1. Gene
  2. ARHGAP4 - Rho GTPase activating protein 4 Gene

ARHGAP4 - Rho GTPase activating protein 4 Gene

中文名称:Rho GTP 酶激活蛋白 4

种属: Homo sapiens

同用名: C1; RGC1; p115; SrGAP4; RhoGAP4

基因 ID: 393 | 基因类型: protein coding

关于 ARHGAP4

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:153,907,378-153,926,264 (from NCBI)

This gene has 25 transcripts (splice variants), 248 orthologues and 5 paralogues. Broad expression in spleen (RPKM 47.8), bone marrow (RPKM 45.7) and 16 other tissues.

功能概要

该基因编码 rhoGAP 蛋白家族的成员,该蛋白在属于 Ras 超家族的小 GTP 结合蛋白的调节中发挥作用。由大鼠直系同源基因编码的蛋白质定位于高尔基复合体,可以重新分布到微管。大鼠蛋白在体外刺激某些 Rho GTP 酶的活性。在肾源性尿崩症患者中发现了该基因和邻近基因的基因组缺失。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2009 年 9 月]

This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins belonging to the Ras superfamily. The protein encoded by the orthologous gene in rat is localized to the Golgi complex and can redistribute to microtubules. The rat protein stimulates the activity of some Rho GTPases in vitro. Genomic deletions of this gene and a neighboring gene have been found in patients with nephrogenic diabetes insipidus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

ARHGAP4 基因产物(2)

mRNA Protein Name
NM_001164741.2 NP_001158213.1 rho GTPase-activating protein 4 isoform 1
NM_001666.5 NP_001657.3 rho GTPase-activating protein 4 isoform 2
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 identical protein binding IPI
IPI: 通过物理相互作用推断
26365803 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16417406 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

ARHGAP4 蛋白结构

FCH

FCH: Fes/CIP4, and EFC/F-BAR homology domain (23 - 124)

RhoGAP

RhoGAP: RhoGAP domain (521 - 669)

SH3_1

SH3_1: SH3 domain (752 - 797)

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  • 946 a.a.
蛋白主名 其他名称

rho GTPase-activating protein 4

Rho-GAP hematopoietic protein C1

关联疾病

疾病名称 别名
Nephrogenic Diabetes Insipidus

Vasopressin-Resistant Diabetes Insipidus

Diabetes Insipidus, Nephrogenic

Diabetes Insipidus Nephrogenic

Congenital Nephrogenic Diabetes Insipidus

Adh Resistant Diabetes Insipidus

Diabetes Insipidus Nephrogenic X-Linked

Diabetes Insipidus Nephrogenic Type 1

Adh-Resistant Diabetes Insipidus

Diabetes Insipidus Renalis

Ndi

Renal Diabetes Insipidus

Familial Nephrogenic Diabetes

Antidiuretic-Hormone-Resistant Diabetes Insipidus

Adiuretin-Resistant Diabetes Insipidus

Ndi - [Nephrogenic Diabetes Insipidus]

Diabetes Tenuifluus

Adh - [Antidiuretic-Hormone] Resistant Diabetes Insipidus

Hereditary Nephrogenic Diabetes Insipidus

Familial Nephrogenic Diabetes Insipidus

Primary Nephrogenic Diabetes Insipidus

Diabetes Insipidus
X-Linked Nephrogenic Diabetes Insipidus

Nephrogenic Diabetes Insipidus Type 1

Doid:0081060

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
Mus musculus ARHGAP4 MGD MGI:2159577
Rattus norvegicus ARHGAP4 RGD RGD:628901
Felis catus ARHGAP4 VGNC VGNC:68113
Canis familiaris ARHGAP4 VGNC VGNC:38063
Bos taurus ARHGAP4 VGNC VGNC:26095
Macaca mulatta ARHGAP4 VGNC VGNC:70007