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Paics phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoribosylaminoimidazole, succinocarboxamide synthetase [ Mus musculus (house mouse) ]

Gene ID: 67054, updated on 11-Apr-2024

Summary

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Official Symbol
Paicsprovided by MGI
Official Full Name
phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoribosylaminoimidazole, succinocarboxamide synthetaseprovided by MGI
Primary source
MGI:MGI:1914304
See related
Ensembl:ENSMUSG00000029247 AllianceGenome:MGI:1914304
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
AIRC; PAIS; ADE2H1; 2610511I09Rik
Summary
Predicted to enable identical protein binding activity; phosphoribosylaminoimidazole carboxylase activity; and phosphoribosylaminoimidazolesuccinocarboxamide synthase activity. Predicted to be involved in purine ribonucleoside monophosphate biosynthetic process. Predicted to act upstream of or within purine nucleotide biosynthetic process. Predicted to be located in cytoplasm. Predicted to be active in cytosol. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in schizophrenia. Orthologous to human PAICS (phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in CNS E11.5 (RPKM 67.7), placenta adult (RPKM 55.6) and 26 other tissues See more
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Genomic context

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Location:
5 C3.3; 5 41.45 cM
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (77099149..77115356)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (76951302..76967509)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene capping protein inhibiting regulator of actin Neighboring gene STARR-seq mESC enhancer starr_13451 Neighboring gene predicted gene, 52818 Neighboring gene STARR-seq mESC enhancer starr_13452 Neighboring gene aminoadipate-semialdehyde dehydrogenase Neighboring gene phosphoribosyl pyrophosphate amidotransferase Neighboring gene predicted gene, 54291 Neighboring gene RIKEN cDNA 1700112J05 gene Neighboring gene signal recognition particle 72 Neighboring gene ADP-ribosylation factor-like 9 Neighboring gene sperm microtubule associated protein 2 like

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Control of PD-L1 Expression by Oncogenic Activation of the AKT-mTOR Pathway in Non-Small Cell Lung Cancer. Lastwika KJ, et al. Cancer Res, 2016 Jan 15. PMID 26637667
  2. CRISPR-Cas9 induced mutations along de novo purine synthesis in HeLa cells result in accumulation of individual enzyme substrates and affect purinosome formation. Baresova V, et al. Mol Genet Metab, 2016 Nov. PMID 27590927
  3. Insights into developmental mechanisms and cancers in the mammalian intestine derived from serial analysis of gene expression and study of the hepatoma-derived growth factor (HDGF). Lepourcelet M, et al. Development, 2005 Jan. PMID 15604097
  4. A Novel GLP1 Receptor Interacting Protein ATP6ap2 Regulates Insulin Secretion in Pancreatic Beta Cells. Dai FF, et al. J Biol Chem, 2015 Oct 9. PMID 26272612, Free PMC Article
  5. DYRK1a mediates BAFF-induced noncanonical NF-κB activation to promote autoimmunity and B-cell leukemogenesis. Li Y, et al. Blood, 2021 Dec 9. PMID 34255829, Free PMC Article

See all (45) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 5-amino-4-imidazole carboxylate lyase activity IEA
Inferred from Electronic Annotation
more info
  
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables carboxy-lyase activity IEA
Inferred from Electronic Annotation
more info
  
enables catalytic activity IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables ligase activity IEA
Inferred from Electronic Annotation
more info
  
enables lyase activity IEA
Inferred from Electronic Annotation
more info
  
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
  
enables phosphoribosylaminoimidazole carboxylase activity IEA
Inferred from Electronic Annotation
more info
  
enables phosphoribosylaminoimidazole carboxylase activity ISO
Inferred from Sequence Orthology
more info
 PubMed 
enables phosphoribosylaminoimidazolesuccinocarboxamide synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphoribosylaminoimidazolesuccinocarboxamide synthase activity ISO
Inferred from Sequence Orthology
more info
 PubMed 
Process Evidence Code Pubs
involved_in 'de novo' AMP biosynthetic process ISO
Inferred from Sequence Orthology
more info
 PubMed 
involved_in 'de novo' IMP biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in 'de novo' IMP biosynthetic process ISO
Inferred from Sequence Orthology
more info
 PubMed 
involved_in 'de novo' XMP biosynthetic process ISO
Inferred from Sequence Orthology
more info
 PubMed 
involved_in GMP biosynthetic process ISO
Inferred from Sequence Orthology
more info
 PubMed 
acts_upstream_of_or_within metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in purine nucleobase biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within purine nucleotide biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in purine nucleotide biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase
Names
multifunctional protein ADE2
NP_001343900.1
NP_001343901.1
NP_001343902.1
NP_001343903.1
NP_080215.1
XP_006535246.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001356971.1 → NP_001343900.1  bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-4 all encode the same isoform (a).
    Source sequence(s)
    AC114666, AK146722, BP772410
    Consensus CDS
    CCDS19367.1
    UniProtKB/Swiss-Prot
    Q9CQ38, Q9DCL9
    Related
    ENSMUSP00000113483.2, ENSMUST00000120912.8
    Conserved Domains (2) summary
    cd01416
    Location:8 → 258
    SAICAR_synt_Ade5; Ade5_like 5-aminoimidazole-4-(N-succinylcarboxamide) ribonucleotide (SAICAR) synthase
    TIGR01162
    Location:268 → 421
    purE; phosphoribosylaminoimidazole carboxylase, PurE protein

  2. NM_001356972.1 → NP_001343901.1  bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-4 all encode the same isoform (a).
    Source sequence(s)
    AC114666
    Consensus CDS
    CCDS19367.1
    UniProtKB/Swiss-Prot
    Q9CQ38, Q9DCL9
    Related
    ENSMUSP00000112879.2, ENSMUST00000117536.8
    Conserved Domains (2) summary
    cd01416
    Location:8 → 258
    SAICAR_synt_Ade5; Ade5_like 5-aminoimidazole-4-(N-succinylcarboxamide) ribonucleotide (SAICAR) synthase
    TIGR01162
    Location:268 → 421
    purE; phosphoribosylaminoimidazole carboxylase, PurE protein

  3. NM_001356973.1 → NP_001343902.1  bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-4 all encode the same isoform (a).
    Source sequence(s)
    AC114666
    Consensus CDS
    CCDS19367.1
    UniProtKB/Swiss-Prot
    Q9CQ38, Q9DCL9
    Conserved Domains (2) summary
    cd01416
    Location:8 → 258
    SAICAR_synt_Ade5; Ade5_like 5-aminoimidazole-4-(N-succinylcarboxamide) ribonucleotide (SAICAR) synthase
    TIGR01162
    Location:268 → 421
    purE; phosphoribosylaminoimidazole carboxylase, PurE protein

  4. NM_001356974.1 → NP_001343903.1  bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is 1 aa shorter compared to isoform a.
    Source sequence(s)
    AC114666
    Conserved Domains (2) summary
    cd01416
    Location:7 → 257
    SAICAR_synt_Ade5; Ade5_like 5-aminoimidazole-4-(N-succinylcarboxamide) ribonucleotide (SAICAR) synthase
    TIGR01162
    Location:267 → 420
    purE; phosphoribosylaminoimidazole carboxylase, PurE protein

  5. NM_025939.3 → NP_080215.1  bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform a

    See identical proteins and their annotated locations for NP_080215.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1-4 all encode the same isoform (a).
    Source sequence(s)
    AC114666, BC052691, BP772410
    Consensus CDS
    CCDS19367.1
    UniProtKB/Swiss-Prot
    Q9CQ38, Q9DCL9
    Related
    ENSMUSP00000031160.10, ENSMUST00000031160.16
    Conserved Domains (2) summary
    cd01416
    Location:8 → 258
    SAICAR_synt_Ade5; Ade5_like 5-aminoimidazole-4-(N-succinylcarboxamide) ribonucleotide (SAICAR) synthase
    TIGR01162
    Location:268 → 421
    purE; phosphoribosylaminoimidazole carboxylase, PurE protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    77099149..77115356
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006535183.4 → XP_006535246.1  bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform X1

    See identical proteins and their annotated locations for XP_006535246.1

    UniProtKB/Swiss-Prot
    Q9CQ38, Q9DCL9
    Conserved Domains (2) summary
    cd01416
    Location:8 → 258
    SAICAR_synt_Ade5; Ade5_like 5-aminoimidazole-4-(N-succinylcarboxamide) ribonucleotide (SAICAR) synthase
    TIGR01162
    Location:268 → 421
    purE; phosphoribosylaminoimidazole carboxylase, PurE protein
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9DCL9.4 GenPept UniProtKB/Swiss-Prot:Q9DCL9

Gene LinkOut

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