1. Gene
  2. RALGDS - ral guanine nucleotide dissociation stimulator Gene

RALGDS - ral guanine nucleotide dissociation stimulator Gene

中文名称:鸟嘌呤核苷酸解离刺激物

种属: Homo sapiens

同用名: RGF; RGDS; RalGEF

基因 ID: 5900 | 基因类型: protein coding

关于 RALGDS

Cytogenetic location: 9q34.13-q34.2 Genomic coordinates (GRCh38): 9:133,097,722-133,149,210 (from NCBI)

This gene has 15 transcripts (splice variants), 329 orthologues, 24 paralogues and is associated with 69 phenotypes. Ubiquitous expression in skin (RPKM 22.8), gall bladder (RPKM 22.0) and 25 other tissues.

功能概要

鸟嘌呤核苷酸解离刺激物 (GDS,或交换因子) ,如 RALGDS,是 Ras 相关 GTP 酶的效应物 (参见 MIM 190020) ,参与各种细胞过程的信号传导。[OMIM 提供,2010 年 11 月]

Guanine nucleotide dissociation stimulators (GDSs, or exchange factors), such as RALGDS, are effectors of Ras-related GTPases (see MIM 190020) that participate in signaling for a variety of cellular processes.[supplied by OMIM, Nov 2010]

RALGDS 基因产物(5)

mRNA Protein Name
NM_001042368.3 NP_001035827.1 ral guanine nucleotide dissociation stimulator isoform 2
NM_001271774.2 NP_001258703.1 ral guanine nucleotide dissociation stimulator isoform 3
NM_001271775.2 NP_001258704.1 ral guanine nucleotide dissociation stimulator isoform 4
NM_001271776.2 NP_001258705.1 ral guanine nucleotide dissociation stimulator isoform 5
NM_006266.4 NP_006257.1 ral guanine nucleotide dissociation stimulator isoform 1
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables GTPase regulator activity IDA
IDA: 通过直接分析推断
7972015 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
20936779 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in brush border IDA
IDA: 通过直接分析推断
22797597 GOA
located in cytosol IDA
IDA: 通过直接分析推断
22797597 GOA
located in nucleus IDA
IDA: 通过直接分析推断
22797597 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

RALGDS 蛋白结构

RasGEF_N

RasGEF_N: RasGEF N-terminal motif (115 - 225)

RasGEF

RasGEF: RasGEF domain (385 - 597)

RA

RA: Ras association (RalGDS/AF-6) domain (798 - 884)

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

ral guanine nucleotide dissociation stimulator

ral guanine nucleotide exchange factor

RALGDS 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
RALGDS Q12967 HRAS Homo sapiens P01112
PLA
25241761
种属内
RALGDS Q12967 RAP1B Homo sapiens P61224 22705156
种属内
RALGDS Q12967 RAP1B Homo sapiens P61224
Y2H
21988832
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
Malignant Otitis Externa

Necrotising Otitis Externa

Pseudomonas Aeruginosa Osteomyelitis Of The Temporal Bone

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Cardiofaciocutaneous Syndrome 1

Cardiofaciocutaneous Syndrome

Cfc Syndrome

Cardio-Facio-Cutaneous Syndrome

CFC1

Cfcs

Cardio-Facial-Cutaneous Syndrome

Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities And Growth Failure

Cardiofaciocutaneous Syndrome, Type 1

Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

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 RALGDS RGD RGD:3533
Mus musculus RALGDS MGD MGI:107485
Macaca fascicularis RALGDS NCBI NCBI:102121408
Others RALGDS NCBI