Entity Details

Primary name RBGPR_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9H2M9
EntryNameRBGPR_HUMAN
FullNameRab3 GTPase-activating protein non-catalytic subunit
TaxID9606
Evidenceevidence at protein level
Length1393
SequenceStatuscomplete
DateCreated2005-04-12
DateModified2021-06-02

Ontological Relatives

GenesRAB3GAP2

GO terms

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GOName
GO:0005096 GTPase activator activity
GO:0005789 endoplasmic reticulum membrane
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0006886 intracellular protein transport
GO:0008047 enzyme activator activity
GO:0030234 enzyme regulator activity
GO:0031267 small GTPase binding
GO:0032991 protein-containing complex
GO:0043087 regulation of GTPase activity
GO:0097051 establishment of protein localization to endoplasmic reticulum membrane
GO:1903061 positive regulation of protein lipidation
GO:1903373 positive regulation of endoplasmic reticulum tubular network organization
GO:2000786 positive regulation of autophagosome assembly

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR026059 Rab3-GAP regulatory subunitFamilyFamily
IPR029257 Rab3GAP regulatory subunit, C-terminalDomainDomain
IPR032839 Rab3-GAP regulatory subunit, N-terminalDomainDomain

Diseases

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Disease IDSourceNameDescription
212720 OMIMMartsolf syndrome (MARTS)Characterized by congenital cataracts, mental retardation, and hypogonadism. Inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.
614225 OMIMWarburg micro syndrome 2 (WARBM2)A rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. The disease is caused by variants affecting the gene represented in this entry.