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RAB3GAP1

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GENERAL INFORMATION

Gene name

 RAB3GAP1

Gene description

 RAB3 GTPase activating protein subunit 1 (catalytic)

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

Summary

 Mainly localized to the nucleoplasm. In addition localized to the cytosol.

RNA cell category

 Expressed in all

Protein evidence

 Evidence at protein level

Main location

 Localized to the Nucleoplasm (approved)

Additional location

 In addition localized to the Cytosol (supported)

DATA RELIABILITY

Reliability score

 Approved based on 1 antibody.
HPA034495
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ASSAYS
RNA expression
Human cells

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

HUMAN CELLS

Summary

 Mainly localized to the nucleoplasm. In addition localized to the cytosol.

Main location

 Nucleoplasm (approved)

Additional location

 Cytosol (supported)

 

 

 
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Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

Location

Single-cell variation

Cell cycle dependent variation
HPA034495 A-431 Nucleoplasm
Cytosol
HPA034495 U-2 OS Nucleoplasm
Cytosol
HPA034495 U-251 MG Nucleoplasm
Centrosome
Cytosol

GENE INFORMATION

Gene name

 RAB3GAP1 (HGNC Symbol)

Synonyms

 KIAA0066, RAB3GAP, RAB3GAP130, WARBM1

Description

 RAB3 GTPase activating protein subunit 1 (catalytic) (HGNC Symbol)

Entrez gene 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]

Chromosome

 2

Cytoband

 q21.3

Chromosome location (bp)

 135052265 - 135176394

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000115839 (version 83.38)

Entrez gene

 22930

UniProt

 Q15042 (UniProt - Evidence at protein level)

neXtProt

 NX_Q15042

Antibodypedia

 RAB3GAP1 antibodies

PROTEIN BROWSER
RAB3GAP1-001
RAB3GAP1-002
RAB3GAP1-003
RAB3GAP1-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
RAB3GAP1-001
ENSP00000264158
ENST00000264158
Q15042 [Direct mapping]
Rab3 GTPase-activating protein catalytic subunit
B9A6J2 [Target identity:100%; Query identity:100%]
RAB3 GTPase activating protein subunit 1; RAB3 GTPase activating protein subunit 1 (Catalytic), isoform CRA_d
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005096 [GTPase activator activity]
GO:0005737 [cytoplasm]
GO:0005794 [Golgi apparatus]
GO:0005811 [lipid particle]
GO:0007420 [brain development]
GO:0017112 [Rab guanyl-nucleotide exchange factor activity]
GO:0017137 [Rab GTPase binding]
GO:0021854 [hypothalamus development]
GO:0034389 [lipid particle organization]
GO:0043010 [camera-type eye development]
GO:0043087 [regulation of GTPase activity]
GO:0043234 [protein complex]
GO:0043547 [positive regulation of GTPase activity]
GO:0048172 [regulation of short-term neuronal synaptic plasticity]
GO:0060079 [excitatory postsynaptic potential]
GO:0060325 [face morphogenesis]
GO:0061646 [positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization]
GO:0070062 [extracellular exosome]
GO:0071782 [endoplasmic reticulum tubular network]
GO:0097051 [establishment of protein localization to endoplasmic reticulum membrane]
GO:1903061 [positive regulation of protein lipidation]
GO:1903233 [regulation of calcium ion-dependent exocytosis of neurotransmitter]
GO:1903373 [positive regulation of endoplasmic reticulum tubular network organization]
GO:2000786 [positive regulation of autophagosome assembly]
Show all
 981 aa
110.5 kDa 		No 0
RAB3GAP1-002
ENSP00000411418
ENST00000442034
Q15042 [Direct mapping]
Rab3 GTPase-activating protein catalytic subunit
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005096 [GTPase activator activity]
GO:0005737 [cytoplasm]
GO:0005794 [Golgi apparatus]
GO:0005811 [lipid particle]
GO:0007420 [brain development]
GO:0010628 [positive regulation of gene expression]
GO:0017112 [Rab guanyl-nucleotide exchange factor activity]
GO:0017137 [Rab GTPase binding]
GO:0021854 [hypothalamus development]
GO:0034389 [lipid particle organization]
GO:0043010 [camera-type eye development]
GO:0043087 [regulation of GTPase activity]
GO:0043234 [protein complex]
GO:0043547 [positive regulation of GTPase activity]
GO:0048172 [regulation of short-term neuronal synaptic plasticity]
GO:0060079 [excitatory postsynaptic potential]
GO:0060325 [face morphogenesis]
GO:0061646 [positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization]
GO:0070062 [extracellular exosome]
GO:0071782 [endoplasmic reticulum tubular network]
GO:0097051 [establishment of protein localization to endoplasmic reticulum membrane]
GO:1903061 [positive regulation of protein lipidation]
GO:1903233 [regulation of calcium ion-dependent exocytosis of neurotransmitter]
GO:1903373 [positive regulation of endoplasmic reticulum tubular network organization]
GO:2000786 [positive regulation of autophagosome assembly]
Show all
 988 aa
111.3 kDa 		No 0
RAB3GAP1-003
ENSP00000400761
ENST00000425393
C9J1R5 [Direct mapping]
Rab3 GTPase-activating protein catalytic subunit
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005096 [GTPase activator activity]
GO:0043547 [positive regulation of GTPase activity]
Show all
 58 aa
6.7 kDa 		No 0
RAB3GAP1-201
ENSP00000444306
ENST00000539493
Q15042 [Direct mapping]
Rab3 GTPase-activating protein catalytic subunit
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005096 [GTPase activator activity]
GO:0005737 [cytoplasm]
GO:0005794 [Golgi apparatus]
GO:0005811 [lipid particle]
GO:0007420 [brain development]
GO:0017112 [Rab guanyl-nucleotide exchange factor activity]
GO:0017137 [Rab GTPase binding]
GO:0021854 [hypothalamus development]
GO:0034389 [lipid particle organization]
GO:0043010 [camera-type eye development]
GO:0043087 [regulation of GTPase activity]
GO:0043234 [protein complex]
GO:0043547 [positive regulation of GTPase activity]
GO:0048172 [regulation of short-term neuronal synaptic plasticity]
GO:0060079 [excitatory postsynaptic potential]
GO:0060325 [face morphogenesis]
GO:0061646 [positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization]
GO:0070062 [extracellular exosome]
GO:0071782 [endoplasmic reticulum tubular network]
GO:0097051 [establishment of protein localization to endoplasmic reticulum membrane]
GO:1903061 [positive regulation of protein lipidation]
GO:1903233 [regulation of calcium ion-dependent exocytosis of neurotransmitter]
GO:1903373 [positive regulation of endoplasmic reticulum tubular network organization]
GO:2000786 [positive regulation of autophagosome assembly]
Show all
 935 aa
105.3 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.