ATP5F1A (ATP synthase F1 subunit alpha)

2018-02-01  

Identity

HGNC
ATP5F1A
LOCATION
18q21.1
LOCUSID
498
ALIAS
ATP5A,ATP5A1,ATP5AL2,ATPM,COXPD22,HEL-S-123m,MC5DN4,MOM2,OMR,ORM,hATP1

Other Information

Locus ID:

NCBI: 498
MIM: 164360
HGNC: 823
Ensembl: ENSG00000152234

Variants:

dbSNP: 498
ClinVar: 498
TCGA: ENSG00000152234
COSMIC: ATP5F1A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000152234ENST00000282050P25705
ENSG00000152234ENST00000282050V9HW26
ENSG00000152234ENST00000398752P25705
ENSG00000152234ENST00000398752V9HW26
ENSG00000152234ENST00000585650K7EQU6
ENSG00000152234ENST00000586592A0A0A0MTS3
ENSG00000152234ENST00000589252K7ENJ4
ENSG00000152234ENST00000589869K7EK77
ENSG00000152234ENST00000590156K7EM08
ENSG00000152234ENST00000590324K7EJP1
ENSG00000152234ENST00000590406K7ERX7
ENSG00000152234ENST00000590665P25705
ENSG00000152234ENST00000591981K7EKV9
ENSG00000152234ENST00000592364K7ESA0
ENSG00000152234ENST00000592989K7EQH4
ENSG00000152234ENST00000593152P25705

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
218171602011Redox regulation of mitochondrial ATP synthase: implications for cardiac resynchronization therapy.68
235960692013Targeted exome sequencing of suspected mitochondrial disorders.49
191102652009Proteomic analysis of dorsolateral prefrontal cortex indicates the involvement of cytoskeleton, oligodendrocyte, energy metabolism and new potential markers in schizophrenia.43
194059532009Proteome analysis of schizophrenia patients Wernicke's area reveals an energy metabolism dysregulation.38
126146712003Association of ATP synthase alpha-chain with neurofibrillary degeneration in Alzheimer's disease.26
259994242015From ATP to PTP and Back: A Dual Function for the Mitochondrial ATP Synthase.25
235993902013A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy.24
203810702010Sex-specific proteome differences in the anterior cingulate cortex of schizophrenia.22
208197782010MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer.21
190645712008Polymorphisms in mitochondrial genes and prostate cancer risk.20

Citation

Dessen P

ATP5F1A (ATP synthase F1 subunit alpha)

Atlas Genet Cytogenet Oncol Haematol. 2018-02-01

Online version: http://atlasgeneticsoncology.org/gene/57314/atp5f1a