ATP5F1D (ATP synthase F1 subunit delta)

2018-11-01 Affiliation

HGNC

ATP5F1D

LOCATION

19p13.3

LOCUSID

513

ALIAS

ATP5D,MC5DN5

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

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

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

Pathway	Source	External ID
Oxidative phosphorylation	KEGG	ko00190
Alzheimer's disease	KEGG	ko05010
Huntington's disease	KEGG	ko05016
Oxidative phosphorylation	KEGG	hsa00190
Alzheimer's disease	KEGG	hsa05010
Parkinson's disease	KEGG	hsa05012
Huntington's disease	KEGG	hsa05016
Metabolic pathways	KEGG	hsa01100
F-type ATPase, eukaryotes	KEGG	hsa_M00158
F-type ATPase, eukaryotes	KEGG	M00158
Metabolism	REACTOME	R-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transport	REACTOME	R-HSA-1428517
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.	REACTOME	R-HSA-163200
Formation of ATP by chemiosmotic coupling	REACTOME	R-HSA-163210

Not detected

Low

Medium

High

Pubmed ID	Year	Title	Citations
29478781	2018	Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.	14
27899032	2017	Proteomic profiling of the spinal cord in ALS: decreased ATP5D levels suggest synaptic dysfunction in ALS pathogenesis.	4

Dessen P

ATP5F1D (ATP synthase F1 subunit delta)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01