ATP5MC3 (ATP synthase membrane subunit c locus 3)

2018-11-01  

Identity

HGNC
ATP5MC3
LOCATION
2q31.1
LOCUSID
518
ALIAS
ATP5G3,P3

Other Information

Locus ID:

NCBI: 518
MIM: 602736
HGNC: 843
Ensembl: ENSG00000154518

Variants:

dbSNP: 518
ClinVar: 518
TCGA: ENSG00000154518
COSMIC: ATP5MC3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000154518ENST00000284727P48201
ENSG00000154518ENST00000392541P48201
ENSG00000154518ENST00000409194P48201

Pathways

PathwaySourceExternal ID
Oxidative phosphorylationKEGGko00190
Alzheimer's diseaseKEGGko05010
Huntington's diseaseKEGGko05016
Oxidative phosphorylationKEGGhsa00190
Alzheimer's diseaseKEGGhsa05010
Parkinson's diseaseKEGGhsa05012
Huntington's diseaseKEGGhsa05016
Metabolic pathwaysKEGGhsa01100
F-type ATPase, eukaryotesKEGGhsa_M00158
F-type ATPase, eukaryotesKEGGM00158
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.REACTOMER-HSA-163200
Formation of ATP by chemiosmotic couplingREACTOMER-HSA-163210

References

Pubmed IDYearTitleCitations
282892292017Persistence of the mitochondrial permeability transition in the absence of subunit c of human ATP synthase.129
282892292017Persistence of the mitochondrial permeability transition in the absence of subunit c of human ATP synthase.129
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20

Citation

Dessen P

ATP5MC3 (ATP synthase membrane subunit c locus 3)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/80566/gene-fusions-explorer/css/case-report-explorer/