EuRBPDB

Description

RBPome

Expression

Transcripts

Gene Model

Phenotypes

GWAS

PPI

Gene Ontology

Description

Ensembl ID: ENSG00000165219 (Gene tree)
Gene ID: 26130
Gene Symbol: GAPVD1
Alias: DKFZP434C212|KIAA1521
Full Name: GTPase activating protein and VPS9 domains 1
Gene Type: protein_coding
Species: Homo_sapiens
Status: putative
Strand: Plus strand
Length: 125,545 bases
Position: chr9:125,241,663-125,367,207
Accession: 23375
RBP type: non-canonical RBP
Summary: (GTPase Activating Protein And VPS9 Domains 1) is a Protein Coding gene. Diseases associated with GAPVD1 include Familial Idiopathic Steroid-Resistant Nephrotic Syndrome With Focal Segmental Hyalinosis. Among its related pathways are Clathrin-mediated endocytosis and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and GTPase activating protein binding. An important paralog of this gene is RIN3.

RNA binding proteome (RBPome)

PID	Title	Method	Time	Author	Doi
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & HEK293	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2
30528433	The Human RNA-Binding Proteome and Its Dynamics during Translational Arrest	XRNAX & HEK293	2018 Dec 6	Trendel J	DOI: 10.1016/j.cell.2018.11.004
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & MCF10A	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & U2OS	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2

Expression

Transcripts

Transcript ID	Name	Length	RefSeq ID	Protein ID	Length	RefSeq ID	UniportKB ID
ENST00000436712	GAPVD1-209	2490	-	ENSP00000391251	830 (aa)	-	H0Y4E7
ENST00000467707	GAPVD1-211	787	-	-	- (aa)	-	-
ENST00000394104	GAPVD1-206	6737	-	ENSP00000377664	1478 (aa)	-	Q14C86
ENST00000394105	GAPVD1-207	5207	XM_011518499	ENSP00000377665	1487 (aa)	XP_011516801	Q14C86
ENST00000312123	GAPVD1-203	4320	XM_017014606	ENSP00000309582	1439 (aa)	XP_016870095	Q14C86
ENST00000495588	GAPVD1-218	274	-	-	- (aa)	-	-
ENST00000479511	GAPVD1-217	575	-	-	- (aa)	-	-
ENST00000474637	GAPVD1-216	2545	-	-	- (aa)	-	-
ENST00000461379	GAPVD1-210	582	-	ENSP00000418969	117 (aa)	-	C9IZX9
ENST00000497580	GAPVD1-220	3720	-	ENSP00000419799	756 (aa)	-	B4DGD8
ENST00000469528	GAPVD1-214	466	-	-	- (aa)	-	-
ENST00000265956	GAPVD1-201	2667	-	ENSP00000265956	629 (aa)	-	A0A0A0MQV8
ENST00000470056	GAPVD1-215	8923	XM_005251904	ENSP00000419767	1433 (aa)	XP_005251961	Q14C86
ENST00000394084	GAPVD1-205	3190	-	ENSP00000377646	497 (aa)	-	B0QZ65
ENST00000394083	GAPVD1-204	4747	-	ENSP00000377645	1412 (aa)	-	F8W9S7
ENST00000495955	GAPVD1-219	5309	-	ENSP00000419063	1478 (aa)	-	Q14C86
ENST00000467750	GAPVD1-212	3163	-	ENSP00000418747	988 (aa)	-	C9IZ08
ENST00000297933	GAPVD1-202	6003	-	ENSP00000297933	1460 (aa)	-	Q14C86
ENST00000431329	GAPVD1-208	2512	-	ENSP00000413082	837 (aa)	-	H0Y7I9
ENST00000469498	GAPVD1-213	385	-	-	- (aa)	-	-

Gene Model

Click here to download ENSG00000165219's gene model file

Phenotypes

ensgID	Trait	pValue	Pubmed ID
ENSG00000165219	Potassium	8.3170000E-005	-
ENSG00000165219	Platelet Function Tests	1.8366500E-005	-
ENSG00000165219	Platelet Function Tests	1.3457900E-005	-
ENSG00000165219	Platelet Function Tests	1.7905300E-005	-
ENSG00000165219	Platelet Function Tests	8.8691247E-006	-
ENSG00000165219	Platelet Function Tests	1.3457900E-005	-
ENSG00000165219	Platelet Function Tests	1.6547200E-005	-
ENSG00000165219	Platelet Function Tests	1.6552800E-005	-
ENSG00000165219	Platelet Function Tests	1.6547200E-005	-
ENSG00000165219	Platelet Function Tests	1.6549200E-005	-
ENSG00000165219	Platelet Function Tests	1.1722700E-005	-
ENSG00000165219	Platelet Function Tests	4.0253667E-006	-
ENSG00000165219	Platelet Function Tests	3.0508691E-006	-
ENSG00000165219	Platelet Function Tests	3.9358672E-006	-
ENSG00000165219	Platelet Function Tests	1.9442665E-006	-
ENSG00000165219	Platelet Function Tests	3.0508691E-006	-
ENSG00000165219	Platelet Function Tests	3.3286426E-006	-
ENSG00000165219	Platelet Function Tests	1.0755000E-005	-
ENSG00000165219	Platelet Function Tests	3.0638512E-006	-
ENSG00000165219	Platelet Function Tests	4.5325373E-006	-
ENSG00000165219	Platelet Function Tests	3.0647558E-006	-
ENSG00000165219	Platelet Function Tests	3.0638512E-006	-
ENSG00000165219	Platelet Function Tests	3.0642302E-006	-
ENSG00000165219	Platelet Function Tests	2.1515920E-006	-
ENSG00000165219	Platelet Function Tests	4.2785254E-006	-
ENSG00000165219	Platelet Function Tests	4.2756983E-006	-
ENSG00000165219	Platelet Function Tests	2.3161800E-005	-
ENSG00000165219	Platelet Function Tests	1.5445600E-005	-
ENSG00000165219	Platelet Function Tests	2.3161800E-005	-
ENSG00000165219	Platelet Function Tests	2.0307800E-005	-

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000165219	rs141299329	9	125290165	?	General cognitive ability	29844566	z-score decrease	4.58	EFO_0004337
ENSG00000165219	rs1759433	9	125310818	A	Smoking initiation (ever regular vs never regular)	30643251	[0.01-0.02] unit increase	0.015364719	EFO_0006527

Protein-Protein Interaction (PPI)

Clik here to download ENSG00000165219's network

* RBP PPI network refers to all genes directly bind to RBP

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0005085	guanyl-nucleotide exchange factor activity	16410077.	IMP	Function
GO:0005096	GTPase activator activity	-	IEA	Function
GO:0005768	endosome	-	IEA	Component
GO:0005829	cytosol	16410077.	IDA	Component
GO:0005829	cytosol	-	TAS	Component
GO:0006897	endocytosis	-	IEA	Process
GO:0007165	signal transduction	-	IEA	Process
GO:0016020	membrane	-	IEA	Component
GO:0032794	GTPase activating protein binding	16410077.	IMP	Function
GO:0043547	positive regulation of GTPase activity	-	IEA	Process
GO:0045296	cadherin binding	25468996.	HDA	Function
GO:0051223	regulation of protein transport	16410077.	IMP	Process
GO:0061024	membrane organization	-	TAS	Process