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RAB27A (RAB27A, member RAS oncogene family)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5873
Gene nameGene Name - the full gene name approved by the HGNC.
RAB27A, member RAS oncogene family
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
RAB27A
SynonymsGene synonyms aliases
GS2, HsT18676, RAB27, RAM
ChromosomeChromosome number
15
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q21.3
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28938176 A>C Pathogenic Missense variant, coding sequence variant
rs104894497 C>G,T Likely-pathogenic, uncertain-significance Missense variant, coding sequence variant
rs104894498 A>G Pathogenic Missense variant, coding sequence variant
rs104894499 C>G,T Pathogenic Missense variant, coding sequence variant
rs104894500 G>A,T Pathogenic Missense variant, coding sequence variant, stop gained
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022236 hsa-miR-124-3p Microarray 18668037
MIRT024773 hsa-miR-215-5p Microarray 19074876
MIRT026172 hsa-miR-192-5p Microarray 19074876
MIRT028890 hsa-miR-26b-5p Microarray 19088304
MIRT053752 hsa-miR-31-5p Immunoblot, Immunohistochemistry, Luciferase reporter assay, qRT-PCR 22948084
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001750 Component Photoreceptor outer segment IEA
GO:0003924 Function GTPase activity ISS
GO:0005515 Function Protein binding IPI 12897212, 15186776, 15548590, 16278825, 17045265, 18266782, 18812475, 22899725, 25312756, 30771381, 32296183
GO:0005525 Function GTP binding IDA 9066979
GO:0005525 Function GTP binding ISS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P51159
Protein name Ras-related protein Rab-27A (Rab-27) (EC 3.6.5.2) (GTP-binding protein Ram)
Protein function Small GTPase which cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate homeostasis of late endocytic pathway, including endosomal positioning, maturation and sec
PDB 6HUF , 7OPP , 7OPQ , 7OPR , 8P3G , 8P3H , 8P3I , 8P3J , 8P3K
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras
11 183
Ras family
Domain
Sequence
Sequence length 221
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Neutrophil degranulation
RAB geranylgeranylation
RAB GEFs exchange GTP for GDP on RABs
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Glioma Glioma rs121909219, rs121909224, rs587776667, rs587776671, rs121909239, rs121909241, rs28933368, rs121913500, rs55863639, rs786201995, rs786202517, rs786201044, rs398123317, rs1057518425, rs121913499, rs1060500122, rs781647403, rs1060500126, rs1554897889, rs1114167629, rs1114167656, rs587782603, rs1554893824, rs1554900615, rs1564568660, rs786204900, rs762518389, rs1339631701 30714141
Griscelli syndrome GRISCELLI SYNDROME, TYPE 2, Griscelli syndrome type 2 rs119473031, rs28938176, rs1595695268, rs104894498, rs104894499, rs1595700039, rs104894500, rs764371254, rs786205551, rs786205641, rs767481076, rs753966933, rs200956636, rs1555394745, rs770601673, rs769021352, rs756071120, rs140470472, rs766575263 10835631, 18397837, 15548590, 25544030, 12531900, 15163896, 12446441, 23160464, 19030707, 19953648, 16278825, 26880764, 25500851, 15475639, 25071262, 27016801
Hyperlipidemia Hyperlipidemia rs118204057, rs118204060, rs118204062, rs1563569634, rs118204069, rs118204070, rs118204071, rs3737787, rs2073658, rs1566946168, rs1064797075
Neutropenia Neutropenia rs879253882
Unknown
Disease name Disease term dbSNP ID References
Acrocephalopolydactyly Acrocephalopolydactylous Dysplasia 18489042
Histiocytosis haematophagic Histiocytosis haematophagic
Hypopigmentation disorder Hypopigmentation disorder
Hypopigmentation-immunodeficiency disease Hypopigmentation-immunodeficiency disease 10835631, 18350256, 26684649, 16551969, 19953648

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