PPCS
entrez
79717
canonical
uniprot
Q9HAB8
canonical
ensembl
ENSG00000127125
resolver
ensp
ENSP00000361642
resolver
ensp
ENSP00000361643
resolver
genesymbol
PPCS
resolver
genesymbol_syn
COAB
resolver
hgnc
HGNC:25686
resolver
uniprot
Q3KQT2
resolver
uniprot
Q5VVM0
resolver
uniprot_entry
PPCS_HUMAN
resolver
uniprot_sec
Q3KQT2
resolver
uniprot_sec
Q5VVM0
resolver
amino_acid_sequence
MAEMDPVAEFPQPPGAARWAEVMARFAARLGAQGRRVVLVTSGGTKVPLEARPVRFLDNFSSGRRGATSAEAFLAAGYGVLFLYRARSAFPYAHRFPPQTWLSALRPSGPALSGLLSLEAEENALPGFAEALRSYQEAAAAGTFLAVEFTTLADYLHLLQAAAQALNPLGPSAMFYLAAAVSDFYVPVSEMPEHKIQSSGGPLQITMKMVPKLLSPLVKDWAPKAFIISFKLETDPAIVINRARKALEIYQHQVVVANILESRQSFVFIVTKDSETKLLLSEEEIEKGVEIEEKIVDNLQSRHTAFIGDRN
uniprot
proteins
disease_involvement
DISEASE: Cardiomyopathy, dilated, 2C (CMD2C) [MIM:618189]: A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2C is an autosomal recessive form with variable severity and age of onset ranging from 2 to 20 years. Death in infancy or early childhood may occur in severely affected children. {ECO:0000269|PubMed:29754768}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
6.3.2.51
uniprot
proteins
function
FUNCTION: Catalyzes the second step in the biosynthesis of coenzyme A from vitamin B5, where cysteine is conjugated to 4'-phosphopantothenate to form 4-phosphopantothenoylcysteine (PubMed:11923312, PubMed:12906824, PubMed:29754768). Has a preference for ATP over CTP as a cosubstrate (PubMed:11923312). {ECO:0000269|PubMed:11923312, ECO:0000269|PubMed:12906824, ECO:0000269|PubMed:29754768}.
uniprot
proteins
mass_dalton
34005
uniprot
proteins
pathway_participation
PATHWAY: Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 2/5. {ECO:0000269|PubMed:11923312, ECO:0000269|PubMed:29754768}.
uniprot
proteins
protein_family
PPC synthetase family
uniprot
proteins
pubmed
11923312
uniprot
proteins
pubmed
12906824
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
29754768
uniprot
proteins
sequence_length
311
uniprot
proteins