1. Gene
  2. RASGEF1A - RasGEF domain family member 1A Gene

RASGEF1A - RasGEF domain family member 1A Gene

中文名称:RasGEF 域家族成员 1A

种属: Homo sapiens

同用名: CG4853

基因 ID: 221002 | 基因类型: protein coding

关于 RASGEF1A

Cytogenetic location: 10q11.21 Genomic coordinates (GRCh38): 10:43,194,535-43,267,065 (from NCBI)

This gene has 5 transcripts (splice variants), 125 orthologues and 24 paralogues. Broad expression in brain (RPKM 7.0), bone marrow (RPKM 2.1) and 17 other tissues.

功能概要

启用胍基核苷酸交换因子活性。参与细胞迁移和 Ras 蛋白信号转导的正向调节。预测位于胞质溶胶中。 [由基因组资源联盟提供,2022 年 4 月]

Enables guanyl-nucleotide exchange factor activity. Involved in cell migration and positive regulation of Ras protein signal transduction. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]

RASGEF1A 基因产物(2)

mRNA Protein Name
NM_001282862.2 NP_001269791.1 ras-GEF domain-containing family member 1A isoform 1
NM_145313.4 NP_660356.2 ras-GEF domain-containing family member 1A 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 guanyl-nucleotide exchange factor activity IDA
IDA: 通过直接分析推断
17121879 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell migration IDA
IDA: 通过直接分析推断
17121879 GOA
involved in positive regulation of Ras protein signal transduction IDA
IDA: 通过直接分析推断
17121879 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

RASGEF1A 蛋白结构

RasGEF_N

RasGEF_N: RasGEF N-terminal motif (46 - 140)

RasGEF

RasGEF: RasGEF domain (213 - 411)

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

ras-GEF domain-containing family member 1A

CG4853 gene product

关联疾病

疾病名称 别名
Intrahepatic Cholangiocarcinoma

Cholangiocarcinoma

Intrahepatic Bile Duct Carcinoma

Peripheral Cholangiocarcinoma

Peripheral Intrahepatic Cholangiocarcinoma

Adenocarcinoma Of Intra-Hepatic Bile Ducts

Cholangiocarcinoma, Unspecified Site

Cholangiocarcinoma Of Liver

Cholangiocarcinoma

Cholangiocarcinoma, Susceptibility To

Extrahepatic Cholangiocarcinoma

Intrahepatic Cholangiocarcinoma

Chlc

Chlc, Susceptibility To

Cc

Cholangiocarcinoma Of Biliary Tract

Cholangiocellular Carcinoma

Distal Cholangiocarcinoma

Perihilar Cholangiocarcinoma

Bile Duct Cancer

Cca

Adult Primary Cholangiocellular Carcinoma

Bile Duct Carcinoma

Deafness, Autosomal Recessive 97

DFNB97

Autosomal Recessive Nonsyndromic Deafness 97

Autosomal Recessive Deafness 97

Deafness, Autosomal Recessive, 97

Deafness, Autosomal Recessive, Type 97

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy

Catecholaminergic Polymorphic Ventricular Tachycardia 1

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

CPVT1

Ventricular Tachycardia, Stress-Induced Polymorphic

Vtsip

Bidirectional Tachycardia

Stress-Induced Polymorphic Ventricular Tachycardia

Cvpt1

Double Tachycardia Induced By Catecholamines

Malignant Paroxysmal Ventricular Tachycardia

Multifocal Ventricular Premature Beats

Paroxysmal Ventricular Fibrillation

Syncopal Paroxysmal Tachycardia

Syncopal Tachyarythmia

Ventricular Tachycardia Catecholaminergic Polymorphic 1

Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 1

Multifocal Pvcs

Multifocal Premature Ventricular Beats

Paroxysmal Familial Ventricular Fibrillation

Catecholaminergic Polymorphic Ventricular Tachycardia Type 1

Hirschsprung Disease 1

Hirschsprung Disease

Aganglionic Megacolon

Hscr

Hirschsprung'S Disease

Congenital Megacolon

Congenital Intestinal Aganglionosis

Colonic Aganglionosis

Hirschsprung Disease, Susceptibility To, 1

Hirschsprung Disease, Protection Against

HSCR1

Mgc

Pelvirectal Achalasia

Total Intestinal Aganglionosis

Megacolon, Aganglionic

Macrocolon

Hscr 1

Hirschsprung Disease Type 1

Hirschsprung Disease, Type 1

Congenital Dilatation Of Colon

Aganglionosis

Congenital Aganglionic Megacolon

Aganglionosis Of Colon

Bowel Aganglionosis

Colon Aganglionosis

Hirschsprung Megacolon

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 RASGEF1A MGD MGI:1917977
Macaca mulatta RASGEF1A VGNC VGNC:76525
Rattus norvegicus RASGEF1A RGD RGD:1305836
Canis familiaris RASGEF1A VGNC VGNC:45367
Felis catus RASGEF1A VGNC VGNC:97600
Bos taurus RASGEF1A VGNC VGNC:33743