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PPAT Gene

protein-coding GIFtS: 65
GCID: GC04M057259

Phosphoribosyl Pyrophosphate Amidotransferase

See PPAT-related diseases
at

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Phosphoribosyl Pyrophosphate Amidotransferase¹ ²		PRAT²
GPAT² ³ ⁵		amidophosphoribosyltransferase²
Glutamine Phosphoribosylpyrophosphate Amidotransferase² ³		Glutamine Phosphoribosylpyrophosphatate Amidotransferase²
EC 2.4.2.14³ ⁸		Glutamine PRPP Amidotransferase²
ATASE²		ATase³

External Ids:	HGNC: 9238¹	Entrez Gene: 5471²	Ensembl: ENSG00000128059⁷	OMIM: 172450⁵	UniProtKB: Q06203³

Export aliases for PPAT gene to outside databases

Previous GC identifers: GC04M057063 GC04M057221 GC04M057109 GC04M057175 GC04M057100 GC04M056954 GC04M053213

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PPAT Gene:

The protein encoded by this gene is a member of the purine/pyrimidine phosphoribosyltransferase family. It is a

regulatory allosteric enzyme that catalyzes the first step of de novo purine nucleotide biosythetic pathway. This

gene and PAICS/AIRC gene, a bifunctional enzyme catalyzing steps six and seven of this pathway, are located in

close proximity on chromosome 4, and divergently transcribed from an intergenic region. (provided by RefSeq, Mar

2011)

GeneCards Summary for PPAT Gene:

PPAT (phosphoribosyl pyrophosphate amidotransferase) is a protein-coding gene. Diseases associated with PPAT include phosphoribosylpyrophosphate synthetase superactivity, and lesch-nyhan syndrome. GO annotations related to this gene include 4 iron, 4 sulfur cluster binding and amidophosphoribosyltransferase activity.

Gene Wiki entry for PPAT (Amidophosphoribosyltransferase) Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000004.11 NC_018915.2 NT_022853.16

Regulatory elements:

Regulatory transcription factor binding sites in the PPAT gene promoter:
TBP p53 AML1a ATF-2 MyoD AREB6 CP2 STAT3 IRF-7A RSRFC4
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PPAT promoter sequence

Search Chromatin IP Primers for PPAT

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PPAT

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q12 Ensembl cytogenetic band: 4q12 HGNC cytogenetic band: 4q12

PPAT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PPAT gene location

GeneLoc information about chromosome 4 GeneLoc Exon Structure

GeneLoc location for GC04M057259: view genomic region (about GC identifiers)

Start:	57,259,528 bp from pter	End:	57,301,802 bp from pter
Size:	42,275 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PUR1_HUMAN, Q06203 (See protein sequence)

Recommended Name: Amidophosphoribosyltransferase precursor

Size: 517 amino acids; 57399 Da

Cofactor: Binds 1 magnesium ion per subunit (By similarity)

Cofactor: Binds 1 4Fe-4S cluster per subunit (By similarity)

Subunit: Homotetramer

Explore the universe of human proteins at neXtProt for PPAT: NX_Q06203

Explore proteomics data for PPAT at MOPED

Post-translational modifications:

Ubiquitination² at Lys99, Lys349, Lys372

Modification sites at PhosphoSitePlus

Selected DME Specific Peptides for PPAT (Q06203) (see all 9)

EECGVFG

YFARPDS

LQHRGQE

YVGRTFI

See PPAT Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_002694.3

ENSEMBL proteins:

ENSP00000264220 ENSP00000423781 ENSP00000425119

Reactome Protein details: Q06203

PPAT Human Recombinant Protein Products:

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	antibodies-online peptides for PPAT

PPAT Antibody Products:

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PPAT Assay Products:

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	antibodies-online kits for PPAT (6 products)

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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4 InterPro protein domains:

IPR000583 GATase_dom

IPR017932 GATase_2_dom

IPR005854 Amd_phspho_trans

IPR000836 PRibTrfase_dom

Graphical View of Domain Structure for InterPro Entry Q06203

ProtoNet protein and cluster: Q06203

1 Blocks protein domain: IPB002375 Purine/pyrimidine phosphoribosyl transferase

UniProtKB/Swiss-Prot: PUR1_HUMAN, Q06203

Similarity: In the C-terminal section; belongs to the purine/pyrimidine phosphoribosyltransferase family

Similarity: Contains 1 glutamine amidotransferase type-2 domain

Find genes that share domains with PPAT About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: PUR1_HUMAN, Q06203

Catalytic activity: 5-phospho-beta-D-ribosylamine + diphosphate + L-glutamate = L-glutamine +

5-phospho-alpha-D-ribose 1-diphosphate + H(2)O

Genatlas biochemistry entry for PPAT:

phosphoribosyl pyrophosphate amidotransferase,catalyzing the first step of the de novo purine biosynthesis

Enzyme Number (IUBMB): EC 2.4.2.14¹ ²

Gene Ontology (GO): 3 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004044	amidophosphoribosyltransferase activity	IEA	--
GO:0046872	metal ion binding	IEA	--
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	--

Find genes that share ontologies with PPAT About GenesLikeMe

Phenotypes:
1 GenomeRNAi human phenotype for PPAT:

Increased S DNA content

1 MGI phenotypic allele

for Ppat (no phenotypes)

Find genes that share phenotypes with PPAT About GenesLikeMe

Animal Models:

genOway: Develop your customized and physiologically relevant rodent model for PPAT

miRNA Products:		miRTarBase miRNAs that target PPAT: hsa-mir-425-5p (MIRT039332), hsa-mir-125b-5p (MIRT005010), hsa-mir-215-5p (MIRT024474), hsa-mir-26b-5p (MIRT030142), hsa-mir-98-5p (MIRT027826), hsa-mir-192-5p (MIRT026845)

		Block miRNA regulation of human, mouse, rat PPAT using miScript Target Protectors
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PPAT

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytosol	4
cytoskeleton	2
mitochondrion	2
nucleus	1

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Gene Ontology (GO): 1 cellular component term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	TAS	--

Find genes that share ontologies with PPAT About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for PPAT About (see all 8)

See pathways by source

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SuperPath

Contained pathways About

Purine metabolism (REACTOME)

	Purine metabolism	0.42			Purine ribonucleoside monophosphate biosynthesis	0.00
	Metabolism of nucleotides	0.42			5-aminoimidazole ribonucleotide biosynthesis	0.00

Pyrimidine metabolism

Fluoropyrimidine Activity

0.69

Fluoropyrimidine Pathway, Pharmacokinetics

0.69

Metabolism

Metabolism

0.38

Metabolic pathways

0.38

One carbon pool by folate

	Methotrexate Pathway (Cancer Cell), Pharmacodynamics	0.35			Antimetabolite Pathway - Folate Cycle, Pharmacodynamics	0.00
	Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics	0.34

purine nucleotide salvage

purine nucleotides de novo biosynthesis

0.78

Find genes that share SuperPaths with PPAT About GenesLikeMe

Pathways by source See SuperPaths
Show all pathways

1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for PPAT

AMPK Enzyme Complex Pathway

3 BioSystems Pathways for PPAT

	Fluoropyrimidine Activity
	purine nucleotides de novo biosynthesis
	5-aminoimidazole ribonucleotide biosynthesis

1 Reactome Pathway for PPAT

Purine ribonucleoside monophosphate biosynthesis

4 PharmGKB Pathways for PPAT

	Antimetabolite Pathway - Folate Cycle, Pharmacodynamics
	Fluoropyrimidine Pathway, Pharmacokinetics
	Methotrexate Pathway (Cancer Cell), Pharmacodynamics
	Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics

3 Kegg Pathways (Kegg details for PPAT):

	Purine metabolism
	Alanine, aspartate and glutamate metabolism
	Metabolic pathways

UniProtKB/Swiss-Prot: PUR1_HUMAN, Q06203

Pathway: Purine metabolism; IMP biosynthesis via de novo pathway; N(1)-(5-phospho-D-ribosyl)glycinamide from

5-phospho-alpha-D-ribose 1-diphosphate: step 1/2

Pathway & Disease-focused RT² Profiler PCR Array including PPAT:

Amino Acid Metabolism I in human mouse rat

Interactions:

Search GeneGlobe Interaction Network for PPAT

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for PPAT (Q06203³ ENSP00000264220⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 114)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST1H4A	P62805³	I2D: score=1
HIST1H4B	P62805³	I2D: score=1
HIST1H4C	P62805³	I2D: score=1
HIST1H4D	P62805³	I2D: score=1
HIST1H4E	P62805³	I2D: score=1

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Gene Ontology (GO): Selected biological process terms (see all 20): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000082	G1/S transition of mitotic cell cycle	IEA	--
GO:0001822	kidney development	IEA	--
GO:0006144	purine nucleobase metabolic process	TAS	--
GO:0006164	purine nucleotide biosynthetic process	TAS	8106516
GO:0006189	'de novo' IMP biosynthetic process	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for PPAT (PUR1)

9 HMDB Compounds for PPAT About this table

Compound	Synonyms	CAS #	PubMed Ids
5-Phosphoribosylamine	5-P-beta-D-ribosyl-amine (see all 10)	--	--
Famotidine	Amfamox (see all 83)	76824-35-6	--
L-Glutamic acid	(2S)-2-Aminopentanedioate (see all 49)	56-86-0	--
L-Glutamine	(2S)-2,5-diamino-5-oxopentanoic acid (see all 31)	56-85-9	--
Magnesium	Magnesium (see all 2)	7439-95-4	--
Phosphoribosyl pyrophosphate	5-Phospho-a-D-ribose-1-diphosphate (see all 37)	7540-64-9	--
Phosphoric acid	acide phosphorique (FRENCH) (see all 20)	7664-38-2	--
Pyrophosphate	(4-)Diphosphoric acid ion (see all 10)	14000-31-8	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

2 DrugBank Compounds for PPAT About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
L-Glutamine	(S)-2,5-diamino-5-oxopentanoic acid (see all 4)	56-85-9	target	product of	17355124 17355125
Fluorouracil	5-Fluorouracil (see all 6)	51-21-8	enzyme	substrate	--

Selected Novoseek inferred chemical compound relationships for PPAT gene (see all 32) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hatpa	92.8	2	10557052 (1), 9725988 (1)
phosphoribosylamine	91.5	3	7532005 (2)
o6-benzylguanine	90.8	42	8129725 (3), 8512814 (3), 9815932 (2), 8908500 (2) (see all 16)
cb 10277	89.9	5	1464162 (3), 8033139 (2)
mitozolomide	87.2	8	1312399 (3), 1419626 (2), 8512814 (1)
prpp	85.5	12	11290738 (2), 8314584 (1), 1311306 (1), 15566465 (1) (see all 8)
fotemustine	85	14	1824685 (3), 9516937 (2), 8512821 (1), 8431354 (1) (see all 7)
o(6)-methyldeoxyguanosine	85	14	11448648 (2), 8180013 (2), 8033139 (2)
chloroethyl nitrosoureas	81.3	8	8761416 (2), 9815932 (2)
temozolomide	74.6	21	10647496 (4), 8512814 (3), 8123472 (3), 7828668 (3) (see all 8)

Find genes that share compounds with PPAT About GenesLikeMe

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for PPAT gene:

NM_002703.4

Unigene Cluster for PPAT:

Phosphoribosyl pyrophosphate amidotransferase

Hs.331420 [show with all ESTs]

Unigene Representative Sequence: AB209246

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000264220(uc003hbr.3) ENST00000425339 ENST00000507648 ENST00000510643

ENST00000507724

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		hsa-miR-299-5p hsa-miR-125a-5p hsa-miR-600 hsa-miR-627 hsa-miR-570 hsa-miR-659 hsa-miR-9 hsa-miR-1276

		SwitchGear 3'UTR luciferase reporter plasmid: PPAT 3' UTR sequence

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		QuantiFast Probe-based Assays in human, mouse, rat PPAT

Additional mRNA sequence:

AB209246.1 AK222759.1 AK290942.1 AK312297.1 BC004200.2 D13757.1 U00238.1

11 DOTS entries:

DT.95340067 DT.95268423 DT.453889 DT.40281814 DT.121644170 DT.121267351 DT.121267393 DT.100818463

DT.100885672 DT.121267343 DT.97815824

Selected AceView cDNA sequences (see all 196):

AL527871 BC004200 CR592110 F07938 AW008472 BF476510 AU142764 AA829629

AU103390 BU181806 CD657552 N28807 D13757 BU165960 BX282402 NM_002703

CB044540 CR599321 BQ000651 CA421287 CR596411 AI146356 AA826427 BQ229606

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for PPAT (see all 7) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2	^	3	^	4a	·	4b	^	5	^	6	^	7	^	8	^	9a	·	9b	^	10	^	11	^	12a	·	12b	^	13	^	14a	·	14b
SP1:									-						-		-		-						-								-
SP2:									-						-		-		-
SP3:															-		-		-
SP4:									-						-				-
SP5:									-						-		-

ECgene alternative splicing isoforms for PPAT

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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PPAT expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GCCTTTTACT

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PPAT expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 2) fully expand


Neural Tube (Nervous System)
Telencephalon

Brain (Nervous System)
Cerebral Cortex

PPAT Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

PPAT Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.331420

UniProtKB/Swiss-Prot: PUR1_HUMAN, Q06203

Tissue specificity: Ubiquitously expressed

Pathway & Disease-focused RT² Profiler PCR Array including PPAT:

Amino Acid Metabolism I in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PPAT

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for PPAT gene from Selected species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ppat^{1 , 5}	phosphoribosyl pyrophosphate amidotransferase^{1, 5}	85.94(n)¹ 93.04(a)¹		5 (41.45 cM)⁵ 231327¹ NM_172146.2¹ NP_742158.1¹ 76913249⁵
chicken (Gallus gallus)	Aves	PPAT¹	phosphoribosyl pyrophosphate amidotransferase	78.06(n) 84.39(a)		422743 NM_001004401.1 NP_001004401.1
lizard (Anolis carolinensis)	Reptilia	PPAT⁶	phosphoribosyl pyrophosphate amidotransferase	82(a)	1 ↔ 1	5(105341137-105357016)
African clawed frog (Xenopus laevis)	Amphibia	MGC68694²	hypothetical protein MGC68694	76.06(n)		BC060430.1
zebrafish (Danio rerio)	Actinopterygii	ppat¹	phosphoribosyl pyrophosphate amidotransferase	68.96(n) 74.61(a)		572027 NM_001082877.2 NP_001076346.2
fruit fly (Drosophila melanogaster)	Insecta	Prat³ Prat2¹	'de novo' IMP biosynthesis amidophosphoribosyltransferase less³ Phosphoribosylamidotransferase 2¹	60(a) (best of 2)³ 60.01(n)¹ 65.43(a)¹		84E5³ 38753¹ NM_079225.3¹ NP_523949.2¹
worm (Caenorhabditis elegans)	Secernentea	T04A8.5³ CELE_T04A8.5¹	Amidophosphoribosyltransferase³ CELE_T04A8.5¹	46(a)³ 56.07(n)¹ 50.21(a)¹		III(4761135-4763868)³ 175613¹ NM_065557.6¹ NP_497958.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	ADE4(YMR300C)⁴	Phosphoribosylpyrophosphate amidotransferase (PRPPAT; amidophosphoribosyltransferase), catalyzes first step of the 'de novo' purine nucleotide biosynthetic pathway less	--		13(867091-865559) 855346 NP_014029.1
thale cress (Arabidopsis thaliana)	eudicotyledons	ASE1¹	ASE1	51.23(n) 44.3(a)		816156 NM_127208.1 NP_179247.1

ENSEMBL Gene Tree for PPAT (if available)
TreeFam Gene Tree for PPAT (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for PPAT gene

Find genes that share paralogs with PPAT About GenesLikeMe

2 Pseudogenes.org Pseudogenes for PPAT
PGOHUM00000237672 PGOHUM00000241410

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 4 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs200481094^1,2	C	--	53253105(+)	`AAAAA-/AT/T CAAGA`	1	--	int¹		0	--	--	--	--
rs185268864^1,2		--	57259093(+)	`TTTCAA/CTTAGT`	1	--	ds500¹		0	--	--	--	--
rs190148506^1,2		--	57259198(+)	`TTTATC/GTATTC`	1	--	ds500¹		0	--	--	--	--
rs145883075^1,2		--	57259229(+)	`ACTTTA/GAATCT`	1	--	ds500¹		0	--	--	--	--
rs78024442^1,2	C,F	--	57259261(+)	`TCCCTC/TTTTCC`	1	--	ds500¹		1		WA	118
rs148974030^1,2	C	--	57259293(+)	`TGCCAC/TGATGT`	1	--	ds500¹		0	--	--	--	--
rs1060472^1,2	C,F,H	--	57259465(+)	`CCATGC/ATGTTT`	1	--	ds500¹		32		NA NS EA WA	3332
rs143765938^1,2	C	--	57259492(+)	`TAAAGC/TCACTA`	1	--	ds500¹		0	--	--	--	--
rs34519551^1,2	C	--	57259501(+)	`TATTT-/A/AA AAAAA`	1	--	ds500¹		0	--	--	--	--
rs3796548^1,2	C,F,A,H	--	57259856(+)	`GAAAAC/TGCAAA`	1	--	ut3¹ ese³		15		NS EA NA WA	1976

HapMap Linkage Disequilibrium report for PPAT (57259528 - 57301802 bp)

Structural Variations
Database of Genomic Variants (DGV) 2 variations for PPAT: About this table

Variant ID	Type	Subtype	PubMed ID
nsv4347	CNV	Loss	18451855
nsv829940	CNV	Gain	17160897

Human Gene Mutation Database (HGMD): PPAT

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing PPAT

DNA2.0 Custom Variant and Variant Library Synthesis for PPAT

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 172450 OMIM disorders: --

3 diseases for PPAT:
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phosphoribosylpyrophosphate synthetase superactivity lesch-nyhan syndrome malignant glioma

1 inferred disease relationship from the University of Copenhagen DISEASES database for PPAT:

Lesch-Nyhan syndrome

Find genes that share disorders with PPAT About GenesLikeMe

Selected Novoseek inferred disease relationships for PPAT gene (see all 15) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
metastatic melanoma	31.8	1	8033139 (1)
melanoma	26.5	6	1464162 (2), 10647496 (2), 15867241 (1), 1824685 (1)
glioma	24.6	8	9052400 (2), 8625471 (2)
malignant glioma	18.7	1	11508814 (1)
hodgkin disease	3.08	2	8343274 (1)
brain tumors	0.483	1	9516937 (1)
leukemia	0	1	7773147 (1)
cancer lung	0	4	10428203 (2), 7960235 (1)
breast cancer	0	2	9209662 (2)
hepatocellular carcinoma	0	1	8903364 (1)

Export disorders for PPAT gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for PPAT gene, integrated from 10 sources (see all 127):
(articles sorted by number of sources associating them with PPAT)

Utopia: connect your pdf to the dynamic
world of online information

Molecular cloning of human amidophosphoribosyltransferase. (PubMed id 8380692)^{1, 2, 9} Iwahana H.... Itakura M. (Biochem. Biophys. Res. Commun. 1993)
Two genes for de novo purine nucleotide synthesis on human chromosome 4 are closely linked and divergently transcribed. (PubMed id 8106516)^{1, 2, 9} Brayton K.A.... Zalkin H. (J. Biol. Chem. 1994)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
Role of NRF-1 in bidirectional transcription of the human GPAT-AIRC purine biosynthesis locus. (PubMed id 9108165)^{1, 9} Chen S....Zalkin H. (Nucleic Acids Res. 1997)
Interdomain signaling in glutamine phosphoribosylpyrophosphate amidotransferase. (PubMed id 10593947)^{1, 9} Bera A.K....Zalkin H. (J. Biol. Chem. 1999)
Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)¹ Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
Development and application of a DNA microarray-based yeast two-hybrid system. (PubMed id 23275563)¹ Suter B....Wanker E.E. (Nucleic Acids Res. 2013)
Deubiquitinase FAM/USP9X interacts with the E3 ubiquitin ligase SMURF1 protein and protects it from ligase activity-dependent self-degradation. (PubMed id 23184937)¹ Xie Y....Cong F. (J. Biol. Chem. 2013)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (Cell 2012)
A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)¹ Kristensen A.R....Foster L.J. (Nat. Methods 2012)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 5471	HGNC: 9238	AceView: PPAT	Ensembl:ENSG00000128059	euGenes: HUgn5471
ECgene: PPAT	Kegg: 5471	H-InvDB: PPAT

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for PPAT	Pharmacogenomics, SNPs, Pathways

Intellectual Property for PPAT gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for PPAT gene:
Search GeneIP for patents involving PPAT

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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Phosphoribosyl Pyrophosphate Amidotransferase

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