ATP5PD (ATP synthase peripheral stalk subunit d)

2021-06-01  

Identity

HGNC
LOCATION
17q25.1
LOCUSID
ALIAS
APT5H,ATP5H,ATPQ

Other Information

Locus ID:

NCBI: 10476
MIM: 618121
HGNC: 845
Ensembl: ENSG00000167863

Variants:

dbSNP: 10476
ClinVar: 10476
TCGA: ENSG00000167863
COSMIC: ATP5PD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167863ENST00000301587O75947
ENSG00000167863ENST00000344546O75947
ENSG00000167863ENST00000538432F5H608

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
191102652009Proteomic analysis of dorsolateral prefrontal cortex indicates the involvement of cytoskeleton, oligodendrocyte, energy metabolism and new potential markers in schizophrenia.43
238571202014ATP5H/KCTD2 locus is associated with Alzheimer's disease risk.21
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
282422972017Systems biology approach to late-onset Alzheimer's disease genome-wide association study identifies novel candidate genes validated using brain expression data and Caenorhabditis elegans experiments.14
301244672018Mitochondrial reprogramming via ATP5H loss promotes multimodal cancer therapy resistance.5

Citation

Dessen P

ATP5PD (ATP synthase peripheral stalk subunit d)

Atlas Genet Cytogenet Oncol Haematol. 2021-06-01

Online version: http://atlasgeneticsoncology.org/gene/58340/atp5pd