WIPF1 (WAS/WASL interacting protein family member 1)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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7456 |
Gene nameGene Name - the full gene name approved by the HGNC.
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WAS/WASL interacting protein family member 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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WIPF1 |
SynonymsGene synonyms aliases
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PRPL-2, WAS2, WASPIP, WIP |
ChromosomeChromosome number
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2 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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2q31.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs1574785867 |
G>C |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0001726 |
Component |
Ruffle |
IEA |
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GO:0003779 |
Function |
Actin binding |
IEA |
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GO:0005515 |
Function |
Protein binding |
IPI |
9405671, 10202051, 11331876, 12029088, 12591280, 12620186, 16488394, 16582881, 17213309, 17606906, 19805221, 20936779, 21398607, 21516116, 21706016, 21988832, 23414517, 25416956, 28514442, 29892012 |
GO:0005522 |
Function |
Profilin binding |
TAS |
9405671 |
GO:0005829 |
Component |
Cytosol |
TAS |
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GO:0005884 |
Component |
Actin filament |
IBA |
21873635 |
GO:0008154 |
Process |
Actin polymerization or depolymerization |
IEA |
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GO:0015629 |
Component |
Actin cytoskeleton |
TAS |
9405671 |
GO:0017124 |
Function |
SH3 domain binding |
IPI |
19798448 |
GO:0030048 |
Process |
Actin filament-based movement |
IBA |
21873635 |
GO:0031410 |
Component |
Cytoplasmic vesicle |
IEA |
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GO:0038096 |
Process |
Fc-gamma receptor signaling pathway involved in phagocytosis |
TAS |
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GO:0051707 |
Process |
Response to other organism |
IEA |
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GO:0065003 |
Process |
Protein-containing complex assembly |
TAS |
9405671 |
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF02205 |
WH2 |
29 → 55 |
WH2 motif |
Family |
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Sequence |
MPVPPPPAPPPPPTFALANTEKPTLNKTEQAGRNALLSDISKGKKLKKTVTNDRSAPILD KPKGAGAGGGGGGFGGGGGFGGGGGGGGGGSFGGGGPPGLGGLFQAGMPKLRSTANRDND SGGSRPPLLPPGGRSTSAKPFSPPSGPGRFPVPSPGHRSGPPEPQRNRMPPPRPDVGSKP DSIPPPVPSTPRPIQSSPHNRGSPPVPGGPRQPSPGPTPPPFPGNRGTALGGGSIRQSPL SSSSPFSNRPPLPPTPSRALDDKPPPPPPPVGNRPSIHREAVPPPPPQNNKPPVPSTPRP SASSQAPPPPPPPSRPGPPPLPPSSSGNDETPRLPQRNLSLSSSTPPLPSPGRSGPLPPP PSERPPPPVRDPPGRSGPLPPPPPVSRNGSTSRALPATPQLPSRSGVDSPRSGPRPPLPP DRPSAGAPPPPPPSTSIRNGFQDSPCEDEWESRFYFHPISDLPPPEPYVQTTKSYPSKLA RNESRSGSNRRERGAPPLPPIPR
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Sequence length |
503 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Anemia |
Anemia, Hemolytic, Iron-Refractory Iron Deficiency Anemia |
rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 |
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Arthritis |
Arthritis |
rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 |
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Atrial fibrillation |
Atrial Fibrillation |
rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675 |
30061737 |
Chronic obstructive pulmonary disease |
Chronic Obstructive Airway Disease |
rs2227956, rs1008438, rs1043618, rs562047, rs1061581, rs2763979, rs6457452, rs13147758, rs1828591, rs13118928 |
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Keratitis |
Keratitis |
rs587776571 |
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Kidney disease |
Kidney Diseases |
rs74315342, rs749740335, rs757649673, rs112417755, rs35138315 |
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Leukemia |
Acute leukemia, Chronic leukemia (category) |
rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601 |
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Lymphoma |
Lymphoma |
rs11540652, rs1592119138, rs1592123162, rs1599367044 |
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Neutropenia |
Neutropenia |
rs879253882 |
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Vasculitis |
Vasculitis |
rs376785840, rs587777240, rs200930463, rs587777241, rs77563738, rs202134424, rs148936893, rs587777242, rs775440641, rs770689762, rs45511697, rs139750129, rs756881285, rs747774101, rs1568966771, rs766602945, rs1601419986, rs1489114116, rs754904956, rs755007390, rs368615054 |
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Wiskott-aldrich syndrome |
Wiskott-Aldrich Syndrome, WISKOTT-ALDRICH SYNDROME 2 |
rs2147262829, rs132630268, rs132630269, rs132630271, rs587776742, rs587776743, rs132630273, rs587776744, rs1602178087, rs1602177733, rs587776745, rs1602176299, rs1574785867, rs193922414, rs193922415, rs193922416, rs1057517845, rs886039451, rs1057520700, rs1064793293, rs1557007123, rs1557007035, rs1557006474, rs1557006672, rs1557007312, rs1557006239, rs1569494025, rs1602178800, rs1602179794, rs1602179810, rs2062432605, rs2062432653, rs2062410421, rs2062417344 |
22231303, 9405671, 27742395 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Congenital hypoplasia of thymus |
Congenital hypoplasia of thymus |
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Conjunctivitis |
Conjunctivitis |
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Eczema |
Eczema |
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Hematomas |
Spontaneous hematomas |
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Hyperostosis |
Hyperostosis |
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Immunologic deficiency syndromes |
Immunologic Deficiency Syndromes |
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Lymphopenia |
Lymphopenia |
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Nervous system diseases |
Peripheral Nervous System Diseases |
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Otitis media |
Chronic otitis media |
rs601338, rs1047781, rs1800028 |
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Paroxysmal atrial fibrillation |
Paroxysmal atrial fibrillation |
rs199865688, rs397515994, rs757096307 |
30061737 |
Renal glomerular disease |
Renal glomerular disease |
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Sinusitis |
Sinusitis |
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Specific learning disorder |
Specific learning disability |
rs1057519497 |
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Urticaria |
Urticaria |
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