ATP5F1D (ATP synthase F1 subunit delta)

2018-11-01  

Identity

HGNC
ATP5F1D
LOCATION
19p13.3
LOCUSID
513
ALIAS
ATP5D,MC5DN5

Other Information

Locus ID:

NCBI: 513
MIM: 603150
HGNC: 837
Ensembl: ENSG00000099624

Variants:

dbSNP: 513
ClinVar: 513
TCGA: ENSG00000099624
COSMIC: ATP5F1D

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000099624ENST00000215375P30049
ENSG00000099624ENST00000395633P30049
ENSG00000099624ENST00000591249A0A087WTL3
ENSG00000099624ENST00000591660P30049

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
366863782023ATP5D Is a Potential Biomarker for Male Fertility.0
366863782023ATP5D Is a Potential Biomarker for Male Fertility.0
358677542022RNA m(1)A methylation regulates glycolysis of cancer cells through modulating ATP5D.0
358677542022RNA m(1)A methylation regulates glycolysis of cancer cells through modulating ATP5D.0
294787812018Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.39
294787812018Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.39
278990322017Proteomic profiling of the spinal cord in ALS: decreased ATP5D levels suggest synaptic dysfunction in ALS pathogenesis.11
278990322017Proteomic profiling of the spinal cord in ALS: decreased ATP5D levels suggest synaptic dysfunction in ALS pathogenesis.11

Citation

Dessen P

ATP5F1D (ATP synthase F1 subunit delta)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/80513/atp5f1d-(atp-synthase-f1-subunit-delta)