1. Gene
  2. ARHGEF18 - Rho/Rac guanine nucleotide exchange factor 18 Gene

ARHGEF18 - Rho/Rac guanine nucleotide exchange factor 18 Gene

中文名称:Rho/Rac 鸟嘌呤核苷酸交换因子 18

种属: Homo sapiens

同用名: RP78; SA-RhoGEF; p114RhoGEF; P114-RhoGEF

基因 ID: 23370 | 基因类型: protein coding

关于 ARHGEF18

Cytogenetic location: 19p13.2 Genomic coordinates (GRCh38): 19:7,348,937-7,479,989 (from NCBI)

This gene has 7 transcripts (splice variants), 271 orthologues, 8 paralogues and is associated with 3 phenotypes. Ubiquitous expression in spleen (RPKM 12.9), lymph node (RPKM 11.3) and 25 other tissues.

功能概要

Rho GTP 酶是调节广泛细胞功能的 GTP 结合蛋白。这些细胞过程包括细胞骨架重排、基因转录、细胞生长和运动。 Rho GTP 酶的激活受鸟嘌呤核苷酸交换因子 (GEF) 的直接控制。该基因编码的蛋白质是一种鸟嘌呤核苷酸交换因子,属于 Rho GTPase GEF 家族。家族成员有一个共同特征,即 Dbl (DH) 同源结构域后跟 pleckstrin (PH) 同源结构域。已经鉴定出编码不同亚型的选择性剪接转录物变体。[RefSeq 提供,2018 年 11 月]

Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GEF family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2018]

ARHGEF18 基因产物(4)

mRNA Protein Name
NM_001130955.2 NP_001124427.2 rho guanine nucleotide exchange factor 18 isoform b
NM_001367823.1 NP_001354752.1 rho guanine nucleotide exchange factor 18 isoform c
NM_001367824.1 NP_001354753.1 rho guanine nucleotide exchange factor 18 isoform a
NM_015318.4 NP_056133.2 rho guanine nucleotide exchange factor 18 isoform a
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 guanyl-nucleotide exchange factor activity IDA
IDA: 通过直接分析推断
14512443 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25753039 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within actin cytoskeleton organization IDA
IDA: 通过直接分析推断
14512443 GOA
involved in negative regulation of stress fiber assembly IMP
IMP: 通过突变表型推断
25753039 GOA
involved in protein localization to cell-cell junction IMP
IMP: 通过突变表型推断
25753039 GOA
acts upstream of or within regulation of cell shape IDA
IDA: 通过直接分析推断
14512443 GOA
acts upstream of or within small GTPase-mediated signal transduction IDA
IDA: 通过直接分析推断
14512443 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in apical part of cell IDA
IDA: 通过直接分析推断
22006950 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

ARHGEF18 蛋白结构

RhoGEF

RhoGEF: RhoGEF domain (263 - 454)

PH

PH: PH domain (498 - 597)

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  • 1173 a.a.
蛋白主名 其他名称

rho guanine nucleotide exchange factor 18

114 kDa Rho-specific guanine nucleotide exchange factor

ARHGEF18 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
种属内
ARHGEF18 Q6ZSZ5 AKAP13 Homo sapiens Q12802
Anti Tag CoIP
35271311
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
Retinitis Pigmentosa 78

RP78

Retinitis Pigmentosa, Type 78

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Retinitis Pigmentosa 83

RP83

Retinitis Pigmentosa, Type 83

Retinitis Pigmentosa 41

RP41

Retinal Degeneration, Autosomal Recessive, Prominin-Related

Retinal Degeneration Autosomal Recessive Prominin-Related

Retinitis Pigmentosa-41

Retinitis Pigmentosa, Type 41

Retinitis Pigmentosa 86

RP86

Retinitis Pigmentosa, Type 86

Retinal Degeneration

Degeneration Of Retina

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

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
Rattus norvegicus ARHGEF18 RGD RGD:1311448
Bos taurus ARHGEF18 VGNC VGNC:106426
Mus musculus ARHGEF18 MGD MGI:2142567