WIPF1 (WAS/WASL interacting protein family member 1)

Gene

• Entrez ID: 7456
• Gene name: WAS/WASL interacting protein family member 1
• Gene symbol: WIPF1
• Synonyms (NCBI Gene): PRPL-2, WAS2, WASPIP, WIP
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 602357
• HGNC: 12736
• e!Ensembl: ENSG00000115935

Protein

• UniProt ID: 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

Pathways

KEGG:

Endocytosis
Pathogenic Escherichia coli infection
Yersinia infection

Reactome:

Regulation of actin dynamics for phagocytic cup formation
RHO GTPases Activate WASPs and WAVEs
FCGR3A-mediated phagocytosis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Wiskott-Aldrich syndrome 2	Pathogenic	rs2468475708, rs1574785867, rs1684878263	RCV003643830 RCV000023193 RCV001253818	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WIPF1-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WISKOTT-ALDRICH SYNDROME	—	CTD, Disgenet CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	30041660		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	20671065		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19399471, 28166194		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19399471, 27009365	Associate	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	24504811		★☆☆☆☆ Found in Text Mining only
Chronic leukemia (category)	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29857784		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19399471		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19399471	Associate	★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	BEFREE	30450104		★☆☆☆☆ Found in Text Mining only
Congenital Bone Marrow Failure Syndromes	Congenital bone marrow failure syndrome	Pubtator	33104793	Associate	★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of thymus	Congenital Hypoplasia Of Thymus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary Stenosis	BEFREE	31378382		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	30450104		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	37246165	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28166194, 29890731		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28166194, 29890731		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	19399471	Associate	★☆☆☆☆ Found in Text Mining only
Hyperostosis	Hyperostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Iron-Refractory Iron Deficiency Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	30510251		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	24504811		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	21590681, 24504811		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	30510251		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19399471, 28166194		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	20671065		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	27863429		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22837718, 28166194, 30041660		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	23007990		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19399471, 28166194, 29890731, 30041660, 30510251		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nocturia	Nocturia	BEFREE	27564779		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	30041660		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	27863429		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	30061737		★☆☆☆☆ Found in Text Mining only
Periapical Periodontitis	Periapical Periodontitis	BEFREE	28673495		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	34925639	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	20671065		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spontaneous hematomas	Hematomas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34257533, 37210507	Associate	★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	30510251		★☆☆☆☆ Found in Text Mining only
Thrombocytopenia 1	Thrombocytopenia	Pubtator	12591280, 25200405	Associate	★☆☆☆☆ Found in Text Mining only
THROMBOCYTOPENIA 1 (disorder)	Thrombocytopenia	BEFREE	21376381, 22837718, 25200405, 29215267		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	27863429		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	27863429		★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	34925639	Associate	★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	BEFREE	10202051, 10358064, 10706671, 12591280, 15469902, 21376381, 22231303, 22837718, 24440360, 25200405, 29215267, 29337666, 30450104		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	LHGDN	17213309		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	ORPHANET_DG	22231303		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wiskott-Aldrich syndrome	Wiskott-Aldrich Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WISKOTT-ALDRICH SYNDROME 2	Wiskott-Aldrich Syndrome	GENOMICS_ENGLAND_DG	27742395, 9405671		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)