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 biosynthesis. The gene is closely linked and divergently transcribed with a locus that encodes an enzyme in the same pathway, an... See more...

Aliases for PAICS Gene

Aliases for PAICS Gene

  • Phosphoribosylaminoimidazole Carboxylase And Phosphoribosylaminoimidazolesuccinocarboxamide Synthase 2 3 5
  • AIRC 2 3 4
  • Phosphoribosylaminoimidazole Carboxylase, Phosphoribosylaminoimidazole Succinocarboxamide Synthetase 2 3
  • Multifunctional Protein ADE2 3 4
  • ADE2H1 2 3
  • ADE2 3 4
  • PAIS 3 4
  • Phosphoribosylaminoimidazole Carboxylase; Phosphoribosylaminoimidazolesuccinocarboxamide Synthase 3
  • Multifunctional Protein ADE2H1 3
  • SAICAR Synthetase 3
  • AIR Carboxylase 3
  • PAICS 5

External Ids for PAICS Gene

Previous HGNC Symbols for PAICS Gene

  • PAIS

Previous GeneCards Identifiers for PAICS Gene

  • GC04P057105
  • GC04P057263
  • GC04P057217
  • GC04P057143
  • GC04P056996
  • GC04P057301
  • GC04P053256
  • GC04P056435

Summaries for PAICS Gene

Entrez Gene Summary for PAICS Gene

  • 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 biosynthesis. The gene is closely linked and divergently transcribed with a locus that encodes an enzyme in the same pathway, and transcription of the two genes is coordinately regulated. The human genome contains several pseudogenes of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for PAICS Gene

PAICS (Phosphoribosylaminoimidazole Carboxylase And Phosphoribosylaminoimidazolesuccinocarboxamide Synthase) is a Protein Coding gene. Diseases associated with PAICS include Spinocerebellar Ataxia, X-Linked 1 and Actinomycosis. Among its related pathways are Metabolism of nucleotides and Metabolism. Gene Ontology (GO) annotations related to this gene include identical protein binding and phosphoribosylaminoimidazolesuccinocarboxamide synthase activity.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PAICS Gene

Genomics for PAICS Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PAICS Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J056432 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 250.3 +25.4 25394 7 BCLAF1 SP1 ZNF207 NCOR1 MYC ZNF600 SSRP1 JUND ZNF580 ZNF592 HSALNG0034588 PPAT PAICS SRP72 AASDH CEP135 RN7SKP30 POLR2B ENSG00000269921 ARL9
GH04J056408 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 250.7 -0.1 -90 2.9 JUND ATF3 POLR2A YY1 REST SIX4 ZNF217 SIN3A NFATC3 FOXA2 ENSG00000283156 PAICS lnc-PAICS-7 SRP72 AASDH PPAT ENSG00000269921 ENSG00000251799 SPINK2
GH04J056412 Enhancer 0.2 FANTOM5 250.7 +1.7 1668 0.2 ENSG00000283156 PAICS lnc-PAICS-7 AASDH PPAT
GH04J056465 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.2 +56.9 56897 4.8 NCOR1 ZNF600 MYC IKZF1 ZNF592 KLF9 POLR2A NFIC YY1 REST SRP72 lnc-PPAT-1 AASDH ARL9 PPAT PAICS ENSG00000251799 SPINK2 lnc-PAICS-1
GH04J056799 Promoter/Enhancer 1.2 ENCODE CraniofacialAtlas 10.6 +389.6 389627 1.5 BCLAF1 NCOR1 ZNF654 YY1 REST TRIM22 BHLHE40 HOMEZ CTCF ZNF217 SPINK2 PPAT PAICS NOA1 POLR2B SRP72 REST ENSG00000269949 lnc-SPINK2-2 lnc-REST-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PAICS on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PAICS

Top Transcription factor binding sites by QIAGEN in the PAICS gene promoter:
  • AREB6
  • CP2
  • MyoD
  • p53
  • STAT3

Genomic Locations for PAICS Gene

Latest Assembly
54,072 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
28,827 bases
Plus strand

(GRCh37/hg19 by Ensembl)
25,628 bases
Plus strand

Genomic View for PAICS Gene

Genes around PAICS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PAICS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PAICS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAICS Gene

Proteins for PAICS Gene

  • Protein details for PAICS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Multifunctional protein ADE2
    Protein Accession:
    Secondary Accessions:
    • E9PDH9
    • Q68CQ5

    Protein attributes for PAICS Gene

    425 amino acids
    Molecular mass:
    47079 Da
    Quaternary structure:
    • Homooctamer.

    Three dimensional structures from OCA and Proteopedia for PAICS Gene

    Alternative splice isoforms for PAICS Gene


neXtProt entry for PAICS Gene

Post-translational modifications for PAICS Gene

  • Ubiquitination at Lys11, Lys30, Lys36, Lys74, Lys80, Lys110, Lys125, Lys286, Lys304, and Lys414
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PAICS Gene

Domains & Families for PAICS Gene

Gene Families for PAICS Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for PAICS Gene

  • 1-(5-Phosphoribosyl)-5-amino-4-imidazole-carboxylate (AIR) carboxylase
  • SAICAR synthetase

Suggested Antigen Peptide Sequences for PAICS Gene

GenScript: Design optimal peptide antigens:
  • Multifunctional protein ADE2 (PUR6_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • In the N-terminal section; belongs to the SAICAR synthetase family.
  • In the N-terminal section; belongs to the SAICAR synthetase family.
  • In the C-terminal section; belongs to the AIR carboxylase family. Class II subfamily.
genes like me logo Genes that share domains with PAICS: view

Function for PAICS Gene

Molecular function for PAICS Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxylate + ATP + L-aspartate = (2S)-2-[5-amino-1-(5-phospho-beta-D-ribosyl)imidazole-4-carboxamido]succinate + ADP + 2 H(+) + phosphate; Xref=Rhea:RHEA:22628, ChEBI:CHEBI:15378, ChEBI:CHEBI:29991, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:58443, ChEBI:CHEBI:77657, ChEBI:CHEBI:456216; EC=;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxylate + H(+) = 5-amino-1-(5-phospho-beta-D-ribosyl)imidazole + CO2; Xref=Rhea:RHEA:10792, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:77657, ChEBI:CHEBI:137981; EC=;.
GENATLAS Biochemistry:
lamino imidazole ribonucleotide (AIR) carboxylase (complementing Ade-D mutants in CHO cells) and catalyzing respectively the sixth and seventh steps of the novo purine biosynthesis

Phenotypes From GWAS Catalog for PAICS Gene

Gene Ontology (GO) - Molecular Function for PAICS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003824 catalytic activity IEA --
GO:0004638 phosphoribosylaminoimidazole carboxylase activity IEA --
GO:0004639 phosphoribosylaminoimidazolesuccinocarboxamide synthase activity TAS,IEA --
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with PAICS: view
genes like me logo Genes that share phenotypes with PAICS: view

miRNA for PAICS Gene

miRTarBase miRNAs that target PAICS

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PAICS

Clone products for research

  • Addgene plasmids for PAICS

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PAICS Gene

Localization for PAICS Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PAICS gene
Compartment Confidence
extracellular 4
cytosol 4
nucleus 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
golgi apparatus 2
peroxisome 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PAICS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 25468996
GO:0005829 cytosol TAS --
GO:0016020 membrane HDA 19946888
GO:0070062 extracellular exosome HDA 20458337
genes like me logo Genes that share ontologies with PAICS: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PAICS Gene

Pathways & Interactions for PAICS Gene

genes like me logo Genes that share pathways with PAICS: view

Pathways by source for PAICS Gene

UniProtKB/Swiss-Prot P22234-PUR6_HUMAN

  • 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.
  • 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.

Gene Ontology (GO) - Biological Process for PAICS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006164 purine nucleotide biosynthetic process IEA --
GO:0006189 'de novo' IMP biosynthetic process IEA --
GO:0008152 metabolic process IEA --
GO:0009113 purine nucleobase biosynthetic process TAS 2253271
GO:0009168 purine ribonucleoside monophosphate biosynthetic process TAS --
genes like me logo Genes that share ontologies with PAICS: view

No data available for SIGNOR curated interactions for PAICS Gene

Drugs & Compounds for PAICS Gene

(6) Drugs for PAICS Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aspartic acid Approved Nutra Target, substrate 195
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

(9) Additional Compounds for PAICS Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (2S)-2-[5-Amino-1-(5-phospho-beta-D-ribosyl)imidazole-4-carboxamido]succinic acid
  • (S)-2-[5-Amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido]succinate
  • 1-(5'-Phosphoribosyl)-4-(N-succinocarboxamide)-5-aminoimidazole
  • 1-(5'-Phosphoribosyl)-5-amino-4-(N-succinocarboxamide)-imidazole
  • 5'-Phosphoribosyl-4-(N-succinocarboxamide)-5-aminoimidazole
5-Amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxylic acid
  • 1-(5'-Phosphoribosyl)-4-carboxy-5-aminoimidazole
  • 1-(5'-Phosphoribosyl)-5-amino-4-carboxyimidazole
  • 1-(5'-Phosphoribosyl)-5-amino-4-imidazolecarboxylate
  • 1-(5-Phospho-D-ribosyl)-5-amino-4-imidazolecarboxylate
  • 5'-Phosphoribosyl-4-carboxy-5-aminoimidazole
5-Aminoimidazole ribonucleotide
  • 1-(5'-Phosphoribosyl)-5-aminoimidazole
  • 1-(5-Phospho-D-ribosyl)-5-aminoimidazole
  • 5'-Phosphoribosyl-5-aminoimidazole
  • 5-Amino-1-beta-D-ribofuranosyl-5'-(dihydrogen phosphate)-imidazole
  • 5-Amino-1-ribofuranosylimidazole 5'-phosphate
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
genes like me logo Genes that share compounds with PAICS: view

Transcripts for PAICS Gene

mRNA/cDNA for PAICS Gene

16 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PAICS

Clone products for research

  • Addgene plasmids for PAICS

Alternative Splicing Database (ASD) splice patterns (SP) for PAICS Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b
SP1: - - - -
SP2: - - - - - -
SP3: - - - - -
SP4: - -
SP5: - -
SP7: -

Relevant External Links for PAICS Gene

GeneLoc Exon Structure for

Expression for PAICS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PAICS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PAICS Gene

This gene is overexpressed in Peripheral blood mononuclear cells (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PAICS Gene

Protein tissue co-expression partners for PAICS Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PAICS

SOURCE GeneReport for Unigene cluster for PAICS Gene:


Evidence on tissue expression from TISSUES for PAICS Gene

  • Liver(4.7)
  • Nervous system(4.6)
  • Eye(4.6)
  • Lung(4.6)
  • Blood(4.6)
  • Skin(3.8)
  • Intestine(3.5)
  • Kidney(3.2)
  • Stomach(2.6)
  • Heart(2.5)
  • Muscle(2.3)
  • Spleen(2.1)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with PAICS: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PAICS Gene

Orthologs for PAICS Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PAICS Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PAICS 29 30
  • 99.31 (n)
(Canis familiaris)
Mammalia PAICS 29 30
  • 93.02 (n)
(Bos Taurus)
Mammalia PAICS 29 30
  • 91.69 (n)
(Monodelphis domestica)
Mammalia PAICS 30
  • 89 (a)
(Rattus norvegicus)
Mammalia Paics 29
  • 88.78 (n)
(Mus musculus)
Mammalia Paics 29 16 30
  • 87.76 (n)
(Ornithorhynchus anatinus)
Mammalia PAICS 30
  • 32 (a)
(Gallus gallus)
Aves AIRC 30
  • 83 (a)
  • 80.49 (n)
(Anolis carolinensis)
Reptilia PAICS 30
  • 81 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100488155 29
  • 74.75 (n)
Str.2996 29
African clawed frog
(Xenopus laevis)
Amphibia paics-prov 29
(Danio rerio)
Actinopterygii paics 29 30
  • 71.29 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta ade5 29 30 31
  • 56.94 (n)
CG17024 31
  • 42 (a)
CG40801 30
  • 41 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000180 29
  • 53.91 (n)
(Caenorhabditis elegans)
Secernentea B0286.3 29 30 31
  • 53.78 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE1 32
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 47 (a)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.5525 29
Species where no ortholog for PAICS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PAICS Gene

Gene Tree for PAICS (if available)
Gene Tree for PAICS (if available)
Evolutionary constrained regions (ECRs) for PAICS: view image
Alliance of Genome Resources:
Additional Orthologs for PAICS

Paralogs for PAICS Gene

No data available for Paralogs for PAICS Gene

Variants for PAICS Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PAICS Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs552713157 Likely Benign: not provided 56,435,340(+) T/A
rs11549976 -- p.Lys201Asn

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PAICS Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PAICS Gene

Variant ID Type Subtype PubMed ID
dgv5213n100 CNV gain 25217958
nsv1161086 CNV duplication 26073780

Variation tolerance for PAICS Gene

Residual Variation Intolerance Score: 90.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.99; 60.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PAICS Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAICS Gene

Disorders for PAICS Gene

MalaCards: The human disease database

(12) MalaCards diseases for PAICS Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search PAICS in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PAICS

Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PAICS: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PAICS Gene

Publications for PAICS Gene

  1. Cloning and sequencing of a human cDNA coding for a multifunctional polypeptide of the purine pathway by complementation of the ade2-101 mutant in Saccharomyces cerevisiae. (PMID: 2253271) Minet M … Lacroute F (Current genetics 1990) 2 3 4 22
  2. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G … White RL (Alcoholism, clinical and experimental research 2010) 3 40
  3. Identification of novel candidate genes for treatment response to risperidone and susceptibility for schizophrenia: integrated analysis among pharmacogenomics, mouse expression, and genetic case-control association approaches. (PMID: 19850283) Ikeda M … Iwata N (Biological psychiatry 2010) 3 40
  4. Octameric structure of the human bifunctional enzyme PAICS in purine biosynthesis. (PMID: 17224163) Li SX … Bi RC (Journal of molecular biology 2007) 4 22
  5. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4

Products for PAICS Gene

Sources for PAICS Gene