Target:Rab 3 GAP p130
Gene Name:RAB3GAP1
Protein Name:Rab3 GTPase-activating protein catalytic subunit
Human Gene Id:22930
Human Swiss Prot No:Q15042
Mouse Swiss Prot No:Q80UJ7
Immunogen:The antiserum was produced against synthesized peptide derived from human RAB3GAP1. AA range:538-587
Specificity:Rab 3 GAP p130 Polyclonal Antibody detects endogenous levels of Rab 3 GAP p130 protein.
Formulation:Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Source:Polyclonal, Rabbit,IgG
Dilution:WB 1:500 - 1:2000. IHC 1:100 - 1:300. ELISA: 1:40000.. IF 1:50-200
Purification:The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Concentration:1 mg/ml
Storage Stability:-15°C to -25°C/1 year(Do not lower than -25°C)
Other Name:RAB3GAP1;KIAA0066;RAB3GAP;Rab3 GTPase-activating protein catalytic subunit;RAB3 GTPase-activating protein 130 kDa subunit;Rab3-GAP p130;Rab3-GAP
Observed Band(KD):117kD
Background: 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.[provided by RefSeq, Feb 2010],
Function:disease:Defects in RAB3GAP1 are the cause of Warburg micro syndrome 1 (WARBM1) [MIM:600118]. WARBM1 is a severe autosomal recessive disorder characterized by developmental abnormalities of the eye and central nervous system and by microgenitalia.,function:Probable catalytic subunit of a GTPase activating protein that has specificity for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Specifically converts active Rab3-GTP to the inactive form Rab3-GDP. Required for normal eye and brain development. May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters.,similarity:Belongs to the Rab3-GAP catalytic subunit family.,subcellular location:In neurons, it is enriched in the synaptic so
Subcellular Location:Cytoplasm . In neurons, it is enriched in the synaptic soluble fraction.
Expression:Ubiquitous.