PAICS
entrez
10606
canonical
uniprot
P22234
canonical
ensembl
ENSG00000128050
resolver
ensp
ENSP00000264221
resolver
ensp
ENSP00000382595
resolver
ensp
ENSP00000421096
resolver
ensp
ENSP00000424053
resolver
ensp
ENSP00000549812
resolver
genesymbol
PAICS
resolver
genesymbol_syn
ADE2
resolver
genesymbol_syn
AIRC
resolver
genesymbol_syn
PAIS
resolver
hgnc
HGNC:8587
resolver
uniprot
E9PDH9
resolver
uniprot
Q68CQ5
resolver
uniprot_entry
PUR6_HUMAN
resolver
uniprot_sec
E9PDH9
resolver
uniprot_sec
Q68CQ5
resolver
amino_acid_sequence
MATAEVLNIGKKLYEGKTKEVYELLDSPGKVLLQSKDQITAGNAARKNHLEGKAAISNKITSCIFQLLQEAGIKTAFTRKCGETAFIAPQCEMIPIEWVCRRIATGSFLKRNPGVKEGYKFYPPKVELFFKDDANNDPQWSEEQLIAAKFCFAGLLIGQTEVDIMSHATQAIFEILEKSWLPQNCTLVDMKIEFGVDVTTKEIVLADVIDNDSWRLWPSGDRSQQKDKQSYRDLKEVTPEGLQMVKKNFEWVAERVELLLKSESQCRVVVLMGSTSDLGHCEKIKKACGNFGIPCELRVTSAHKGPDETLRIKAEYEGDGIPTVFVAVAGRSNGLGPVMSGNTAYPVISCPPLTPDWGVQDVWSSLRLPSGLGCSTVLSPEGSAQFAAQIFGLSNHLVWSKLRASILNTWISLKQADKKIRECNL
uniprot
proteins
disease_involvement
DISEASE: Phosphoribosylaminoimidazole carboxylase deficiency (PAICSD) [MIM:619859]: An autosomal recessive inborn error of purine metabolism, clinically characterized by multiple congenital anomalies and early neonatal death. {ECO:0000269|PubMed:31600779}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
4.1.1.21
uniprot
proteins
ec_number
6.3.2.6
uniprot
proteins
function
FUNCTION: Bifunctional phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazole succinocarboxamide synthetase catalyzing two reactions of the de novo purine biosynthetic pathway. {ECO:0000269|PubMed:17224163, ECO:0000269|PubMed:2183217, ECO:0000269|PubMed:31600779}.
uniprot
proteins
mass_dalton
47079
uniprot
proteins
mutagenesis
MUTAGEN 303; /note="H->Y: Loss of phosphoribosylaminoimidazole carboxylase activity."; /evidence="ECO:0000269|PubMed:17224163"; MUTAGEN 332; /note="S->A: Loss of phosphoribosylaminoimidazole carboxylase activity."; /evidence="ECO:0000269|PubMed:17224163"; MUTAGEN 334; /note="G->A: Loss of phosphoribosylaminoimidazole carboxylase activity."; /evidence="ECO:0000269|PubMed:17224163"; MUTAGEN 400; /note="S->A: No effect on phosphoribosylaminoimidazole carboxylase activity."; /evidence="ECO:0000269|PubMed:17224163
uniprot
proteins
pathway_participation
PATHWAY: Purine metabolism; IMP biosynthesis via de novo pathway; 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide from 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxylate: step 1/2. {ECO:0000305|PubMed:31600779}.; PATHWAY: Purine metabolism; IMP biosynthesis via de novo pathway; 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxylate from 5-amino-1-(5-phospho-D-ribosyl)imidazole (carboxylase route): step 1/1. {ECO:0000305|PubMed:31600779}.
uniprot
proteins
protein_family
Class II subfamily
uniprot
proteins
protein_family
SAICAR synthetase family; AIR carboxylase family
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17224163
uniprot
proteins
pubmed
17924679
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
2183217
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
2253271
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
31600779
uniprot
proteins
sequence_length
425
uniprot
proteins