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

    Gene ID: 11891, updated on 6-Sep-2021

    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
    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
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    Genomic context

    See Rab27a in Genome Data Viewer
    Location:
    9 D; 9 40.08 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (72952092..73004905)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (73044810..73097623)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 9 NC_000075.5 (72892672..72945399)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene cell cycle progression 1 Neighboring gene phosphatidylinositol glycan anchor biosynthesis, class B Neighboring gene Pigb opposite strand 1 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 Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Spontaneous (2)  1 citation
    • Targeted (1) 
    • Chemically induced (ENU) (4)  1 citation
    • Endonuclease-mediated (1) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Homology

    Gene Ontology Provided by MGI

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

    General protein information

    Preferred Names
    ras-related protein Rab-27A
    Names
    ashen
    NP_001288159.1
    NP_001288161.1
    NP_076124.1
    XP_006510843.1

    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.

    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
      ENSMUSP00000139310.2, ENSMUST00000184146.8
      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
      ENSMUSP00000034722.4, ENSMUST00000034722.5
      Conserved Domains (1) summary
      cd04127
      Location:6185
      Rab27A; Rab GTPase family 27a (Rab27a)

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      72952092..73004905
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006510780.5XP_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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