RAB7A (RAB7A, member RAS oncogene family)

2003-11-01  

Identity

HGNC
LOCATION
3q21.3
LOCUSID
ALIAS
CMT2B,PRO2706,RAB7
FUSION GENES

Other Information

Locus ID:

NCBI: 7879
MIM: 602298
HGNC: 9788
Ensembl: ENSG00000075785

Variants:

dbSNP: 7879
ClinVar: 7879
TCGA: ENSG00000075785
COSMIC: RAB7A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000075785ENST00000265062P51149
ENSG00000075785ENST00000265062A0A158RFU6
ENSG00000075785ENST00000464496C9J592
ENSG00000075785ENST00000482525C9J8S3
ENSG00000075785ENST00000483906C9J4V0
ENSG00000075785ENST00000485280C9J7D1
ENSG00000075785ENST00000490093C9IZZ0
ENSG00000075785ENST00000493186C9J4S4

Expression (GTEx)

0
50
100
150
200
250
300
350
400

Pathways

PathwaySourceExternal ID
Autophagy - animalKEGGko04140
Autophagy - animalKEGGhsa04140
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
AmoebiasisKEGGko05146
AmoebiasisKEGGhsa05146
TuberculosisKEGGko05152
TuberculosisKEGGhsa05152
Salmonella infectionKEGGko05132
Salmonella infectionKEGGhsa05132
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
MHC class II antigen presentationREACTOMER-HSA-2132295
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
TBC/RABGAPsREACTOMER-HSA-8854214
RAB geranylgeranylationREACTOMER-HSA-8873719
Mitophagy - animalKEGGko04137
Mitophagy - animalKEGGhsa04137

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
153400142004Role for Rab7 in maturation of late autophagic vacuoles.339
195644042009Cholesterol sensor ORP1L contacts the ER protein VAP to control Rab7-RILP-p150 Glued and late endosome positioning.195
125454262003Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy.128
209749682010Rubicon controls endosome maturation as a Rab7 effector.93
293648682018Mitochondria-lysosome contacts regulate mitochondrial fission via RAB7 GTP hydrolysis.87
255655812015The small GTPase Rab7 as a central regulator of hepatocellular lipophagy.68
182726842008Functional characterization of Rab7 mutant proteins associated with Charcot-Marie-Tooth type 2B disease.66
250805042014LRRK2 delays degradative receptor trafficking by impeding late endosomal budding through decreasing Rab7 activity.64
226731152012Identification of Alzheimer disease-associated variants in genes that regulate retromer function.63
161769802005The oxysterol-binding protein homologue ORP1L interacts with Rab7 and alters functional properties of late endocytic compartments.61

Citation

Dessen P

RAB7A (RAB7A, member RAS oncogene family)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/42007/rab7a