2. Gene
  3. WASF1 - WASP family member 1 Gene

WASF1 - WASP family member 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：WASP 家族成员 1

种属: Homo sapiens

同用名: WAVE; SCAR1; WAVE1; NEDALVS

基因 ID: 8936 | 基因类型: protein coding

关于 WASF1

Cytogenetic location: 6q21 Genomic coordinates (GRCh38): 6:110,099,819-110,179,670 (from NCBI)

This gene has 10 transcripts (splice variants), 223 orthologues, 2 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 38.3), testis (RPKM 35.2) and 8 other tissues.

功能概要

由该基因编码的蛋白质是 Wiskott-Aldrich 综合征蛋白 (WASP) 家族的成员，在 Rac (Rho 家族小 GTP 酶) 下游调节膜皱褶所需的肌动蛋白细胞骨架方面起着关键作用。它已被证明与肌动蛋白成核核心 Arp2/3 复合物相关联，同时在体外增强肌动蛋白聚合。 Wiskott-Aldrich 综合征是一种免疫系统疾病，可能是由于肌动蛋白细胞骨架调节缺陷所致。已为该基因发现了编码相同蛋白质的多个可变剪接转录物变体。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene, a member of the Wiskott-Aldrich syndrome protein (WASP)-family, plays a critical role downstream of Rac, a Rho-family small GTPase, in regulating the actin Cytoskeleton required for membrane ruffling. It has been shown to associate with an actin nucleation core Arp2/3 complex while enhancing actin polymerization in vitro. Wiskott-Aldrich syndrome is a disease of the immune system, likely due to defects in regulation of actin Cytoskeleton. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

WASF1 基因产物(4)

mRNA Protein Name
NM_001024934.2 NP_001020105.1 actin-binding protein WASF1
NM_001024935.2 NP_001020106.1 actin-binding protein WASF1
NM_001024936.2 NP_001020107.1 actin-binding protein WASF1
NM_003931.3 NP_003922.1 actin-binding protein WASF1
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 protein binding IPI
IPI: 通过物理相互作用推断
9843499 GOA
enables protein kinase A binding IPI
IPI: 通过物理相互作用推断
25097019 GOA
contributes to small GTPase binding IMP
IMP: 通过突变表型推断
21107423 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Rac protein signal transduction IMP
IMP: 通过突变表型推断
21107423 GOA
involved in actin cytoskeleton organization IMP
IMP: 通过突变表型推断
29961568 GOA
involved in lamellipodium morphogenesis IMP
IMP: 通过突变表型推断
29961568 GOA
involved in mitochondrion organization IMP
IMP: 通过突变表型推断
29961568 GOA
involved in positive regulation of Arp2/3 complex-mediated actin nucleation IMP
IMP: 通过突变表型推断
21107423 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of SCAR complex IMP
IMP: 通过突变表型推断
21107423 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
25097019 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

WASF1 蛋白结构

WH2

WH2: WH2 motif (495 - 520)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 559 a.a.
蛋白主名 其他名称

actin-binding protein WASF1

WAS protein family member 1

WASF1 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
Intra WASF1 Q92558 CCDC196 Homo sapiens A0A1B0GWI1
Y2H Array
32296183
Intra WASF1 Q92558 CCDC196 Homo sapiens A0A1B0GWI1
Y2H Prey Pooling
32296183
Intra WASF1 Q92558 ING5 Homo sapiens Q8WYH8
Y2H Prey Pooling
32296183
Intra WASF1 Q92558 ING5 Homo sapiens Q8WYH8
Y2H Array
32296183
Intra WASF1 Q92558 BAIAP2 Homo sapiens Q9UQB8
Y2H
11130076
Intra WASF1 Q92558 HSF2BP Homo sapiens O75031
Y2H Array
32296183
Intra WASF1 Q92558 HSF2BP Homo sapiens O75031
Y2H Prey Pooling
32296183
Intra WASF1 Q92558 PFN1 Homo sapiens P07737
Pull Down
9843499
Intra WASF1 Q92558 TRIP10 Homo sapiens Q15642
Y2H Array
25416956
Intra WASF1 Q92558 TRIP10 Homo sapiens Q15642
Y2H Prey Pooling
25416956
Intra WASF1 Q92558 ABI3 Homo sapiens Q9P2A4
Validated Y2H
32296183
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
Neurodevelopmental Disorder With Absent Language And Variable Seizures

NEDALVS

Ito-Raymond Syndrome
Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder
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
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
Histrionic Personality Disorder
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS15742 WASF1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus WASF1 RGD RGD:1561954
Bos taurus WASF1 VGNC VGNC:36865
Macaca mulatta WASF1 VGNC VGNC:83970
Mus musculus WASF1 MGD MGI:1890563
Canis familiaris WASF1 VGNC VGNC:48333
Felis catus WASF1 VGNC VGNC:67002
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