Rabbit Anti-RAB3GAP1 antibody

Home > Product > Antibody > Rabbit Anti-RAB3GAP1 antibody

DKFZp434A012; KIAA0066; P130; Rab3 GAP; Rab3 GAP p130; RAB3 GTPase activating protein 130 kDa subunit; Rab3 GTPase activating protein catalytic subunit; RAB3GAP; RAB3GAP130; WARBM1; RB3GP_HUMAN.

Cat:

SL11938R

Species Reactivity：

(predicted: Human,Mouse,Rat,Rabbit,)

Immunogen：

KLH conjugated synthetic peptide derived from human RAB3GAP1:501-600/981

Format：

Liquid

Storage instructions：

Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.

Concentration：

1mg/ml

Clonality：

Polyclonal

Isotype：

IgG

Applications：

ELISA=1:5000-10000IHC-P=1:100-500IHC-F=1:100-500ICC=1:100-500IF=1:100-500（Paraffin sections need to do antigen repair）not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.

Host：

Rabbit

prev next

Unit:

Price: $228.00

Product PDFs

Datasheet: Down Datasheet

Other Information
Citations
Protein Attributes
Feedback Wall

Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Rab 3 GAP p130, also known as Rab3 GTPase-activating protein catalytic subunit, is a 981 amino acid protein that belongs to the Rab3-GAP catalytic subunit family. Rab 3 GAP p130 converts active RAB3-GTP to the inactive form RAB3-GDP, and is required for normal eye and brain development. Defects in Rab 3 GAP p130 are the cause of Warburg micro syndrome 1 (WARBM1). WARBM1 is a severe autosomal recessive disorder characterized by developmental abnormalities of the eye and central nervous system and by microgenitalia. The Rab 3 GAP p130 protein may participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters. Existing as two alternatively spliced isoforms, the Rab 3 GAP p130 gene is conserved in chimpanzee, dog, cow, mouse, chicken, zebrafish and fruit fly, and maps to human chromosome 2q21.3.

Function:
RAB3GAP1 is a member of the RAB3 protein family which are implicated in regulated exocytosis of neurotransmitters and hormones. RAB3GAP, which is involved in regulation of RAB3 activity, is a heterodimeric complex consisting a 130-kD catalytic subunit and a 150-kD noncatalytic subunit. RAB3GAP specifically converts active RAB3-GTP to the inactive form RAB3-GDP (Aligianis et al., 2005 [PubMed 15696165].

Subunit:
The Rab3 GTPase-activating complex is a heterodimer composed of RAB3GAP and RAB3-GAP150. The Rab3 GTPase-activating complex interacts with DMXL2

Subcellular Location:
Cytoplasm. Note=In neurons, it is enriched in the synaptic soluble fraction.

Tissue Specificity:
Ubiquitous.

DISEASE:
Defects in RAB3GAP1 are the cause of Warburg micro syndrome type 1 (WARBM1) [MIM:600118]. A rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism.

Similarity:
Belongs to the Rab3-GAP catalytic subunit family.

SWISS:
Q15042

Gene ID:
22930

Database links:

Entrez Gene: 22930 Human

Omim: 602536 Human

SwissProt: Q15042 Human

Unigene: 306327 Human

Product Feedback Wall