Gene Gene information from NCBI Gene database.
Entrez ID 10606
Gene name Phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase
Gene symbol PAICS
Synonyms (NCBI Gene)
ADE2ADE2H1AIRCPAICSDPAIS
Chromosome 4
Chromosome location 4q12
Summary This gene encodes a bifunctional enzyme containing phosphoribosylaminoimidazole carboxylase activity in its N-terminal region and phosphoribosylaminoimidazole succinocarboxamide synthetase in its C-terminal region. It catalyzes steps 6 and 7 of purine bio
miRNA miRNA information provided by mirtarbase database.
908
miRTarBase ID miRNA Experiments Reference
MIRT028487 hsa-miR-30a-5p Proteomics 18668040
MIRT044654 hsa-miR-320a CLASH 23622248
MIRT040996 hsa-miR-505-3p CLASH 23622248
MIRT664709 hsa-miR-1245a HITS-CLIP 23824327
MIRT664708 hsa-miR-8079 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003824 Function Catalytic activity IEA
GO:0004638 Function Phosphoribosylaminoimidazole carboxylase activity IDA 27590927
GO:0004638 Function Phosphoribosylaminoimidazole carboxylase activity IEA
GO:0004638 Function Phosphoribosylaminoimidazole carboxylase activity IMP 31600779
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
172439 8587 ENSG00000128050
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P22234
Protein name Bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase (PAICS) [Includes: Phosphoribosylaminoimidazole carboxylase (EC 4.1.1.21) (AIR carboxylase) (AIRC); Phosphoribosylaminoimidazole succinocarbox
Protein 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, E
PDB 2H31 , 6YB8 , 6YB9 , 7ALE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01259 SAICAR_synt 12 248 SAICAR synthetase Family
PF00731 AIRC 267 409 AIR carboxylase Domain
Sequence
Sequence length 425
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Purine metabolism
Metabolic pathways
  Purine ribonucleoside monophosphate biosynthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Phosphoribosylaminoimidazole carboxylase deficiency Pathogenic rs192831239 RCV002248317
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
DEFICIENCY OF PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
46, XY Disorders of Sex Development 46, XY disorder of sex development BEFREE 20150575, 24186597, 29306929
★☆☆☆☆
Found in Text Mining only
5-Alpha Reductase Deficiency 5-alpha reductase deficiency BEFREE 29306929
★☆☆☆☆
Found in Text Mining only
Androgen-Insensitivity Syndrome Androgen-Insensitivity Syndrome BEFREE 10022458, 11380707, 11788616, 24186597, 9039340
★☆☆☆☆
Found in Text Mining only
Atrophy Atrophy Pubtator 39604553 Associate
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 39604553 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28411283
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 30097015 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 30097015 Associate
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 28289240
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 29456503
★☆☆☆☆
Found in Text Mining only