Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
6.2.1.4
Ligases;
Forming carbon-sulfur bonds;
Acid-thiol ligases;
succinate—CoA ligase (GDP-forming)
6.2.1.5
Ligases;
Forming carbon-sulfur bonds;
Acid-thiol ligases;
succinate—CoA ligase (ADP-forming)
PDB | Resolution (Å) | PDB name |
---|---|---|
6G4Q | 2.59 | Structure of human ADP-forming succinyl-CoA ligase complex SUCLG1-SUCLA2 |
6WCV | 1.52 | Tartryl-CoA bound to human GTP-specific succinyl-CoA synthetase |
7MSR | 1.58 | Human E105Qa GTP-specific succinyl-CoA synthetase complexed with succinyl-phosphate, magnesium ion and desulfo-coenzyme A |
7MSS | 1.75 | Human E105Qa GTP-specific succinyl-CoA synthetase complexed with succinate, magnesium ion and CoA |
7MST | 1.61 | Phosphorylated human E105Qa GTP-specific succinyl-CoA synthetase complexed with coenzyme A |
GO ontology | GO term | GO description |
---|---|---|
Biological Process | GO:1901289 | succinyl-CoA catabolic process |
Biological Process | GO:0006099 | tricarboxylic acid cycle |
Molecular Function | GO:0003723 | RNA binding |
Molecular Function | GO:0000166 | nucleotide binding |
Molecular Function | GO:0004775 | succinate-CoA ligase (ADP-forming) activity |
Molecular Function | GO:0004776 | succinate-CoA ligase (GDP-forming) activity |
Cellular Component | GO:0005759 | mitochondrial matrix |
Cellular Component | GO:0005739 | mitochondrion |
Cellular Component | GO:0009361 | succinate-CoA ligase complex (ADP-forming) |
Cellular Component | GO:0045244 | succinate-CoA ligase complex (GDP-forming) |
InterPro | InterPro name |
---|---|
IPR003781 | CoA-binding |
IPR005810 | Succinyl-CoA ligase, alpha subunit |
IPR005811 | ATP-citrate lyase/succinyl-CoA ligase |
IPR016102 | Succinyl-CoA synthetase-like |
IPR017440 | ATP-citrate lyase/succinyl-CoA ligase, active site |
IPR033847 | ATP-citrate lyase/succinyl-CoA ligase, conserved site |
IPR036291 | NAD(P)-binding domain superfamily |
Pfam | Pfam name |
---|---|
PF00549 | CoA-ligase |
PF02629 | CoA binding domain |
Reactome | Reactome Name | Node type | Reactome Root | Reactome Root Name |
---|---|---|---|---|
R-HSA-71403 | Citric acid cycle (TCA cycle) | Leaf | R-HSA-1430728 | Metabolism |
Location | ECO term | Pubmed |
---|---|---|
Mitochondrion | ECO:0000255 |
HPO ID | HPO name |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000047 | Hypospadias |
HP:0000202 | Orofacial cleft |
HP:0000252 | Microcephaly |
HP:0000365 | Hearing impairment |
HP:0000407 | Sensorineural hearing impairment |
HP:0000486 | Strabismus |
HP:0000508 | Ptosis |
HP:0000718 | Aggressive behavior |
HP:0000736 | Short attention span |
HP:0000975 | Hyperhidrosis |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0001252 | Hypotonia |
HP:0001263 | Global developmental delay |
HP:0001266 | Choreoathetosis |
HP:0001270 | Motor delay |
HP:0001276 | Hypertonia |
HP:0001284 | Areflexia |
HP:0001298 | Encephalopathy |
HP:0001332 | Dystonia |
HP:0001336 | Myoclonus |
HP:0001371 | Flexion contracture |
HP:0001397 | Hepatic steatosis |
HP:0001508 | Failure to thrive |
HP:0001510 | Growth delay |
HP:0001511 | Intrauterine growth retardation |
HP:0001522 | Death in infancy |
HP:0001639 | Hypertrophic cardiomyopathy |
HP:0001643 | Patent ductus arteriosus |
HP:0001655 | Patent foramen ovale |
HP:0001680 | Coarctation of aorta |
HP:0001943 | Hypoglycemia |
HP:0002013 | Vomiting |
HP:0002020 | Gastroesophageal reflux |
HP:0002045 | Hypothermia |
HP:0002059 | Cerebral atrophy |
HP:0002093 | Respiratory insufficiency |
HP:0002098 | Respiratory distress |
HP:0002104 | Apnea |
HP:0002151 | Increased serum lactate |
HP:0002154 | Hyperglycinemia |
HP:0002205 | Recurrent respiratory infections |
HP:0002240 | Hepatomegaly |
HP:0002317 | Unsteady gait |
HP:0002352 | Leukoencephalopathy |
HP:0002360 | Sleep disturbance |
HP:0002421 | Poor head control |
HP:0002487 | Hyperkinetic movements |
HP:0002490 | Increased CSF lactate |
HP:0002643 | Neonatal respiratory distress |
HP:0002878 | Respiratory failure |
HP:0002910 | Elevated hepatic transaminase |
HP:0002912 | Methylmalonic acidemia |
HP:0003097 | Short femur |
HP:0003128 | Lactic acidosis |
HP:0003200 | Ragged-red muscle fibers |
HP:0003201 | Rhabdomyolysis |
HP:0003202 | Skeletal muscle atrophy |
HP:0003219 | Ethylmalonic aciduria |
HP:0003535 | 3-Methylglutaconic aciduria |
HP:0003557 | Increased variability in muscle fiber diameter |
HP:0003593 | Infantile onset |
HP:0003623 | Neonatal onset |
HP:0003648 | Lacticaciduria |
HP:0003811 | Neonatal death |
HP:0003819 | Death in childhood |
HP:0004742 | Abnormal renal collecting system morphology |
HP:0005792 | Short humerus |
HP:0007183 | Focal T2 hyperintense basal ganglia lesion |
HP:0008347 | Decreased activity of mitochondrial complex IV |
HP:0008935 | Generalized neonatal hypotonia |
HP:0008936 | Axial hypotonia |
HP:0008947 | Infantile muscular hypotonia |
HP:0009141 | Depletion of mitochondrial DNA in muscle tissue |
HP:0010442 | Polydactyly |
HP:0010864 | Intellectual disability, severe |
HP:0011611 | Interrupted aortic arch |
HP:0011923 | Decreased activity of mitochondrial complex I |
HP:0011924 | Decreased activity of mitochondrial complex III |
HP:0011968 | Feeding difficulties |
HP:0012087 | Abnormal mitochondrial shape |
HP:0012120 | Methylmalonic aciduria |
HP:0012240 | Increased intramyocellular lipid droplets |
HP:0012379 | Abnormal circulating enzyme concentration or activity |
HP:0012707 | Elevated brain lactate level by MRS |
HP:0012751 | Abnormal basal ganglia MRI signal intensity |
HP:0031956 | Elevated circulating aspartate aminotransferase concentration |
HP:0031964 | Elevated circulating alanine aminotransferase concentration |
HP:0032653 | Elevated lactate:pyruvate ratio |
HP:0032988 | Persistent head lag |
HP:0500181 | Hypertaurinemia |
Disease name | MONDO ID | ICD10 | ICD10 chapter | OMIM | Orphanet |
---|---|---|---|---|---|
mitochondrial dna depletion syndrome 9 | MONDO:0009504 | E71 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:245400 | Orphanet:17 |