RBCC Red Blood Cell Collection

RB3GP_HUMAN

Source: PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: RAB3GAP1 , KIAA0066, RAB3GAP
Protein names and data: RB3GP_HUMAN , Rab3 GTPase-activating protein catalytic subunit , RAB3 GTPase-activating protein 130 kDa subunit; Rab3-GAP p130; Rab3-GAP Lenght: 981 a.a.
Mass: 110524 Da
fasta formatted sequence
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.
Disease: ( OMIM: 600118 602536 ) Warburg micro syndrome 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm. Note=In neurons, it is enriched in the synaptic soluble fraction.
Tissue specificity: Ubiquitous.

Genetic variants

598 - 598 N -> S (in dbSNP:rs10445686). VAR_051716 10445686

Database cross-references

UniProt: Q15042
Ensembl: ENST00000264158
MIM: 600118
MIM: 602536
neXtProt: NX_Q15042
Antibodypedia: Q15042 (may not find the protein thus also not any antibody)
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