InnateDB Protein
|
IDBP-85171.7
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
GAPVD1
|
Protein Name
|
GTPase activating protein and VPS9 domains 1
|
Synonyms
|
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000265956
|
InnateDB Gene
|
IDBG-85167 (GAPVD1)
|
Protein Structure
|
|
Function |
Acts both as a GTPase-activating protein (GAP) and a guanine nucleotide exchange factor (GEF), and participates in various processes such as endocytosis, insulin receptor internalization or LC2A4/GLUT4 trafficking. Acts as a GEF for the Ras-related protein RAB31 by exchanging bound GDP for free GTP, leading to regulate LC2A4/GLUT4 trafficking. In the absence of insulin, it maintains RAB31 in an active state and promotes a futile cycle between LC2A4/GLUT4 storage vesicles and early endosomes, retaining LC2A4/GLUT4 inside the cells. Upon insulin stimulation, it is translocated to the plasma membrane, releasing LC2A4/GLUT4 from intracellular storage vesicles. Also involved in EGFR trafficking and degradation, possibly by promoting EGFR ubiquitination and subsequent degradation by the proteasome. Has GEF activity for Rab5 and GAP activity for Ras. {ECO:0000269PubMed:16410077}.
|
Subcellular Localization |
Membrane {ECO:0000269PubMed:16410077}; Peripheral membrane protein {ECO:0000269PubMed:16410077}. Endosome {ECO:0000269PubMed:16410077}. Note=Recruited to the plasma membrane by TRIP10/CIP4 in response to insulin.
|
Disease Associations |
|
Tissue Specificity |
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
17
[view]
|
Protein-Protein |
17
[view]
|
Protein-DNA |
0
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
|
|
Molecular Function |
Accession |
GO Term |
GO:0005085
|
guanyl-nucleotide exchange factor activity
|
GO:0005096
|
GTPase activator activity
|
GO:0032794
|
GTPase activating protein binding
|
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR001936
Ras GTPase-activating protein
IPR008936
Rho GTPase activation protein
|
PFAM |
PF00616
|
PRINTS |
|
PIRSF |
|
SMART |
SM00323
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q14C86
|
PhosphoSite |
PhosphoSite-Q14C86
|
TrEMBL |
|
UniProt Splice Variant |
|
Entrez Gene |
26130
|
UniGene |
Hs.609980
|
RefSeq |
|
HUGO |
HGNC:23375
|
OMIM |
611714
|
CCDS |
|
HPRD |
10886
|
IMGT |
|
EMBL |
AB040954
AK000126
AL080196
AL354710
AL627223
AL834325
BC013635
BC021119
BC114937
BC114962
CH471090
DQ233254
|
GenPept |
AAH13635
AAH21119
AAI14938
AAI14963
ABB71126
BAA90959
BAA96045
CAB45770
CAD38993
CAH71014
CAO03610
CAO03611
CAQ08735
CAQ08736
CAQ08737
EAW87622
EAW87623
|
|
|