PC
entrez
5091
canonical
uniprot
P11498
canonical
ensembl
ENSG00000173599
resolver
ensp
ENSP00000377527
resolver
ensp
ENSP00000377530
resolver
ensp
ENSP00000377532
resolver
ensp
ENSP00000435905
resolver
ensp
ENSP00000498302
resolver
ensp
ENSP00000552312
resolver
ensp
ENSP00000552315
resolver
ensp
ENSP00000552329
resolver
ensp
ENSP00000552333
resolver
ensp
ENSP00000552335
resolver
ensp
ENSP00000552337
resolver
genesymbol
PC
resolver
hgnc
HGNC:8636
resolver
uniprot
B4DN00
resolver
uniprot
Q16705
resolver
uniprot_entry
PYC_HUMAN
resolver
uniprot_sec
B4DN00
resolver
uniprot_sec
Q16705
resolver
amino_acid_sequence
MLKFRTVHGGLRLLGIRRTSTAPAASPNVRRLEYKPIKKVMVANRGEIAIRVFRACTELGIRTVAIYSEQDTGQMHRQKADEAYLIGRGLAPVQAYLHIPDIIKVAKENNVDAVHPGYGFLSERADFAQACQDAGVRFIGPSPEVVRKMGDKVEARAIAIAAGVPVVPGTDAPITSLHEAHEFSNTYGFPIIFKAAYGGGGRGMRVVHSYEELEENYTRAYSEALAAFGNGALFVEKFIEKPRHIEVQILGDQYGNILHLYERDCSIQRRHQKVVEIAPAAHLDPQLRTRLTSDSVKLAKQVGYENAGTVEFLVDRHGKHYFIEVNSRLQVEHTVTEEITDVDLVHAQIHVAEGRSLPDLGLRQENIRINGCAIQCRVTTEDPARSFQPDTGRIEVFRSGEGMGIRLDNASAFQGAVISPHYDSLLVKVIAHGKDHPTAATKMSRALAEFRVRGVKTNIAFLQNVLNNQQFLAGTVDTQFIDENPELFQLRPAQNRAQKLLHYLGHVMVNGPTTPIPVKASPSPTDPVVPAVPIGPPPAGFRDILLREGPEGFARAVRNHPGLLLMDTTFRDAHQSLLATRVRTHDLKKIAPYVAHNFSKLFSMENWGGATFDVAMRFLYECPWRRLQELRELIPNIPFQMLLRGANAVGYTNYPDNVVFKFCEVAKENGMDVFRVFDSLNYLPNMLLGMEAAGSAGGVVEAAISYTGDVADPSRTKYSLQYYMGLAEELVRAGTHILCIKDMAGLLKPTACTMLVSSLRDRFPDLPLHIHTHDTSGAGVAAMLACAQAGADVVDVAADSMSGMTSQPSMGALVACTRGTPLDTEVPMERVFDYSEYWEGARGLYAAFDCTATMKSGNSDVYENEIPGGQYTNLHFQAHSMGLGSKFKEVKKAYVEANQMLGDLIKVTPSSKIVGDLAQFMVQNGLSRAEAEAQAEELSFPRSVVEFLQGYIGVPHGGFPEPFRSKVLKDLPRVEGRPGASLPPLDLQALEKELVDRHGEEVTPEDVLSAAMYPDVFAHFKDFTATFGPLDSLNTRLFLQGPKIAEEFEVELERGKTLHIKALAVSDLNRAGQRQVFFELNGQLRSILVKDTQAMKEMHFHPKALKDVKGQIGAPMPGKVIDIKVVAGAKVAKGQPLCVLSAMKMETVVTSPMEGTVRKVHVTKDMTLEGDDLILEIE
uniprot
proteins
disease_involvement
DISEASE: Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]: Leads to lactic acidosis, intellectual disability and death. It occurs in three forms: mild or type A, severe neonatal or type B, and a very mild lacticacidemia. {ECO:0000269|PubMed:19306334, ECO:0000269|PubMed:9585002, ECO:0000269|PubMed:9585612}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
6.4.1.1
uniprot
proteins
function
FUNCTION: Pyruvate carboxylase catalyzes a 2-step reaction, involving the ATP-dependent carboxylation of the covalently attached biotin in the first step and the transfer of the carboxyl group to pyruvate in the second. Catalyzes in a tissue specific manner, the initial reactions of glucose (liver, kidney) and lipid (adipose tissue, liver, brain) synthesis from pyruvate. {ECO:0000269|PubMed:9585002}.
uniprot
proteins
mass_dalton
129634
uniprot
proteins
mutagenesis
MUTAGEN 1077; /note="F->A,E: Loss of tetramerization and enzyme activity, resulting in an inactive homodimer."; /evidence="ECO:0000269|PubMed:18297087
uniprot
proteins
pathway_participation
PATHWAY: Carbohydrate biosynthesis; gluconeogenesis. {ECO:0000305|PubMed:9585002}.
uniprot
proteins
post_translational_modification
PTM: Acetylation of Lys-748 might play a role in catalytic activity regulation. {ECO:0000250|UniProtKB:Q05920}.
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
18297087
uniprot
proteins
pubmed
19306334
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23438705
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
3555348
uniprot
proteins
pubmed
6548474
uniprot
proteins
pubmed
7918683
uniprot
proteins
pubmed
8048912
uniprot
proteins
pubmed
9585002
uniprot
proteins
pubmed
9585612
uniprot
proteins
sequence_length
1178
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:9585002}.
uniprot
proteins