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RAB27A RAB27A, member RAS oncogene family [ Homo sapiens (human) ]

Gene ID: 5873, updated on 17-Jun-2019

Summary

Official Symbol
RAB27Aprovided by HGNC
Official Full Name
RAB27A, member RAS oncogene familyprovided by HGNC
Primary source
HGNC:HGNC:9766
See related
Ensembl:ENSG00000069974 MIM:603868
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GS2; RAM; RAB27; HsT18676
Summary
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. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
Expression
Broad expression in stomach (RPKM 20.4), prostate (RPKM 17.9) and 23 other tissues See more
Orthologs

Genomic context

See RAB27A in Genome Data Viewer
Location:
15q21.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (55202966..55291338, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (55495164..55582034, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370829 Neighboring gene ribosomal L24 domain containing 1 Neighboring gene Sharpr-MPRA regulatory region 6285 Neighboring gene PIGB opposite strand 1 Neighboring gene DNAAF4-CCPG1 readthrough (NMD candidate) Neighboring gene phosphatidylinositol glycan anchor biosynthesis class B Neighboring gene cell cycle progression 1 Neighboring gene microRNA 628

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Griscelli syndrome type 2
MedGen: C1868679 OMIM: 607624 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
A Common variant in RAB27A gene is associated with fractional exhaled nitric oxide levels in adults.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Silencing of Rab27a by shRNA inhibits HIV-1 replication in CD4+ T-cells and monocyte-derived macrophages PubMed

Protein interactions

Protein Gene Interaction Pubs
Pr55(Gag) gag SLP2 is a Rab27a effector required for HIV-1 Gag assembly at the plasma membrane in Jurkat cells PubMed
gag Rab27a is required for the proper targeting of HIV-1 Gag to the plasma membrane and for the reorganization of the CD81-enriched microdomains in Jurkat cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Deregulation of Rab and Rab Effector Genes in Bladder Cancer, organism-specific biosystem (from WikiPathways)
    Deregulation of Rab and Rab Effector Genes in Bladder Cancer, organism-specific biosystemExample of the Rab27 cluster. The Rab27 cluster is comprised of the two RAB27 isoforms (RAB27A and RAB27B), the GEF MADD, the GAP TBC1D10A and 12 effector proteins
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Insulin processing, organism-specific biosystem (from REACTOME)
    Insulin processing, organism-specific biosystemThe generation of insulin-containing secretory granules from proinsulin in the lumen of the endoplasmic reticulum (ER) can be described in 4 steps: formation of intramolecular disulfide bonds, format...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
  • Peptide hormone metabolism, organism-specific biosystem (from REACTOME)
    Peptide hormone metabolism, organism-specific biosystemPeptide hormones are cleaved from larger precursors in the secretory system (endoplasmic reticulum, Golgi apparatus, secretory granules) of the cell. After secretion peptide hormones are modified and...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystem (from REACTOME)
    RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystemHuman cells have more than 60 RAB proteins that are key regulators of intracellular membrane trafficking. These small GTPases contribute to trafficking specificity by localizing to the membranes of d...
  • RAB geranylgeranylation, organism-specific biosystem (from REACTOME)
    RAB geranylgeranylation, organism-specific biosystemHuman cells have more than 60 RAB proteins that are involved in trafficking of proteins in the endolysosomal system. These small GTPases contribute to trafficking specificity by localizing to the mem...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC117246

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GDP binding IDA
Inferred from Direct Assay
more info
PubMed 
GTP binding IDA
Inferred from Direct Assay
more info
PubMed 
GTP binding ISS
Inferred from Sequence or Structural Similarity
more info
 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
myosin V binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Rab protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
antigen processing and presentation IMP
Inferred from Mutant Phenotype
more info
PubMed 
blood coagulation IEA
Inferred from Electronic Annotation
more info
 
complement-dependent cytotoxicity IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytotoxic T cell degranulation IEA
Inferred from Electronic Annotation
more info
 
exocytosis IDA
Inferred from Direct Assay
more info
PubMed 
exosomal secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
melanocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
melanosome localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
melanosome transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
melanosome transport NAS
Non-traceable Author Statement
more info
PubMed 
multivesicular body organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
multivesicular body sorting pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
natural killer cell degranulation IEA
Inferred from Electronic Annotation
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
positive regulation of constitutive secretory pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of exocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of phagocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of reactive oxygen species biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of regulated secretory pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of regulated secretory pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein targeting IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle transport TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
Weibel-Palade body IEA
Inferred from Electronic Annotation
more info
 
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
dendrite IDA
Inferred from Direct Assay
more info
PubMed 
exocytic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
late endosome IDA
Inferred from Direct Assay
more info
PubMed 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
melanosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
melanosome IDA
Inferred from Direct Assay
more info
PubMed 
melanosome membrane TAS
Traceable Author Statement
more info
 
multivesicular body membrane IDA
Inferred from Direct Assay
more info
PubMed 
photoreceptor outer segment IEA
Inferred from Electronic Annotation
more info
 
secretory granule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
secretory granule membrane IEA
Inferred from Electronic Annotation
more info
 
specific granule lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ras-related protein Rab-27A
Names
GTP-binding protein Ram
mutant Ras-related protein Rab-27A
rab-27

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009103.1 RefSeqGene

    Range
    4989..91838
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_96

mRNA and Protein(s)

  1. NM_004580.5NP_004571.2  ras-related protein Rab-27A

    See identical proteins and their annotated locations for NP_004571.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, 3 and 4 encode the same isoform.
    Source sequence(s)
    AC011912, AC018926, CA437806, DA182503, U38654
    Consensus CDS
    CCDS10153.1
    UniProtKB/Swiss-Prot
    P51159
    UniProtKB/TrEMBL
    A2RU94
    Related
    ENSP00000379601.2, ENST00000396307.6
    Conserved Domains (1) summary
    cd04127
    Location:6185
    Rab27A; Rab GTPase family 27a (Rab27a)
  2. NM_183234.2NP_899057.1  ras-related protein Rab-27A

    See identical proteins and their annotated locations for NP_899057.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform.
    Source sequence(s)
    AC011912, AF125393, AK312836, CA437806, DA182503
    Consensus CDS
    CCDS10153.1
    UniProtKB/Swiss-Prot
    P51159
    UniProtKB/TrEMBL
    A2RU94
    Related
    ENSP00000455012.1, ENST00000564609.5
    Conserved Domains (1) summary
    cd04127
    Location:6185
    Rab27A; Rab GTPase family 27a (Rab27a)
  3. NM_183235.3NP_899058.1  ras-related protein Rab-27A

    See identical proteins and their annotated locations for NP_899058.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform.
    Source sequence(s)
    AC011912, AK312836, CA437806, DA553342
    Consensus CDS
    CCDS10153.1
    UniProtKB/Swiss-Prot
    P51159
    UniProtKB/TrEMBL
    A2RU94
    Related
    ENSP00000337761.1, ENST00000336787.6
    Conserved Domains (1) summary
    cd04127
    Location:6185
    Rab27A; Rab GTPase family 27a (Rab27a)
  4. NM_183236.3NP_899059.1  ras-related protein Rab-27A

    See identical proteins and their annotated locations for NP_899059.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform.
    Source sequence(s)
    AC011912, AC018926, BC107680, CA437806
    Consensus CDS
    CCDS10153.1
    UniProtKB/Swiss-Prot
    P51159
    UniProtKB/TrEMBL
    A2RU94
    Related
    ENSP00000456059.1, ENST00000569493.5
    Conserved Domains (1) summary
    cd04127
    Location:6185
    Rab27A; Rab GTPase family 27a (Rab27a)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    55202966..55291338 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005254576.5XP_005254633.1  ras-related protein Rab-27A isoform X1

    See identical proteins and their annotated locations for XP_005254633.1

    UniProtKB/Swiss-Prot
    P51159
    UniProtKB/TrEMBL
    A2RU94
    Conserved Domains (1) summary
    cd04127
    Location:6185
    Rab27A; Rab GTPase family 27a (Rab27a)
  2. XM_011521854.1XP_011520156.1  ras-related protein Rab-27A isoform X1

    See identical proteins and their annotated locations for XP_011520156.1

    UniProtKB/Swiss-Prot
    P51159
    UniProtKB/TrEMBL
    A2RU94
    Conserved Domains (1) summary
    cd04127
    Location:6185
    Rab27A; Rab GTPase family 27a (Rab27a)
  3. XM_011521852.1XP_011520154.1  ras-related protein Rab-27A isoform X1

    See identical proteins and their annotated locations for XP_011520154.1

    UniProtKB/Swiss-Prot
    P51159
    UniProtKB/TrEMBL
    A2RU94
    Conserved Domains (1) summary
    cd04127
    Location:6185
    Rab27A; Rab GTPase family 27a (Rab27a)
  4. XM_011521855.3XP_011520157.1  ras-related protein Rab-27A isoform X1

    See identical proteins and their annotated locations for XP_011520157.1

    UniProtKB/Swiss-Prot
    P51159
    UniProtKB/TrEMBL
    A2RU94
    Conserved Domains (1) summary
    cd04127
    Location:6185
    Rab27A; Rab GTPase family 27a (Rab27a)
  5. XM_024450009.1XP_024305777.1  ras-related protein Rab-27A isoform X1

    Conserved Domains (1) summary
    cd04127
    Location:6185
    Rab27A; Rab GTPase family 27a (Rab27a)
  6. XM_011521856.2XP_011520158.1  ras-related protein Rab-27A isoform X1

    See identical proteins and their annotated locations for XP_011520158.1

    UniProtKB/Swiss-Prot
    P51159
    UniProtKB/TrEMBL
    A2RU94
    Related
    ENSP00000454695.1, ENST00000566877.5
    Conserved Domains (1) summary
    cd04127
    Location:6185
    Rab27A; Rab GTPase family 27a (Rab27a)
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