Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7456
Gene name	WAS/WASL interacting protein family member 1
Gene symbol	WIPF1
Synonyms (NCBI Gene)	PRPL-2WAS2WASPIPWIP
Chromosome	2
Chromosome location	2q31.1
Summary	This gene encodes a protein that plays an important role in the organization of the actin cytoskeleton. The encoded protein binds to a region of Wiskott-Aldrich syndrome protein that is frequently mutated in Wiskott-Aldrich syndrome, an X-linked recessive

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1574785867	G>C	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant

101

Show/Hide all (101)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003872	hsa-miR-15a-5p	Microarray	18362358
MIRT004366	hsa-miR-16-5p	Microarray	18362358
MIRT022917	hsa-miR-124-3p	Microarray	18668037
MIRT053462	hsa-miR-200c-3p	Microarray	23807165
MIRT441697	hsa-miR-99a-3p	PAR-CLIP	22100165
MIRT441696	hsa-miR-99b-3p	PAR-CLIP	22100165
MIRT441695	hsa-miR-3917	PAR-CLIP	22100165
MIRT441694	hsa-miR-5002-3p	PAR-CLIP	22100165
MIRT441693	hsa-miR-1288-3p	PAR-CLIP	22100165
MIRT441697	hsa-miR-99a-3p	PAR-CLIP	22100165
MIRT441696	hsa-miR-99b-3p	PAR-CLIP	22100165
MIRT441695	hsa-miR-3917	PAR-CLIP	22100165
MIRT441694	hsa-miR-5002-3p	PAR-CLIP	22100165
MIRT441693	hsa-miR-1288-3p	PAR-CLIP	22100165
MIRT1492719	hsa-miR-1178	CLIP-seq
MIRT1492720	hsa-miR-135a	CLIP-seq
MIRT1492721	hsa-miR-135b	CLIP-seq
MIRT1492722	hsa-miR-28-5p	CLIP-seq
MIRT1492723	hsa-miR-3119	CLIP-seq
MIRT1492724	hsa-miR-3139	CLIP-seq
MIRT1492725	hsa-miR-3157-5p	CLIP-seq
MIRT1492726	hsa-miR-3664-3p	CLIP-seq
MIRT1492727	hsa-miR-3692	CLIP-seq
MIRT1492728	hsa-miR-4433	CLIP-seq
MIRT1492729	hsa-miR-4459	CLIP-seq
MIRT1492730	hsa-miR-4691-3p	CLIP-seq
MIRT1492731	hsa-miR-4768-3p	CLIP-seq
MIRT1492732	hsa-miR-708	CLIP-seq
MIRT1492733	hsa-miR-1183	CLIP-seq
MIRT1492734	hsa-miR-1184	CLIP-seq
MIRT1492735	hsa-miR-1255a	CLIP-seq
MIRT1492736	hsa-miR-1255b	CLIP-seq
MIRT1492737	hsa-miR-1279	CLIP-seq
MIRT1492738	hsa-miR-1299	CLIP-seq
MIRT1492739	hsa-miR-1301	CLIP-seq
MIRT1492740	hsa-miR-1321	CLIP-seq
MIRT1492741	hsa-miR-141	CLIP-seq
MIRT1492742	hsa-miR-153	CLIP-seq
MIRT1492743	hsa-miR-1827	CLIP-seq
MIRT1492744	hsa-miR-196a	CLIP-seq
MIRT1492745	hsa-miR-196b	CLIP-seq
MIRT1492746	hsa-miR-1976	CLIP-seq
MIRT1492747	hsa-miR-200a	CLIP-seq
MIRT1492748	hsa-miR-200b	CLIP-seq
MIRT1492749	hsa-miR-200c	CLIP-seq
MIRT1492750	hsa-miR-2054	CLIP-seq
MIRT1492751	hsa-miR-299-3p	CLIP-seq
MIRT1492752	hsa-miR-30a	CLIP-seq
MIRT1492753	hsa-miR-30b	CLIP-seq
MIRT1492754	hsa-miR-30c	CLIP-seq
MIRT1492755	hsa-miR-30d	CLIP-seq
MIRT1492756	hsa-miR-30e	CLIP-seq
MIRT1492723	hsa-miR-3119	CLIP-seq
MIRT1492757	hsa-miR-3163	CLIP-seq
MIRT1492758	hsa-miR-3185	CLIP-seq
MIRT1492759	hsa-miR-3202	CLIP-seq
MIRT1492760	hsa-miR-331-5p	CLIP-seq
MIRT1492761	hsa-miR-3606	CLIP-seq
MIRT1492762	hsa-miR-3607-5p	CLIP-seq
MIRT1492763	hsa-miR-3662	CLIP-seq
MIRT1492764	hsa-miR-374c	CLIP-seq
MIRT1492765	hsa-miR-3927	CLIP-seq
MIRT1492766	hsa-miR-3935	CLIP-seq
MIRT1492767	hsa-miR-4270	CLIP-seq
MIRT1492768	hsa-miR-4279	CLIP-seq
MIRT1492769	hsa-miR-4282	CLIP-seq
MIRT1492770	hsa-miR-429	CLIP-seq
MIRT1492771	hsa-miR-4441	CLIP-seq
MIRT1492772	hsa-miR-4457	CLIP-seq
MIRT1492773	hsa-miR-4476	CLIP-seq
MIRT1492774	hsa-miR-4491	CLIP-seq
MIRT1492775	hsa-miR-4514	CLIP-seq
MIRT1492776	hsa-miR-4657	CLIP-seq
MIRT1492777	hsa-miR-4660	CLIP-seq
MIRT1492778	hsa-miR-4666-3p	CLIP-seq
MIRT1492779	hsa-miR-4680-5p	CLIP-seq
MIRT1492780	hsa-miR-4682	CLIP-seq
MIRT1492781	hsa-miR-4692	CLIP-seq
MIRT1492782	hsa-miR-4724-5p	CLIP-seq
MIRT1492783	hsa-miR-4729	CLIP-seq
MIRT1492784	hsa-miR-4739	CLIP-seq
MIRT1492785	hsa-miR-4756-5p	CLIP-seq
MIRT1492786	hsa-miR-4778-5p	CLIP-seq
MIRT1492787	hsa-miR-4779	CLIP-seq
MIRT1492788	hsa-miR-4782-5p	CLIP-seq
MIRT1492789	hsa-miR-4790-3p	CLIP-seq
MIRT1492790	hsa-miR-5047	CLIP-seq
MIRT1492791	hsa-miR-516b	CLIP-seq
MIRT1492792	hsa-miR-618	CLIP-seq
MIRT1492793	hsa-miR-655	CLIP-seq
MIRT1492794	hsa-miR-765	CLIP-seq
MIRT1492795	hsa-miR-940	CLIP-seq
MIRT2148563	hsa-miR-494	CLIP-seq
MIRT2396993	hsa-miR-4659a-3p	CLIP-seq
MIRT2396994	hsa-miR-4659b-3p	CLIP-seq
MIRT1492746	hsa-miR-1976	CLIP-seq
MIRT1492768	hsa-miR-4279	CLIP-seq
MIRT2434714	hsa-miR-767-5p	CLIP-seq
MIRT1492720	hsa-miR-135a	CLIP-seq
MIRT1492721	hsa-miR-135b	CLIP-seq
MIRT1492723	hsa-miR-3119	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001726	Component	Ruffle	IEA
GO:0003779	Function	Actin binding	IEA
GO:0003779	Function	Actin binding	TAS	9405671
GO:0005515	Function	Protein binding	IPI	9405671, 10202051, 11331876, 12029088, 12591280, 12620186, 16488394, 16582881, 17213309, 17606906, 19805221, 19817875, 20936779, 21398607, 21516116, 21706016, 21988832, 23414517, 25416956, 28514442, 29892012, 32296183, 33961781, 35271311, 36935496
GO:0005522	Function	Profilin binding	TAS	9405671
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005884	Component	Actin filament	IBA
GO:0005884	Component	Actin filament	IEA
GO:0006457	Process	Protein folding	IEA
GO:0008093	Function	Cytoskeletal anchor activity	IDA	17141616
GO:0008154	Process	Actin polymerization or depolymerization	TAS	9405671
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0015629	Component	Actin cytoskeleton	TAS	9405671
GO:0017124	Function	SH3 domain binding	IPI	19798448
GO:0030029	Process	Actin filament-based process	IEA
GO:0030048	Process	Actin filament-based movement	IBA
GO:0030048	Process	Actin filament-based movement	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0042995	Component	Cell projection	IEA
GO:0044183	Function	Protein folding chaperone	EXP	23870269
GO:0051707	Process	Response to other organism	IEA
GO:0065003	Process	Protein-containing complex assembly	TAS	9405671

MIM	HGNC	e!Ensembl
602357	12736	ENSG00000115935

O43516

Protein name

WAS/WASL-interacting protein family member 1 (Protein PRPL-2) (Wiskott-Aldrich syndrome protein-interacting protein) (WASP-interacting protein)

Protein function

Plays a role in the reorganization of the actin cytoskeleton. Contributes with NCK1 and GRB2 in the recruitment and activation of WASL. May participate in regulating the subcellular localization of WASL, resulting in the disassembly of stress fi

PDB

2A41 , 9EZN , 9EZO , 9EZP

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02205	WH2	29 → 55	WH2 motif	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in peripheral blood mononuclear cells, spleen, placenta, small intestine, colon and thymus. Lower expression in ovary, heart, brain, lung, liver, skeletal muscle, kidney, pancreas, prostate and testis. {ECO:0000269|Pub

Sequence

MPVPPPPAPPPPPTFALANTEKPTLNKTEQAGRNALLSDISKGKKLKKTVTNDRSAPILD
KPKGAGAGGGGGGFGGGGGFGGGGGGGGGGSFGGGGPPGLGGLFQAGMPKLRSTANRDND
SGGSRPPLLPPGGRSTSAKPFSPPSGPGRFPVPSPGHRSGPPEPQRNRMPPPRPDVGSKP
DSIPPPVPSTPRPIQSSPHNRGSPPVPGGPRQPSPGPTPPPFPGNRGTALGGGSIRQSPL
SSSSPFSNRPPLPPTPSRALDDKPPPPPPPVGNRPSIHREAVPPPPPQNNKPPVPSTPRP
SASSQAPPPPPPPSRPGPPPLPPSSSGNDETPRLPQRNLSLSSSTPPLPSPGRSGPLPPP
PSERPPPPVRDPPGRSGPLPPPPPVSRNGSTSRALPATPQLPSRSGVDSPRSGPRPPLPP
DRPSAGAPPPPPPSTSIRNGFQDSPCEDEWESRFYFHPISDLPPPEPYVQTTKSYPSKLA
RNESRSGSNRRERGAPPLPPIPR

Sequence length

503

Interactions

View interactions

	KEGG		Reactome
	Endocytosis Pathogenic Escherichia coli infection Yersinia infection		Regulation of actin dynamics for phagocytic cup formation RHO GTPases Activate WASPs and WAVEs FCGR3A-mediated phagocytosis

273

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Wiskott-Aldrich syndrome 2	Pathogenic	rs2468475708, rs1574785867, rs1684878263	RCV003643830 RCV000023193 RCV001253818

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Malignant tumor of urinary bladder	Likely benign	rs781522403	RCV005912090
WIPF1-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	rs887452483, rs141354164, rs541606974, rs138276021, rs35923393, rs76308107, rs149434153, rs111761533, rs76731102, rs146533814, rs11551322	RCV003938725 RCV003948478 RCV003968838 RCV004757178 RCV003915601 RCV003905433 RCV003952837 RCV003952838 RCV003937960 RCV003922928 RCV003898229

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	19399471, 27009365
Colorectal Neoplasms	Associate	19399471
Congenital Bone Marrow Failure Syndromes	Associate	33104793
Drug Related Side Effects and Adverse Reactions	Associate	16606694, 18258743
Epilepsy	Associate	37246165
Glioma	Associate	19399471
Immunologic Deficiency Syndromes	Associate	10358064
Neoplasms	Associate	19399471, 27009365, 27851961
Neoplasms	Stimulate	34257533
Periodontitis	Associate	34925639
Primary Immunodeficiency Diseases	Associate	22231303
Squamous Cell Carcinoma of Head and Neck	Associate	34257533, 37210507
Thrombocytopenia 1	Associate	12591280, 25200405
Venous Thromboembolism	Associate	34925639
Wiskott Aldrich Syndrome	Associate	10358064, 10706671, 12591280, 15469902, 17711847, 19399471, 22231303, 9405671

WIPF1 (WAS/WASL interacting protein family member 1)