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

    Gene ID: 11891, updated on 9-Dec-2024

    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 AllianceGenome:MGI:1861441
    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
    RS_2024_02 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)

    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 STARR-seq mESC enhancer starr_24625 Neighboring gene STARR-seq mESC enhancer starr_24627 Neighboring gene STARR-seq mESC enhancer starr_24629 Neighboring gene STARR-seq mESC enhancer starr_24630 Neighboring gene STARR-positive B cell enhancer ABC_E5086 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)

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables G protein activity  
    enables GDP binding  
    enables GDP binding  
    enables GTP binding  
    enables GTP binding PubMed 
    enables GTP binding  
    enables GTPase activity  
    enables GTPase activity PubMed 
    enables membrane scission GTPase motor activity  
    enables myosin V binding PubMed 
    enables protein binding PubMed 
    enables protein domain specific binding  
    enables protein domain specific binding  
    Items 1 - 25 of 35
    Process Evidence Code Pubs
    involved_in antigen processing and presentation  
    involved_in antigen processing and presentation  
    acts_upstream_of_or_within blood coagulation PubMed 
    involved_in complement-dependent cytotoxicity  
    involved_in complement-dependent cytotoxicity  
    acts_upstream_of_or_within cytotoxic T cell degranulation PubMed 
    involved_in exocytosis  
    involved_in exocytosis  
    involved_in exosomal secretion  
    involved_in exosomal secretion  
    acts_upstream_of_or_within melanocyte differentiation PubMed 
    involved_in melanosome localization  
    acts_upstream_of_or_within melanosome transport PubMed 
    involved_in multivesicular body organization  
    involved_in multivesicular body organization  
    involved_in multivesicular body sorting pathway  
    involved_in multivesicular body sorting pathway  
    acts_upstream_of_or_within natural killer cell degranulation PubMed 
    acts_upstream_of_or_within pigment granule localization PubMed 
    acts_upstream_of_or_within pigment granule transport PubMed 
    acts_upstream_of_or_within pigmentation PubMed 
    involved_in positive regulation of constitutive secretory pathway  
    involved_in positive regulation of constitutive secretory pathway  
    involved_in positive regulation of exocytosis  
    involved_in positive regulation of exocytosis  
    involved_in positive regulation of gene expression  
    involved_in positive regulation of gene expression  
    involved_in positive regulation of phagocytosis  
    involved_in positive regulation of phagocytosis  
    involved_in positive regulation of reactive oxygen species biosynthetic process  
    involved_in positive regulation of reactive oxygen species biosynthetic process  
    involved_in positive regulation of regulated secretory pathway  
    involved_in positive regulation of regulated secretory pathway  
    acts_upstream_of_or_within protein secretion PubMed 
    acts_upstream_of_or_within vesicle-mediated transport PubMed 
    Items 1 - 25 of 35
    Items 1 - 20 of 26
    Component Evidence Code Pubs
    is_active_in Golgi apparatus  
    located_in Golgi apparatus PubMed 
    located_in Weibel-Palade body  
    located_in Weibel-Palade body  
    is_active_in apical plasma membrane  
    located_in apical plasma membrane  
    located_in apical plasma membrane  
    located_in dendrite  
    located_in dendrite  
    is_active_in exocytic vesicle  
    located_in exocytic vesicle  
    located_in exocytic vesicle  
    located_in intracellular anatomical structure PubMed 
    located_in late endosome  
    located_in late endosome  
    located_in lysosome  
    located_in lysosome  
    is_active_in melanosome  
    located_in melanosome PubMed 
    located_in melanosome  
    located_in multivesicular body membrane  
    located_in multivesicular body membrane  
    located_in photoreceptor outer segment PubMed 
    is_active_in secretory granule  
    located_in secretory granule PubMed 
    located_in secretory granule  
    Items 1 - 20 of 26

    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: GCF_000001635.27-RS_2024_02

    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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