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    Rab27a RAB27A, member RAS oncogene family [ Mus musculus (house mouse) ]

    Gene ID: 11891, updated on 18-Nov-2018

    Summary

    Official Symbol
    Rab27aprovided by MGI
    Official Full Name
    RAB27A, member RAS oncogene familyprovided by MGI
    Primary source
    MGI:MGI:1861441
    See related
    Ensembl:ENSMUSG00000032202 Vega:OTTMUSG00000044792
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    ash; 2210402C08Rik; 2410003M20Rik; 4933437C11Rik
    Summary
    The protein encoded by this gene is a member of the Rab family of proteins, which is the largest family within the Ras superfamily of GTPases. This gene product is thought to regulate vesicular transport, together with its specific effectors. Mutations in this gene cause several defects, including actin-based melanosome transport defects and immunodeficiency. Mutations in the human ortholog of this gene are associated with Griscelli syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
    Expression
    Ubiquitous expression in lung adult (RPKM 6.4), stomach adult (RPKM 4.8) and 26 other tissues See more
    Orthologs

    Genomic context

    See Rab27a in Genome Data Viewer
    Location:
    9 D; 9 40.08 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 9 NC_000075.6 (73044810..73097623)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 9 NC_000075.5 (72892672..72945399)

    Chromosome 9 - NC_000075.6Genomic Context describing neighboring genes Neighboring gene cell cycle progression 1 Neighboring gene phosphatidylinositol glycan anchor biosynthesis, class B Neighboring gene RIKEN cDNA 2310009A05 gene Neighboring gene KH domain containing 3, subcortical maternal complex member Neighboring gene ribosomal L24 domain containing 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    GDP binding ISO
    Inferred from Sequence Orthology
    more info
     
    GTP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    GTP binding ISO
    Inferred from Sequence Orthology
    more info
     
    GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    myosin V binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein domain specific binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    Rab protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    antigen processing and presentation ISO
    Inferred from Sequence Orthology
    more info
     
    blood coagulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    complement-dependent cytotoxicity ISO
    Inferred from Sequence Orthology
    more info
     
    cytotoxic T cell degranulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    exocytosis ISO
    Inferred from Sequence Orthology
    more info
     
    exosomal secretion ISO
    Inferred from Sequence Orthology
    more info
     
    intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    melanocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    melanosome localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    melanosome localization ISO
    Inferred from Sequence Orthology
    more info
     
    melanosome transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    melanosome transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    multivesicular body organization ISO
    Inferred from Sequence Orthology
    more info
     
    multivesicular body sorting pathway ISO
    Inferred from Sequence Orthology
    more info
     
    natural killer cell degranulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    pigment granule localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    pigment granule transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    pigmentation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of constitutive secretory pathway ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of exocytosis ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of gene expression ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of phagocytosis ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of reactive oxygen species biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of regulated secretory pathway ISO
    Inferred from Sequence Orthology
    more info
     
    protein targeting IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    vesicle-mediated transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Weibel-Palade body ISO
    Inferred from Sequence Orthology
    more info
     
    apical plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    dendrite ISO
    Inferred from Sequence Orthology
    more info
     
    endosome IEA
    Inferred from Electronic Annotation
    more info
     
    exocytic vesicle ISO
    Inferred from Sequence Orthology
    more info
     
    late endosome ISO
    Inferred from Sequence Orthology
    more info
     
    lysosome ISO
    Inferred from Sequence Orthology
    more info
     
    melanosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    melanosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    melanosome ISO
    Inferred from Sequence Orthology
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    multivesicular body membrane ISO
    Inferred from Sequence Orthology
    more info
     
    photoreceptor outer segment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    secretory granule IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    secretory granule IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    secretory granule ISO
    Inferred from Sequence Orthology
    more info
     
    secretory granule membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    ras-related protein Rab-27A
    Names
    ashen

    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.

    mRNA and Protein(s)

    1. NM_001301230.1NP_001288159.1  ras-related protein Rab-27A

      See identical proteins and their annotated locations for NP_001288159.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AK008798, AK010373, BE948607, BP769437, BY151058, CJ077071
      Consensus CDS
      CCDS23335.1
      UniProtKB/Swiss-Prot
      Q9ERI2
      UniProtKB/TrEMBL
      Q544U7
      Related
      ENSMUSP00000139310.1, OTTMUSP00000065780, ENSMUST00000184146.7, OTTMUST00000117733
      Conserved Domains (1) summary
      cd04127
      Location:6185
      Rab27A; Rab GTPase family 27a (Rab27a)
    2. NM_001301232.1NP_001288161.1  ras-related protein Rab-27A

      See identical proteins and their annotated locations for NP_001288161.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and represents use of an alternate promoter, compared to variant 1. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AC157513, AK008798, AK010373, BB857060, BE948607, BP769437, CV784419
      Consensus CDS
      CCDS23335.1
      UniProtKB/Swiss-Prot
      Q9ERI2
      UniProtKB/TrEMBL
      Q544U7
      Conserved Domains (1) summary
      cd04127
      Location:6185
      Rab27A; Rab GTPase family 27a (Rab27a)
    3. NM_023635.6NP_076124.1  ras-related protein Rab-27A

      See identical proteins and their annotated locations for NP_076124.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AK008798, AK010373, BE948607, BP769437, CJ077071
      Consensus CDS
      CCDS23335.1
      UniProtKB/Swiss-Prot
      Q9ERI2
      UniProtKB/TrEMBL
      Q544U7
      Related
      ENSMUSP00000034722.3, OTTMUSP00000065781, ENSMUST00000034722.4, OTTMUST00000117734
      Conserved Domains (1) summary
      cd04127
      Location:6185
      Rab27A; Rab GTPase family 27a (Rab27a)

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000075.6 Reference GRCm38.p4 C57BL/6J

      Range
      73044810..73097623
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006510780.3XP_006510843.1  ras-related protein Rab-27A isoform X1

      See identical proteins and their annotated locations for XP_006510843.1

      UniProtKB/Swiss-Prot
      Q9ERI2
      UniProtKB/TrEMBL
      Q544U7
      Conserved Domains (1) summary
      cd04127
      Location:6185
      Rab27A; Rab GTPase family 27a (Rab27a)
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