ATP5PF (ATP synthase peripheral stalk subunit F6)

2018-02-01  

Identity

HGNC
LOCATION
21q21.3
LOCUSID
ALIAS
ATP5,ATP5A,ATP5J,ATPM,CF6,F6

Other Information

Locus ID:

NCBI: 522
MIM: 603152
HGNC: 847
Ensembl: ENSG00000154723

Variants:

dbSNP: 522
ClinVar: 522
TCGA: ENSG00000154723
COSMIC: ATP5PF

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000154723ENST00000284971P18859
ENSG00000154723ENST00000284971Q6IB54
ENSG00000154723ENST00000400087P18859
ENSG00000154723ENST00000400087Q6IB54
ENSG00000154723ENST00000400090P18859
ENSG00000154723ENST00000400090Q6IB54
ENSG00000154723ENST00000400093P18859
ENSG00000154723ENST00000400093Q6IB54
ENSG00000154723ENST00000400094P18859
ENSG00000154723ENST00000400094Q6IB54
ENSG00000154723ENST00000400099A8MUH2
ENSG00000154723ENST00000457143P18859

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
190645712008Polymorphisms in mitochondrial genes and prostate cancer risk.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
165324702006Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations.15
157091562005Transmission and prenatal diagnosis of the T9176C mitochondrial DNA mutation.12
209537932011Heterogeneous patterns of tissue injury in NARP syndrome.10
162305212005Intracellular signaling for vasoconstrictor coupling factor 6: novel function of beta-subunit of ATP synthase as receptor.9
146331542003Plasma concentration of coupling factor 6 and cardiovascular events in patients with end-stage renal disease.5
182432112008Coupling factor 6 downregulates platelet endothelial cell adhesion molecule-1 via c-Src activation and acts as a proatherogenic molecule.3
191061122009Coupling factor 6 enhances Src-mediated responsiveness to angiotensin II in resistance arterioles and cells.3
220385182012Coupling factor 6-induced activation of ecto-F1F(o) complex induces insulin resistance, mild glucose intolerance and elevated blood pressure in mice.3

Citation

Dessen P

ATP5PF (ATP synthase peripheral stalk subunit F6)

Atlas Genet Cytogenet Oncol Haematol. 2018-02-01

Online version: http://atlasgeneticsoncology.org/gene/57348/atp5pf-(atp-synthase-peripheral-stalk-subunit-f6)