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

Gene ID: 11891, updated on 28-Oct-2024

Summary

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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
human all
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data 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

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Related articles in PubMed

  1. The absence of Rab27a accelerates the degradation of Melanophilin. Park JI, et al. Exp Dermatol, 2019 Jan. PMID 30417443
  2. Rab27a GTPase modulates L-type Ca2+ channel function via interaction with the II-III linker of CaV1.3 subunit. Reichhart N, et al. Cell Signal, 2015 Nov. PMID 26235199
  3. Rab27A Is Present in Mouse Pancreatic Acinar Cells and Is Required for Digestive Enzyme Secretion. Hou Y, et al. PLoS One, 2015. PMID 25951179, Free PMC Article
  4. Rab27A regulates transport of cell surface receptors modulating multinucleation and lysosome-related organelles in osteoclasts. Shimada-Sugawara M, et al. Sci Rep, 2015 Apr 16. PMID 25882854, Free PMC Article
  5. Relationship between a retroviral germ line reintegration and a new mutation at the ashen locus in B10.F mice. Retroviral integration and an ashen mutation. Langdon WY, et al. Virology, 1984 Feb. PMID 6322428

See all (159) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Effects of a Global Rab27a Null Mutation on Murine PVAT and Cardiovascular Function.
    Title: Effects of a Global Rab27a Null Mutation on Murine PVAT and Cardiovascular Function.
  2. SMC3 epigenetic silencing regulates Rab27a expression and drives pancreatic cancer progression.
    Title: SMC3 epigenetic silencing regulates Rab27a expression and drives pancreatic cancer progression.
  3. Lack of Rab27a attenuates foam cell formation and macrophage inflammation in uremic apolipoprotein E knockout mice.
    Title: Lack of Rab27a attenuates foam cell formation and macrophage inflammation in uremic apolipoprotein E knockout mice.
  4. Novel RAB27A Variant Associated with Late-Onset Hemophagocytic Lymphohistiocytosis Alters Effector Protein Binding.
    Title: Novel RAB27A Variant Associated with Late-Onset Hemophagocytic Lymphohistiocytosis Alters Effector Protein Binding.
  5. Rab27a-dependent exosomes protect against cerebral ischemic injury by reducing endothelial oxidative stress and apoptosis.
    Title: Rab27a-dependent exosomes protect against cerebral ischemic injury by reducing endothelial oxidative stress and apoptosis.
  6. Deletion in chromosome 6 spanning alpha-synuclein and multimerin1 loci in the Rab27a/b double knockout mouse.
    Title: Deletion in chromosome 6 spanning alpha-synuclein and multimerin1 loci in the Rab27a/b double knockout mouse.
  7. Rab27a-Dependent Paracrine Communication Controls Dendritic Spine Formation and Sensory Responses in the Barrel Cortex.
    Title: Rab27a-Dependent Paracrine Communication Controls Dendritic Spine Formation and Sensory Responses in the Barrel Cortex.
  8. Rab27a Contributes to Cathepsin S Secretion in Lacrimal Gland Acinar Cells.
    Title: Rab27a Contributes to Cathepsin S Secretion in Lacrimal Gland Acinar Cells.
  9. Rab27a deletion impairs the therapeutic potential of endothelial progenitor cells for myocardial infarction.
    Title: Rab27a deletion impairs the therapeutic potential of endothelial progenitor cells for myocardial infarction.
  10. Rab27A promotes cellular apoptosis and ROS production by regulating the miRNA-124-3p/STAT3/RelA signalling pathway in ulcerative colitis.
    Title: Rab27A promotes cellular apoptosis and ROS production by regulating the miRNA-124-3p/STAT3/RelA signalling pathway in ulcerative colitis.
Submit: New GeneRIF Correction See all GeneRIFs (72)

Variation

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Alleles

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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 GDP binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables GTP binding IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GTPase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables myosin V binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein domain specific binding IEA
Inferred from Electronic Annotation
more info
  
enables protein domain specific binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in antigen processing and presentation IEA
Inferred from Electronic Annotation
more info
  
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 IEA
Inferred from Electronic Annotation
more info
  
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 IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in exocytosis ISO
Inferred from Sequence Orthology
more info
  
involved_in exosomal secretion IEA
Inferred from Electronic Annotation
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 
involved_in melanosome localization ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within melanosome transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in multivesicular body organization IEA
Inferred from Electronic Annotation
more info
  
involved_in multivesicular body organization ISO
Inferred from Sequence Orthology
more info
  
involved_in multivesicular body sorting pathway IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
more info
  
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
  
involved_in positive regulation of exocytosis ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of gene expression ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of phagocytosis IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of regulated secretory pathway ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within protein secretion 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
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in Weibel-Palade body IEA
Inferred from Electronic Annotation
more info
  
located_in Weibel-Palade body ISO
Inferred from Sequence Orthology
more info
  
is_active_in apical plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in apical plasma membrane IEA
Inferred from Electronic Annotation
more info
  
located_in apical plasma membrane ISO
Inferred from Sequence Orthology
more info
  
located_in dendrite IEA
Inferred from Electronic Annotation
more info
  
located_in dendrite ISO
Inferred from Sequence Orthology
more info
  
is_active_in exocytic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in exocytic vesicle 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 late endosome ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in lysosome IEA
Inferred from Electronic Annotation
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
  
located_in melanosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in melanosome ISO
Inferred from Sequence Orthology
more info
  
located_in multivesicular body 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
  
located_in secretory granule IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in secretory granule ISO
Inferred from Sequence Orthology
more info
  

General protein information

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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)

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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_001301230.1 → NP_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:6 → 185
    Rab27A; Rab GTPase family 27a (Rab27a)

  2. NM_001301232.1 → NP_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:6 → 185
    Rab27A; Rab GTPase family 27a (Rab27a)

  3. NM_023635.6 → NP_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:6 → 185
    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_006510780.5 → XP_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:6 → 185
    Rab27A; Rab GTPase family 27a (Rab27a)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9ERI2.1 GenPept UniProtKB/Swiss-Prot:Q9ERI2

Gene LinkOut

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