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 |