1. Gene
  2. WAS - WASP actin nucleation promoting factor Gene

WAS - WASP actin nucleation promoting factor Gene

中文名称:WASP 肌动蛋白成核促进因子

种属: Homo sapiens

同用名: THC; IMD2; SCNX; THC1; WASP; WASPA

基因 ID: 7454 | 基因类型: protein coding

关于 WAS

Cytogenetic location: Xp11.23 Genomic coordinates (GRCh38): X:48,676,636-48,691,427 (from NCBI)

This gene has 9 transcripts (splice variants), 164 orthologues, 1 paralogue and is associated with 59 phenotypes. Broad expression in spleen (RPKM 29.3), appendix (RPKM 29.1) and 15 other tissues.

功能概要

Wiskott-Aldrich 综合征 (WAS) 蛋白家族具有相似的域结构,并参与信号从细胞表面受体到肌动蛋白细胞骨架的转导。许多不同基序的存在表明它们受许多不同刺激的调节,并与多种蛋白质相互作用。最近的研究表明,这些蛋白质直接或间接地与已知调节肌动蛋白丝形成的小 GTP 酶 Cdc42 和细胞骨架组织复合物 Arp2/3 相关联。 Wiskott-Aldrich 综合征是一种罕见的遗传性 X 连锁隐性疾病,其特征是免疫失调和微血小板减少症,由 WAS 基因突变引起。 WAS 基因产物是一种细胞质蛋白,仅在造血细胞中表达,在 WAS 患者中表现出信号和细胞骨架异常。已经描述了由于替代启动子使用而产生的转录变体,并且包含不同的 5' UTR 序列,但是,其全长性质尚不清楚。[RefSeq 提供,2008 年 7 月]

The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin Cytoskeleton. The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins. Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3. Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene. The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients. A transcript variant arising as a result of alternative promoter usage, and containing a different 5' UTR sequence, has been described, however, its full-length nature is not known. [provided by RefSeq, Jul 2008]

WAS 基因产物(1)

mRNA Protein Name
NM_000377.3 NP_000368.1 actin nucleation-promoting factor WAS
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
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
8892607 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
10724160 GOA
enables phospholipase binding IPI
IPI: 通过物理相互作用推断
8892607 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
8892607 GOA
enables protein kinase binding IPI
IPI: 通过物理相互作用推断
8892607 GOA
enables small GTPase binding IPI
IPI: 通过物理相互作用推断
8625410 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in actin filament IDA
IDA: 通过直接分析推断
8625410 GOA
located in cytosol IDA
IDA: 通过直接分析推断
8625410 GOA
located in nucleus IDA
IDA: 通过直接分析推断
20574068 GOA
located in site of double-strand break IDA
IDA: 通过直接分析推断
29925947 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

WAS 蛋白结构

WH1

WH1: WH1 domain (36 - 144)

PBD

PBD: P21-Rho-binding domain (237 - 294)

WH2

WH2: WH2 motif (427 - 453)

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

actin nucleation-promoting factor WAS

wiskott-Aldrich syndrome protein

eczema-thrombocytopenia

WAS 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
种属间
WAS P42768 espF(U) Escherichia coli O157:H7 P0DJ89 18650809
种属间
WAS P42768 espF(U) Escherichia coli O157:H7 P0DJ89
NMR
18650809
种属间
WAS P42768 espF(U) Escherichia coli O157:H7 P0DJ89
GMS
18650809
种属内
WAS P42768 SNX33 Homo sapiens Q8WV41 19487689
种属内
WAS P42768 SORBS2 Homo sapiens O94875 25416956
种属内
WAS P42768 SORBS2 Homo sapiens O94875 25416956
种属内
WAS P42768 HCK Homo sapiens P08631 19234535
种属内
WAS P42768 HCK Homo sapiens P08631 12029088
种属内
WAS P42768 HCK Homo sapiens P08631 19234535
种属内
WAS P42768 WIPF1 Homo sapiens O43516
Y2H
21988832
种属内
WAS P42768 WIPF1 Homo sapiens O43516 19805221
种属内
WAS P42768 WIPF1 Homo sapiens O43516
Y2H
10202051
种属内
WAS P42768 WIPF1 Homo sapiens O43516 10202051
种属内
WAS P42768 WIPF1 Homo sapiens O43516
Y2H
9405671
种属内
WAS P42768 WIPF1 Homo sapiens O43516 9405671
种属内
WAS P42768 WIPF1 Homo sapiens O43516
Y2H
12591280
种属内
WAS P42768 WIPF1 Homo sapiens O43516 9405671
种属内
WAS P42768 WIPF1 Homo sapiens O43516 25416956
种属内
WAS P42768 WIPF1 Homo sapiens O43516 12591280
种属内
WAS P42768 WIPF1 Homo sapiens O43516
Y2H
19817875
种属内
WAS P42768 WIPF1 Homo sapiens O43516 19817875
种属间
WAS P42768 Hck Mus musculus P08103 12235133
种属内
WAS P42768 NCK2 Homo sapiens O43639 25416956
种属内
WAS P42768 NCK2 Homo sapiens O43639 25416956
种属内
WAS P42768 UBASH3A Homo sapiens P57075-2 32296183
种属内
WAS P42768 ABI3 Homo sapiens Q9P2A4 25416956
种属内
WAS P42768 ABI3 Homo sapiens Q9P2A4
Y2H
21516116
种属内
WAS P42768 ABI3 Homo sapiens Q9P2A4 25416956
种属内
WAS P42768 APPBP2 Homo sapiens Q92624 25416956
种属内
WAS P42768 SNX9 Homo sapiens Q9Y5X1 19487689
种属内
WAS P42768 CDC42 Homo sapiens P60953 20936779
种属内
WAS P42768 CDC42 Homo sapiens P60953
CD
9660763
种属内
WAS P42768 CDC42 Homo sapiens P60953 8625410
种属内
WAS P42768 CDC42 Homo sapiens P60953
NMR
9660763
种属内
WAS P42768 CDC42 Homo sapiens P60953 9422512
种属内
WAS P42768 CDC42 Homo sapiens P60953 15361624
种属内
WAS P42768 CDC42 Homo sapiens P60953 9660763
种属内
WAS P42768 TOP1 Homo sapiens P11387 29248492
种属内
WAS P42768 TOP1 Homo sapiens P11387 29248492
种属间: 跨种属相互作用 种属内: 同种属相互作用

WAS 抗体

目录号 产品名 应用 反应物种
HY-P82794 WAS Antibody (YA2539) WB, ICC/IF, IP, FC Human, Mouse, Rat

关联疾病

疾病名称 别名
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 1

Xlt

THC1

Thrombocytopenia, X-Linked

Thrombocytopenia, X-Linked, Intermittent

X-Linked Thrombocytopenia

X-Linked Thrombocytopenia With Normal Platelets

Thc

Thrombocytopenia, X-Linked, 1

Thrombocytopenia X-Linked

Thrombocytopenia X-Linked 1

Neutropenia, Severe Congenital, X-Linked

X-Linked Severe Congenital Neutropenia

XLN

SCNX

Severe Congenital Neutropenia X-Linked

Neutropenia, Congenital, Severe, X-Linked

Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos

Neutropenia

Leukopenia

Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2

Aoa2

Ataxia With Oculomotor Apraxia Type 2

Scar1

SCAN2

Ataxia-Oculomotor Apraxia 2

Ataxia-Ocular Apraxia 2

Ataxia-Oculomotor Apraxia Type 2

Scan 2

Spinocerebellar Ataxia With Axonal Neuropathy Type 2

Spinocerebellar Ataxia, Autosomal Recessive 1, Formerly

Scar1, Formerly

Autosomal Recessive Spinocerebellar Ataxia-1

Spinocerebellar Ataxia, Autosomal Recessive, 1

Ataxia-Ocular Apraxia-2

Spinocerebellar Ataxia, Autosomal Recessive 1

Agammaglobulinemia, X-Linked

X-Linked Agammaglobulinemia

XLA

Bruton Type Agammaglobulinemia

Bruton'S Agammaglobulinemia

Bruton-Type Agammaglobulinemia

Agmx1

Imd1

Agammaglobulinemia, X-Linked 1

Btk-Deficiency

Agammaglobulinemia

Hypogammaglobulinemia

Agammaglobulinemia, X-Linked, Type 1

Immunodeficiency 1

Bruton Agammaglobulinemia Tyrosine Kinase Deficiency

Bruton Disease

Bruton'S Agammaglobulinaemia

Bruton'S Sex-Linked Agammaglobulinemia

Bruton'S Type Agammaglobulinemia

Btk Deficiency

Agammaglobulinemia, Btk

Agammaglobulinemia, Bruton Tyrosine Kinase

Congenital Agammaglobulinemia

Immunodeficiency Type 1

X-Linked Agammaglobulinemia Type 1

Dermatitis

Eczema

Skin Inflammation

Inflammatory Dermatosis

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

Leukocyte Adhesion Deficiency, Type I

Leukocyte Adhesion Deficiency

Leukocyte Adhesion Deficiency 1

LAD1

Lad

Lymphocyte Function-Associated Antigen 1 Immunodeficiency

Leukocyte Adhesion Deficiency Type I

Leukocyte Adhesion Deficiency Type 1

Linear Iga Bullous Dermatosis

Linear Iga Dermatosis

Leukocyte-Adhesion Deficiency Syndrome

Lfa1 Immunodeficiency

Congenital Leukocyte Adherence Deficiency

Lad-I

Linear Iga Disease

Leukocyte Adhesion Deficiency Syndrome

Lad 1

Lfa 1 Immunodeficiency

Linear Immunoglobulin A Dermatosis

Leucocyte Adhesion Deficiency Type 1

Leukocyte Adhesion Molecule Deficiency Type 1

Aarskog-Scott Syndrome

Aarskog Syndrome

Faciogenital Dysplasia

Faciodigitogenital Syndrome

AAS

Fgdy

X-Linked Aarskog Syndrome

Intellectual Developmental Disorder, X-Linked, Syndromic 16

Aarskog Syndrome, X-Linked

Intellectual Developmental Disorder, X-Linked Syndromic 16

Greig'S Syndrome

Aarskog Scott Syndrome

Aarskog Disease

Scott Aarskog Syndrome

Facio-Digito-Genital Dysplasia

Faciogenital Dysplasia With Attention Deficit-Hyperactivity Disorder

Aarskog-Scott Syndrome ) Syndrome

Coronin-1a Deficiency
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne

Papa Syndrome

Fra

Familial Recurrent Arthritis

Pyogenic Arthritis, Pyoderma Gangrenosum And Acne

PAPAS

Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome

Pyogenic Arthritis, Pyoderma Gangrenosum, And Severe Cystic Acne

Pyogenic Sterile Arthritis, Pyoderma Gangrenosum And Acne

Immunodeficiency 40

Dock2 Deficiency

IMD40

Immunodeficiency, Type 40

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency

Congenital Combined Immunodeficiency

Syndrome With Combined Immunodeficiency

Combined T And B Cell Immunodeficiency

Combined Immunity Deficiency

Combined Immunodeficiency Syndrome

Combined T-Cell And B-Cell Immunodeficiency

Lymphopenic Agammaglobulinaemia

Blood Platelet Disease

Platelet Disorder

Blood Platelet Disorders

Thrombocytopathy

Platelet Dysfunction

Platelet Disorders

Qualitative Platelet Deficiency

Phagocyte Bactericidal Dysfunction

Phagocytic Dysfunction

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

Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations

Severe Congenital Encephalopathy Due To Mecp2 Mutation

Severe Neonatal-Onset Encephalopathy With Microcephaly

Encephalopathy, Neonatal Severe

Neonatal Severe Encephalopathy Due To Mecp2 Mutations

Mecp2-Related Severe Neonatal Encephalopathy

Methyl-Cytosine Phosphate Guanine Binding Protein 2 Related Severe Neonatal Encephalopathy

Severe Neonatal Encephalopathy Due To Mecp2 Mutations

ENS-MECP2

Encephalopathy, Neonatal, Severe

Granulomatous Disease, Chronic, X-Linked

CGDX

Chronic Granulomatous Disease, X-Linked

X-Linked Chronic Granulomatous Disease

Cgd

Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked

Cdgx

X-Linked Chronic Cytochrome B-Negative Granulomatous Disease

Chronic Granulomatous Disease Cytochrome B-Negative X-Linked

Chronic Granulomatous Disease Cytochrome B-Positive X-Linked

Granulomatous Disease, Chronic, X-Linked, Variant

Blood Coagulation Disease

Blood Coagulation Disorders

Coagulation Protein Disease

Inherited Blood Coagulation Disease

Postpartum Coagulation Defect

Postpartum Coagulation Defect With Delivery

Coagulation Protein Disorders

Puerperal Coagulopathy

Severe Congenital Neutropenia

Congenital Neutropenia

Neutropenia, Severe Congenital

Congenital Agranulocytosis

Infantile Genetic Agranulocytosis

Kostmann Disease

Kostmann'S Agranulocytosis

Kostmann'S Syndrome

Severe Infantile Genetic Neutropenia

Chronic Granulomatous Disease

Cgd

Granulomatous Disease, Chronic

Autosomal Recessive Chronic Granulomatous Disease

X-Linked Chronic Granulomatous Disease

Bridges-Good Syndrome

Congenital Dysphagocytosis

Quie Syndrome

Chronic Septic Granulomatosis

Chronic Granulomatous Disorder

Granulomatous Disease Chronic

Granulomatous Disease, Chronic, X-Linked

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

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
Canis familiaris WAS VGNC VGNC:58886
Macaca mulatta WAS VGNC VGNC:78780
Bos taurus WAS VGNC VGNC:107023
Felis catus WAS VGNC VGNC:67001
Mus musculus WAS MGD MGI:105059
Rattus norvegicus WAS RGD RGD:1563567
Others WAS NCBI