GAPVD1 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0006897Biological processendocytosis
GO_0051223Biological processregulation of protein transport
GO_0005768Cellular componentendosome
GO_0005829Cellular componentcytosol
GO_0005886Cellular componentplasma membrane
GO_0030139Cellular componentendocytic vesicle
GO_0045296Molecular functioncadherin binding
GO_0005085Molecular functionguanyl-nucleotide exchange factor activity
GO_0005515Molecular functionprotein binding
GO_0032794Molecular functionGTPase activating protein binding
GO_0031267Molecular functionsmall GTPase binding
GO_0005096Molecular functionGTPase activator activity

IV. Literature review

[source]
Gene nameGAPVD1
Protein nameGTPase activating protein and VPS9 domains 1
GTPase-activating protein and VPS9 domain-containing protein 1 (GAPex-5) (Rab5-activating protein 6)
SynonymsRAP6
KIAA1521
GAPEX5
DescriptionFUNCTION: 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. .

AccessionsENST00000394105.6 [Q14C86-6]
ENST00000467750.5
B0QZ65
H0Y7I9
ENST00000394104.6 [Q14C86-1]
C9IZX9
Q14C86
F8W9S7
ENST00000495955.5 [Q14C86-1]
ENST00000470056.5 [Q14C86-3]
C9IZ08
ENST00000297933.11 [Q14C86-2]
ENST00000497580.5
ENST00000394084.5
ENST00000461379.5
ENST00000312123.13 [Q14C86-4]
ENST00000436712.2
ENST00000394083.6
H0Y4E7
B4DGD8
ENST00000431329.5