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MGP005994

UniProt Annotations

Entry Information
Gene NameCoA synthase
Protein EntryCOASY_HUMAN
UniProt IDQ13057
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; Synonyms=CoASy alpha; IsoId=Q13057-1; Sequence=Displayed; Name=2; Synonyms=CoASy beta; IsoId=Q13057-2; Sequence=VSP_036404;
Biophysicochemical PropertiesKinetic parameters: KM=7.6 mM for 4'-phoshopantetheine; KM=145 mM for ATP (in the PPAT reaction); KM=16.7 mM for dephospho-CoA; KM=34.4 mM for ATP (in the DPCK reaction);
Catalytic ActivityATP + 3'-dephospho-CoA = ADP + CoA.
Catalytic ActivityATP + pantetheine 4'-phosphate = diphosphate + 3'-dephospho-CoA.
DiseaseNeurodegeneration with brain iron accumulation 6 (NBIA6) [MIM:615643]: A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by progressive motor and cognitive dysfunction beginning in childhood or young adulthood. Patients show extrapyramidal motor signs, such as spasticity, dystonia, and parkinsonism. {ECO:0000269|PubMed:24360804}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionBifunctional enzyme that catalyzes the fourth and fifth sequential steps of CoA biosynthetic pathway. The fourth reaction is catalyzed by the phosphopantetheine adenylyltransferase, coded by the coaD domain; the fifth reaction is catalyzed by the dephospho-CoA kinase, coded by the coaE domain. May act as a point of CoA biosynthesis regulation. {ECO:0000269|PubMed:11923312}.
InteractionQ6P2E9:EDC4; NbExp=3; IntAct=EBI-745967, EBI-1006038;
PathwayCofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 4/5.
PathwayCofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 5/5.
Sequence CautionSequence=AAA69699.1; Type=Frameshift; Positions=535; Evidence={ECO:0000305}; Sequence=AAF87955.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH06354.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH20985.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AK075415; Type=Frameshift; Positions=315; Evidence={ECO:0000305};
SimilarityContains 1 DPCK (dephospho-CoA kinase) domain. {ECO:0000305}.
SimilarityIn the central section; belongs to the eukaryotic CoaD family. {ECO:0000305}.
Subcellular LocationCytoplasm {ECO:0000250}. Mitochondrion matrix {ECO:0000269|PubMed:24360804}. Note=The protein is mainly present in the mitochondrial matrix, probably anchored to the inner mitochondrial membrane, but is also present in cell lysate.
SubunitMonomer. {ECO:0000269|PubMed:11994049}.
Tissue SpecificityExpressed in all tissues examined including brain, heart, skeletal muscle, colon, thymus, spleen, kidney, liver, small intestine, placenta, lung and peripheral blood leukocyte. Lowest expression in peripheral blood leukocytes and highest in kidney and liver. Isoform 2 is expressed mainly in the brain. {ECO:0000269|PubMed:11923312}.
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