RAB27A (RAB27A, member RAS oncogene family)

2003-11-01  

Identity

HGNC
LOCATION
15q21.3
LOCUSID
ALIAS
GS2,HsT18676,RAB27,RAM
FUSION GENES

Other Information

Locus ID:

NCBI: 5873
MIM: 603868
HGNC: 9766
Ensembl: ENSG00000069974

Variants:

dbSNP: 5873
ClinVar: 5873
TCGA: ENSG00000069974
COSMIC: RAB27A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000069974ENST00000336787P51159
ENSG00000069974ENST00000336787A2RU94
ENSG00000069974ENST00000396307P51159
ENSG00000069974ENST00000396307A2RU94
ENSG00000069974ENST00000563262H3BUD9
ENSG00000069974ENST00000564609P51159
ENSG00000069974ENST00000564609A2RU94
ENSG00000069974ENST00000565972H3BS49
ENSG00000069974ENST00000566877H3BN55
ENSG00000069974ENST00000567380H3BVH7
ENSG00000069974ENST00000568803H3BU81
ENSG00000069974ENST00000569493P51159
ENSG00000069974ENST00000569493A2RU94

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Peptide hormone metabolismREACTOMER-HSA-2980736
Insulin processingREACTOMER-HSA-264876
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Neutrophil degranulationREACTOMER-HSA-6798695
RAB GEFs exchange GTP for GDP on RABsREACTOMER-HSA-8876198
RAB geranylgeranylationREACTOMER-HSA-8873719

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA128406956fluorouracilChemicalVariantAnnotationnot associatedPD
PA166182763emapalumabChemicalLabelAnnotationassociated
PA443560Breast NeoplasmsDiseaseVariantAnnotationnot associatedPD
PA444773LeukopeniaDiseaseVariantAnnotationnot associatedPD
PA445113NeutropeniaDiseaseVariantAnnotationnot associatedPD
PA449165cyclophosphamideChemicalVariantAnnotationnot associatedPD
PA449383docetaxelChemicalVariantAnnotationnot associatedPD
PA449476epirubicinChemicalVariantAnnotationnot associatedPD

References

Pubmed IDYearTitleCitations
211297712010An integrated approach to uncover drivers of cancer.213
119809082002A family of Rab27-binding proteins. Melanophilin links Rab27a and myosin Va function in melanosome transport.109
252612342014Cellular disposal of miR23b by RAB27-dependent exosome release is linked to acquisition of metastatic properties.91
162788252006Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.59
146991622004Munc13-4 is a GTP-Rab27-binding protein regulating dense core granule secretion in platelets.55
121221172002Functional redundancy of Rab27 proteins and the pathogenesis of Griscelli syndrome.52
183374472008Enhanced expression of Rab27A gene by breast cancer cells promoting invasiveness and the metastasis potential by secretion of insulin-like growth factor-II.47
216937602011The munc13-4-rab27 complex is specifically required for tethering secretory lysosomes at the plasma membrane.45
249342562014A neutrophil intrinsic impairment affecting Rab27a and degranulation in cystic fibrosis is corrected by CFTR potentiator therapy.44
197041162009Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity.42

Citation

Dessen P

RAB27A (RAB27A, member RAS oncogene family)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/41972/rab27a