UniProtKB - P30049 (ATPD_HUMAN)
ATP synthase subunit delta, mitochondrial
ATP5F1D
Functioni
Mitochondrial membrane ATP synthase (F1F0 ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain (PubMed:29478781).
F-type ATPases consist of two structural domains, F1 - containing the extramembraneous catalytic core, and F0 - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP turnover in the catalytic domain of F1 is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F1 domain and of the central stalk which is part of the complex rotary element. Rotation of the central stalk against the surrounding alpha3beta3 subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits (PubMed:1531933).
1 Publication1 PublicationGO - Molecular functioni
- proton-transporting ATP synthase activity, rotational mechanism Source: InterPro
GO - Biological processi
- aerobic respiration Source: UniProtKB
- ATP synthesis coupled proton transport Source: GO_Central
- mitochondrial ATP synthesis coupled proton transport Source: UniProtKB
- mitochondrial proton-transporting ATP synthase complex assembly Source: UniProtKB
- response to copper ion Source: UniProtKB
Keywordsi
Biological process | ATP synthesis, Hydrogen ion transport, Ion transport, Transport |
Enzyme and pathway databases
PathwayCommonsi | P30049 |
Reactomei | R-HSA-163210, Formation of ATP by chemiosmotic coupling R-HSA-8949613, Cristae formation |
SignaLinki | P30049 |
SIGNORi | P30049 |
Protein family/group databases
TCDBi | 3.A.2.1.15, the h(+)- or na(+)-translocating f-type, v-type and a-type atpase (f-atpase) superfamily |
Names & Taxonomyi
Protein namesi | Recommended name: ATP synthase subunit delta, mitochondrialCuratedAlternative name(s): ATP synthase F1 subunit deltaImported F-ATPase delta subunit |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:837, ATP5F1D |
MIMi | 603150, gene |
neXtProti | NX_P30049 |
VEuPathDBi | HostDB:ENSG00000099624 |
Subcellular locationi
Mitochondrion
Mitochondrion
- mitochondrial inner membrane Source: UniProtKB
- mitochondrial matrix Source: Reactome
- mitochondrial proton-transporting ATP synthase complex Source: UniProtKB
- mitochondrial proton-transporting ATP synthase complex, catalytic sector F(1) Source: GO_Central
- mitochondrion Source: UniProtKB
Keywords - Cellular componenti
CF(1), Membrane, Mitochondrion, Mitochondrion inner membranePathology & Biotechi
Involvement in diseasei
Mitochondrial complex V deficiency, nuclear type 5 (MC5DN5)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081452 | 82 | P → L in MC5DN5; no effect on protein abundance; decreased mitochondrial proton-transporting ATP synthase complex assembly; decreased aerobic respiration in patient cells homozygous for the mutation; partial loss of function confirmed by complementation assays. 1 PublicationCorresponds to variant dbSNP:rs867410737EnsemblClinVar. | 1 | |
Natural variantiVAR_081453 | 106 | V → G in MC5DN5; no effect on protein abundance; decreased mitochondrial proton-transporting ATP synthase complex assembly; decreased aerobic respiration in patient cells homozygous for the mutation; partial loss of function confirmed by complementation assays. 1 PublicationCorresponds to variant dbSNP:rs1555745989EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Primary mitochondrial diseaseOrganism-specific databases
DisGeNETi | 513 |
MalaCardsi | ATP5F1D |
MIMi | 618120, phenotype |
OpenTargetsi | ENSG00000099624 |
Orphaneti | 254913, Isolated ATP synthase deficiency |
PharmGKBi | PA25127 |
Miscellaneous databases
Pharosi | P30049, Tbio |
Chemistry databases
DrugBanki | DB01189, Desflurane DB00753, Isoflurane DB13749, Magnesium gluconate |
Genetic variation databases
BioMutai | ATP5D |
DMDMi | 584812 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 22 | Mitochondrion1 PublicationAdd BLAST | 22 | |
ChainiPRO_0000002661 | 23 – 168 | ATP synthase subunit delta, mitochondrialAdd BLAST | 146 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 136 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 136 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 165 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 165 | N6-succinyllysine; alternateBy similarity | 1 |
Keywords - PTMi
AcetylationProteomic databases
EPDi | P30049 |
jPOSTi | P30049 |
MassIVEi | P30049 |
MaxQBi | P30049 |
PaxDbi | P30049 |
PeptideAtlasi | P30049 |
PRIDEi | P30049 |
ProteomicsDBi | 54629 |
TopDownProteomicsi | P30049 |
2D gel databases
OGPi | P30049 |
SWISS-2DPAGEi | P30049 |
UCD-2DPAGEi | P30049 |
PTM databases
GlyGeni | P30049, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | P30049 |
PhosphoSitePlusi | P30049 |
Expressioni
Gene expression databases
Bgeei | ENSG00000099624, Expressed in apex of heart and 244 other tissues |
ExpressionAtlasi | P30049, baseline and differential |
Genevisiblei | P30049, HS |
Organism-specific databases
HPAi | ENSG00000099624, Tissue enhanced (skeletal) |
Interactioni
Subunit structurei
F-type ATPases have 2 components, CF1 - the catalytic core - and CF0 - the membrane proton channel. CF1 has five subunits: alpha3, beta3, gamma1, delta1, epsilon1. CF0 seems to have nine subunits: a, b, c, d, e, f, g, F6 and 8 (or A6L).
Component of an ATP synthase complex composed of ATP5PB, ATP5MC1, ATP5F1E, ATP5PD, ATP5ME, ATP5PF, ATP5MF, MT-ATP6, MT-ATP8, ATP5F1A, ATP5F1B, ATP5F1D, ATP5F1C, ATP5PO, ATP5MG, ATP5MK and ATP5MJ (By similarity).
By similarityBinary interactionsi
P30049
Protein-protein interaction databases
BioGRIDi | 106998, 138 interactors |
ComplexPortali | CPX-6151, Mitochondrial proton-transporting ATP synthase complex |
CORUMi | P30049 |
IntActi | P30049, 64 interactors |
MINTi | P30049 |
STRINGi | 9606.ENSP00000215375 |
Miscellaneous databases
RNActi | P30049, protein |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG1758, Eukaryota |
GeneTreei | ENSGT00390000017576 |
HOGENOMi | CLU_084338_0_1_1 |
InParanoidi | P30049 |
OMAi | TLPHQTI |
OrthoDBi | 1286602at2759 |
PhylomeDBi | P30049 |
TreeFami | TF313029 |
Family and domain databases
CDDi | cd12152, F1-ATPase_delta, 1 hit |
Gene3Di | 2.60.15.10, 1 hit |
HAMAPi | MF_00530, ATP_synth_epsil_bac, 1 hit |
InterProi | View protein in InterPro IPR036794, ATP_F1_dsu/esu_C_sf IPR001469, ATP_synth_F1_dsu/esu IPR020546, ATP_synth_F1_dsu/esu_N IPR036771, ATPsynth_dsu/esu_N |
PANTHERi | PTHR13822, PTHR13822, 1 hit |
Pfami | View protein in Pfam PF02823, ATP-synt_DE_N, 1 hit |
SUPFAMi | SSF46604, SSF46604, 1 hit SSF51344, SSF51344, 1 hit |
TIGRFAMsi | TIGR01216, ATP_synt_epsi, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
10 20 30 40 50
MLPAALLRRP GLGRLVRHAR AYAEAAAAPA AASGPNQMSF TFASPTQVFF
60 70 80 90 100
NGANVRQVDV PTLTGAFGIL AAHVPTLQVL RPGLVVVHAE DGTTSKYFVS
110 120 130 140 150
SGSIAVNADS SVQLLAEEAV TLDMLDLGAA KANLEKAQAE LVGTADEATR
160
AEIQIRIEAN EALVKALE
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A087WTL3 | A0A087WTL3_HUMAN | ATP synthase F1 subunit delta | ATP5F1D | 99 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081452 | 82 | P → L in MC5DN5; no effect on protein abundance; decreased mitochondrial proton-transporting ATP synthase complex assembly; decreased aerobic respiration in patient cells homozygous for the mutation; partial loss of function confirmed by complementation assays. 1 PublicationCorresponds to variant dbSNP:rs867410737EnsemblClinVar. | 1 | |
Natural variantiVAR_081453 | 106 | V → G in MC5DN5; no effect on protein abundance; decreased mitochondrial proton-transporting ATP synthase complex assembly; decreased aerobic respiration in patient cells homozygous for the mutation; partial loss of function confirmed by complementation assays. 1 PublicationCorresponds to variant dbSNP:rs1555745989EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | S87916 mRNA Translation: AAA08055.1 S87918 mRNA Translation: ABB76284.1 X63422 mRNA Translation: CAA45016.1 X63423 mRNA Translation: CAA45017.1 CR542218 mRNA Translation: CAG47014.1 AC004221 Genomic DNA Translation: AAC04304.1 CH471139 Genomic DNA Translation: EAW69532.1 CH471139 Genomic DNA Translation: EAW69533.1 CH471139 Genomic DNA Translation: EAW69534.1 BC002389 mRNA Translation: AAH02389.1 BC004426 mRNA Translation: AAH04426.1 BC018079 mRNA Translation: AAH18079.1 |
CCDSi | CCDS12058.1 |
PIRi | S22348 |
RefSeqi | NP_001001975.1, NM_001001975.1 NP_001678.1, NM_001687.4 |
Genome annotation databases
Ensembli | ENST00000215375.7; ENSP00000215375.1; ENSG00000099624.8 ENST00000395633.5; ENSP00000378995.1; ENSG00000099624.8 ENST00000591660.5; ENSP00000464863.1; ENSG00000099624.8 |
GeneIDi | 513 |
KEGGi | hsa:513 |
MANE-Selecti | ENST00000215375.7; ENSP00000215375.1; NM_001687.5; NP_001678.1 |
UCSCi | uc002lrn.4, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | S87916 mRNA Translation: AAA08055.1 S87918 mRNA Translation: ABB76284.1 X63422 mRNA Translation: CAA45016.1 X63423 mRNA Translation: CAA45017.1 CR542218 mRNA Translation: CAG47014.1 AC004221 Genomic DNA Translation: AAC04304.1 CH471139 Genomic DNA Translation: EAW69532.1 CH471139 Genomic DNA Translation: EAW69533.1 CH471139 Genomic DNA Translation: EAW69534.1 BC002389 mRNA Translation: AAH02389.1 BC004426 mRNA Translation: AAH04426.1 BC018079 mRNA Translation: AAH18079.1 |
CCDSi | CCDS12058.1 |
PIRi | S22348 |
RefSeqi | NP_001001975.1, NM_001001975.1 NP_001678.1, NM_001687.4 |
3D structure databases
AlphaFoldDBi | P30049 |
SMRi | P30049 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 106998, 138 interactors |
ComplexPortali | CPX-6151, Mitochondrial proton-transporting ATP synthase complex |
CORUMi | P30049 |
IntActi | P30049, 64 interactors |
MINTi | P30049 |
STRINGi | 9606.ENSP00000215375 |
Chemistry databases
DrugBanki | DB01189, Desflurane DB00753, Isoflurane DB13749, Magnesium gluconate |
Protein family/group databases
TCDBi | 3.A.2.1.15, the h(+)- or na(+)-translocating f-type, v-type and a-type atpase (f-atpase) superfamily |
PTM databases
GlyGeni | P30049, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | P30049 |
PhosphoSitePlusi | P30049 |
Genetic variation databases
BioMutai | ATP5D |
DMDMi | 584812 |
2D gel databases
OGPi | P30049 |
SWISS-2DPAGEi | P30049 |
UCD-2DPAGEi | P30049 |
Proteomic databases
EPDi | P30049 |
jPOSTi | P30049 |
MassIVEi | P30049 |
MaxQBi | P30049 |
PaxDbi | P30049 |
PeptideAtlasi | P30049 |
PRIDEi | P30049 |
ProteomicsDBi | 54629 |
TopDownProteomicsi | P30049 |
Protocols and materials databases
Antibodypediai | 1258, 316 antibodies from 29 providers |
DNASUi | 513 |
Genome annotation databases
Ensembli | ENST00000215375.7; ENSP00000215375.1; ENSG00000099624.8 ENST00000395633.5; ENSP00000378995.1; ENSG00000099624.8 ENST00000591660.5; ENSP00000464863.1; ENSG00000099624.8 |
GeneIDi | 513 |
KEGGi | hsa:513 |
MANE-Selecti | ENST00000215375.7; ENSP00000215375.1; NM_001687.5; NP_001678.1 |
UCSCi | uc002lrn.4, human |
Organism-specific databases
CTDi | 513 |
DisGeNETi | 513 |
GeneCardsi | ATP5F1D |
HGNCi | HGNC:837, ATP5F1D |
HPAi | ENSG00000099624, Tissue enhanced (skeletal) |
MalaCardsi | ATP5F1D |
MIMi | 603150, gene 618120, phenotype |
neXtProti | NX_P30049 |
OpenTargetsi | ENSG00000099624 |
Orphaneti | 254913, Isolated ATP synthase deficiency |
PharmGKBi | PA25127 |
VEuPathDBi | HostDB:ENSG00000099624 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1758, Eukaryota |
GeneTreei | ENSGT00390000017576 |
HOGENOMi | CLU_084338_0_1_1 |
InParanoidi | P30049 |
OMAi | TLPHQTI |
OrthoDBi | 1286602at2759 |
PhylomeDBi | P30049 |
TreeFami | TF313029 |
Enzyme and pathway databases
PathwayCommonsi | P30049 |
Reactomei | R-HSA-163210, Formation of ATP by chemiosmotic coupling R-HSA-8949613, Cristae formation |
SignaLinki | P30049 |
SIGNORi | P30049 |
Miscellaneous databases
BioGRID-ORCSi | 513, 630 hits in 1075 CRISPR screens |
ChiTaRSi | ATP5D, human |
GeneWikii | ATP5D |
GenomeRNAii | 513 |
Pharosi | P30049, Tbio |
PROi | PR:P30049 |
RNActi | P30049, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000099624, Expressed in apex of heart and 244 other tissues |
ExpressionAtlasi | P30049, baseline and differential |
Genevisiblei | P30049, HS |
Family and domain databases
CDDi | cd12152, F1-ATPase_delta, 1 hit |
Gene3Di | 2.60.15.10, 1 hit |
HAMAPi | MF_00530, ATP_synth_epsil_bac, 1 hit |
InterProi | View protein in InterPro IPR036794, ATP_F1_dsu/esu_C_sf IPR001469, ATP_synth_F1_dsu/esu IPR020546, ATP_synth_F1_dsu/esu_N IPR036771, ATPsynth_dsu/esu_N |
PANTHERi | PTHR13822, PTHR13822, 1 hit |
Pfami | View protein in Pfam PF02823, ATP-synt_DE_N, 1 hit |
SUPFAMi | SSF46604, SSF46604, 1 hit SSF51344, SSF51344, 1 hit |
TIGRFAMsi | TIGR01216, ATP_synt_epsi, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | ATPD_HUMAN | |
Accessioni | P30049Primary (citable) accession number: P30049 Secondary accession number(s): D6W5Y3, Q6FG90 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 1, 1993 |
Last sequence update: | October 1, 1994 | |
Last modified: | May 25, 2022 | |
This is version 203 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families