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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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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