RASGEF1A - RasGEF domain family member 1A Gene

Also Known as CG4853

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 221002

About 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.

Summary

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 Products (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

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables guanyl-nucleotide exchange factor activity IDA
IDA: Inferred from direct assay
17121879 GOA
Biological Process GO Annotation Evidence References Source
involved in cell migration IDA
IDA: Inferred from direct assay
17121879 GOA
involved in positive regulation of Ras protein signal transduction IDA
IDA: Inferred from direct assay
17121879 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RASGEF1A Protein Structure

RasGEF_N

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

RasGEF

RasGEF: RasGEF domain (213 - 411)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 481 a.a.
Protein Preferred Names Protein Names

ras-GEF domain-containing family member 1A

  • CG4853 gene product

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS11688 RASGEF1A Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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
Others RASGEF1A NCBI