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    PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase [ Homo sapiens (human) ]

    Gene ID: 10606, updated on 3-Dec-2024

    Summary

    Official Symbol
    PAICSprovided by HGNC
    Official Full Name
    phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthaseprovided by HGNC
    Primary source
    HGNC:HGNC:8587
    See related
    Ensembl:ENSG00000128050 MIM:172439; AllianceGenome:HGNC:8587
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ADE2; AIRC; PAIS; ADE2H1; PAICSD
    Summary
    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]
    Expression
    Ubiquitous expression in placenta (RPKM 25.9), appendix (RPKM 25.5) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See PAICS in Genome Data Viewer
    Location:
    4q12
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (56410507..56464578)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (59898501..59952584)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (57276673..57330744)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 162 Neighboring gene aminoadipate-semialdehyde dehydrogenase Neighboring gene ribosomal protein L7a pseudogene 31 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:57253075-57253582 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:57253583-57254089 Neighboring gene phosphoribosyl pyrophosphate amidotransferase Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:57291569-57292254 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15449 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21579 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15450 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:57302513-57303396 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:57325164-57326363 Neighboring gene uncharacterized LOC124900706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21580 Neighboring gene signal recognition particle 72 Neighboring gene uncharacterized LOC105377665 Neighboring gene ARF like GTPase 9

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat 47-59 peptide upregulates gene expression of phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase (PAICS) in U-937 macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC1343, MGC5024, FLJ42646, DKFZp781N1372

    Gene Ontology Provided by GOA

    General protein information

    Preferred Names
    bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase
    Names
    AIR carboxylase
    SAICAR synthetase
    multifunctional protein ADE2
    multifunctional protein ADE2H1
    phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase
    phosphoribosylaminoimidazole carboxylase; phosphoribosylaminoimidazolesuccinocarboxamide synthase
    NP_001072992.1
    NP_001072993.1
    NP_001378939.1
    NP_001378940.1
    NP_001378941.1
    NP_006443.1
    XP_047305483.1
    XP_047305484.1
    XP_047305485.1
    XP_047305486.1
    XP_054204749.1
    XP_054204750.1
    XP_054204751.1
    XP_054204752.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001079524.2NP_001072992.1  bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform 2

      See identical proteins and their annotated locations for NP_001072992.1

      Status: REVIEWED

      Source sequence(s)
      AA669362, AC114766, BC019255
      Consensus CDS
      CCDS47061.1
      UniProtKB/Swiss-Prot
      E9PDH9, P22234, Q68CQ5
      UniProtKB/TrEMBL
      E9PBS1
      Related
      ENSP00000421096.1, ENST00000512576.3
      Conserved Domains (2) summary
      cd01416
      Location:7258
      SAICAR_synt_Ade5; Ade5_like 5-aminoimidazole-4-(N-succinylcarboxamide) ribonucleotide (SAICAR) synthase
      TIGR01162
      Location:268421
      purE; phosphoribosylaminoimidazole carboxylase, PurE protein
    2. NM_001079525.2NP_001072993.1  bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform 1

      Status: REVIEWED

      Source sequence(s)
      AA669362, AC068620, AC114766, BM807012, CR749824
      Consensus CDS
      CCDS47060.1
      UniProtKB/TrEMBL
      E9PBS1
      Related
      ENSP00000382595.3, ENST00000399688.7
      Conserved Domains (2) summary
      cd01416
      Location:7265
      SAICAR_synt_Ade5; Ade5_like 5-aminoimidazole-4-(N-succinylcarboxamide) ribonucleotide (SAICAR) synthase
      TIGR01162
      Location:275428
      purE; phosphoribosylaminoimidazole carboxylase, PurE protein
    3. NM_001392010.1NP_001378939.1  bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC068620, AC114766
      Conserved Domains (3) summary
      cd01416
      Location:389647
      SAICAR_synt_Ade5; Ade5_like 5-aminoimidazole-4-(N-succinylcarboxamide) ribonucleotide (SAICAR) synthase
      TIGR01162
      Location:657810
      purE; phosphoribosylaminoimidazole carboxylase, PurE protein
      pfam13837
      Location:151235
      Myb_DNA-bind_4; Myb/SANT-like DNA-binding domain
    4. NM_001392011.1NP_001378940.1  bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC068620, AC114766
      Conserved Domains (3) summary
      cd01416
      Location:361619
      SAICAR_synt_Ade5; Ade5_like 5-aminoimidazole-4-(N-succinylcarboxamide) ribonucleotide (SAICAR) synthase
      TIGR01162
      Location:629782
      purE; phosphoribosylaminoimidazole carboxylase, PurE protein
      pfam13837
      Location:151235
      Myb_DNA-bind_4; Myb/SANT-like DNA-binding domain
    5. NM_001392012.1NP_001378941.1  bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC068620, AC114766
      Conserved Domains (3) summary
      cd01416
      Location:216467
      SAICAR_synt_Ade5; Ade5_like 5-aminoimidazole-4-(N-succinylcarboxamide) ribonucleotide (SAICAR) synthase
      TIGR01162
      Location:477630
      purE; phosphoribosylaminoimidazole carboxylase, PurE protein
      pfam13837
      Location:691
      Myb_DNA-bind_4; Myb/SANT-like DNA-binding domain
    6. NM_006452.4NP_006443.1  bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform 2

      See identical proteins and their annotated locations for NP_006443.1

      Status: REVIEWED

      Source sequence(s)
      AA669362, AC114766, BC010273, CN337183
      Consensus CDS
      CCDS47061.1
      UniProtKB/Swiss-Prot
      E9PDH9, P22234, Q68CQ5
      UniProtKB/TrEMBL
      E9PBS1
      Related
      ENSP00000264221.2, ENST00000264221.6
      Conserved Domains (2) summary
      cd01416
      Location:7258
      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_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      56410507..56464578
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047449527.1XP_047305483.1  bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform X1

    2. XM_047449528.1XP_047305484.1  bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform X2

    3. XM_047449530.1XP_047305486.1  bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform X4

      UniProtKB/TrEMBL
      E9PBS1
    4. XM_047449529.1XP_047305485.1  bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform X3

      UniProtKB/Swiss-Prot
      E9PDH9, P22234, Q68CQ5
      UniProtKB/TrEMBL
      E9PBS1
      Related
      ENSP00000424053.1, ENST00000505164.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      59898501..59952584
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348774.1XP_054204749.1  bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform X1

    2. XM_054348775.1XP_054204750.1  bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform X2

    3. XM_054348777.1XP_054204752.1  bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform X4

      UniProtKB/TrEMBL
      E9PBS1
    4. XM_054348776.1XP_054204751.1  bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform X3

      UniProtKB/Swiss-Prot
      E9PDH9, P22234, Q68CQ5
      UniProtKB/TrEMBL
      E9PBS1