Property Summary

NCBI Gene PubMed Count 21
PubMed Score 2.44
PubTator Score 7.66

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
osteosarcoma 1.082 0.000
lung cancer 1.300 0.000
ovarian cancer -1.300 0.000

Synonym

Accession Q9H2M9 A6H8V0 O75872 Q9HAB0 Q9UFJ7 Q9UQ15
Symbols p150
SPG69
WARBM2
RAB3GAP150
RAB3-GAP150

Gene

PANTHER Protein Class (2)

Gene RIF (7)

PMID Text
25495476 RAB3GAP1 and RAB3GAP2 modulate basal and rapamycin-induced autophagy
24891604 Rab18 and a Rab18 GEF complex of Rab3GAP1 and Rab3GAP2 have roles in the endoplasmic reticulum structure
23420520 One-hundred and forty-four Micro and nine Martsolf families were investigated, identifying mutations in RAB3GAP1 in 41% of cases, mutations in RAB3GAP2 in 7% of cases, and mutations in RAB18 in 5% of cases
23176487 Micro syndrome has been associated with causative mutations in three disease genes: RAB3GAP1, RAB3GAP2 and RAB18. Martsolf syndrome has been associated with a mutation in RAB3GAP2. [Review]
20967465 functionally severe RAB3GAP2 mutations cause Warburg Micro syndrome while hypomorphic RAB3GAP2 mutations can result in the milder Martsolf phenotype
18849981 KIF1Bbeta- and KIF1A-mediated axonal transport of presynaptic regulator RAB3GAP2 occurs in a GTP-dependent manner through MADD.
18485483 Data show that at chemical synapses, Rab3 performs specific functions in synpatic vesicle exocytosis.

AA Sequence

MACSIVQFCYFQDLQAARDFLFPHLREEILSGALRRDPSKSTDWEDDGWGAWEENEPQEPEEEGNTCKTQ      1 - 70
KTSWLQDCVLSLSPTNDLMVIAREQKAVFLVPKWKYSDKGKEEMQFAVGWSGSLNVEEGECVTSALCIPL     71 - 140
ASQKRSSTGRPDWTCIVVGFTSGYVRFYTENGVLLLAQLLNEDPVLQLKCRTYEIPRHPGVTEQNEELSI    141 - 210
LYPAAIVTIDGFSLFQSLRACRNQVAKAAASGNENIQPPPLAYKKWGLQDIDTIIDHASVGIMTLSPFDQ    211 - 280
MKTASNIGGFNAAIKNSPPAMSQYITVGSNPFTGFFYALEGSTQPLLSHVALAVASKLTSALFNAASGWL    281 - 350
GWKSKHEEEAVQKQKPKVEPATPLAVRFGLPDSRRHGESICLSPCNTLAAVTDDFGRVILLDVARGIAIR    351 - 420
MWKGYRDAQIGWIQTVEDLHERVPEKADFSPFGNSQGPSRVAQFLVIYAPRRGILEVWSTQQGPRVGAFN    421 - 490
VGKHCRLLYPGYKIMGLNNVTSQSWQPQTYQICLVDPVSGSVKTVNVPFHLALSDKKSERAKDMHLVKKL    491 - 560
AALLKTKSPNLDLVETEIKELILDIKYPATKKQALESILASERLPFSCLRNITQTLMDTLKSQELESVDE    561 - 630
GLLQFCANKLKLLQLYESVSQLNSLDFHLDTPFSDNDLALLLRLDEKELLKLQALLEKYKQENTRTNVRF    631 - 700
SDDKDGVLPVKTFLEYLEYEKDVLNIKKISEEEYVALGSFFFWKCLHGESSTEDMCHTLESAGLSPQLLL    701 - 770
SLLLSVWLSKEKDILDKPQSICCLHTMLSLLSKMKVAIDETWDSQSVSPWWQQMRTACIQSENNGAALLS    771 - 840
AHVGHSVAAQISNNMTEKKFSQTVLGADSEALTDSWEALSLDTEYWKLLLKQLEDCLILQTLLHSKGNTQ    841 - 910
TSKVSSLQAEPLPRLSVKKLLEGGKGGIADSVAKWIFKQDFSPEVLKLANEERDAENPDEPKEGVNRSFL    911 - 980
EVSEMEMDLGAIPDLLHLAYEQFPCSLELDVLHAHCCWEYVVQWNKDPEEARFFVRSIEHLKQIFNAHVQ    981 - 1050
NGIALMMWNTFLVKRFSAATYLMDKVGKSPKDRLCRRDVGMSDTAMTSFLGSCLDLLQILMEADVSRDEI   1051 - 1120
QVPVLDTEDAWLSVEGPISIVELALEQKHIHYPLVEHHSILCSILYAVMRFSLKTVKPLSLFDSKGKNAF   1121 - 1190
FKDLTSIQLLPSGEMDPNFISVRQQFLLKVVSAAVQAQHSATKVKDPTEEATPTPFGKDQDWPALAVDLA   1191 - 1260
HHLQVSEDVVRRHYVGELYNYGVDHLGEEAILQVHDKEVLASQLLVLTGQRLAHALLHTQTKEGMELLAR   1261 - 1330
LPPTLCTWLKAMDPQDLQNTEVPIATTAKLVNKVIELLPEKHGQYGLALHLIEAVEAISLPSL          1331 - 1393
//

Text Mined References (29)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25495476 2014 RAB3GAP1 and RAB3GAP2 modulate basal and rapamycin-induced autophagy.
24891604 2014 Rab18 and a Rab18 GEF complex are required for normal ER structure.
24482476 2014 Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
23420520 2013 Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23176487 2012 RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes.
21269460 2011 Initial characterization of the human central proteome.
20967465 2011 A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
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