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

Gene ID: 11891, updated on 8-Oct-2019

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

Genomic context

See Rab27a in Genome Data Viewer
Location:
9 D; 9 40.08 cM
Exon count:
9
Annotation release Status Assembly Chr Location
108 current 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_000075.6Genomic 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)

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
 
intracellular ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
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
NP_001288159.1
NP_001288161.1
NP_076124.1
XP_006510843.1

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, ENSMUST00000184146.7
    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, ENSMUST00000034722.4
    Conserved Domains (1) summary
    cd04127
    Location:6185
    Rab27A; Rab GTPase family 27a (Rab27a)

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 108 details...Open this link in a new tab

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

Reference GRCm38.p6 C57BL/6J

Genomic

  1. NC_000075.6 Reference GRCm38.p6 C57BL/6J

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

mRNA and Protein(s)

  1. XM_006510780.4XP_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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