EuRBPDB

Description

RBPome

Expression

Transcripts

Gene Model

Phenotypes

GWAS

PPI

Gene Ontology

Description

Ensembl ID: ENSG00000115839 (Gene tree)
Gene ID: 22930
Gene Symbol: RAB3GAP1
Alias: RAB3GAP|KIAA0066|RAB3GAP130|WARBM1
Full Name: RAB3 GTPase activating protein catalytic subunit 1
Gene Type: protein_coding
Species: Homo_sapiens
Status: putative
Strand: Plus strand
Length: 124,130 bases
Position: chr2:135,052,265-135,176,394
Accession: 17063
RBP type: non-canonical RBP
Summary: This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]

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
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
ENST00000539493	RAB3GAP1-207	3161	-	ENSP00000444306	935 (aa)	-	Q15042
ENST00000497080	RAB3GAP1-206	446	-	-	- (aa)	-	-
ENST00000489858	RAB3GAP1-205	557	-	-	- (aa)	-	-
ENST00000442034	RAB3GAP1-203	4185	-	ENSP00000411418	988 (aa)	-	Q15042
ENST00000264158	RAB3GAP1-201	4914	XM_011510823	ENSP00000264158	981 (aa)	XP_011509125	Q15042
ENST00000487003	RAB3GAP1-204	3506	-	-	- (aa)	-	-
ENST00000425393	RAB3GAP1-202	1139	-	ENSP00000400761	58 (aa)	-	C9J1R5

Gene Model

Click here to download ENSG00000115839's gene model file

Phenotypes

ensgID	Trait	pValue	Pubmed ID
ENSG00000115839	Cholesterol, HDL	1.14221710899853E-8	17903299
ENSG00000115839	Cholesterol, HDL	5.01980739861631E-7	17903299
ENSG00000115839	Cholesterol, HDL	1.75155997506741E-8	17903299
ENSG00000115839	Metabolism	8E-45	24816252
ENSG00000115839	Cholesterol	1E-8	20686565
ENSG00000115839	Body Mass Index	2E-6	25673413
ENSG00000115839	Body Mass Index	1E-6	25673413
ENSG00000115839	Cholesterol	1E-13	24097068

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000115839	rs7570971	2	135080336	A	Blood metabolite levels	24816252	[0.031-0.043] unit decrease	0.037	EFO_0005664
ENSG00000115839	rs7570971	2	135080336	A	Body mass index	26426971	unit decrease	0.017575238	EFO_0004340
ENSG00000115839	rs7570971	2	135080336	C	Body mass index	30108127	[NR] unit increase	0.015	EFO_0004340

Protein-Protein Interaction (PPI)

Clik here to download ENSG00000115839'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	-	TAS	Function
GO:0005096	GTPase activator activity	21873635.	IBA	Function
GO:0005096	GTPase activator activity	9030515.10859313.16923123.	IDA	Function
GO:0005096	GTPase activator activity	24891604.	IMP	Function
GO:0005515	protein binding	22337587.	IPI	Function
GO:0005789	endoplasmic reticulum membrane	-	TAS	Component
GO:0005794	Golgi apparatus	25495476.	IDA	Component
GO:0005811	lipid droplet	25495476.	IDA	Component
GO:0005829	cytosol	-	TAS	Component
GO:0007420	brain development	20512159.	IMP	Process
GO:0010628	positive regulation of gene expression	-	IEA	Process
GO:0017112	Rab guanyl-nucleotide exchange factor activity	24891604.	IMP	Function
GO:0017137	Rab GTPase binding	10859313.24891604.	IPI	Function
GO:0021854	hypothalamus development	20512159.	IMP	Process
GO:0032991	protein-containing complex	24891604.	IDA	Component
GO:0034389	lipid droplet organization	24239381.	IMP	Process
GO:0043010	camera-type eye development	20512159.	IMP	Process
GO:0043087	regulation of GTPase activity	10859313.	IDA	Process
GO:0043547	positive regulation of GTPase activity	21873635.	IBA	Process
GO:0043547	positive regulation of GTPase activity	24891604.	IMP	Process
GO:0043547	positive regulation of GTPase activity	-	ISS	Process
GO:0048172	regulation of short-term neuronal synaptic plasticity	-	ISS	Process
GO:0060079	excitatory postsynaptic potential	-	ISS	Process
GO:0060325	face morphogenesis	20512159.	IMP	Process
GO:0061646	positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization	-	ISS	Process
GO:0070062	extracellular exosome	19056867.	HDA	Component
GO:0071782	endoplasmic reticulum tubular network	24891604.	IDA	Component
GO:0097051	establishment of protein localization to endoplasmic reticulum membrane	24891604.	IMP	Process
GO:0098794	postsynapse	-	IEA	Component
GO:1903061	positive regulation of protein lipidation	25495476.	IMP	Process
GO:1903233	regulation of calcium ion-dependent exocytosis of neurotransmitter	-	ISS	Process
GO:1903373	positive regulation of endoplasmic reticulum tubular network organization	24891604.	IMP	Process
GO:2000786	positive regulation of autophagosome assembly	25495476.	IMP	Process