1. Gene
  2. ARHGAP8 - Rho GTPase activating protein 8 Gene

ARHGAP8 - Rho GTPase activating protein 8 Gene

中文名称:Rho GTP 酶激活蛋白 8

种属: Homo sapiens

同用名: PP610; BPGAP1

基因 ID: 23779 | 基因类型: protein coding

关于 ARHGAP8

Cytogenetic location: 22q13.31 Genomic coordinates (GRCh38): 22:44,752,575-44,862,784 (from NCBI)

This gene has 12 transcripts (splice variants), 167 orthologues and 1 paralogue. Broad expression in kidney (RPKM 6.0), thyroid (RPKM 5.9) and 18 other tissues.

功能概要

该基因编码 RHOGAP 家族的一个成员。 GAP (激活 GTP 酶) 家族蛋白参与调节细胞骨架变化所涉及的细胞过程的信号通路。 GAP 蛋白根据细胞中的 GTP:GDP 比率在活性 (GTP 结合) 和非活性 (GDP 结合) 状态之间交替。该家族成员是一种多结构域蛋白,可促进 ERK 激活和细胞运动。可变剪接导致多个转录本变体。从上游富脯氨酸 5,肾 (PRR5) 基因到该基因的通读转录本也存在,这导致最初将 PRR5 和 ARHGAP8 描述为单个基因。[RefSeq 提供,2010 年 11 月]

This gene encodes a member of the RHOGAP family. GAP (GTPase-activating) family proteins participate in signaling pathways that regulate cell processes involved in cytoskeletal changes. GAP proteins alternate between an active (GTP-bound) and inactive (GDP-bound) state based on the GTP:GDP ratio in the cell. This family member is a multidomain protein that functions to promote ERK activation and cell motility. Alternative splicing results in multiple transcript variants. Read-through transcripts from the upstream proline rich 5, renal (PRR5) gene into this gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010]

ARHGAP8 基因产物(3)

mRNA Protein Name
NM_001017526.2 NP_001017526.1 rho GTPase-activating protein 8 isoform 1
NM_001198726.2 NP_001185655.1 rho GTPase-activating protein 8 isoform 3
NM_181335.3 NP_851852.2 rho GTPase-activating protein 8 isoform 2
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables GTPase activator activity IDA
IDA: 通过直接分析推断
20179103 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
20179103 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of ERK1 and ERK2 cascade IDA
IDA: 通过直接分析推断
20179103 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

ARHGAP8 蛋白结构

CRAL_TRIO_2

CRAL_TRIO_2: Divergent CRAL/TRIO domain (23 - 196)

RhoGAP

RhoGAP: RhoGAP domain (241 - 387)

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

rho GTPase-activating protein 8

BCH domain-containing Cdc42GAP-like protein

关联疾病

疾病名称 别名
Cerebellar Ataxia, Cayman Type

Cayman Type Cerebellar Ataxia

Ataxia, Cerebellar, Cayman Type

ATCAY

Cayman Cerebellar Ataxia

Cayman Ataxia

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 ARHGAP8 MGD MGI:1920417
Rattus norvegicus ARHGAP8 RGD RGD:1303143