RAB27A

Ras-related protein Rab-27A is a protein that in humans is encoded by the RAB27A gene.^[5][6]

RAB27A
Identifiers
Aliases	RAB27A, GS2, HsT18676, RAB27, RAM, member RAS oncogene family
External IDs	OMIM: 603868; MGI: 1861441; HomoloGene: 3069; GeneCards: RAB27A; OMA:RAB27A - orthologs
Gene location (Human) Chr. Chromosome 15 (human)[1] Band 15q21.3 Start 55,202,966 bp[1] End 55,319,113 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9 D|9 40.08 cM Start 72,952,136 bp[2] End 73,004,911 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in trabecular bone monocyte lower lobe of lung bone marrow mucosa of sigmoid colon bone marrow cell blood secondary oocyte retinal pigment epithelium rectum Top expressed in granulocyte retinal pigment epithelium epithelium of stomach lacrimal gland iris salivary gland islet of Langerhans parotid gland zygote left lung lobe More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding protein domain specific binding GDP binding GTP binding myosin V binding protein binding GTPase activity Cellular component Weibel-Palade body endosome late endosome Golgi apparatus multivesicular body membrane exocytic vesicle secretory granule membrane membrane melanosome photoreceptor outer segment secretory granule dendrite apical plasma membrane lysosome extracellular exosome extracellular region cytosol melanosome membrane specific granule lumen synapse Biological process positive regulation of reactive oxygen species biosynthetic process natural killer cell degranulation protein targeting positive regulation of phagocytosis antigen processing and presentation multivesicular body sorting pathway pigment granule localization blood coagulation melanosome localization pigment granule transport positive regulation of gene expression multivesicular body organization melanosome transport positive regulation of constitutive secretory pathway synaptic vesicle transport complement-dependent cytotoxicity pigmentation cytotoxic T cell degranulation exosomal secretion positive regulation of exocytosis melanocyte differentiation vesicle-mediated transport positive regulation of regulated secretory pathway exocytosis neutrophil degranulation intracellular protein transport Rab protein signal transduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5873 11891 Ensembl ENSG00000069974 ENSMUSG00000032202 UniProt P51159 Q9ERI2 RefSeq (mRNA) NM_004580 NM_183234 NM_183235 NM_183236 NM_001301230 NM_001301232 NM_023635 RefSeq (protein) NP_004571 NP_899057 NP_899058 NP_899059 NP_001288159 NP_001288161 NP_076124 Location (UCSC) Chr 15: 55.2 – 55.32 Mb Chr 9: 72.95 – 73 Mb PubMed search [3] [4]
Wikidata
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Function

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 Griscelli syndrome type 2 and hemophagocytic lymphohistiocytosis. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified.^[6]

The RAB27A gene is regulated by the Microphthalmia-associated transcription factor.^[7][8]

Interactions

RAB27A has been shown to interact with:

• EXPH5,^[9]
• MYO5A,^[10][11]
• RPH3AL^[12][13]
• SYTL1,^[9][14][15] and
• SYTL2.^[9][14][15]

See also

• Rab27