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

Gene ID: 10606, updated on 4-Nov-2018

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; Vega:OTTHUMG00000160957
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

Genomic context

See PAICS in Genome Data Viewer
Location:
4q12
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (56435749..56461368)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (57276682..57327534)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene aminoadipate-semialdehyde dehydrogenase Neighboring gene ribosomal protein L7a pseudogene 31 Neighboring gene uncharacterized LOC100506514 Neighboring gene phosphoribosyl pyrophosphate amidotransferase Neighboring gene uncharacterized LOC107986282 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat'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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC1343, MGC5024, DKFZp781N1372

Gene Ontology Provided by GOA

Function Evidence Code Pubs
5-amino-4-imidazole carboxylate lyase activity IEA
Inferred from Electronic Annotation
more info
 
ATP binding IEA
Inferred from Electronic Annotation
more info
 
cadherin binding HDA PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
phosphoribosylaminoimidazole carboxylase activity TAS
Traceable Author Statement
more info
 
phosphoribosylaminoimidazolesuccinocarboxamide synthase activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
'de novo' IMP biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
purine nucleobase biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
purine ribonucleoside monophosphate biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
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_006443.1
XP_011532668.1

NCBI Reference Sequences (RefSeq)

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_001079524.1NP_001072992.1  multifunctional protein ADE2 isoform 2

    See identical proteins and their annotated locations for NP_001072992.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the CDS, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1. Variants 2 and 3 encode the same isoform.
    Source sequence(s)
    AA669362, AC114766, BC019255, CF994644, DB503040
    Consensus CDS
    CCDS47061.1
    UniProtKB/Swiss-Prot
    P22234
    UniProtKB/TrEMBL
    A0A024RD93
    Related
    ENSP00000421096.1, OTTHUMP00000219414, ENST00000512576.2, OTTHUMT00000363136
    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_001079525.1NP_001072993.1  multifunctional protein ADE2 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents one of the longest transcripts and encodes the longer isoform (1).
    Source sequence(s)
    AA669362, AC068620, AC114766, BM807012, CF994644, CR749824, DB503040
    Consensus CDS
    CCDS47060.1
    UniProtKB/Swiss-Prot
    P22234
    Related
    ENSP00000382595.3, OTTHUMP00000219413, ENST00000399688.7, OTTHUMT00000363133
    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_006452.3NP_006443.1  multifunctional protein ADE2 isoform 2

    See identical proteins and their annotated locations for NP_006443.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon in the CDS, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1. Variants 2 and 3 encode the same isoform.
    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 Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    56435749..56461368
    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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