ATP5F1C (ATP synthase F1 subunit gamma)

2018-11-01  

Identity

HGNC
ATP5F1C
LOCATION
10p14
LOCUSID
509
ALIAS
ATP5C,ATP5C1,ATP5CL1

Other Information

Locus ID:

NCBI: 509
MIM: 108729
HGNC: 833
Ensembl: ENSG00000165629

Variants:

dbSNP: 509
ClinVar: 509
TCGA: ENSG00000165629
COSMIC: ATP5F1C

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165629ENST00000335698P36542
ENSG00000165629ENST00000356708P36542

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
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
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
198345352009Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.27
176867862007Tissue-specific splicing regulator Fox-1 induces exon skipping by interfering E complex formation on the downstream intron of human F1gamma gene.20
190645712008Polymorphisms in mitochondrial genes and prostate cancer risk.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
233956052013Chemomechanical coupling mechanism of F(1)-ATPase: catalysis and torque generation.16
117447052002Muscle-specific exonic splicing silencer for exon exclusion in human ATP synthase gamma-subunit pre-mRNA.12
294991862018Role of the mitochondrial ATP synthase central stalk subunits γ and δ in the activity and assembly of the mammalian enzyme.3

Citation

Dessen P

ATP5F1C (ATP synthase F1 subunit gamma)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/80290/atp5f1c-(atp-synthase-f1-subunit-gamma)