Gene: RAB3GAP1
Alternate names for this Gene: P130|RAB3GAP|RAB3GAP130|WARBM1
Gene Summary: This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate splicing results in multiple transcript variants.
Gene is located in Chromosome: 2
Location in Chromosome : 2q21.3
Description of this Gene: RAB3 GTPase activating protein catalytic subunit 1
Type of Gene: protein-coding
rs7570971 in
RAB3GAP1 gene and
Alcohol consumption
PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.
rs7570971 in
RAB3GAP1 gene and
Body mass index
PMID 26426971 2015 The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.
PMID 25673413 2015 Genetic studies of body mass index yield new insights for obesity biology.
PMID 30108127 2018 A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.
rs7570971 in
RAB3GAP1 gene and
Diabetes Mellitus, Non-Insulin-Dependent
PMID 23209189 2013 Genome-wide association study for type 2 diabetes in Indians identifies a new susceptibility locus at 2q21.
rs1282248700 in
RAB3GAP1 gene and
Dysmorphic features
PMID 23420520 2013 Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.
PMID 20512159 2010 New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.
PMID 23176487 2012 RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes.
PMID 15696165 2005 Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.
rs16831315 in
RAB3GAP1 gene and
Leukemia, Myelocytic, Acute
PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
rs7570971 in
RAB3GAP1 gene and
Low density lipoprotein cholesterol measurement
PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.
rs1553437083 in
RAB3GAP1 gene and
Martsolf syndrome
PMID 23420520 2013 Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.
rs1282248700 in
RAB3GAP1 gene and
Multiple congenital anomalies
PMID 15696165 2005 Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.
PMID 23176487 2012 RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes.
PMID 20512159 2010 New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.
PMID 23420520 2013 Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.
rs61369044 in
RAB3GAP1 gene and
Serum albumin measurement
PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
rs7570971 in
RAB3GAP1 gene and
Serum total cholesterol measurement
PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.
PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
rs1553444935 in
RAB3GAP1 gene and
Warburg Sjo Fledelius syndrome
PMID 26421802 2016 Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome.