MitoProteome Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins

MT001357

UniProt Annotations

Entry Information

Gene Name	CoA synthase
Protein Entry	COASY_HUMAN
UniProt ID	Q13057
Species	Human

Comments

Comment type	Description
Alternative Products	Event=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 Properties	Kinetic 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 Activity	ATP + 3'-dephospho-CoA = ADP + CoA.
Catalytic Activity	ATP + pantetheine 4'-phosphate = diphosphate + 3'-dephospho-CoA.
Disease	Neurodegeneration 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.
Function	Bifunctional 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}.
Interaction	Q6P2E9:EDC4; NbExp=3; IntAct=EBI-745967, EBI-1006038;
Pathway	Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 4/5.
Pathway	Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 5/5.
Sequence Caution	Sequence=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};
Similarity	Contains 1 DPCK (dephospho-CoA kinase) domain. {ECO:0000305}.
Similarity	In the central section; belongs to the eukaryotic CoaD family. {ECO:0000305}.
Subcellular Location	Cytoplasm {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.
Subunit	Monomer. {ECO:0000269\|PubMed:11994049}.
Tissue Specificity	Expressed 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}.