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MGP003696

UniProt Annotations

Entry Information
Gene Namesuccinate-CoA ligase, ADP-forming, beta subunit
Protein EntrySUCB1_HUMAN
UniProt IDQ9P2R7
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9P2R7-1; Sequence=Displayed; Name=2; IsoId=Q9P2R7-2; Sequence=VSP_006292; Note=No experimental confirmation available.;
Catalytic ActivityATP + succinate + CoA = ADP + phosphate + succinyl-CoA.
DiseaseMitochondrial DNA depletion syndrome 5 (MTDPS5) [MIM:612073]: A disorder due to mitochondrial dysfunction. It is characterized by infantile onset of hypotonia, neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, variable renal tubular dysfunction, and mild methylmalonic aciduria in some patients. {ECO:0000269|PubMed:15877282, ECO:0000269|PubMed:17287286, ECO:0000269|PubMed:17301081, ECO:0000269|PubMed:23759946}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalyzes the ATP-dependent ligation of succinate and CoA to form succinyl-CoA. {ECO:0000250}.
PathwayCarbohydrate metabolism; tricarboxylic acid cycle; succinate from succinyl-CoA (ligase route): step 1/1.
SimilarityBelongs to the succinate/malate CoA ligase beta subunit family. {ECO:0000305}.
SimilarityContains 1 ATP-grasp domain. {ECO:0000305}.
Subcellular LocationMitochondrion.
SubunitHeterodimer of an alpha and a beta subunit. Interacts with ALAS2. {ECO:0000269|PubMed:14643893}.
Tissue SpecificityWidely expressed. Not expressed in liver and lung. {ECO:0000269|PubMed:9765291}.
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