ID:RBGPR_HUMAN DESCRIPTION: RecName: Full=Rab3 GTPase-activating protein non-catalytic subunit; AltName: Full=RGAP-iso; AltName: Full=Rab3 GTPase-activating protein 150 kDa subunit; AltName: Full=Rab3-GAP p150; Short=Rab3-GAP150; AltName: Full=Rab3-GAP regulatory subunit; FUNCTION: Regulatory 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. Rab3 GTPase-activating complex 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. SUBUNIT: The Rab3 GTPase-activating complex is a heterodimer composed of RAB3GAP and RAB3-GAP150. The Rab3 GTPase-activating complex interacts with DMXL2 (By similarity). INTERACTION: O75365:PTP4A3; NbExp=1; IntAct=EBI-536107, EBI-1043866; SUBCELLULAR LOCATION: Cytoplasm. Note=In neurons, it is enriched in the synaptic soluble fraction. TISSUE SPECIFICITY: Ubiquitous. DISEASE: Defects in RAB3GAP2 are the cause of Martsolf syndrome (MARTS) [MIM:212720]. Martsolf syndrome is characterized by congenital cataracts, mental retardation, and hypogonadism. Inheritance is autosomal recessive. DISEASE: Defects in RAB3GAP2 are the cause of Warburg micro syndrome type 2 (WARBM2) [MIM:614225]. WARBM2 is 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 regulatory subunit family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9H2M9
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006886 intracellular protein transport GO:0043085 positive regulation of catalytic activity GO:0043087 regulation of GTPase activity GO:0043547 positive regulation of GTPase activity GO:0097051 establishment of protein localization to endoplasmic reticulum membrane GO:1903061 positive regulation of protein lipidation GO:1903373 positive regulation of endoplasmic reticulum tubular network organization GO:2000786 positive regulation of autophagosome assembly
AK021928 - Homo sapiens cDNA FLJ11866 fis, clone HEMBA1006973, highly similar to Homo sapiens rab3-GAP regulatory domain mRNA. AF255648 - Homo sapiens rGAP-iso mRNA, complete cds. BC036513 - Homo sapiens cDNA clone IMAGE:4822549, containing frame-shift errors. AL117631 - Homo sapiens mRNA; cDNA DKFZp434D245 (from clone DKFZp434D245); partial cds. BC146760 - Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic), mRNA (cDNA clone MGC:166829 IMAGE:9007199), complete cds. AK027485 - Homo sapiens cDNA FLJ14579 fis, clone NT2RM4001203, highly similar to Rab3 GTPase-activating protein non-catalytic subunit. AB020646 - Homo sapiens KIAA0839 mRNA for KIAA0839 protein. BC098383 - Homo sapiens cDNA clone IMAGE:30520261, containing frame-shift errors. BC131573 - Homo sapiens cDNA clone IMAGE:40108635. AK291234 - Homo sapiens cDNA FLJ78421 complete cds, highly similar to Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA. AF004828 - Homo sapiens rab3-GAP regulatory domain mRNA, complete cds. AB384006 - Synthetic construct DNA, clone: pF1KSDA0839, Homo sapiens RAB3GAP2 gene for RAB3 GTPase-activating protein non-catalytic subunit, complete cds, without stop codon, in Flexi system. AK074489 - Homo sapiens cDNA FLJ90008 fis, clone HEMBA1000275. JD034228 - Sequence 15252 from Patent EP1572962. JD546838 - Sequence 527862 from Patent EP1572962. JD280267 - Sequence 261291 from Patent EP1572962. JD089808 - Sequence 70832 from Patent EP1572962. JD562695 - Sequence 543719 from Patent EP1572962. JD049223 - Sequence 30247 from Patent EP1572962. JD310079 - Sequence 291103 from Patent EP1572962. BC050630 - Homo sapiens cDNA clone IMAGE:5580410, containing frame-shift errors. JD108759 - Sequence 89783 from Patent EP1572962. JD376199 - Sequence 357223 from Patent EP1572962. JD404897 - Sequence 385921 from Patent EP1572962. JD462534 - Sequence 443558 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q9H2M9 (Reactome details) participates in the following event(s):
R-HSA-8850040 RAB3GAP1:RAB3GAP2 recruits RAB18:GCDP to ER R-HSA-8850041 RAB3GAP1:RAB3GAP2 promotes nucleotide exchange on RAB18 R-HSA-8877998 RAB3GAP1:RAB3GAP2 exchanges GTP for GDP on RAB18 R-HSA-6811436 COPI-independent Golgi-to-ER retrograde traffic R-HSA-8856688 Golgi-to-ER retrograde transport R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic R-HSA-9007101 Rab regulation of trafficking R-HSA-199991 Membrane Trafficking R-HSA-5653656 Vesicle-mediated transport
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
