ATP5F1D (ATP synthase F1 subunit delta)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
513
Gene name Gene Name - the full gene name approved by the HGNC.
ATP synthase F1 subunit delta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ATP5F1D
Synonyms (NCBI Gene) Gene synonyms aliases
ATP5D, MC5DN5
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MC5DN5
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(23)
GO ID Ontology Definition Evidence Reference
GO:0000275 Component Mitochondrial proton-transporting ATP synthase complex, catalytic sector F(1) IBA 21873635
GO:0000275 Component Mitochondrial proton-transporting ATP synthase complex, catalytic sector F(1) NAS 12539966
GO:0005515 Function Protein binding IPI 28514442, 32296183, 32814053
GO:0005524 Function ATP binding NAS 12539966
GO:0005739 Component Mitochondrion NAS 12887009
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603150 837 ENSG00000099624
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (5)
Causal
Disease term Disease name dbSNP ID References
Cardiomyopathy Cardiomyopathy, Dilated rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377
View all (900 more)		 29478781
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Epileptic encephalopathy Encephalopathies rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625
View all (860 more)
Mitochondrial complex deficiency MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 rs267606829, rs267606830, rs587776513, rs121918134, rs121918135, rs121918136, rs137853192, rs137853193, rs183973249, rs137853184, rs118203929, rs267606689, rs11544803, rs63751061, rs137852863
View all (210 more)		 29478781
Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
Heart failure Left-Sided Heart Failure 29478781 ClinVar
Specific learning disorder Specific learning disability 29478781 ClinVar
Mitochondrial Complex Deficiency mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 GenCC
Show/Hide Text Mining Associations (11)
Associations from Text Mining
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