Reactome | UniProt:Q92558 WASF1

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UniProt:Q92558 WASF1 Show undefined attributes

chain	chain:1-559
checksum	44B4527BDB77BC6E
comment	FUNCTION 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).SUBUNIT 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.INTERACTION 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).TISSUE SPECIFICITY Highly expressed in brain. Lowly expressed in testis, ovary, colon, kidney, pancreas, thymus, small intestine and peripheral blood.DOMAIN Binds the Arp2/3 complex through the C-terminal region and actin through verprolin homology (VPH) domain.PTM Phosphorylated on tyrosine residues by ABL1 and dephosphorylated by PTPN12.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the SCAR/WAVE family.SEQUENCE CAUTION Extended N-terminus.
crossReference	[DatabaseIdentifier:12287454] Pharos - Targets:Q92558 [DatabaseIdentifier:12462991] RefSeq:NP_001020106.1 [DatabaseIdentifier:12462993] RefSeq:NP_001020105.1 [DatabaseIdentifier:12462992] RefSeq:NP_003922.1 [DatabaseIdentifier:12462990] RefSeq:NP_001020107.1 [DatabaseIdentifier:11517294] ENSEMBL:ENSG00000112290 [DatabaseIdentifier:11634715] ENSEMBL:ENSP00000352425 [DatabaseIdentifier:11634711] ENSEMBL:ENSP00000376367 [DatabaseIdentifier:11634713] ENSEMBL:ENSP00000376365 [DatabaseIdentifier:11634712] ENSEMBL:ENSP00000376368 [DatabaseIdentifier:11634714] ENSEMBL:ENSP00000376366 [DatabaseIdentifier:11757414] ENSEMBL:ENST00000392589 [DatabaseIdentifier:11757411] ENSEMBL:ENST00000392588 [DatabaseIdentifier:11757412] ENSEMBL:ENST00000392587 [DatabaseIdentifier:11757410] ENSEMBL:ENST00000392586 [DatabaseIdentifier:11757413] ENSEMBL:ENST00000359451 [DatabaseIdentifier:11789598] GeneCards:WASF1 [DatabaseIdentifier:11805250] GlyGen:Q92558 [DatabaseIdentifier:11842625] HPA:ENSG00000112290-WASF1 [DatabaseIdentifier:12127218] OpenTargets:ENSG00000112290 [DatabaseIdentifier:12150536] PDB:7USD [DatabaseIdentifier:12150534] PDB:4N78 [DatabaseIdentifier:12150537] PDB:7USE [DatabaseIdentifier:12150533] PDB:3P8C [DatabaseIdentifier:12150535] PDB:7USC [DatabaseIdentifier:12268057] PRO:Q92558
databaseName	UniProt
dbId	67290
description	recommendedName: fullName evidence="10"Actin-binding protein WASF1 alternativeName: Protein WAVE-1 alternativeName: Verprolin homology domain-containing protein 1 alternativeName: fullName evidence="10"Wiskott-Aldrich syndrome protein family member 1 shortName: WASP family protein member 1
displayName	UniProt:Q92558 WASF1
geneName	WASF1 KIAA0269 SCAR1 WAVE1
identifier	Q92558
isSequenceChanged	false
keyword	3D-structure Actin-binding Cell junction Cytoplasm Cytoskeleton Disease variant Epilepsy Intellectual disability Methylation Phosphoprotein Proteomics identification Reference proteome Synapse
modified	[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
moleculeType	Protein
name	WASF1
otherIdentifier	11723005_a_at 11731581_a_at 11731582_a_at 17022529 204165_PM_at 204165_at 2969296 2969297 2969299 2969300 2969301 2969302 2969304 2969305 2969306 2969307 2969308 2969309 2969310 2969311 2969312 2969313 2969319 2969320 2969323 2969325 2969326 2969327 2969328 37190_at 8128818 8936 A_23_P168306 A_33_P3243812 D87459_at GE57411 GE688068 GO:0003779 GO:0005515 GO:0005737 GO:0005739 GO:0005741 GO:0005829 GO:0005856 GO:0005925 GO:0006898 GO:0007005 GO:0008092 GO:0015629 GO:0016192 GO:0016601 GO:0030027 GO:0030036 GO:0030041 GO:0031175 GO:0031209 GO:0031267 GO:0032839 GO:0032991 GO:0034237 GO:0045202 GO:0051018 GO:0051388 GO:0065003 GO:0070161 GO:0071933 GO:0072673 GO:0097484 GO:0098794 GO:0098885 GO:0098939 GO:1990416 GO:2000601 HMNXSV003000290 ILMN_1756079 ILMN_2342174 PH_hs_0027688 TC06002007.hg g4507912_3p_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-5672390] p-Y151,S,T-WASF1 [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2029058] p-Y151-WASF1 [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-200965] WASF1 [cytosol] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:ensembl:ENSG00000112290] ENSEMBL:ENSG00000112290 WASF1 [ReferenceDNASequence:12766031] UCSC:Q92558 WASF1 [ReferenceDNASequence:11381251] BioGPS Gene:8936 WASF1 [ReferenceDNASequence:11403555] COSMIC - genes:WASF1 WASF1 [ReferenceDNASequence:11416379] CTD Gene:8936 WASF1 [ReferenceDNASequence:11441175] dbSNP Gene:8936 WASF1 [ReferenceDNASequence:11821255] HGNC:12732 WASF1 [ReferenceDNASequence:11918158] KEGG:hsa:8936 WASF1 [ReferenceDNASequence:12011040] Monarch:8936 WASF1 [ReferenceDNASequence:12095133] NCBI Gene:8936 WASF1 [ReferenceDNASequence:12112116] OMIM:605035 WASF1
referenceTranscript	[ReferenceRNASequence:12644467] RefSeq:NM_003931.3 WASF1 [ReferenceRNASequence:12644465] RefSeq:NM_001024935.2 WASF1 [ReferenceRNASequence:12644466] RefSeq:NM_001024934.2 WASF1 [ReferenceRNASequence:12644464] RefSeq:NM_001024936.2 WASF1
schemaClass	ReferenceGeneProduct
secondaryIdentifier	WASF1_HUMAN E1P5F2 Q5SZK7
sequenceLength	559
species	[Species:48887] Homo sapiens
stId	uniprot:Q92558
url	http://purl.uniprot.org/uniprot/Q92558

Referrals

(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-5672390] p-Y151,S,T-WASF1 [cytosol] [EntityWithAccessionedSequence:R-HSA-2029058] p-Y151-WASF1 [cytosol] [EntityWithAccessionedSequence:R-HSA-200965] WASF1 [cytosol]
(referenceSequence)	[ModifiedResidue:5672389] O-phospho-L-threonine at unknown position [ModifiedResidue:2029067] O4'-phospho-L-tyrosine at 151 [ModifiedResidue:5672387] O-phospho-L-serine at unknown position
(interactor)	[UndirectedInteraction:11132741] UniProt:Q8IY31 <-> UniProt:Q92558 (IntAct) [UndirectedInteraction:11139611] UniProt:P31946 <-> UniProt:Q92558 (IntAct) [UndirectedInteraction:11177377] UniProt:P07737 <-> UniProt:Q92558 (IntAct) [UndirectedInteraction:11189765] UniProt:P62993 <-> UniProt:Q92558 (IntAct) [UndirectedInteraction:11197625] UniProt:P00519 <-> UniProt:Q92558 (IntAct) [UndirectedInteraction:11215059] UniProt:O43639 <-> UniProt:Q92558 (IntAct) [UndirectedInteraction:11241155] UniProt:Q9UQB8 <-> UniProt:Q92558 (IntAct) [UndirectedInteraction:11243699] UniProt:P61981 <-> UniProt:Q92558 (IntAct) [UndirectedInteraction:11244883] UniProt:Q12933 <-> UniProt:Q92558 (IntAct) [UndirectedInteraction:11275325] UniProt:P16333 <-> UniProt:Q92558 (IntAct)