ATP5MC1 (ATP synthase membrane subunit c locus 1)

2018-11-01  

Identity

HGNC
ATP5MC1
LOCATION
17q21.32
LOCUSID
516
ALIAS
ATP5A,ATP5G,ATP5G1

Other Information

Locus ID:

NCBI: 516
MIM: 603192
HGNC: 841
Ensembl: ENSG00000159199

Variants:

dbSNP: 516
ClinVar: 516
TCGA: ENSG00000159199
COSMIC: ATP5MC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000159199ENST00000355938P05496
ENSG00000159199ENST00000355938Q6FIH7
ENSG00000159199ENST00000393366P05496
ENSG00000159199ENST00000393366Q6FIH7
ENSG00000159199ENST00000503641E7EPU7
ENSG00000159199ENST00000504591I3L0Y5
ENSG00000159199ENST00000506855E7EQ97
ENSG00000159199ENST00000514808D6R9H7

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
Metabolism of proteinsREACTOMER-HSA-392499
Mitochondrial protein importREACTOMER-HSA-1268020
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
338528702021A naturally occurring mutation in ATP synthase subunit c is associated with increased damage following hypoxia/reoxygenation in STEMI patients.14
338528702021A naturally occurring mutation in ATP synthase subunit c is associated with increased damage following hypoxia/reoxygenation in STEMI patients.14
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
275630652016The Polyadenosine RNA-binding Protein, Zinc Finger Cys3His Protein 14 (ZC3H14), Regulates the Pre-mRNA Processing of a Key ATP Synthase Subunit mRNA.13
275630652016The Polyadenosine RNA-binding Protein, Zinc Finger Cys3His Protein 14 (ZC3H14), Regulates the Pre-mRNA Processing of a Key ATP Synthase Subunit mRNA.13
198898362010Novel role of ATPase subunit C targeting peptides beyond mitochondrial protein import.18
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
198898362010Novel role of ATPase subunit C targeting peptides beyond mitochondrial protein import.18
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20

Citation

Dessen P

ATP5MC1 (ATP synthase membrane subunit c locus 1)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/80357/atp5mc1-(atp-synthase-membrane-subunit-c-locus-1)