PCCA
entrez
5095
canonical
uniprot
P05165
canonical
ensembl
ENSG00000175198
resolver
ensp
ENSP00000365456
resolver
ensp
ENSP00000365462
resolver
ensp
ENSP00000365463
resolver
ensp
ENSP00000551684
resolver
ensp
ENSP00000551689
resolver
ensp
ENSP00000610912
resolver
ensp
ENSP00000626883
resolver
ensp
ENSP00000707305
resolver
ensp
ENSP00000778804
resolver
ensp
ENSP00000778805
resolver
ensp
ENSP00000778806
resolver
ensp
ENSP00000789017
resolver
genesymbol
PCCA
resolver
hgnc
HGNC:8653
resolver
uniprot
B4DKY8
resolver
uniprot
B4DPF9
resolver
uniprot
C9JPQ8
resolver
uniprot
Q15979
resolver
uniprot
Q8WXQ7
resolver
uniprot_entry
PCCA_HUMAN
resolver
uniprot_sec
B4DKY8
resolver
uniprot_sec
B4DPF9
resolver
uniprot_sec
C9JPQ8
resolver
uniprot_sec
Q15979
resolver
uniprot_sec
Q8WXQ7
resolver
amino_acid_sequence
MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKHVLYYSRQCLMVSRNLGSVGYDPNEKTFDKILVANRGEIACRVIRTCKKMGIKTVAIHSDVDASSVHVKMADEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPGYGFLSENKEFARCLAAEDVVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRDGFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQAVALARAVKYSSAGTVEFLVDSKKNFYFLEMNTRLQVEHPVTECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECRVYAEDPYKSFGLPSIGRLSQYQEPLHLPGVRVDSGIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTHNIALLREVIINSRFVKGDISTKFLSDVYPDGFKGHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWELSVKLHDKVHTVVASNNGSVFSVEVDGSKLNVTSTWNLASPLLSVSVDGTQRTVQCLSREAGGNMSIQFLGTVYKVNILTRLAAELNKFMLEKVTEDTSSVLRSPMPGVVVAVSVKPGDAVAEGQEICVIEAMKMQNSMTAGKTGTVKSVHCQAGDTVGEGDLLVELE
uniprot
proteins
disease_involvement
DISEASE: Propionic acidemia type I (PA-1) [MIM:606054]: Life-threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein. {ECO:0000269|PubMed:10101253, ECO:0000269|PubMed:10329019, ECO:0000269|PubMed:12559849, ECO:0000269|PubMed:15059621}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
6.4.1.3
uniprot
proteins
function
FUNCTION: This is one of the 2 subunits of the biotin-dependent propionyl-CoA carboxylase (PCC), a mitochondrial enzyme involved in the catabolism of odd chain fatty acids, branched-chain amino acids isoleucine, threonine, methionine, and valine and other metabolites (PubMed:6765947, PubMed:8434582). Propionyl-CoA carboxylase catalyzes the carboxylation of propionyl-CoA/propanoyl-CoA to D-methylmalonyl-CoA/(S)-methylmalonyl-CoA (PubMed:10101253, PubMed:6765947, PubMed:8434582). Within the holoenzyme, the alpha subunit catalyzes the ATP-dependent carboxylation of the biotin carried by the biotin carboxyl carrier (BCC) domain, while the beta subunit then transfers the carboxyl group from carboxylated biotin to propionyl-CoA (By similarity). Propionyl-CoA carboxylase also significantly acts on butyryl-CoA/butanoyl-CoA, which is converted to ethylmalonyl-CoA/(2S)-ethylmalonyl-CoA at a much lower rate (PubMed:6765947). Other alternative minor substrates include (2E)-butenoyl-CoA/crotonoyl-CoA (By similarity). {ECO:0000250|UniProtKB:P0DTA4, ECO:0000250|UniProtKB:Q5LUF3, ECO:0000269|PubMed:10101253, ECO:0000269|PubMed:6765947, ECO:0000269|PubMed:8434582}.
uniprot
proteins
mass_dalton
80059
uniprot
proteins
pathway_participation
PATHWAY: Metabolic intermediate metabolism; propanoyl-CoA degradation; succinyl-CoA from propanoyl-CoA: step 1/3. {ECO:0000269|PubMed:6765947, ECO:0000269|PubMed:8434582}.
uniprot
proteins
post_translational_modification
PTM: Acetylated. {ECO:0000250|UniProtKB:Q91ZA3}.; PTM: The biotin cofactor is covalently attached to the C-terminal biotinyl-binding domain and is required for the catalytic activity (PubMed:10329019). Biotinylation is catalyzed by HLCS (PubMed:20443544, PubMed:7753853). {ECO:0000269|PubMed:10329019, ECO:0000269|PubMed:20443544, ECO:0000269|PubMed:7753853}.
uniprot
proteins
pubmed
10101253
uniprot
proteins
pubmed
10329019
uniprot
proteins
pubmed
10502773
uniprot
proteins
pubmed
11592820
uniprot
proteins
pubmed
12559849
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15059621
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16023992
uniprot
proteins
pubmed
20443544
uniprot
proteins
pubmed
20725044
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23438705
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2740237
uniprot
proteins
pubmed
3460076
uniprot
proteins
pubmed
3555348
uniprot
proteins
pubmed
6765947
uniprot
proteins
pubmed
7753853
uniprot
proteins
pubmed
8434582
uniprot
proteins
sequence_length
728
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:10101253, ECO:0000269|PubMed:16023992}.
uniprot
proteins