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Aliases for PAICS Gene

Aliases for PAICS Gene

  • Phosphoribosylaminoimidazole Carboxylase; Phosphoribosylaminoimidazolesuccinocarboxamide Synthase 2 3
  • Phosphoribosylaminoimidazole Carboxylase, Phosphoribosylaminoimidazole Succinocarboxamide Synthetase 2 3
  • PAIS 3 4
  • ADE2 3 4
  • AIRC 3 4
  • Phosphoribosylaminoimidazole Carboxylase Phosphoribosylaminoimidazolesuccinocarboxamide Synthase 5
  • Multifunctional Protein ADE2H1 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; Phosphoribosylaminoimidazolesuccinocarboxamide Synthase) is a Protein Coding gene. Among its related pathways are Metabolism and Purine metabolism. GO annotations related to this gene include identical protein binding and phosphoribosylaminoimidazolesuccinocarboxamide synthase activity.

No data available for 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

Promoters for PAICS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PAICS on UCSC Golden Path with GeneCards custom track

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

Proteomics data for PAICS Gene at MOPED

Post-translational modifications for PAICS Gene

  • Ubiquitination at Lys 36, Lys 74, Lys 80, Lys 125, Lys 286, Lys 304, and Lys 414
  • Modification sites at PhosphoSitePlus

Other Protein References for PAICS Gene

Antibody Products

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:0005515 protein binding IPI 16189514
GO:0042802 identical protein binding IPI 16169070
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

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
Jensen Localization Image for PAICS Gene COMPARTMENTS Subcellular localization image for PAICS gene
Compartment Confidence
cytosol 5
extracellular 5
mitochondrion 2
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
nucleus 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for PAICS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 19946888
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:0009113 purine nucleobase biosynthetic process TAS 2253271
GO:0009168 purine ribonucleoside monophosphate biosynthetic process TAS --
GO:0044281 small molecule metabolic 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Aspartic acid Approved Nutra Target NMDA agonist 0
Adenosine triphosphate Approved Nutra 0

(12) 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
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
124-38-9
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:

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 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, MOPED, and MaxQB for PAICS Gene



SOURCE GeneReport for Unigene cluster for PAICS Gene Hs.518774

genes like me logo Genes that share expression patterns with PAICS: view

Protein tissue co-expression partners for PAICS Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia PAICS 35
  • 91.69 (n)
  • 94.35 (a)
PAICS 36
  • 43 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PAICS 35
  • 93.02 (n)
  • 96.24 (a)
PAICS 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Paics 35
  • 87.76 (n)
  • 94.82 (a)
Paics 16
Paics 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PAICS 35
  • 99.31 (n)
  • 98.84 (a)
PAICS 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Paics 35
  • 88.78 (n)
  • 96 (a)
oppossum
(Monodelphis domestica)
Mammalia PAICS 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PAICS 36
  • 32 (a)
OneToOne
chicken
(Gallus gallus)
Aves PAICS 35
  • 80.49 (n)
  • 85.78 (a)
AIRC 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PAICS 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488155 35
  • 74.75 (n)
  • 81.65 (a)
Str.2996 35
African clawed frog
(Xenopus laevis)
Amphibia paics-prov 35
zebrafish
(Danio rerio)
Actinopterygii paics 35
  • 71.29 (n)
  • 78.12 (a)
paics 36
  • 32 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ade5 37
  • 58 (a)
CG17024 37
  • 42 (a)
ade5 35
  • 56.94 (n)
  • 59.09 (a)
ade5 36
  • 57 (a)
OneToMany
CG40801 36
  • 41 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000180 35
  • 53.91 (n)
  • 57.87 (a)
worm
(Caenorhabditis elegans)
Secernentea B0286.3 37
  • 50 (a)
B0286.3 35
  • 53.78 (n)
  • 50.74 (a)
B0286.3 36
  • 49 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE1 38
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5525 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 47 (a)
OneToOne
Species with no ortholog for PAICS:
  • 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

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

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
rs11549976 - 56,448,739(+) ACCAA(A/C)GAAAT reference, missense
rs6584 -- 56,461,239(+) TGTTA(C/T)GCTCT utr-variant-3-prime
rs1133207 -- 56,460,125(+) ctagt(A/G)attct utr-variant-3-prime
rs1133210 -- 56,460,851(+) CTGTA(A/G)TCCCA utr-variant-3-prime
rs1133212 -- 56,460,892(+) cttga(A/G)cccgg utr-variant-3-prime

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

HapMap Linkage Disequilibrium report
PAICS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) 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 23 67
  2. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  3. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26
  4. Two genes for de novo purine nucleotide synthesis on human chromosome 4 are closely linked and divergently transcribed. (PMID: 8106516) Brayton K.A. … Zalkin H. (J. Biol. Chem. 1994) 2 3
  5. Mapping of a locus correcting lack of phosphoribosylaminoimidazole carboxylase activity in Chinese hamster ovary cell Ade-D mutants to human chromosome 4. (PMID: 2004782) Barton J.W. … Patterson D. (Genomics 1991) 3 23

Products for PAICS Gene

Sources for PAICS Gene

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