRKQK QKNLDRPHEP EKVPRAPHDR
210 220 230 240 250
RREWQKLAQG PELAEDDANL LHKHIEVANG PASHFETRPQ TYVDHMDGSY
260 270 280 290 300
SLSALPFSQM SELLTRAEER VLVRPHEPPP PPPMHGAGDA KPIPTCISSA
310 320 330 340 350
TGLIENRPQS PATGRTPVFV SPTPPPPPPP LPSALSTSSL RASMTSTPPP
360 370 380 390 400
PVPPPPPPPA TALQAPAVPP PPAPLQIAPG VLHPAPPPIA PPLVQPSPPV
410 420 430 440 450
ARAAPVCETV PVHPLPQGEV QGLPPPPPPP PLPPPGIRPS SPVTVTALAH
460 470 480 490 500
PPSGLHPTPS TAPGPHVPLM PPSPPSQVIP ASEPKRHPST LPVISDARSV
510 520 530 540 550
LLEAIRKGIQ LRKVEEQREQ EAKHERIEND VATILSRRIA VEYSDSEDDS
EFDEVDWLE
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketQ5SZK5 | Q5SZK5_HUMAN | Wiskott-Aldrich syndrome protein fa... | WASF1 | 180 | Annotation score: | ||
Q5SZK3 | Q5SZK3_HUMAN | Wiskott-Aldrich syndrome protein fa... | WASF1 | 89 | Annotation score: | ||
Q5SZK4 | Q5SZK4_HUMAN | Wiskott-Aldrich syndrome protein fa... | WASF1 | 140 | Annotation score: |
Sequence cautioni
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083471 | 506 – 559 | Missing in NEDALVS; expression of a truncated and unstable protein; altered actin organization and longer mitochondria. 1 PublicationAdd BLAST | 54 | |
Natural variantiVAR_083472 | 520 – 559 | Missing in NEDALVS. 1 PublicationAdd BLAST | 40 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF134303 mRNA Translation: AAD33052.1 D87459 mRNA Translation: BAA13399.2 Different initiation. AL590009 Genomic DNA No translation available. CH471051 Genomic DNA Translation: EAW48325.1 CH471051 Genomic DNA Translation: EAW48326.1 CH471051 Genomic DNA Translation: EAW48327.1 CH471051 Genomic DNA Translation: EAW48328.1 CH471051 Genomic DNA Translation: EAW48329.1 BC044591 mRNA Translation: AAH44591.1 |
CCDSi | CCDS5080.1 |
RefSeqi | NP_001020105.1, NM_001024934.1 NP_001020106.1, NM_001024935.1 NP_001020107.1, NM_001024936.1 NP_003922.1, NM_003931.2 XP_005267260.1, XM_005267203.3 XP_005267262.1, XM_005267205.2 XP_005267263.1, XM_005267206.2 XP_005267264.1, XM_005267207.2 XP_011534535.1, XM_011536233.1 XP_011534536.1, XM_011536234.1 XP_016866926.1, XM_017011437.1 XP_016866927.1, XM_017011438.1 |
Genome annotation databases
Ensembli | ENST00000359451.6; ENSP00000352425.2; ENSG00000112290.13 ENST00000392586.5; ENSP00000376365.1; ENSG00000112290.13 ENST00000392587.6; ENSP00000376366.2; ENSG00000112290.13 ENST00000392588.5; ENSP00000376367.1; ENSG00000112290.13 ENST00000392589.6; ENSP00000376368.1; ENSG00000112290.13 |
GeneIDi | 8936 |
KEGGi | hsa:8936 |
MANE-Selecti | ENST00000392589.6; ENSP00000376368.1; NM_003931.3; NP_003922.1 |
UCSCi | uc003ptv.1, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF134303 mRNA Translation: AAD33052.1 D87459 mRNA Translation: BAA13399.2 Different initiation. AL590009 Genomic DNA No translation available. CH471051 Genomic DNA Translation: EAW48325.1 CH471051 Genomic DNA Translation: EAW48326.1 CH471051 Genomic DNA Translation: EAW48327.1 CH471051 Genomic DNA Translation: EAW48328.1 CH471051 Genomic DNA Translation: EAW48329.1 BC044591 mRNA Translation: AAH44591.1 |
CCDSi | CCDS5080.1 |
RefSeqi | NP_001020105.1, NM_001024934.1 NP_001020106.1, NM_001024935.1 NP_001020107.1, NM_001024936.1 NP_003922.1, NM_003931.2 XP_005267260.1, XM_005267203.3 XP_005267262.1, XM_005267205.2 XP_005267263.1, XM_005267206.2 XP_005267264.1, XM_005267207.2 XP_011534535.1, XM_011536233.1 XP_011534536.1, XM_011536234.1 XP_016866926.1, XM_017011437.1 XP_016866927.1, XM_017011438.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3P8C | X-ray | 2.29 | D | 1-186 | [»] | |
D | 485-559 | [»] | ||||
4N78 | X-ray | 2.43 | D | 1-559 | [»] | |
AlphaFoldDBi | Q92558 | |||||
SMRi | Q92558 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 114449, 103 interactors |
DIPi | DIP-39391N |
ELMi | Q92558 |
IntActi | Q92558, 52 interactors |
MINTi | Q92558 |
STRINGi | 9606.ENSP00000376368 |
PTM databases
GlyGeni | Q92558, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q92558 |
PhosphoSitePlusi | Q92558 |
Genetic variation databases
BioMutai | WASF1 |
DMDMi | 2495730 |
Proteomic databases
EPDi | Q92558 |
jPOSTi | Q92558 |
MassIVEi | Q92558 |
MaxQBi | Q92558 |
PaxDbi | Q92558 |
PeptideAtlasi | Q92558 |
PRIDEi | Q92558 |
ProteomicsDBi | 75315 |
Protocols and materials databases
ABCDi | Q92558, 1 sequenced antibody |
Antibodypediai | 1180, 337 antibodies from 39 providers |
DNASUi | 8936 |
Genome annotation databases
Organism-specific databases
CTDi | 8936 |
DisGeNETi | 8936 |
GeneCardsi | WASF1 |
HGNCi | HGNC:12732, WASF1 |
HPAi | ENSG00000112290, Tissue enhanced (brain, testis) |
MalaCardsi | WASF1 |
MIMi | 605035, gene 618707, phenotype |
neXtProti | NX_Q92558 |
OpenTargetsi | ENSG00000112290 |
Orphaneti | 528084, Non-specific syndromic intellectual disability |
PharmGKBi | PA37343 |
VEuPathDBi | HostDB:ENSG00000112290 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1830, Eukaryota |
GeneTreei | ENSGT00950000182962 |
HOGENOMi | CLU_036022_2_0_1 |
InParanoidi | Q92558 |
OMAi | XPQTYVD |
OrthoDBi | 1183697at2759 |
PhylomeDBi | Q92558 |
TreeFami | TF315031 |
Enzyme and pathway databases
PathwayCommonsi | Q92558 |
Reactomei | R-HSA-2029482, Regulation of actin dynamics for phagocytic cup formation R-HSA-4420097, VEGFA-VEGFR2 Pathway R-HSA-5663213, RHO GTPases Activate WASPs and WAVEs R-HSA-9013149, RAC1 GTPase cycle R-HSA-9013423, RAC3 GTPase cycle R-HSA-9664422, FCGR3A-mediated phagocytosis |
SignaLinki | Q92558 |
SIGNORi | Q92558 |
Miscellaneous databases
BioGRID-ORCSi | 8936, 10 hits in 1079 CRISPR screens |
ChiTaRSi | WASF1, human |
EvolutionaryTracei | Q92558 |
GeneWikii | WASF1 |
GenomeRNAii | 8936 |
Pharosi | Q92558, Tbio |
PROi | PR:Q92558 |
RNActi | Q92558, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000112290, Expressed in cerebral cortex and 223 other tissues |
ExpressionAtlasi | Q92558, baseline and differential |
Genevisiblei | Q92558, HS |
Family and domain databases
DisProti | DP02529 |
InterProi | View protein in InterPro IPR028288, SCAR/WAVE_fam IPR003124, WH2_dom |
PANTHERi | PTHR12902, PTHR12902, 1 hit |
Pfami | View protein in Pfam PF02205, WH2, 1 hit |
SMARTi | View protein in SMART SM00246, WH2, 1 hit |
PROSITEi | View protein in PROSITE PS51082, WH2, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | WASF1_HUMAN | |
Accessioni | Q92558Primary (citable) accession number: Q92558 Secondary accession number(s): E1P5F2, Q5SZK7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | February 1, 1997 | |
Last modified: | May 25, 2022 | |
This is version 183 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families