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PAICS Gene(Protein Coding)

Phosphoribosylaminoimidazole Carboxylase And Phosphoribosylaminoimidazolesuccinocarboxamide Synthase

GCID:
GC04P056410
GIFtS:
58

Aliases for PAICS Gene

Aliases for PAICS Gene

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

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

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. Among its related pathways are Purine metabolism (REACTOME) and Metabolism. GO annotations related to this gene include identical protein binding and phosphoribosylaminoimidazolesuccinocarboxamide synthase activity.

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PAICS Gene

Genomics for PAICS Gene

Regulatory Elements for PAICS Gene

Enhancers for PAICS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G056465 1.3 ENCODE dbSUPER 11.9 +31.4 31410 4.3 HDGF PKNOX1 CREB3L1 ARNT AGO1 ARID4B SIN3A FEZF1 YY1 FOS SRP72 PPAT PAICS ENSG00000251799 SPINK2 ARL9 GC04M056462
GH04G056408 1.1 Ensembl ENCODE 11.9 -25.3 -25325 2.9 PKNOX1 FOXA2 ARNT BMI1 ZBTB40 YY1 FOS ZNF362 ZHX2 REST SRP72 AASDH PAICS PPAT ENSG00000269921 ENSG00000251799 SPINK2 LOC100506514
GH04G056799 1.1 Ensembl ENCODE 10.6 +364.4 364393 1.5 ATF1 TBL1XR1 WRNIP1 ZNF48 RAD21 YY1 GATA2 ZNF143 RELB IKZF2 SPINK2 PPAT PAICS NOA1 POLR2B SRP72 REST ENSG00000269949 LOC105377668 GC04P056807
GH04G056836 0.9 Ensembl ENCODE 10.3 +401.1 401060 0.4 CTCF ZNF654 TRIM22 REST RAD21 SMC3 HMBOX1 ZNF143 SRP72 REST HOPX PAICS PPAT AASDH SPINK2 GC04P056899
GH04G056459 0.7 dbSUPER 12.2 +24.6 24583 1.6 PAF1 CEBPB ZEB2 CEBPG ZBTB40 ZNF518A POLR2A PBX2 ZSCAN5C SCRT2 ARL9 SRP72 PAICS PPAT AASDH ENSG00000251799 SPINK2 GC04P056465 GC04P056437 GC04P056436
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PAICS on UCSC Golden Path with GeneCards custom track

Promoters for PAICS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000168659 359 4200 HDGF PKNOX1 FOXA2 MLX CREB3L1 ARNT AGO1 ZFP64 WRNIP1 ARID4B

Genomic Location for PAICS Gene

Chromosome:
4
Start:
56,435,741 bp from pter
End:
56,464,579 bp from pter
Size:
28,839 bases
Orientation:
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:
    P22234-PUR6_HUMAN
    Recommended name:
    Multifunctional protein ADE2
    Protein Accession:
    P22234
    Secondary Accessions:
    • E9PDH9
    • Q68CQ5

    Protein attributes for PAICS Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for PAICS Gene

Post-translational modifications for PAICS Gene

  • Ubiquitination at posLast=3636, posLast=7474, Lys80, Lys125, Lys286, posLast=304304, and Lys414
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PAICS Gene

Domains & Families for PAICS Gene

Suggested Antigen Peptide Sequences for PAICS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P22234

UniProtKB/Swiss-Prot:

PUR6_HUMAN :
  • In the N-terminal section; belongs to the SAICAR synthetase family.
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

No data available for Gene Families for PAICS Gene

Function for PAICS Gene

Molecular function for PAICS Gene

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
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxylate + L-aspartate = ADP + phosphate + (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate.
UniProtKB/Swiss-Prot CatalyticActivity:
5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxylate = 5-amino-1-(5-phospho-D-ribosyl)imidazole + CO(2).

Gene Ontology (GO) - Molecular Function for PAICS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004638 phosphoribosylaminoimidazole carboxylase activity TAS --
GO:0004639 phosphoribosylaminoimidazolesuccinocarboxamide synthase activity TAS --
GO:0005515 protein binding IPI 16189514
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with PAICS: view
genes like me logo Genes that share phenotypes with PAICS: view

Animal Model Products

CRISPR Products

miRNA for PAICS Gene

miRTarBase miRNAs that target PAICS

Inhibitory RNA Products

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

COMPARTMENTS
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 5
cytosol 5
mitochondrion 2
peroxisome 1
nucleus 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

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 IDA 19946888
GO:0070062 extracellular exosome IDA 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
L-Aspartic acid Approved Nutra Target 0
Carbon dioxide Approved, Vet_approved Pharma 0
Phosphoric acid Approved Pharma 0
Adenosine triphosphate Approved Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
SAICAR
  • (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate
  • (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinic acid
  • (S)-2-(5-amino-1-(5-phospho-delta-ribosyl)imidazole-4-carboxamido)succinate
  • (S)-2-(5-amino-1-(5-phospho-delta-ribosyl)imidazole-4-carboxamido)succinic acid
  • (S)-2-[5-Amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido]succinate
3031-95-6
5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxylate
  • 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
  • 4-Carboxy-5-aminoimidazole ribonucleotide
5-Aminoimidazole ribonucleotide
  • 1-(5'-Phosphoribosyl)-5-aminoimidazole
  • 1-(5-Phospho-D-ribosyl)-5-aminoimidazole
  • 5'-Phosphoribosyl-5-aminoimidazole
  • 5-Amino-1-(5-phospho-D-ribosyl)imidazole
  • 5-Aminoimidazole ribonucleotide
25635-88-5
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
genes like me logo Genes that share compounds with PAICS: view

Transcripts for PAICS Gene

Unigene Clusters for PAICS Gene

Phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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: - -
SP6:
SP7: -

Relevant External Links for PAICS Gene

GeneLoc Exon Structure for
PAICS
ECgene alternative splicing isoforms for
PAICS

Expression for PAICS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for PAICS Gene



Protein tissue co-expression partners for PAICS Gene

NURSA nuclear receptor signaling pathways regulating expression of PAICS Gene:

PAICS

SOURCE GeneReport for Unigene cluster for PAICS Gene:

Hs.518774

Evidence on tissue expression from TISSUES for PAICS Gene

  • Liver(4.7)
  • Eye(4.6)
  • Lung(4.5)
  • Nervous system(4.4)
  • Intestine(3)
  • Skin(2.9)
  • Kidney(2.7)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with PAICS: view

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia PAICS 34 35
  • 99.31 (n)
dog
(Canis familiaris)
Mammalia PAICS 34 35
  • 93.02 (n)
cow
(Bos Taurus)
Mammalia PAICS 34 35
  • 91.69 (n)
oppossum
(Monodelphis domestica)
Mammalia PAICS 35
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Paics 34
  • 88.78 (n)
mouse
(Mus musculus)
Mammalia Paics 34 16 35
  • 87.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PAICS 35
  • 32 (a)
OneToOne
chicken
(Gallus gallus)
Aves AIRC 35
  • 83 (a)
OneToOne
PAICS 34
  • 80.49 (n)
lizard
(Anolis carolinensis)
Reptilia PAICS 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488155 34
  • 74.75 (n)
Str.2996 34
African clawed frog
(Xenopus laevis)
Amphibia paics-prov 34
zebrafish
(Danio rerio)
Actinopterygii paics 34 35
  • 71.29 (n)
fruit fly
(Drosophila melanogaster)
Insecta ade5 36 34 35
  • 56.94 (n)
CG17024 36
  • 42 (a)
CG40801 35
  • 41 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000180 34
  • 53.91 (n)
worm
(Caenorhabditis elegans)
Secernentea B0286.3 36 34 35
  • 53.78 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE1 37
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 47 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5525 34
Species where no ortholog for PAICS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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

ENSEMBL:
Gene Tree for PAICS (if available)
TreeFam:
Gene Tree for PAICS (if available)

Paralogs for PAICS Gene

No data available for Paralogs for PAICS Gene

Variants for PAICS Gene

Sequence variations from dbSNP and Humsavar for PAICS Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000020801 -- 56,449,705(+) AGGCG(C/T)GGTGG intron-variant
rs1000028114 -- 56,434,461(+) TTATC(C/T)TAGTG intron-variant, upstream-variant-2KB
rs10001639 -- 56,454,072(+) ccagg(G/T)ttttg intron-variant
rs1000350256 -- 56,439,083(+) TCTAC(C/T)CATTA intron-variant
rs1000422030 -- 56,439,305(+) CATCT(C/T)AGCTC intron-variant

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)

Relevant External Links for PAICS Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PAICS

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

Disorders for PAICS Gene

Relevant External Links for PAICS

Genetic Association Database (GAD)
PAICS
Human Genome Epidemiology (HuGE) Navigator
PAICS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PAICS

No disorders were found for PAICS Gene.

No data available for MalaCards , 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. (Curr. Genet. 1990) 2 3 4 22 64
  2. 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. (Biol. Psychiatry 2010) 3 46 64
  3. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G. … White R.L. (Alcohol. Clin. Exp. Res. 2010) 3 46 64
  4. Octameric structure of the human bifunctional enzyme PAICS in purine biosynthesis. (PMID: 17224163) Li S.-X. … Bi R.-C. (J. Mol. Biol. 2007) 4 22 64
  5. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil S.A. … Gygi S.P. (Nat. Biotechnol. 2006) 3 4 64

Products for PAICS Gene

Sources for PAICS Gene

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