1. Gene
  2. ARHGAP6 - Rho GTPase activating protein 6 Gene

ARHGAP6 - Rho GTPase activating protein 6 Gene

中文名称:Rho GTP 酶激活蛋白 6

种属: Homo sapiens

同用名: RHOGAP6; RHOGAPX-1

基因 ID: 395 | 基因类型: protein coding

关于 ARHGAP6

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:11,137,544-11,665,920 (from NCBI)

This gene has 9 transcripts (splice variants), 269 orthologues and 1 paralogue. Broad expression in prostate (RPKM 12.6), thyroid (RPKM 10.2) and 18 other tissues.

功能概要

该基因编码 rhoGAP 蛋白家族的一个成员,该蛋白在多个细胞过程中在调节质膜上的肌动蛋白聚合中发挥作用。这种蛋白质被认为具有两个独立的功能,一个是对 RhoA 具有特异性的 GTP 酶激活蛋白,另一个是促进肌动蛋白重塑的细胞骨架蛋白。已为该基因发现编码不同亚型的多个可变剪接转录物变体。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of actin polymerization at the plasma membrane during several cellular processes. This protein is thought to have two independent functions, one as a GTPase-activating protein with specificity for RhoA, and another as a cytoskeletal protein that promotes actin remodeling. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ARHGAP6 基因产物(4)

mRNA Protein Name
NM_001287242.2 NP_001274171.1 rho GTPase-activating protein 6 isoform 6
NM_006125.3 NP_006116.2 rho GTPase-activating protein 6 isoform 3
NM_013423.3 NP_038267.1 rho GTPase-activating protein 6 isoform 4
NM_013427.3 NP_038286.2 rho GTPase-activating protein 6 isoform 1
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 phospholipase activator activity IDA
IDA: 通过直接分析推断
18434237 GOA
enables phospholipase binding IPI
IPI: 通过物理相互作用推断
18434237 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of focal adhesion assembly IMP
IMP: 通过突变表型推断
10699171 GOA
involved in negative regulation of stress fiber assembly IMP
IMP: 通过突变表型推断
10699171 GOA
involved in positive regulation of phospholipase activity IDA
IDA: 通过直接分析推断
18434237 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IMP
IMP: 通过突变表型推断
10699171 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

ARHGAP6 蛋白结构

RhoGAP

RhoGAP: RhoGAP domain (411 - 569)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 974 a.a.
蛋白主名 其他名称

rho GTPase-activating protein 6

Rho-type GTPase-activating protein RhoGAPX-1

关联疾病

疾病名称 别名
Amelogenesis Imperfecta, Type Ie

Aih1

Amelogenesis Imperfecta Type 1e

AI1E

Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 1

Amelogenesis Imperfecta, Hypomaturation Type, With Snow-Capped Teeth

Enamel Hypoplasia, X-Linked

Amelogenesis Imperfecta Type Ie

Amelogenesis Imperfecta Hypoplastic/Hypomaturation X-Linked 1

Enamel Hypoplasia X-Linked

Amelogenesis Imperfecta, X-Linked 1

Amelogenesis Imperfecta, Type 1e

Amelogenesis Imperfecta Hypomaturationtype With Snow-Capped Teeth

X-Linked Amelogenesis Imperfecta 1

X-Linked Amelogenesis Imperfecta Hypoplastic/Hypomaturation 1

X-Linked Enamel Hypoplasia

Amelogenesis Imperfecta X-Linked 1

Amelogenesis Imperfecta 1e

Amelogenesis Imperfecta, Hypoplastic/Hypomaturation Type 1e

Amelogenesis Imperfecta Hypomaturation Type With Snow-Capped Teeth

Xai

X-Linked Amelogenesis Imperfecta

Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2

Amelogenesis Imperfecta

Ai

Congenital Enamel Hypoplasia

Al - [Amelogenesis Imperfecta]

Linear Skin Defects With Multiple Congenital Anomalies 1

Midas Syndrome

Mcops7

Mls Syndrome

Microphthalmia, Syndromic 7

Microphthalmia With Linear Skin Defects Syndrome

Microphthalmia With Linear Skin Defects

Microphthalmia-Dermal Aplasia-Sclerocornea Syndrome

Syndromic Microphthalmia Type 7

LSDMCA1

Mls

Microphthalmia, Dermal Aplasia, And Sclerocornea

Microphthalmia With Linear Skin Defect Syndrome

Syndromic Microphthalmia 7

Linear Skin Defects With Multiple Congenital Anomalies

Microphthalmia, Dermal Aplasia, Sclerocornea Syndrome

Microphthalmia Dermal Aplasia And Sclerocornea Syndrome

Micropthalmia Syndromic 7

Microphthalmia Syndromic 7

Microphthalmia With Linear Skin Lesions Syndrome

Syndromic Microphthalmia-7

Microphthalmia, Dermal Aplasia And Sclerocornea

Microphthalmia, Syndromic, 7

Midas

Microphthalmia

Microphthalmos

Isolated Anophthalmia-Microphthalmia Syndrome

Isolated Microphthalmia-Anophthalmia-Coloboma

Simple Microphthalmos

Clinical Anophthalmia

Isolated Anophthalmia - Microphthalmia

Isolated Pure Microphthalmia

Mac Spectrum

Microphthalmia-Anophthalmia-Coloboma Spectrum

Primitive Anophthalmia

Globe Of Eye Small

Small Eyeball

Hypoplasia Of Eye

Isolated Nanophthalmos

Rudimentary Eye

Dysplasia Of Eye

Linear Skin Defects With Multiple Congenital Anomalies 3

LSDMCA3

Linear Skin Defects With Cardiomyopathy And Other Congenital Anomalies

Skin Defects, Linear, With Multiple Congenital Anomalies, Type 3

Orbital Cyst
Sclerocornea

Isolated Congenital Sclerocornea

Diffuse Gastric Cancer

Hereditary Diffuse Gastric Adenocarcinoma

Hereditary Diffuse Gastric Cancer

Signet Cell Adenocarcinoma

Signet Ring Cell Carcinoma

Signet Ring Cell Gastric Carcinoma

Signet Ring Gastric Carcinoma

Fdgc

Familial Diffuse Cancer Of Stomach

Familial Diffuse Gastric Cancer

Gastric Cancer, Familial Diffuse

Gastric Cancer, Hereditary Diffuse

Hdgc

Hereditary Diffuse Cancer Of Stomach

Diffuse Gastric Cancer Syndrome

Cancer, Gastric, Diffuse

Carcinoma, Signet Ring Cell

Gastric Signet Ring Carcinoma

Diffuse Gastric And Lobular Breast Cancer Syndrome

Hereditary Diffuse Gastric Cancer

HDGC

LBC

Familial Diffuse Gastric Cancer

Fdgc

Hereditary Diffuse Gastric Adenocarcinoma

Breast Cancer, Lobular

Gastric Cancer, Familial Diffuse, And Cleft Lip With Or Without Cleft Palate

DGLBC

Gastric Cancer, Hereditary Diffuse

Gastric Cancer, Familial Diffuse Breast Cancer, Lobular

Diffuse Gastric And Lobular Breast Cancer Syndrome With Or Without Cleft Lip And/Or Palate

E-Cadherin-Associated Hereditary Gastric Cancer

Familial Diffuse Cancer Of Stomach

Hereditary Diffuse Cancer Of Stomach

Gastric Cancer Familial Diffuse

Gastric Cancer Familial Diffuse And Cleft Lip With Or Without Cleft Palate

Cancer, Gastric, Hereditary Diffuse

Gillespie Syndrome

GLSP

Aniridia, Cerebellar Ataxia And Mental Deficiency

Aniridia Cerebellar Ataxia Mental Deficiency

Aniridia, Cerebellar Ataxia, And Mental Retardation

Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome

Aniridia-Cerebellar Ataxia-Intellectual Disability

Aniridia-Cerebellar Ataxia-Mental Deficiency

Partial Aniridia-Cerebellar Ataxia-Oligophrenia

Aniridia, Cerebellar Ataxia, And Intellectual Disability

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 ARHGAP6 MGD MGI:1196332
Bos taurus ARHGAP6 VGNC VGNC:26099
Canis familiaris ARHGAP6 VGNC VGNC:38068
Macaca mulatta ARHGAP6 VGNC VGNC:70009
Felis catus ARHGAP6 VGNC VGNC:68123
Rattus norvegicus ARHGAP6 RGD RGD:2323364