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Aliases for RAB27A Gene

Aliases for RAB27A Gene

  • RAB27A, Member RAS Oncogene Family 2 3
  • GTP-Binding Protein Ram 3 4
  • Rab-27 3 4
  • RAB27 3 4
  • GS2 3 6
  • RAM 3 6
  • Ras-Related Protein Rab-27A 3
  • HsT18676 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 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include GTP binding and protein domain specific binding. An important paralog of this gene is RAB27B.

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

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

Genomic Location for RAB27A Gene

Start:
55,202,966 bp from pter
End:
55,319,113 bp from pter
Size:
116,148 bases
Orientation:
Minus strand

Genomic View for RAB27A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    P51159-RB27A_HUMAN
    Recommended name:
    Ras-related protein Rab-27A
    Protein Accession:
    P51159
    Secondary Accessions:
    • O00195
    • Q6FI40
    • Q9UIR9
    • Q9Y5U3

    Protein attributes for RAB27A Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for RAB27A Gene

Proteomics data for RAB27A Gene at MOPED

Post-translational modifications for RAB27A Gene

  • Ubiquitination at Lys33
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RAB27A Gene

Domains for RAB27A Gene

Gene Families for RAB27A Gene

HGNC:
  • RAB :RAB, member RAS oncogene

Graphical View of Domain Structure for InterPro Entry

P51159

UniProtKB/Swiss-Prot:

RB27A_HUMAN :
  • P51159
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.

Gene Ontology (GO) - Molecular Function for RAB27A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity ISS --
GO:0005515 protein binding IPI 12897212
GO:0005525 GTP binding ISS --
GO:0019003 GDP binding IDA 20937701
GO:0019904 protein domain specific binding IEA --
genes like me logo Genes that share ontologies with RAB27A: view
genes like me logo Genes that share phenotypes with RAB27A: view

miRNA for RAB27A Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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. Localizes to endosomal exocytic vesicles.

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for RAB27A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0005622 intracellular --
GO:0005764 lysosome IDA 15548590
GO:0005770 late endosome IDA 17237785
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with RAB27A: view

Pathways 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:0006184 obsolete GTP catabolic process --
GO:0006605 protein targeting IEA --
GO:0006886 intracellular protein transport IBA --
GO:0006887 exocytosis IDA 18812475
GO:0006904 vesicle docking involved in exocytosis IBA --
genes like me logo Genes that share ontologies with RAB27A: view

Compounds for RAB27A Gene

(5) Novoseek inferred chemical compound relationships for RAB27A Gene

Compound -log(P) Hits PubMed IDs
gtp 51.2 4
gdp 45.2 3
sodium 0 3
glucose 0 3
silver 0 1
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
RAB27A
ECgene alternative splicing isoforms for
RAB27A

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 (10.1).

Integrated Proteomics: protein expression 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

P51159-RB27A_HUMAN
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 expressions with RAB27A: view

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
chimpanzee
(Pan troglodytes)
Mammalia RAB27A 35
  • 99.4 (n)
  • 98.64 (a)
RAB27A 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 93 (a)
OneToMany
RAB27A 35
  • 90.05 (n)
  • 94.12 (a)
RAB27A 36
  • 94 (a)
OneToMany
dog
(Canis familiaris)
Mammalia RAB27A 35
  • 92.46 (n)
  • 95.48 (a)
RAB27A 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rab27a 35
  • 88.08 (n)
  • 95.93 (a)
Rab27a 16
Rab27a 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RAB27A 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAB27A 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rab27a 35
  • 86.88 (n)
  • 96.38 (a)
chicken
(Gallus gallus)
Aves RAB27A 35
  • 81.15 (n)
  • 92.31 (a)
RAB27A 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAB27A 36
  • 84 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.8098 35
tropical clawed frog
(Silurana tropicalis)
Amphibia rab27a 35
  • 81.15 (n)
  • 86.88 (a)
Str.10817 35
zebrafish
(Danio rerio)
Actinopterygii rab27a 35
  • 72.88 (n)
  • 85 (a)
rab27a 36
  • 84 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Rab27 35
  • 62.69 (n)
  • 65.91 (a)
Rab27 36
  • 49 (a)
OneToMany
EG:80H7.4 37
  • 62 (a)
worm
(Caenorhabditis elegans)
Secernentea aex-6 35
  • 59.51 (n)
  • 66.49 (a)
aex-6 36
  • 61 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YPT10 36
  • 31 (a)
ManyToMany
YPT52 36
  • 25 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 65 (a)
OneToMany
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

ENSEMBL:
Gene Tree for RAB27A (if available)
TreeFam:
Gene Tree for RAB27A (if available)

Paralogs for RAB27A Gene

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 MAF
rs475104 -- 55,241,251(-) GTAGA(C/T)AGCAC intron-variant
rs481665 -- 55,246,785(+) AAACA(C/T)GCCTC intron-variant
rs498712 -- 55,243,480(-) ACAGC(A/G)TTTCA intron-variant
rs508201 -- 55,230,526(-) TGTTA(C/G)AAGTT intron-variant
rs517707 -- 55,244,016(-) CCCAA(G/T)CTTCA intron-variant

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

Relevant External Links for RAB27A Gene

HapMap Linkage Disequilibrium report
RAB27A
Human Gene Mutation Database (HGMD)
RAB27A
Locus Specific Mutation Databases (LSDB)
RAB27A

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

Disorders for RAB27A Gene

(1) OMIM Diseases for RAB27A Gene (603868)

UniProtKB/Swiss-Prot

RB27A_HUMAN
  • 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.

(8) Novoseek inferred disease relationships for RAB27A Gene

Disease -log(P) Hits PubMed IDs
griscelli syndrome, type 2 97.4 10
piebaldism 95.1 8
lymphohistiocytosis hemophagocytic 75.9 5
familial hemophagocytic lymphohistiocytosis 71.3 2
chediak-higashi syndrome 66.9 2

Relevant External Links for RAB27A

Genetic Association Database (GAD)
RAB27A
Human Genome Epidemiology (HuGE) Navigator
RAB27A
genes like me logo Genes that share disorders with RAB27A: view

Publications for RAB27A Gene

  1. Molecular cloning and characterization of rab27a and rab27b, novel human rab proteins shared by melanocytes and platelets. (PMID: 9066979) Chen D. … Gahl W.A. (Biochem. Mol. Med. 1997) 3 4 23
  2. Cloning, mapping and characterization of the human RAB27A gene. (PMID: 10571040) Tolmachova T. … Seabra M.C. (Gene 1999) 3 4 23
  3. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. (PMID: 10835631) Menasche G. … de Saint Basile G. (Nat. Genet. 2000) 3 4 23
  4. Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients. (PMID: 12446441) Menasche G. … de Saint Basile G. (Blood 2003) 3 4 23
  5. Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome. (PMID: 12531900) Bahadoran P. … Ballotti R. (J. Biol. Chem. 2003) 3 4 23

Products for RAB27A Gene

Sources for RAB27A Gene

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