Human Gene PAICS (ENST00000512576.3_7) from GENCODE V47lift37

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Description: phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase, transcript variant 6 (from RefSeq NM_001392012.1)
Gencode Transcript: ENST00000512576.3_7
Gencode Gene: ENSG00000128050.9_9
Transcript (Including UTRs)
Position: hg19 chr4:57,302,426-57,330,744 Size: 28,319 Total Exon Count: 9 Strand: +
Coding Region
Position: hg19 chr4:57,302,479-57,325,704 Size: 23,226 Coding Exon Count: 9

Page Index	Sequence and Links	UniProtKB Comments	Primers	CTD	Gene Alleles
RNA-Seq Expression	Microarray Expression	RNA Structure	Protein Structure	Other Species	GO Annotations
mRNA Descriptions	Pathways	Other Names	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr4:57,302,426-57,330,744)			mRNA (may differ from genome)		Protein (425 aa)
Gene Sorter	Genome Browser	Other Species FASTA	Gene interactions	Table Schema	AlphaFold
BioGPS	Ensembl	ExonPrimer	GeneCards	HGNC	MGI
PubMed	Reactome	UniProtKB

Comments and Description Text from UniProtKB


	ID: PUR6_HUMAN DESCRIPTION: RecName: Full=Multifunctional protein ADE2; Includes: RecName: Full=Phosphoribosylaminoimidazole-succinocarboxamide synthase; EC=6.3.2.6; AltName: Full=SAICAR synthetase; Includes: RecName: Full=Phosphoribosylaminoimidazole carboxylase; EC=4.1.1.21; AltName: Full=AIR carboxylase; Short=AIRC; CATALYTIC ACTIVITY: ATP + 5-amino-1-(5-phospho-D- ribosyl)imidazole-4-carboxylate + L-aspartate = ADP + phosphate + (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4- carboxamido)succinate. CATALYTIC ACTIVITY: 5-amino-1-(5-phospho-D-ribosyl)imidazole-4- carboxylate = 5-amino-1-(5-phospho-D-ribosyl)imidazole + CO(2). PATHWAY: Purine metabolism; IMP biosynthesis via de novo pathway; 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide from 5- amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxylate: step 1/2. PATHWAY: Purine metabolism; IMP biosynthesis via de novo pathway; 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxylate from 5- amino-1-(5-phospho-D-ribosyl)imidazole (carboxylase route): step 1/1. SUBUNIT: Homooctamer. INTERACTION: Self; NbExp=3; IntAct=EBI-712261, EBI-712261; P51116:FXR2; NbExp=3; IntAct=EBI-712261, EBI-740459; Q6ZVK8:NUDT18; NbExp=3; IntAct=EBI-712261, EBI-740486; SIMILARITY: In the N-terminal section; belongs to the SAICAR synthetase family. SIMILARITY: In the C-terminal section; belongs to the AIR carboxylase family.

Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
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Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

Comparative Toxicogenomics Database (CTD)


	The following chemicals interact with this gene D013749 Tetrachlorodibenzodioxin D014635 Valproic Acid C006780 bisphenol A C111118 2',3,3',4',5-pentachloro-4-hydroxybiphenyl C029497 2,3-bis(3'-hydroxybenzyl)butyrolactone C016403 2,4-dinitrotoluene C009505 4,4'-diaminodiphenylmethane D000082 Acetaminophen D000638 Amiodarone D000643 Ammonium Chloride more ... click here to view the complete list

Common Gene Haplotype Alleles


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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)


	Highest median expression: 106.86 RPKM in Cells - EBV-transformed lymphocytes Total median expression: 821.20 RPKM View in GTEx track of Genome Browser View at GTEx portal View GTEx Body Map

Microarray Expression Data


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mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-13.40	53	-0.253	Picture	PostScript	Text
3' UTR	-1578.50	5040	-0.313	Picture	PostScript	Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

Protein Domain and Structure Information

InterPro Domains: Graphical view of domain structure
IPR013816 - ATP_grasp_subdomain_2
IPR000031 - N5-CAIR_Mutase_PurE_dom
IPR001636 - SAICAR_synth
IPR018236 - SAICAR_synthetase_CS

Pfam Domains:
PF00731 - AIR carboxylase
PF01259 - SAICAR synthetase

SCOP Domains:
52255 - N5-CAIR mutase (phosphoribosylaminoimidazole carboxylase, PurE)
56104 - SAICAR synthase-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help

2H31 - X-ray MuPIT

ModBase Predicted Comparative 3D Structure on P22234


Front	Top	Side

The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

Orthologous Genes in Other Species

Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	Genome Browser	No ortholog
Gene Details	Gene Details		Gene Details	Gene Details
Gene Sorter	Gene Sorter		Gene Sorter	Gene Sorter
	RGD	Ensembl		WormBase
				Protein Sequence
				Alignment

Gene Ontology (GO) Annotations with Structured Vocabulary


	Molecular Function: GO:0000166 nucleotide binding GO:0003824 catalytic activity GO:0004638 phosphoribosylaminoimidazole carboxylase activity GO:0004639 phosphoribosylaminoimidazolesuccinocarboxamide synthase activity GO:0005515 protein binding GO:0005524 ATP binding GO:0016829 lyase activity GO:0016831 carboxy-lyase activity GO:0016874 ligase activity GO:0042802 identical protein binding GO:0045296 cadherin binding Biological Process: GO:0006164 purine nucleotide biosynthetic process GO:0006189 'de novo' IMP biosynthetic process GO:0008152 metabolic process GO:0009113 purine nucleobase biosynthetic process GO:0009168 purine ribonucleoside monophosphate biosynthetic process Cellular Component: GO:0005737 cytoplasm GO:0005829 cytosol GO:0016020 membrane GO:0070062 extracellular exosome

Descriptions from all associated GenBank mRNAs


	AK294821 - Homo sapiens cDNA FLJ54607 complete cds, highly similar to Multifunctional protein ADE2. BC010273 - Homo sapiens phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase, mRNA (cDNA clone MGC:5024 IMAGE:2900848), complete cds. CR749824 - Homo sapiens mRNA; cDNA DKFZp781N1372 (from clone DKFZp781N1372). BC019255 - Homo sapiens phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase, mRNA (cDNA clone MGC:1343 IMAGE:3533684), complete cds. D28431 - Homo sapiens mRNA for multifunctional protein ADE2H1, 5'UTR region. X53793 - H.sapiens ADE2H1 mRNA showing homologies to SAICAR synthetase and AIR carboxylase of the purine pathway (EC 6.3.2.6, EC 4.1.1.21). CU679667 - Synthetic construct Homo sapiens gateway clone IMAGE:100018258 5' read PAICS mRNA. DQ893776 - Synthetic construct Homo sapiens clone IMAGE:100008236; FLH165427.01L; RZPDo839C03159D phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase (PAICS) gene, encodes complete protein. DQ896305 - Synthetic construct Homo sapiens clone IMAGE:100010765; FLH193124.01L; RZPDo839C0368D phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase (PAICS) gene, encodes complete protein. BT006988 - Homo sapiens phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase mRNA, complete cds. DQ890605 - Synthetic construct clone IMAGE:100003235; FLH165431.01X; RZPDo839C03160D phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase (PAICS) gene, encodes complete protein. DQ893056 - Synthetic construct clone IMAGE:100005686; FLH193128.01X; RZPDo839C0378D phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase (PAICS) gene, encodes complete protein. KJ893090 - Synthetic construct Homo sapiens clone ccsbBroadEn_02484 PAICS gene, encodes complete protein. AK308527 - Homo sapiens cDNA, FLJ98568. JD202499 - Sequence 183523 from Patent EP1572962. AK054760 - Homo sapiens cDNA FLJ30198 fis, clone BRACE2001424. JD303646 - Sequence 284670 from Patent EP1572962. JD333802 - Sequence 314826 from Patent EP1572962. JD093737 - Sequence 74761 from Patent EP1572962. JD510242 - Sequence 491266 from Patent EP1572962. JD358077 - Sequence 339101 from Patent EP1572962. JD528399 - Sequence 509423 from Patent EP1572962. JD415569 - Sequence 396593 from Patent EP1572962. JD252404 - Sequence 233428 from Patent EP1572962. JD541303 - Sequence 522327 from Patent EP1572962. JD109485 - Sequence 90509 from Patent EP1572962. JD348087 - Sequence 329111 from Patent EP1572962. JD511762 - Sequence 492786 from Patent EP1572962. AK001163 - Homo sapiens cDNA FLJ10301 fis, clone NT2RM2000032. JD413557 - Sequence 394581 from Patent EP1572962. JD344587 - Sequence 325611 from Patent EP1572962. JD154841 - Sequence 135865 from Patent EP1572962. JD513903 - Sequence 494927 from Patent EP1572962. JD120530 - Sequence 101554 from Patent EP1572962. JD094090 - Sequence 75114 from Patent EP1572962. JD311666 - Sequence 292690 from Patent EP1572962. JD504827 - Sequence 485851 from Patent EP1572962. JD061050 - Sequence 42074 from Patent EP1572962. JD288418 - Sequence 269442 from Patent EP1572962. JD566680 - Sequence 547704 from Patent EP1572962. JD172394 - Sequence 153418 from Patent EP1572962. JD145563 - Sequence 126587 from Patent EP1572962. JD361763 - Sequence 342787 from Patent EP1572962. JD049887 - Sequence 30911 from Patent EP1572962. JD098812 - Sequence 79836 from Patent EP1572962. JD412661 - Sequence 393685 from Patent EP1572962. JD164385 - Sequence 145409 from Patent EP1572962. JD256982 - Sequence 238006 from Patent EP1572962. JD198947 - Sequence 179971 from Patent EP1572962. JD154949 - Sequence 135973 from Patent EP1572962. JD383708 - Sequence 364732 from Patent EP1572962. JD354002 - Sequence 335026 from Patent EP1572962. JD269540 - Sequence 250564 from Patent EP1572962. JD148735 - Sequence 129759 from Patent EP1572962. JD250935 - Sequence 231959 from Patent EP1572962. JD250936 - Sequence 231960 from Patent EP1572962. JD095387 - Sequence 76411 from Patent EP1572962. JD307213 - Sequence 288237 from Patent EP1572962. JD399408 - Sequence 380432 from Patent EP1572962. JD552579 - Sequence 533603 from Patent EP1572962. JD277900 - Sequence 258924 from Patent EP1572962. JD475784 - Sequence 456808 from Patent EP1572962. JD112031 - Sequence 93055 from Patent EP1572962. JD112030 - Sequence 93054 from Patent EP1572962. JD089235 - Sequence 70259 from Patent EP1572962. JD089236 - Sequence 70260 from Patent EP1572962. JD496972 - Sequence 477996 from Patent EP1572962. JD274743 - Sequence 255767 from Patent EP1572962. JD274744 - Sequence 255768 from Patent EP1572962.

Biochemical and Signaling Pathways


	BioCyc Knowledge Library PWY-6124 - inosine-5'-phosphate biosynthesis PWY-841 - purine nucleotides de novo biosynthesis Reactome (by CSHL, EBI, and GO) Protein P22234 (Reactome details) participates in the following event(s): R-HSA-73805 CAIR + Aspartate + ATP => SAICAR + ADP + Pi R-HSA-73806 AIR + CO2 => CAIR R-HSA-73817 Purine ribonucleoside monophosphate biosynthesis R-HSA-8956320 Nucleobase biosynthesis R-HSA-15869 Metabolism of nucleotides R-HSA-1430728 Metabolism

Other Names for This Gene


	Alternate Gene Symbols: ADE2 , AIRC, E9PDH9, ENST00000512576.1, ENST00000512576.2, NM_001392012, P22234, PAICS , PAIS, PUR6_HUMAN, Q68CQ5, uc323jcc.1, uc323jcc.2 UCSC ID: ENST00000512576.3_7 RefSeq Accession: NM_001079524.2 Protein: P22234 (aka PUR6_HUMAN)

Gene Model Information


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Methods, Credits, and Use Restrictions


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