ATP5F1D (ATP synthase F1 subunit delta)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 513
Gene name ATP synthase F1 subunit delta
Gene symbol ATP5F1D
Synonyms (NCBI Gene)
ATP5DMC5DN5
Chromosome 19
Chromosome location 19p13.3
Summary This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two lin
SNPs SNP information provided by dbSNP.
2
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs867410737 C>T Pathogenic Missense variant, coding sequence variant
rs1555745989 T>G Pathogenic Coding sequence variant, missense variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (33)
GO ID Ontology Definition Evidence Reference
GO:0005198 Function Structural molecule activity IDA 29499186
GO:0005515 Function Protein binding IPI 28514442, 32296183, 32814053, 33961781
GO:0005524 Function ATP binding NAS 12539966
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IC 12110673
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603150 837 ENSG00000099624
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P30049
Protein name ATP synthase F(1) complex subunit delta, mitochondrial (ATP synthase F1 subunit delta) (F-ATPase delta subunit)
Protein function Subunit delta, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the
PDB 8H9F , 8H9J , 8H9M , 8H9Q , 8H9S , 8H9T , 8H9U , 8H9V , 8KHF , 8KI3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02823 ATP-synt_DE_N 38 → 119 ATP synthase, Delta/Epsilon chain, beta-sandwich domain Domain
Sequence 
MLPAALLRRPGLGRLVRHARAYAEAAAAPAAASGPNQMSFTFASPTQVFFNGANVRQVDV
PTLTGAFGILAAHVPTLQVLRPGLVVVHAEDGTTSKYFVSSGSIAVNADSSVQLLAEEAV
TLDMLDLGAAKANLEKAQAELVGTADEATRAEIQIRIEANEALVKALE
Sequence length 168
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Oxidative phosphorylation
Metabolic pathways
Thermogenesis
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy 		  Formation of ATP by chemiosmotic coupling
Cristae formation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
22
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Decreased activity of mitochondrial ATP synthase complex Pathogenic rs867410737 RCV000541368
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 5 Pathogenic rs867410737, rs1555745989 RCV000680226
RCV000680227
Mitochondrial disease Pathogenic rs1555745989 RCV000627809
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ATP5F1D-related disorder Conflicting classifications of pathogenicity; Likely benign; Benign; Uncertain significance rs531544101, rs779769527, rs12608755, rs372801460, rs569204304, rs1359183250, rs758810002, rs781600788, rs376321377, rs967974258, rs1018726056, rs2512987783, rs2512990982 RCV003951352
RCV003896084
RCV003973361
RCV003946301
RCV003906549
RCV003898486
RCV003399871
RCV003921367
RCV003921386
RCV003894069
RCV003904428
RCV003913812
RCV003934767
Malignant tumor of esophagus Uncertain significance rs200485963 RCV005930018
Ovarian serous cystadenocarcinoma Uncertain significance rs200485963 RCV005930019
Sarcoma Uncertain significance rs760924231 RCV005934829
Show/Hide Text Mining Associations (11)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 24558171
Brain Diseases Associate 29478781
Carcinoma Hepatocellular Inhibit 27899032
COVID 19 Associate 38259479
Heart Failure Associate 29478781
Liver Neoplasms Associate 27899032
Mitochondrial Diseases Associate 29478781
Neoplasms Associate 35867754
Night blindness congenital stationary Associate 27899032
Pre Eclampsia Associate 38259479