COASY
entrez
80347
canonical
uniprot
Q13057
canonical
ensembl
ENSG00000068120
resolver
ensp
ENSP00000377406
resolver
ensp
ENSP00000393564
resolver
ensp
ENSP00000464814
resolver
genesymbol
COASY
resolver
hgnc
HGNC:29932
resolver
uniprot
B2RA78
resolver
uniprot
B4DLU0
resolver
uniprot
Q6GS23
resolver
uniprot
Q8NBM7
resolver
uniprot
Q8NEW1
resolver
uniprot
Q8WXD4
resolver
uniprot
Q9NRM3
resolver
uniprot_entry
COASY_HUMAN
resolver
uniprot_sec
B2RA78
resolver
uniprot_sec
B4DLU0
resolver
uniprot_sec
Q6GS23
resolver
uniprot_sec
Q8NBM7
resolver
uniprot_sec
Q8NEW1
resolver
uniprot_sec
Q8WXD4
resolver
uniprot_sec
Q9NRM3
resolver
amino_acid_sequence
MAVFRSGLLVLTTPLASLAPRLASILTSAARLVNHTLYVHLQPGMSLEGPAQPQSSPVQATFEVLDFITHLYAGADVHRHLDVRILLTNIRTKSTFLPPLPTSVQNLAHPPEVVLTDFQTLDGSQYNPVKQQLVRYATSCYSCCPRLASVLLYSDYGIGEVPVEPLDVPLPSTIRPASPVAGSPKQPVRGYYRGAVGGTFDRLHNAHKVLLSVACILAQEQLVVGVADKDLLKSKLLPELLQPYTERVEHLSEFLVDIKPSLTFDVIPLLDPYGPAGSDPSLEFLVVSEETYRGGMAINRFRLENDLEELALYQIQLLKDLRHTENEEDKVSSSSFRQRMLGNLLRPPYERPELPTCLYVIGLTGISGSGKSSIAQRLKGLGAFVIDSDHLGHRAYAPGGPAYQPVVEAFGTDILHKDGIINRKVLGSRVFGNKKQLKILTDIMWPIIAKLAREEMDRAVAEGKRVCVIDAAVLLEAGWQNLVHEVWTAVIPETEAVRRIVERDGLSEAAAQSRLQSQMSGQQLVEQSHVVLSTLWEPHITQRQVEKAWALLQKRIPKTHQALD
uniprot
proteins
disease_involvement
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, ECO:0000269|PubMed:28489334}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Pontocerebellar hypoplasia 12 (PCH12) [MIM:618266]: A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH12 is an autosomal recessive form characterized by onset in utero and death in infancy. Brain imaging shows microcephaly, cerebellar hypoplasia, micrognathia, and multiple contractures. {ECO:0000269|PubMed:30089828}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.1.24
uniprot
proteins
ec_number
2.7.7.3
uniprot
proteins
function
FUNCTION: Bifunctional enzyme that catalyzes the fourth step of the coenzyme A biosynthetic pathway, the adenylation of 4'-phosphopantetheine, and the fifth step, the phosphorylation of dephospho-CoA to CoA. {ECO:0000269|PubMed:11923312, ECO:0000269|PubMed:24360804}.
uniprot
proteins
mass_dalton
62329
uniprot
proteins
pathway_participation
PATHWAY: Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 4/5. {ECO:0000269|PubMed:11923312}.; PATHWAY: Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 5/5. {ECO:0000269|PubMed:11923312, ECO:0000269|PubMed:24360804}.
uniprot
proteins
protein_family
Eukaryotic CoaD family
uniprot
proteins
pubmed
11923312
uniprot
proteins
pubmed
11994049
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16460672
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
18088087
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24360804
uniprot
proteins
pubmed
28489334
uniprot
proteins
pubmed
30089828
uniprot
proteins
pubmed
40925986
uniprot
proteins
pubmed
8529999
uniprot
proteins
sequence_length
564
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:24360804, ECO:0000269|PubMed:40925986}. Mitochondrion matrix {ECO:0000269|PubMed:24360804}. Note=The protein is mainly cytosolic and active in the cytosol (PubMed:40925986). Present in the mitochondrial matrix, probably anchored to the inner mitochondrial membrane (PubMed:24360804). {ECO:0000269|PubMed:24360804, ECO:0000269|PubMed:40925986}.
uniprot
proteins