2. Gene
  3. WHAMM - WASP homolog associated with actin, golgi membranes and microtubules Gene

WHAMM - WASP homolog associated with actin, golgi membranes and microtubules Gene

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

中文名称：与肌动蛋白、高尔基体膜和微管相关的 WASP 同系物

种属: Homo sapiens

同用名: WHDC1; WHAMM1

基因 ID: 123720 | 基因类型: protein coding

关于 WHAMM

Cytogenetic location: 15q25.2 Genomic coordinates (GRCh38): 15:82,809,628-82,836,108 (from NCBI)

This gene has 2 transcripts (splice variants), 192 orthologues and 2 paralogues. Ubiquitous expression in bone marrow (RPKM 8.9), spleen (RPKM 2.9) and 24 other tissues.

功能概要

该基因编码的蛋白质在肌动蛋白成核、高尔基体膜结合和微管结合中发挥作用。编码的蛋白质是一种成核促进因子，可调节肌动蛋白相关蛋白 2/3 复合物。激活的复合物通过与现有肌动蛋白丝结合启动新肌动蛋白丝的生长。编码的蛋白质还在调节从内质网到高尔基复合体的运输和维持中心体附近的高尔基复合体中发挥作用。该基因的四个假基因与该基因位于 15 号染色体的同一臂上。[RefSeq 提供，2013 年 8 月]

This gene encodes a protein that plays a role in actin nucleation, Golgi membrane association and microtubule binding. The encoded protein is a nucleation-promoting factor that regulates the Actin-related protein 2/3 complex. The activated complex initiates growth of new actin filaments by binding to existing actin filaments. The encoded protein also functions in regulation of transport from the endoplasmic reticulum to the Golgi complex and in maintenance of the Golgi complex near the centrosome. Four pseudogenes of this gene are present on the same arm of chromosome 15 as this gene. [provided by RefSeq, Aug 2013]

WHAMM 基因产物(1)

mRNA Protein Name
NM_001080435.3 NP_001073904.1 WASP homolog-associated protein with actin, membranes and microtubules
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 Arp2/3 complex binding IDA
IDA: 通过直接分析推断
23087206 GOA
enables microtubule binding IDA
IDA: 通过直接分析推断
18614018 GOA
enables small GTPase binding IDA
IDA: 通过直接分析推断
23087206 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in actin filament organization IDA
IDA: 通过直接分析推断
18614018 GOA
involved in actin filament organization IMP
IMP: 通过突变表型推断
23087206 GOA
involved in endoplasmic reticulum to Golgi vesicle-mediated transport IDA
IDA: 通过直接分析推断
18614018 GOA
involved in focal adhesion assembly IMP
IMP: 通过突变表型推断
23087206 GOA
involved in lamellipodium assembly IMP
IMP: 通过突变表型推断
23087206 GOA
involved in plasma membrane tubulation IDA
IDA: 通过直接分析推断
18614018 GOA
involved in positive regulation of actin nucleation IDA
IDA: 通过直接分析推断
18614018 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi membrane IDA
IDA: 通过直接分析推断
18614018 GOA
located in endoplasmic reticulum-Golgi intermediate compartment membrane IDA
IDA: 通过直接分析推断
18614018 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
蛋白主名 其他名称

WASP homolog-associated protein with actin, membranes and microtubules

WAS protein homolog associated with actin, golgi membranes and microtubules

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
Galloway-Mowat Syndrome

Galloway Mowat Syndrome

Galloway Syndrome

Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type

Microcephaly Nephrosis Syndrome

Microcephaly, Hiatal Hernia, And Nephrotic Syndrome

Nephrosis Neuronal Dysmigration Syndrome

Microcephaly-Hiatus Hernia-Nephrotic Syndrome

Nephrosis-Neuronal Dysmigration Syndrome
Malignant Otitis Externa

Necrotising Otitis Externa

Pseudomonas Aeruginosa Osteomyelitis Of The Temporal Bone
Prader-Willi Syndrome

Prader-Labhart-Willi Syndrome

PWS

Willi-Prader Syndrome

Prader-Willi Syndrome Due To Translocation

Prader-Willi Syndrome Due To Imprinting Mutation

Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15

Prader Willi Syndrome

Upd(15)Mat
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-RS15814 WHAMM Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta WHAMM VGNC VGNC:97843
Bos taurus WHAMM VGNC VGNC:53957
Canis familiaris WHAMM VGNC VGNC:53253
Rattus norvegicus WHAMM RGD RGD:1563506
Felis catus WHAMM VGNC VGNC:80783
Mus musculus WHAMM MGD MGI:2142282
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