1. Gene
  2. WIPF1 - WAS/WASL interacting protein family member 1 Gene

WIPF1 - WAS/WASL interacting protein family member 1 Gene

中文名称:WAS/WASL 相互作用蛋白家族成员 1

种属: Homo sapiens

同用名: WIP; WAS2; PRPL-2; WASPIP

基因 ID: 7456 | 基因类型: protein coding

关于 WIPF1

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:174,559,574-174,682,913 (from NCBI)

This gene has 26 transcripts (splice variants), 169 orthologues, 2 paralogues and is associated with 2 phenotypes. Broad expression in lymph node (RPKM 61.9), appendix (RPKM 50.1) and 23 other tissues.

功能概要

该基因编码的蛋白质在肌动蛋白细胞骨架的组织中起着重要作用。编码的蛋白质与 Wiskott-Aldrich 综合征蛋白的一个区域结合,该区域在 Wiskott-Aldrich 综合征 (一种 X 连锁隐性疾病) 中经常发生突变。这两种蛋白质之间相互作用的损害可能会导致这种疾病。已为该基因鉴定出编码相同蛋白质的两个转录物变体。[RefSeq 提供,2008 年 7 月]

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 disorder. Impairment of the interaction between these two proteins may contribute to the disease. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]

WIPF1 基因产物(10)

mRNA Protein Name
NM_001077269.1 NP_001070737.1 WAS/WASL-interacting protein family member 1 isoform a
NM_001375832.1 NP_001362761.1 WAS/WASL-interacting protein family member 1 isoform a
NM_001375833.1 NP_001362762.1 WAS/WASL-interacting protein family member 1 isoform a
NM_001375834.1 NP_001362763.1 WAS/WASL-interacting protein family member 1 isoform a
NM_001375835.1 NP_001362764.1 WAS/WASL-interacting protein family member 1 isoform b
NM_001375836.1 NP_001362765.1 WAS/WASL-interacting protein family member 1 isoform c
NM_001375837.1 NP_001362766.1 WAS/WASL-interacting protein family member 1 isoform c
NM_001375838.1 NP_001362767.1 WAS/WASL-interacting protein family member 1 isoform c
NM_001375839.1 NP_001362768.1 WAS/WASL-interacting protein family member 1 isoform d
NM_003387.5 NP_003378.3 WAS/WASL-interacting protein family member 1 isoform a
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables SH3 domain binding IPI
IPI: 通过物理相互作用推断
19798448 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9405671 GOA
enables protein folding chaperone EXP
EXP: 通过实验结果推断
23870269 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

WIPF1 蛋白结构

WH2

WH2: WH2 motif (30 - 55)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 503 a.a.
蛋白主名 其他名称

WAS/WASL-interacting protein family member 1

WASP-interacting protein

WIPF1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
WIPF1 O43516 FASTK Homo sapiens Q14296
Y2H Prey Pooling
25416956
种属内
WIPF1 O43516 HCK Homo sapiens P08631
Pull Down
12029088
种属内
WIPF1 O43516 WAS Homo sapiens P42768
Validated Y2H
25416956
种属内
WIPF1 O43516 WAS Homo sapiens P42768
Y2H
16488394
种属内
WIPF1 O43516 WAS Homo sapiens P42768
Y2H Array
25416956
种属内
WIPF1 O43516 WAS Homo sapiens P42768
Y2H
9405671
种属内
WIPF1 O43516 WAS Homo sapiens P42768
Pull Down
16488394
种属内
WIPF1 O43516 WAS Homo sapiens P42768
IF
19817875
种属内
WIPF1 O43516 WAS Homo sapiens P42768
Y2H Array
21988832
种属内
WIPF1 O43516 WAS Homo sapiens P42768
Pull Down
9405671
种属内
WIPF1 O43516 WAS Homo sapiens P42768
Anti Bait CoIP
17213309
种属内
WIPF1 O43516 NCK1 Homo sapiens P16333
Pull Down
12620186
种属内
WIPF1 O43516 ALAS1 Homo sapiens P13196
Y2H Array
25416956
种属间
WIPF1 O43516 Cttn Mus musculus Q60598
Pull Down
12620186
种属内
WIPF1 O43516 GRB2 Homo sapiens P62993
Y2H Array
21988832
种属内
WIPF1 O43516 ABI2 Homo sapiens Q9NYB9
Y2H Array
29892012
种属内
WIPF1 O43516 ABI2 Homo sapiens Q9NYB9
Validated Y2H
25416956
种属内
WIPF1 O43516 ABI2 Homo sapiens Q9NYB9
Y2H Array
25416956
种属内
WIPF1 O43516 WWP2 Homo sapiens O00308
Y2H Array
25416956
种属内
WIPF1 O43516 HOMER3 Homo sapiens Q9NSC5
Y2H Array
25416956
种属内
WIPF1 O43516 SEC24C Homo sapiens P53992
Y2H Prey Pooling
25416956
种属内
WIPF1 O43516 SEC24C Homo sapiens P53992
Validated Y2H
25416956
种属内
WIPF1 O43516 SEC24C Homo sapiens P53992
Y2H Array
25416956
种属内
WIPF1 O43516 WASL Homo sapiens O00401
Y2H Prey Pooling
25416956
种属内
WIPF1 O43516 WASL Homo sapiens O00401
Y2H
11331876
种属内
WIPF1 O43516 WASL Homo sapiens O00401
Y2H Array
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Wiskott-Aldrich Syndrome 2

WAS2

Wipf1 Deficiency

Wip Deficiency

Wiskott-Aldrich Syndrome

WAS

Eczema-Thrombocytopenia-Immunodeficiency Syndrome

Immunodeficiency 2

Aldrich Syndrome

Imd2

Wiskott-Aldrich Syndrome 1

Was1

Wiskott Syndrome

Wiskott Aldrich Syndrome

Eczema Thrombocytopenia Immunodeficiency Syndrome

Imd 2

Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos

Neutropenia, Severe Congenital, X-Linked

X-Linked Severe Congenital Neutropenia

XLN

SCNX

Severe Congenital Neutropenia X-Linked

Neutropenia, Congenital, Severe, X-Linked

Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia

Platelet Abnormalities With Eosinophilia And Immune-Mediated Inflammatory Disease

IMD71

Plteid

Immunodeficiency 71

Pedophilia

Paedophilia

Ceroid Lipofuscinosis, Neuronal, 6a

Neuronal Ceroid Lipofuscinosis 6

CLN6

Vlincl

Cln6 Disease

Ceroid Lipofuscinosis, Neuronal, 6

Late-Infantile Neuronal Ceroid Lipofuscinosis

CLN6A

Neuronal Ceroid Lipofuscinosis, Late Infantile, Variant

Neuronal Ceroid Lipofuscinosis 6a

Neuronal Ceroid Lipofuscinosis 6 Variable Age Of Onset

Cln6 Disease, Adult Kufs Type A

Cln6 Disease, Late Infantile

Neuronal Ceroid Lipofuscinosis, Gypsy/Indian Early Juvenile Variant

Ceroid Lipofuscinosis Neuronal 6

Cln6-Related Neuronal Ceroid Lipofuscinosis

Late Infantile Neuronal Ceroid Lipofuscinosis

Jansky-Bielschowsky Disease

Lincl

Late Infantile Ncl

Neuronal Ceroid Lipofuscinosis 6 With Variable Age At Onset

Variant Late-Onset Infantile Neuronal Ceroid Lipofuscinosis

Ceroid Lipofuscinosis, Neuronal, Late Infantile, Variant

Lipofuscinosis, Ceroid, Neuronal, Type 6

Ceroid Lipofuscinosis, Neuronal, 5

Subendocardial Myocardial Infarction
Immune Deficiency Disease

Immunodeficiency

Primary Immunodeficiency

Primary Immunodeficiency Disease

Immunologic Deficiency Syndromes

Hypoimmunity

Immune Deficiency Disorder

Immunodeficiency Syndrome

Immune Disorder

Primary Immune Deficiency Disorder

Immune System Diseases

Human Immunodeficiency Virus Infection

Hiv - [Human Immunodeficiency Virus Infection]

Hiv Positive Nos

Hiv Disease

Acquired Immune Deficiency Syndrome-Related Complex

Aids-Like Syndrome

Aids-Related Complex Nos

Arc - [Aids-Related Complex]

Immunodeficiency Due To Human Immunodeficiency Virus Infection

Unspecified Human Immunodeficiency Virus Disease

Hiv Disease Nos

Human Immunodeficiency Virus Positive Nos

Hiv Nos

Deficiency Of Complement Initial Pathway

Deficiency Of Complement Terminal Pathway

Cfdd - [Complement Factor D Deficiency]

Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

Nonfamilial Hypogammaglobulinaemia

Common Variable Immune Deficiency

Nonfamilial Agammaglobulinaemia

Common Variable Agammaglobulinaemia

Agammaglobulinaemia Nos

Agammaglobulinaemia Antibody Deficiency Syndrome

Hypogammaglobulinaemia Antibody Deficiency Syndrome

Acquired Agammaglobulinaemia Nos

Hypogammaglobulinaemia Nos

Hyper Igm

Omenn Syndrome

Histiocytic Medullary Reticulosis

Severe Combined Immunodeficiency With Hypereosinophilia

Combined Immunodeficiency With Hypereosinophilia

Reticuloendotheliosis, Familial, With Eosinophilia

Reticuloendotheliosis Familial With Eosinophilia

Familial Reticuloendotheliosis

Omenn'S Syndrome

OS

Malignant Histiocytosis

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Felis catus WIPF1 VGNC VGNC:67073
Macaca mulatta WIPF1 VGNC VGNC:78784
Canis familiaris WIPF1 VGNC VGNC:48410
Bos taurus WIPF1 VGNC VGNC:36939
Rattus norvegicus WIPF1 RGD RGD:620887
Mus musculus WIPF1 MGD MGI:2178801