Rab27a - RAB27A, member RAS oncogene family Gene

Also Known as ash; 2210402C08Rik; 2410003M20Rik; 4933437C11Rik

Species: Mus musculus

Gene Type: protein coding

Gene ID: 11891

Summary

The protein encoded by this gene is a member of the Rab family of proteins, which is the largest family within the Ras superfamily of GTPases. This gene product is thought to regulate vesicular transport, together with its specific effectors. Mutations in this gene cause several defects, including actin-based melanosome transport defects and immunodeficiency. Mutations in the human ortholog of this gene are associated with Griscelli syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Rab27a Products (3)

mRNA	Protein	Name
NM_001301230.1	NP_001288159.1	ras-related protein Rab-27A
NM_001301232.1	NP_001288161.1	ras-related protein Rab-27A
NM_023635.6	NP_076124.1	ras-related protein Rab-27A

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables GTP binding	IDA IDA: Inferred from direct assay	18940603	MGI
enables GTPase activity	IDA IDA: Inferred from direct assay	18940603	MGI
enables myosin V binding	IPI IPI: Inferred from physical interaction	11266470	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	11773082	MGI

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within blood coagulation	IMP IMP: Inferred from mutant phenotype	10859366	MGI
acts upstream of or within cytotoxic T cell degranulation	IMP IMP: Inferred from mutant phenotype	11266473	MGI
acts upstream of or within melanocyte differentiation	IMP IMP: Inferred from mutant phenotype	2379821	MGI
acts upstream of or within melanosome transport	IMP IMP: Inferred from mutant phenotype	11266473	MGI
acts upstream of or within natural killer cell degranulation	IMP IMP: Inferred from mutant phenotype	11266473	MGI
acts upstream of or within pigment granule localization	IMP IMP: Inferred from mutant phenotype	14978221	MGI
acts upstream of or within pigment granule transport	IMP IMP: Inferred from mutant phenotype	15572405	MGI
acts upstream of or within pigmentation	IMP IMP: Inferred from mutant phenotype	2379821	MGI
acts upstream of or within protein secretion	IMP IMP: Inferred from mutant phenotype	29074498	MGI
acts upstream of or within vesicle-mediated transport	IMP IMP: Inferred from mutant phenotype	10859366	MGI

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	14724135	MGI
located in melanosome	IDA IDA: Inferred from direct assay	11964381	MGI
located in photoreceptor outer segment	IDA IDA: Inferred from direct assay	11964381	MGI
located in secretory granule	IMP IMP: Inferred from mutant phenotype	11266473	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
ras-related protein Rab-27A	ashen

Rab27a Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	Rab27a	Q9ERI2	Sytl4	Mus musculus	Q9R0Q1-1	Pull Down	18940603
Cross	Rab27a	Q9ERI2	SYTL2	Homo sapiens	Q9HCH5	GMS	18940603
Cross	Rab27a	Q9ERI2	SYTL2	Homo sapiens	Q9HCH5	Pull Down	18940603
Cross	Rab27a	Q9ERI2	SYTL2	Homo sapiens	Q9HCH5	X-Ray Diffraction	18940603
Cross	Rab27a	Q9ERI2	SYTL5	Homo sapiens	Q8TDW5	Pull Down	12051743

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-125792	Nexinhib20	Inhibitor	99.86%	Unkown
HY-137677B	GTPγS tetralithium	Activator	96.04%	Unkown
HY-107030	Nitrefazole		99.44%	Unkown
HY-RS11537	RAB27A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS16309	Rab27a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-184152	IMP-2552	Inhibitor	/	Unkown
HY-184153	IMP-2958		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Rab27a	NCBI	NCBI:5873