InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RAB18

Summary

InnateDB Protein

IDBP-65000.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RAB18

Protein Name

RAB18, member RAS oncogene family

Synonyms

RAB18LI1; WARBM3;

Species

Homo sapiens

Ensembl Protein

ENSP00000349415

InnateDB Gene

IDBG-64998 (RAB18)

Protein Structure

UniProt Annotation

Function

Plays a role in apical endocytosis/recycling. May be implicated in transport between the plasma membrane and early endosomes. Plays a key role in eye and brain development and neurodegeneration. {ECO:0000269PubMed:21473985}.

Subcellular Localization

Cell membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}; Cytoplasmic side {ECO:0000305}.

Disease Associations

Warburg micro syndrome 3 (WARBM3) [MIM:614222]: 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. {ECO:0000269PubMed:21473985}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.

Experimentally validated
Total	7 [view]
Protein-Protein	6 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003924	GTPase activity
GO:0005515	protein binding
GO:0005525	GTP binding
GO:0019003	GDP binding

Biological Process

GO:0001654	eye development
GO:0006184	GTP catabolic process
GO:0006886	intracellular protein transport
GO:0006913	nucleocytoplasmic transport
GO:0007165	signal transduction
GO:0007264	small GTPase mediated signal transduction
GO:0007420	brain development
GO:0015031	protein transport
GO:0034389	lipid particle organization

Cellular Component

GO:0005622	intracellular
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005886	plasma membrane
GO:0016020	membrane
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR000795 Elongation factor, GTP-binding domain
IPR001806 Small GTPase superfamily
IPR002041 Ran GTPase
IPR003578 Small GTPase superfamily, Rho type
IPR003579 Small GTPase superfamily, Rab type
IPR005225 Small GTP-binding protein domain
IPR006689 Small GTPase superfamily, ARF/SAR type
IPR006762 Gtr1/RagA G protein
IPR013684 Mitochondrial Rho-like
IPR020849 Small GTPase superfamily, Ras type
IPR024156 Small GTPase superfamily, ARF type
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00009
PF00071
PF00025
PF04670
PF08477

PRINTS

PR00315
PR00449
PR00627
PR00328

PIRSF

SMART

SM00176
SM00174
SM00175
SM00173
SM00177

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt