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Aliases for RAB27A Gene

Aliases for RAB27A Gene

  • RAB27A, Member RAS Oncogene Family 2 3 5
  • GTP-Binding Protein Ram 3 4
  • Rab-27 3 4
  • RAB27 3 4
  • Mutant Ras-Related Protein Rab-27A 3
  • HsT18676 3
  • RAM 3
  • GS2 3

External Ids for RAB27A Gene

Previous GeneCards Identifiers for RAB27A Gene

  • GC15M051054
  • GC15M048542
  • GC15M053075
  • GC15M053211
  • GC15M053283
  • GC15M055495
  • GC15M032321

Summaries for RAB27A Gene

Entrez Gene Summary for RAB27A Gene

  • 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]

GeneCards Summary for RAB27A Gene

RAB27A (RAB27A, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB27A include Griscelli Syndrome, Type 2 and Griscelli Syndrome. Among its related pathways are wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF) and Normal wtCFTR traffic / ER-to-Golgi. GO annotations related to this gene include GTP binding and protein domain specific binding. An important paralog of this gene is RAB37.

UniProtKB/Swiss-Prot for RAB27A Gene

  • Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse.

Gene Wiki entry for RAB27A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB27A Gene

Genomics for RAB27A Gene

Regulatory Elements for RAB27A Gene

Enhancers for RAB27A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RAB27A on UCSC Golden Path with GeneCards custom track

Promoters for RAB27A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RAB27A on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the RAB27A gene promoter:

Genomic Location for RAB27A Gene

55,202,966 bp from pter
55,319,113 bp from pter
116,148 bases
Minus strand

Genomic View for RAB27A Gene

Genes around RAB27A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB27A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB27A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB27A Gene

Proteins for RAB27A Gene

  • Protein details for RAB27A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Ras-related protein Rab-27A
    Protein Accession:
    Secondary Accessions:
    • O00195
    • Q6FI40
    • Q9UIR9
    • Q9Y5U3

    Protein attributes for RAB27A Gene

    221 amino acids
    Molecular mass:
    24868 Da
    Quaternary structure:
    • Binds SYTL1, SLAC2B, MYRIP, SYTL3, SYTL4 and SYTL5. Interacts with RPH3A and RPH3A (By similarity). Binds MLPH and SYTL2. Interacts with UNC13D.

    Alternative splice isoforms for RAB27A Gene


neXtProt entry for RAB27A Gene

Proteomics data for RAB27A Gene at MOPED

Post-translational modifications for RAB27A Gene

  • Ubiquitination at Lys 33
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for RAB27A Gene

Domains & Families for RAB27A Gene

Gene Families for RAB27A Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the small GTPase superfamily. Rab family.
  • Belongs to the small GTPase superfamily. Rab family.
genes like me logo Genes that share domains with RAB27A: view

Function for RAB27A Gene

Molecular function for RAB27A Gene

GENATLAS Biochemistry:
RAB27A,RAS oncogene superfamily member,prenylated by REP1 and unprenylated in CHM patients with an alternatively polyadenylation sites
UniProtKB/Swiss-Prot Function:
Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse.
genes like me logo Genes that share phenotypes with RAB27A: view

Human Phenotype Ontology for RAB27A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for RAB27A

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for RAB27A Gene

Localization for RAB27A Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB27A Gene

Membrane; Lipid-anchor. Melanosome. Late endosome. Lysosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:12643545, PubMed:17081065). Localizes to endosomal exocytic vesicles (PubMed:17237785). {ECO:0000269 PubMed:12643545, ECO:0000269 PubMed:17081065, ECO:0000269 PubMed:17237785}.

Subcellular locations from

Jensen Localization Image for RAB27A Gene COMPARTMENTS Subcellular localization image for RAB27A gene
Compartment Confidence
endosome 5
extracellular 5
lysosome 5
vacuole 5
cytosol 4
golgi apparatus 3
plasma membrane 3
cytoskeleton 2
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for RAB27A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005770 late endosome IDA 17237785
GO:0016020 membrane IEA --
GO:0030425 dendrite IDA 11266474
genes like me logo Genes that share ontologies with RAB27A: view

Pathways & Interactions for RAB27A Gene

genes like me logo Genes that share pathways with RAB27A: view

Pathways by source for RAB27A Gene

Gene Ontology (GO) - Biological Process for RAB27A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006605 protein targeting IEA --
GO:0007165 signal transduction IEA --
GO:0007596 blood coagulation IEA --
GO:0008152 metabolic process IEA --
GO:0016192 vesicle-mediated transport IEA --
genes like me logo Genes that share ontologies with RAB27A: view

No data available for SIGNOR curated interactions for RAB27A Gene

Drugs & Compounds for RAB27A Gene

(5) Additional Compounds for RAB27A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RAB27A: view

Transcripts for RAB27A Gene

Unigene Clusters for RAB27A Gene

RAB27A, member RAS oncogene family:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RAB27A Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b
SP1: - - -
SP2: -
SP3: - -
SP4: - -

Relevant External Links for RAB27A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for RAB27A Gene

mRNA expression in normal human tissues for RAB27A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RAB27A Gene

This gene is overexpressed in Whole Blood (x10.1).

Protein differential expression in normal tissues from HIPED for RAB27A Gene

This gene is overexpressed in Monocytes (10.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RAB27A Gene

SOURCE GeneReport for Unigene cluster for RAB27A Gene Hs.654978

mRNA Expression by UniProt/SwissProt for RAB27A Gene

Tissue specificity: Found in all the examined tissues except in brain. Low expression was found in thymus, kidney, muscle and placenta. Detected in melanocytes, and in most tumor cell lines examined. Expressed in cytotoxic T-lymphocytes (CTL) and mast cells.
genes like me logo Genes that share expression patterns with RAB27A: view

Protein tissue co-expression partners for RAB27A Gene

- Elite partner

Orthologs for RAB27A Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RAB27A Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia RAB27A 35
  • 90.05 (n)
  • 94.12 (a)
-- 36
  • 93 (a)
RAB27A 36
  • 94 (a)
(Canis familiaris)
Mammalia RAB27A 35
  • 92.46 (n)
  • 95.48 (a)
RAB27A 36
  • 95 (a)
(Mus musculus)
Mammalia Rab27a 35
  • 88.08 (n)
  • 95.93 (a)
Rab27a 16
Rab27a 36
  • 96 (a)
(Pan troglodytes)
Mammalia RAB27A 35
  • 99.4 (n)
  • 98.64 (a)
RAB27A 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Rab27a 35
  • 86.88 (n)
  • 96.38 (a)
(Monodelphis domestica)
Mammalia RAB27A 36
  • 94 (a)
(Ornithorhynchus anatinus)
Mammalia RAB27A 36
  • 90 (a)
(Gallus gallus)
Aves RAB27A 35
  • 81.15 (n)
  • 92.31 (a)
RAB27A 36
  • 92 (a)
(Anolis carolinensis)
Reptilia RAB27A 36
  • 84 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia rab27a 35
  • 81.15 (n)
  • 86.88 (a)
Str.10817 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.8098 35
(Danio rerio)
Actinopterygii rab27a 35
  • 72.88 (n)
  • 85 (a)
rab27a 36
  • 84 (a)
fruit fly
(Drosophila melanogaster)
Insecta EG:80H7.4 37
  • 62 (a)
Rab27 35
  • 62.69 (n)
  • 65.91 (a)
Rab27 36
  • 49 (a)
(Caenorhabditis elegans)
Secernentea aex-6 35
  • 59.51 (n)
  • 66.49 (a)
aex-6 36
  • 61 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YPT10 36
  • 31 (a)
YPT52 36
  • 25 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 65 (a)
Species with no ortholog for RAB27A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RAB27A Gene

Gene Tree for RAB27A (if available)
Gene Tree for RAB27A (if available)

Paralogs for RAB27A Gene

genes like me logo Genes that share paralogs with RAB27A: view

Variants for RAB27A Gene

Sequence variations from dbSNP and Humsavar for RAB27A Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs28938176 Griscelli syndrome 2 (GS2) 55,230,423(-) AGTTA(G/T)GGGAC reference, missense
VAR_011334 Griscelli syndrome 2 (GS2)
VAR_011335 Griscelli syndrome 2 (GS2)
rs1050930 - 55,230,455(-) AGCCA(C/G)TGGCA reference, missense
rs4340274 - 55,228,700(+) GTCGT(A/C/T)AAGCT reference, synonymous-codon, missense

Structural Variations from Database of Genomic Variants (DGV) for RAB27A Gene

Variant ID Type Subtype PubMed ID
esv2666165 CNV Deletion 23128226
dgv2386n71 CNV Gain 21882294

Variation tolerance for RAB27A Gene

Residual Variation Intolerance Score: 42.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.13; 22.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RAB27A Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB27A Gene

Disorders for RAB27A Gene

MalaCards: The human disease database

(12) MalaCards diseases for RAB27A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
griscelli syndrome, type 2
  • griscelli syndrome type 2
griscelli syndrome
  • gs
hemophagocytic lymphohistiocytosis
  • haemophagocytic syndrome
macrophage activation syndrome
chediak-higashi syndrome
  • chediak - steinbrinck anomaly
- elite association - COSMIC cancer census association via MalaCards


  • Griscelli syndrome 2 (GS2) [MIM:607624]: Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. GS2 patients also develop an uncontrolled T-lymphocyte and macrophage activation syndrome, known as hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation. Neurological impairment is present in some patients, likely as a result of hemophagocytic syndrome. {ECO:0000269 PubMed:10835631}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RAB27A

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with RAB27A: view

No data available for Genatlas for RAB27A Gene

Publications for RAB27A Gene

  1. Deficient geranylgeranylation of Ram/Rab27 in choroideremia. (PMID: 7592656) Seabra M.C. … Anant J.S. (J. Biol. Chem. 1995) 2 3 4 67
  2. Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations. (PMID: 19953648) Meeths M. … Henter J.I. (Pediatr Blood Cancer 2010) 3 23
  3. Rab27a and Rab27b control different steps of the exosome secretion pathway. (PMID: 19966785) Ostrowski M. … Thery C. (Nat. Cell Biol. 2010) 3 23
  4. Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2. (PMID: 20370853) Ohbayashi N. … Parvaneh N. (Pigment Cell Melanoma Res 2010) 3 23
  5. Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity. (PMID: 19704116) Wood S.M. … Bryceson Y.T. (Blood 2009) 3 23

Products for RAB27A Gene

Sources for RAB27A Gene