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

    Gene ID: 5873, updated on 8-Jul-2021

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See RAB27A in Genome Data Viewer
    Location:
    15q21.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (55202966..55291338, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (55495164..55582011, 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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A Common variant in RAB27A gene is associated with fractional exhaled nitric oxide levels in adults.
    GeneReviews: Not available
    Griscelli syndrome type 2
    MedGen: C1868679 OMIM: 607624 GeneReviews: Not available
    Compare labs

    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 PubChem

    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
    enables G protein activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables GDP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables GTP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables GTP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables GTPase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables myosin V binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein domain specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in antigen processing and presentation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in blood coagulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in complement-dependent cytotoxicity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cytotoxic T cell degranulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in exocytosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in exosomal secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in melanocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in melanosome localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in melanosome transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in melanosome transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in multivesicular body organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in multivesicular body sorting pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in natural killer cell degranulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of constitutive secretory pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of exocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of phagocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of reactive oxygen species biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of regulated secretory pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of regulated secretory pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein targeting IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in synaptic vesicle transport TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in Weibel-Palade body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in dendrite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in exocytic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in late endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in melanosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in melanosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in melanosome membrane TAS
    Traceable Author Statement
    more info
     
    located_in multivesicular body membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in photoreceptor outer segment IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in secretory granule IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in secretory granule membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in 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
    NP_004571.2
    NP_899057.1
    NP_899058.1
    NP_899059.1
    XP_005254633.1
    XP_011520154.1
    XP_011520156.1
    XP_011520157.1
    XP_011520158.1
    XP_024305777.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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 Updated Annotation Release 109.20210514

    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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