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

    Gene ID: 67054, updated on 2-Nov-2024

    Summary

    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 nucleobase biosynthetic process and purine ribonucleoside monophosphate biosynthetic process. Predicted to be located in cytoplasm. 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, Nov 2024]
    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

    See Paics in Genome Data Viewer
    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

    Expression

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

    Variation

    Alleles

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphoribosylaminoimidazole carboxylase activity ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    enables phosphoribosylaminoimidazole carboxylase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 
    enables phosphoribosylaminoimidazolesuccinocarboxamide synthase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 IEA
    Inferred from Electronic Annotation
    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 
    involved_in purine nucleobase biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in purine nucleobase biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    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_001356971.1NP_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:8258
      SAICAR_synt_Ade5; Ade5_like 5-aminoimidazole-4-(N-succinylcarboxamide) ribonucleotide (SAICAR) synthase
      TIGR01162
      Location:268421
      purE; phosphoribosylaminoimidazole carboxylase, PurE protein
    2. NM_001356972.1NP_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:8258
      SAICAR_synt_Ade5; Ade5_like 5-aminoimidazole-4-(N-succinylcarboxamide) ribonucleotide (SAICAR) synthase
      TIGR01162
      Location:268421
      purE; phosphoribosylaminoimidazole carboxylase, PurE protein
    3. NM_001356973.1NP_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:8258
      SAICAR_synt_Ade5; Ade5_like 5-aminoimidazole-4-(N-succinylcarboxamide) ribonucleotide (SAICAR) synthase
      TIGR01162
      Location:268421
      purE; phosphoribosylaminoimidazole carboxylase, PurE protein
    4. NM_001356974.1NP_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:7257
      SAICAR_synt_Ade5; Ade5_like 5-aminoimidazole-4-(N-succinylcarboxamide) ribonucleotide (SAICAR) synthase
      TIGR01162
      Location:267420
      purE; phosphoribosylaminoimidazole carboxylase, PurE protein
    5. NM_025939.3NP_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:8258
      SAICAR_synt_Ade5; Ade5_like 5-aminoimidazole-4-(N-succinylcarboxamide) ribonucleotide (SAICAR) synthase
      TIGR01162
      Location:268421
      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_006535183.4XP_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:8258
      SAICAR_synt_Ade5; Ade5_like 5-aminoimidazole-4-(N-succinylcarboxamide) ribonucleotide (SAICAR) synthase
      TIGR01162
      Location:268421
      purE; phosphoribosylaminoimidazole carboxylase, PurE protein