• Gene id: 5873

Gene Summary

• Gene Symbol: RAB27A   Gene   UCSC   Ensembl
• Aliases: GS2, HsT18676, RAB27, RAM
• Gene name: RAB27A, member RAS oncogene family
• Alternate names: ras-related protein Rab-27A, GTP-binding protein Ram, mutant Ras-related protein Rab-27A, rab-27,
• Gene location: 15q21.3 (55291337: 55202965)     Exons: 12     NC_000015.10
• Gene summary(Entrez): The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscell
• OMIM: 603868

Protein Summary

• Protein general information: P51159  
  • Name: Ras related protein Rab 27A (Rab 27) (EC 3.6.5.2) (GTP binding protein Ram)
  • Length: 221  
  • Mass: 24868
  • 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 cel
• Sequence:

  MSDGDYDYLIKFLALGDSGVGKTSVLYQYTDGKFNSKFITTVGIDFREKRVVYRASGPDGATGRGQRIHLQLWDT
  AGQERFRSLTTAFFRDAMGFLLLFDLTNEQSFLNVRNWISQLQMHAYCENPDIVLCGNKSDLEDQRVVKEEEAIA
  LAEKYGIPYFETSAANGTNISQAIEMLLDLIMKRMERCVDKSWIPEGVVRSNGHASTDQLSEEKEKGACGC

• Structural information:
  • Interpro: IPR027417  IPR041837  IPR005225  IPR001806  
  • Prosite: PS51419
  • CDD: cd04127
  • PDB: 6HUF
  • PDBsum: 6HUF
  • DIP: 44244
  • STRING: ENSP00000379601
• Other Databases: GeneCards:  RAB27A  Malacards:  RAB27A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048489	synaptic vesicle transport	TAS	biological process
GO:0006886	intracellular protein transport	IBA	biological process
GO:0042470	melanosome	IBA	cellular component
GO:0045921	positive regulation of exocytosis	IBA	biological process
GO:0003924	GTPase activity	IBA	molecular function
GO:0012505	endomembrane system	IBA	cellular component
GO:0030141	secretory granule	IBA	cellular component
GO:0032402	melanosome transport	IBA	biological process
GO:0032482	Rab protein signal transduction	IBA	biological process
GO:0019003	GDP binding	IDA	molecular function
GO:0005764	lysosome	IDA	cellular component
GO:0070382	exocytic vesicle	IDA	cellular component
GO:0070382	exocytic vesicle	IDA	cellular component
GO:0006887	exocytosis	IDA	biological process
GO:0005770	late endosome	IDA	cellular component
GO:0005770	late endosome	IDA	cellular component
GO:0005525	GTP binding	ISS	molecular function
GO:0003924	GTPase activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006887	exocytosis	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0033162	melanosome membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0035580	specific granule lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0033093	Weibel-Palade body	IEA	cellular component
GO:0030141	secretory granule	IEA	cellular component
GO:0051875	pigment granule localization	IEA	biological process
GO:0043316	cytotoxic T cell degranulation	IEA	biological process
GO:0032402	melanosome transport	IEA	biological process
GO:0032400	melanosome localization	IEA	biological process
GO:0031489	myosin V binding	IEA	molecular function
GO:0030141	secretory granule	IEA	cellular component
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0007596	blood coagulation	IEA	biological process
GO:0006605	protein targeting	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0003924	GTPase activity	IEA	molecular function
GO:0030667	secretory granule membrane	IEA	cellular component
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0051904	pigment granule transport	IEA	biological process
GO:0043473	pigmentation	IEA	biological process
GO:0043320	natural killer cell degranulation	IEA	biological process
GO:0042470	melanosome	IEA	cellular component
GO:0030318	melanocyte differentiation	IEA	biological process
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0042470	melanosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005770	late endosome	IEA	cellular component
GO:0005525	GTP binding	IDA	molecular function
GO:0032585	multivesicular body membrane	IDA	cellular component
GO:0030425	dendrite	IDA	cellular component
GO:0042470	melanosome	IDA	cellular component
GO:0042470	melanosome	IDA	cellular component
GO:0032400	melanosome localization	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0097278	complement-dependent cytotoxicity	IMP	biological process
GO:0050766	positive regulation of phagocytosis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1903428	positive regulation of reactive oxygen species biosynthetic process	IMP	biological process
GO:0036257	multivesicular body organization	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0019882	antigen processing and presentation	IMP	biological process
GO:1903307	positive regulation of regulated secretory pathway	IGI	biological process
GO:1903435	positive regulation of constitutive secretory pathway	IMP	biological process
GO:1903307	positive regulation of regulated secretory pathway	IMP	biological process
GO:1990182	exosomal secretion	IMP	biological process
GO:0032402	melanosome transport	NAS	biological process
GO:0071985	multivesicular body sorting pathway	IMP	biological process
GO:0045921	positive regulation of exocytosis	IMP	biological process

Diseases

Associated diseases	References
Griscelli syndrome	KEGG:H02022
Other phagocyte defects	KEGG:H00101
Griscelli syndrome	KEGG:H02022
non-Langerhans-cell histiocytosis	PMID:12531900
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray