InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RAB27A

Summary

InnateDB Protein

IDBP-747821.3

Last Modified

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

Gene Symbol

RAB27A

Protein Name

Synonyms

GS2; HsT18676; RAB27; RAM;

Species

Homo sapiens

Ensembl Protein

ENSP00000455012

InnateDB Gene

IDBG-12971 (RAB27A)

Protein Structure

UniProt Annotation

Function

Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse. {ECO:0000269PubMed:18812475}.

Subcellular Localization

Membrane; Lipid-anchor. Melanosome. Late endosome. Lysosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Localizes to endosomal exocytic vesicles.

Disease Associations

Griscelli syndrome 2 (GS2) [MIM:607624]: Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. GS2 patients also develop an uncontrolled T-lymphocyte and macrophage activation syndrome, known as hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation. Neurological impairment is present in some patients, likely as a result of hemophagocytic syndrome. {ECO:0000269PubMed:10835631}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Found in all the examined tissues except in brain. Low expression was found in thymus, kidney, muscle and placenta. Detected in melanocytes, and in most tumor cell lines examined. Expressed in cytotoxic T-lymphocytes (CTL) and mast cells. {ECO:0000269PubMed:15548590}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 35 experimentally validated interaction(s) in this database.
They are also associated with 12 interaction(s) predicted by orthology.

Experimentally validated
Total	35 [view]
Protein-Protein	35 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	12 [view]

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:0006184	GTP catabolic process
GO:0006886	intracellular protein transport
GO:0006887	exocytosis
GO:0006913	nucleocytoplasmic transport
GO:0007165	signal transduction
GO:0007264	small GTPase mediated signal transduction
GO:0015031	protein transport
GO:0019882	antigen processing and presentation
GO:0044267	cellular protein metabolic process
GO:0045921	positive regulation of exocytosis
GO:0071985	multivesicular body sorting pathway

Cellular Component

GO:0005622	intracellular
GO:0005764	lysosome
GO:0005770	late endosome
GO:0016020	membrane
GO:0030425	dendrite
GO:0032585	multivesicular body membrane
GO:0042470	melanosome
GO:0070062	extracellular vesicular exosome
GO:0070382	exocytic vesicle

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
IPR013684 Mitochondrial Rho-like
IPR020849 Small GTPase superfamily, Ras type
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00009
PF00071
PF00025
PF08477

PRINTS

PR00315
PR00449
PR00627
PR00328

PIRSF

SMART

SM00176
SM00174
SM00175
SM00173

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt