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RAB27A RAB27A, member RAS oncogene family [ Homo sapiens (human) ]

Gene ID: 5873, updated on 5-Sep-2021

Summary

Official Symbol
RAB27Aprovided by HGNC
Official Full Name
RAB27A, member RAS oncogene familyprovided by HGNC
Primary source
HGNC:HGNC:9766
See related
Ensembl:ENSG00000069974 MIM:603868
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GS2; RAM; RAB27; HsT18676
Summary
The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
Expression
Broad expression in stomach (RPKM 20.4), prostate (RPKM 17.9) and 23 other tissues See more
Orthologs
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Genomic context

See RAB27A in Genome Data Viewer
Location:
15q21.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (55202966..55291338, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (55495164..55582011, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370829 Neighboring gene ribosomal L24 domain containing 1 Neighboring gene Sharpr-MPRA regulatory region 6285 Neighboring gene PIGB opposite strand 1 Neighboring gene DNAAF4-CCPG1 readthrough (NMD candidate) Neighboring gene phosphatidylinositol glycan anchor biosynthesis class B Neighboring gene cell cycle progression 1 Neighboring gene microRNA 628

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A Common variant in RAB27A gene is associated with fractional exhaled nitric oxide levels in adults.
GeneReviews: Not available
Griscelli syndrome type 2
MedGen: C1868679 OMIM: 607624 GeneReviews: Not available
Compare labs

HIV-1 interactions

Replication interactions

Interaction Pubs
Silencing of Rab27a by shRNA inhibits HIV-1 replication in CD4+ T-cells and monocyte-derived macrophages PubMed

Protein interactions

Protein Gene Interaction Pubs
Pr55(Gag) gag SLP2 is a Rab27a effector required for HIV-1 Gag assembly at the plasma membrane in Jurkat cells PubMed
gag Rab27a is required for the proper targeting of HIV-1 Gag to the plasma membrane and for the reorganization of the CD81-enriched microdomains in Jurkat cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC117246

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
ras-related protein Rab-27A
Names
GTP-binding protein Ram
mutant Ras-related protein Rab-27A
rab-27
NP_004571.2
NP_899057.1
NP_899058.1
NP_899059.1
XP_005254633.1
XP_011520154.1
XP_011520156.1
XP_011520157.1
XP_011520158.1
XP_024305777.1

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.

Genomic

  1. NG_009103.1 RefSeqGene

    Range
    4989..91838
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_96

mRNA and Protein(s)

  1. NM_004580.5NP_004571.2  ras-related protein Rab-27A

    See identical proteins and their annotated locations for NP_004571.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, 3 and 4 encode the same isoform.
    Source sequence(s)
    AC011912, AC018926, CA437806, DA182503, U38654
    Consensus CDS
    CCDS10153.1
    UniProtKB/Swiss-Prot
    P51159
    UniProtKB/TrEMBL
    A2RU94
    Related
    ENSP00000379601.2, ENST00000396307.6
    Conserved Domains (1) summary
    cd04127
    Location:6185
    Rab27A; Rab GTPase family 27a (Rab27a)
  2. NM_183234.2NP_899057.1  ras-related protein Rab-27A

    See identical proteins and their annotated locations for NP_899057.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform.
    Source sequence(s)
    AC011912, AF125393, AK312836, CA437806, DA182503
    Consensus CDS
    CCDS10153.1
    UniProtKB/Swiss-Prot
    P51159
    UniProtKB/TrEMBL
    A2RU94
    Related
    ENSP00000455012.1, ENST00000564609.5
    Conserved Domains (1) summary
    cd04127
    Location:6185
    Rab27A; Rab GTPase family 27a (Rab27a)
  3. NM_183235.3NP_899058.1  ras-related protein Rab-27A

    See identical proteins and their annotated locations for NP_899058.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform.
    Source sequence(s)
    AC011912, AK312836, CA437806, DA553342
    Consensus CDS
    CCDS10153.1
    UniProtKB/Swiss-Prot
    P51159
    UniProtKB/TrEMBL
    A2RU94
    Related
    ENSP00000337761.1, ENST00000336787.6
    Conserved Domains (1) summary
    cd04127
    Location:6185
    Rab27A; Rab GTPase family 27a (Rab27a)
  4. NM_183236.3NP_899059.1  ras-related protein Rab-27A

    See identical proteins and their annotated locations for NP_899059.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform.
    Source sequence(s)
    AC011912, AC018926, BC107680, CA437806
    Consensus CDS
    CCDS10153.1
    UniProtKB/Swiss-Prot
    P51159
    UniProtKB/TrEMBL
    A2RU94
    Related
    ENSP00000456059.1, ENST00000569493.5
    Conserved Domains (1) summary
    cd04127
    Location:6185
    Rab27A; Rab GTPase family 27a (Rab27a)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    55202966..55291338 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005254576.5XP_005254633.1  ras-related protein Rab-27A isoform X1

    See identical proteins and their annotated locations for XP_005254633.1

    UniProtKB/Swiss-Prot
    P51159
    UniProtKB/TrEMBL
    A2RU94
    Conserved Domains (1) summary
    cd04127
    Location:6185
    Rab27A; Rab GTPase family 27a (Rab27a)
  2. XM_011521854.1XP_011520156.1  ras-related protein Rab-27A isoform X1

    See identical proteins and their annotated locations for XP_011520156.1

    UniProtKB/Swiss-Prot
    P51159
    UniProtKB/TrEMBL
    A2RU94
    Conserved Domains (1) summary
    cd04127
    Location:6185
    Rab27A; Rab GTPase family 27a (Rab27a)
  3. XM_011521852.1XP_011520154.1  ras-related protein Rab-27A isoform X1

    See identical proteins and their annotated locations for XP_011520154.1

    UniProtKB/Swiss-Prot
    P51159
    UniProtKB/TrEMBL
    A2RU94
    Conserved Domains (1) summary
    cd04127
    Location:6185
    Rab27A; Rab GTPase family 27a (Rab27a)
  4. XM_011521855.3XP_011520157.1  ras-related protein Rab-27A isoform X1

    See identical proteins and their annotated locations for XP_011520157.1

    UniProtKB/Swiss-Prot
    P51159
    UniProtKB/TrEMBL
    A2RU94
    Conserved Domains (1) summary
    cd04127
    Location:6185
    Rab27A; Rab GTPase family 27a (Rab27a)
  5. XM_024450009.1XP_024305777.1  ras-related protein Rab-27A isoform X1

    Conserved Domains (1) summary
    cd04127
    Location:6185
    Rab27A; Rab GTPase family 27a (Rab27a)
  6. XM_011521856.2XP_011520158.1  ras-related protein Rab-27A isoform X1

    See identical proteins and their annotated locations for XP_011520158.1

    UniProtKB/Swiss-Prot
    P51159
    UniProtKB/TrEMBL
    A2RU94
    Related
    ENSP00000454695.1, ENST00000566877.5
    Conserved Domains (1) summary
    cd04127
    Location:6185
    Rab27A; Rab GTPase family 27a (Rab27a)
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