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

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: human all
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Genomic context

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_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
SMC3 epigenetic silencing regulates Rab27a expression and drives pancreatic cancer progression.
Title: SMC3 epigenetic silencing regulates Rab27a expression and drives pancreatic cancer progression.
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.
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.
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.
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.
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.
Rab27a Contributes to Cathepsin S Secretion in Lacrimal Gland Acinar Cells.
Title: Rab27a Contributes to Cathepsin S Secretion in Lacrimal Gland Acinar Cells.
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.
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)

Chemically induced (ENU) (4) 1 citation
Endonuclease-mediated (8) 1 citation
Spontaneous (2) 1 citation
Targeted (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 membrane scission GTPase motor activity	IEA Inferred from Electronic Annotation more info
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

EC 3.6.5.2

NP_001288161.1

EC 3.6.5.2

NP_076124.1

EC 3.6.5.2

XP_006510843.1

EC 3.6.5.2

NCBI Reference Sequences (RefSeq)

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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)

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

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)
NM_001301232.1 → NP_001288161.1 ras-related protein Rab-27A

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)
NM_023635.6 → NP_076124.1 ras-related protein Rab-27A

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

NC_000075.7 Reference GRCm39 C57BL/6J

Range

72952092..73004905

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006510780.5 → XP_006510843.1 ras-related protein Rab-27A isoform X1

UniProtKB/Swiss-Prot

Q9ERI2

UniProtKB/TrEMBL

Q544U7

Conserved Domains (1) summary

cd04127
Location:6 → 185

Rab27A; Rab GTPase family 27a (Rab27a)