Entity Details

Primary name RB40L_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP0C0E4
EntryNameRB40L_HUMAN
FullNameRas-related protein Rab-40A-like
TaxID9606
Evidenceevidence at protein level
Length278
SequenceStatuscomplete
DateCreated2005-09-13
DateModified2021-06-02

Ontological Relatives

GenesRAB40AL

GO terms

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GOName
GO:0003924 GTPase activity
GO:0005525 GTP binding
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005768 endosome
GO:0005886 plasma membrane
GO:0008021 synaptic vesicle
GO:0016567 protein ubiquitination
GO:0035556 intracellular signal transduction
GO:0072659 protein localization to plasma membrane

Subcellular Location

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Subcellular Location
Cytoplasm
Membrane
Mitochondrion

Domains

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DomainNameCategoryType
IPR001496 SOCS box domainDomainDomain
IPR001806 Small GTPaseFamilyFamily
IPR005225 Small GTP-binding protein domainDomainDomain
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR036036 SOCS box-like domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
300519 OMIMMental retardation, X-linked, syndromic, Martin-Probst type (MRXSMP)A rare neurodevelopmental disorder characterized by mental retardation, sensorineural hearing loss, short stature and craniofacial dysmorphisms. Patients also exhibit abnormal teeth, widely spaced nipples, abnormal dermatoglyphics, renal insufficiency, and impaired haematopoiesis. Mental retardation is defined as significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. The disease is caused by variants affecting the gene represented in this entry.

Interactions

0 interactions

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