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  2. RASGEF1A - RasGEF domain family member 1A Gene

RASGEF1A - RasGEF domain family member 1A Gene

Homo sapiens

Also known as CG4853

Gene ID: 221002 | Gene type: protein coding

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

RASGEF1A Protein Structure

RasGEF_N

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

RasGEF

RasGEF: RasGEF domain (213 - 411)

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  • 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

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