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

Gene ID: 10606, updated on 26-Nov-2021

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
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
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
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Genomic context

See PAICS in Genome Data Viewer
Location:
4q12
Exon count:
16
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (56410507..56464578)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (57301918..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 phosphoribosyl pyrophosphate amidotransferase Neighboring gene signal recognition particle 72 Neighboring gene uncharacterized LOC105377665 Neighboring gene ADP ribosylation factor 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

Homology

Clone Names

  • MGC1343, MGC5024, FLJ42646, DKFZp781N1372

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 
located_in membrane HDA PubMed 

General protein information

Preferred Names
multifunctional protein ADE2
Names
AIR carboxylase
SAICAR synthetase
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_011532668.1

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_001079524.2NP_001072992.1  multifunctional protein ADE2 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
    P22234
    UniProtKB/TrEMBL
    A0A024RD93
    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  multifunctional protein ADE2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AA669362, AC068620, AC114766, BM807012, CR749824
    Consensus CDS
    CCDS47060.1
    UniProtKB/Swiss-Prot
    P22234
    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  multifunctional protein ADE2 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  multifunctional protein ADE2 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  multifunctional protein ADE2 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  multifunctional protein ADE2 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
    P22234
    UniProtKB/TrEMBL
    A0A024RD93
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011534366.1XP_011532668.1  multifunctional protein ADE2 isoform X1

    Conserved Domains (2) summary
    cd01416
    Location:7258
    SAICAR_synt_Ade5; Ade5_like 5-aminoimidazole-4-(N-succinylcarboxamide) ribonucleotide (SAICAR) synthase
    cl00310
    Location:268368
    AIRC; AIR carboxylase
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