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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

HPRT1 Gene

protein-coding GIFtS: 69
GCID: GC0XP133594

hypoxanthine phosphoribosyltransferase 1

(Previous symbol: HPRT)

Explore 107 diseases affiliated with
HPRT1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Hypoxanthine Phosphoribosyltransferase 1¹ ²
HPRT¹ ² ³ ⁵
HGPRT¹ ² ³
HGPRTase² ³
EC 2.4.2.8³ ⁸
Hypoxanthine-Guanine Phosphoribosyltransferase²

External Ids:	HGNC: 5157¹	Entrez Gene: 3251²	Ensembl: ENSG00000165704⁷	OMIM: 308000⁵	UniProtKB: P00492³

Export aliases for HPRT1 gene to outside databases

Previous GC identifers: GC0XP128239 GC0XP130440 GC0XP131539 GC0XP132299 GC0XP133319 GC0XP133421 GC0XP122992

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HPRT1:

The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate

and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl

1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage

pathway. Mutations in this gene result in Lesch-Nyhan syndrome or gout.(provided by RefSeq, Jun 2009)

UniProtKB/Swiss-Prot: HPRT_HUMAN, P00492

Function: Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the

5-phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of

purine nucleotides through the purine salvage pathway

Gene Wiki entry for HPRT1 (Hypoxanthine-guanine phosphoribosyltransferase)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NC_018934.1 NT_011786.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the HPRT1 gene promoter:
p53 Nkx2-2 POU6F1 (c2) AP-2gamma NF-kappaB FOXL1 POU2F1 NF-kappaB2 POU2F1a NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HPRT1 promoter sequence

Search SABiosciences Chromatin IP Primers for HPRT1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HPRT1

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

Entrez Gene cytogenetic band: Xq26.1 Ensembl cytogenetic band: Xq26.2 HGNC cytogenetic band: Xq26.2

HPRT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HPRT1 gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XP133594: view genomic region (about GC identifiers)

Start:	133,594,175 bp from pter	End:	133,654,543 bp from pter
Size:	60,369 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: HPRT_HUMAN, P00492 (See protein sequence)

Recommended Name: Hypoxanthine-guanine phosphoribosyltransferase

Size: 218 amino acids; 24579 Da

Cofactor: Binds 2 magnesium ions per subunit. The magnesium ions are essentially bound to the substrate and have few

direct interactions with the protein

Subunit: Homotetramer

Subcellular location: Cytoplasm

6/8 PDB 3D structures from and Proteopedia for HPRT1 (see all 8):

1BZY (3D)

1D6N (3D)

1HMP (3D)

1Z7G (3D)

2VFA (3D)

3GEP (3D)

Secondary accessions: A6NHF0 B2R8M9

Explore the universe of human proteins at neXtProt for HPRT1: NX_P00492

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P00492

4/11 DME Specific Peptides for HPRT1 (P00492) (see all 11)

VLIVEDI

LIVEDIID

CVISETGK

VEDIIDTG

HPRT1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000185.1

ENSEMBL proteins:

ENSP00000298556

Reactome Protein details: P00492
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Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005625	soluble fraction	--	--
GO:0005737	cytoplasm	IDA	--
GO:0005829	cytosol	TAS	--

HPRT1 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HPRT1 for domains About GeneDecksing

2 InterPro domains/families:

IPR005904 Hxn_phspho_trans

IPR000836 PRibTrfase_dom

Graphical View of Domain Structure for InterPro Entry P00492

ProtoNet protein and cluster: P00492

1 Blocks protein family: IPB002375 Purine/pyrimidine phosphoribosyl transferase

UniProtKB/Swiss-Prot: HPRT_HUMAN, P00492

Similarity: Belongs to the purine/pyrimidine phosphoribosyltransferase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: HPRT_HUMAN, P00492

Function: Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the

5-phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of

purine nucleotides through the purine salvage pathway

Catalytic activity: IMP + diphosphate = hypoxanthine + 5-phospho-alpha-D-ribose 1-diphosphate

Catalytic activity: GMP + diphosphate = guanine + 5-phospho-alpha-D-ribose 1-diphosphate

Biophysicochemical properties: Kinetic parameters: KM=5.4 uM for IMP; KM=0.45 uM for hypoxanthine; KM=25 uM for

pyrophosphate; KM=31 uM for phosphoribosylpyrophosphate;

Genatlas biochemistry entry for HPRT1:

hypoxanthine phosphoribosyltransferase,purine salvage pathway

Enzyme Number (IUBMB): EC 2.4.2.8¹ ²

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		hsa-miR-301b hsa-miR-301a hsa-miR-3666 hsa-miR-19b hsa-miR-4295 hsa-miR-454 hsa-miR-130a hsa-miR-19a
		hsa-miR-130b
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HPRT1

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0000287	magnesium ion binding	IDA	10360366
GO:0004422	hypoxanthine phosphoribosyltransferase activity	IDA	19527031
GO:0005515	protein binding	IPI	19060904
GO:0042802	identical protein binding	--	--

HPRT1 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Hprt^tm1.1Pobe for HPRT1
     15/25 MGI mutant phenotypes (inferred from 121 alleles) (MGI details for Hprt) (see all 25):

behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary
embryogenesis	endocrine/exocrine gland	growth/size	hearing/vestibular/ear	hematopoietic system
homeostasis/metabolism	immune system	integument	liver/biliary system	mortality/aging

HPRT1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Purine metabolism

	Purine metabolism	1.00			Purine salvage	0.39
	Metabolism of nucleotides	0.42

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

adenine and adenosine salvage III

adenine and adenosine salvage III

1.00

guanine and guanosine salvage I

0.50

ATP/ITP metabolism

ATP/ITP metabolism

1.00

ATP/ITP metabolism

0.98

Nucleotide Metabolism

Nucleotide Metabolism

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for HPRT1

ATP/ITP metabolism

1 GeneGo (Thomson Reuters) Pathway for HPRT1

ATP/ITP metabolism

3 BioSystems Pathways for HPRT1

	adenine and adenosine salvage III
	Nucleotide Metabolism
	guanine and guanosine salvage I

4 Reactome Pathways for HPRT1

	Metabolism of nucleotides
	Metabolism
	Purine salvage
	Purine metabolism

1 PharmGKB Pathway for HPRT1

Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics

3 Kegg Pathways (Kegg details for HPRT1):

	Purine metabolism
	Drug metabolism - other enzymes
	Metabolic pathways

UniProtKB/Swiss-Prot: HPRT_HUMAN, P00492

Pathway: Purine metabolism; IMP biosynthesis via salvage pathway; IMP from hypoxanthine: step 1/1

HPRT1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for HPRT1

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

5/97 Interacting proteins for HPRT1 (P00492^{1, 2, 3} ENSP00000298556⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 97)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
WDYHV1	Q96HA8¹^,²^,³, ENSP00000287387⁴	EBI-748210,EBI-741158 MINT-67224 I2D: score=5 STRING: ENSP00000287387
PRTFDC1	Q9NRG1²^,³, ENSP00000318602⁴	MINT-68331 I2D: score=5 STRING: ENSP00000318602
HUS1	O60921³, ENSP00000258774⁴	I2D: score=2 STRING: ENSP00000258774
FANCA	O15360³, ENSP00000373952⁴	I2D: score=1 STRING: ENSP00000373952
UBC	P0CG48³, ENSP00000344818⁴	I2D: score=1 STRING: ENSP00000344818

About this table

Gene Ontology (GO): 5/28 biological process terms (GO ID links to tree view) (see all 28): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001975	response to amphetamine	IEA	--
GO:0006144	purine nucleobase metabolic process	TAS	--
GO:0006164	purine nucleotide biosynthetic process	IMP	9824441
GO:0006166	purine ribonucleoside salvage	IMP	9824441
GO:0006168	adenine salvage	IBA	--

HPRT1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

HPRT1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for HPRT1

10/12 HMDB Compounds for HPRT1 (see all 12) About this table

Compound	Synonyms	CAS #	PubMed Ids
Adenine	1,6-Dihydro-6-iminopurine (see all 19)	73-24-5	--
Adenosine monophosphate	5'-AMP (see all 28)	61-19-8	--
Guanine	GUN (see all 26)	73-40-5	--
Guanosine monophosphate	5'-GMP (see all 14)	85-32-5	--
Hypoxanthine	1,7-Dihydro-6H-purin-6-one (see all 20)	68-94-0	--
Inosinic acid	5'-IMP (see all 9)	131-99-7	--
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	--

8 DrugBank Compounds for HPRT1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Thioguanine	2-Amino 6MP (see all 14)	154-42-7	enzyme	substrate	14529546 11545274 15136753 11756148 1383700
3h-Pyrazolo[4,3-D]Pyrimidin-7-Ol	--	--	target	--	17139284 17016423 10592235
5--Monophosphate-9-Beta-D-Ribofuranosyl Xanthine	--	--	target	--	17139284 17016423 10592235
9-Deazaguanine	--	--	target	--	17139284 17016423 10592235
Alpha-Phosphoribosylpyrophosphoric Acid	--	13270-65-0	target	--	17139284 17016423 10592235
Pyrophosphate 2-	--	--	target	--	17139284 17016423 10592235
Azathioprine	Azathioprin (see all 4)	446-86-6	target	inhibitor	18020555 15354273
Mercaptopurine	6 MP (see all 5)	50-44-2	target	inhibitor	15354273

10/126 Novoseek chemical compound relationships for HPRT1 gene (see all 126) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hypoxanthine	93.4	273	17129743 (3), 2397107 (2), 8824508 (2), 10657589 (2) (see all 99)
6 thioguanine	91.5	152	9262380 (5), 7681532 (4), 9855005 (3), 17066413 (3) (see all 84)
purine	83.3	130	1311306 (3), 12429535 (2), 10850548 (2), 9824441 (2) (see all 88)
prpp	80.6	48	1311306 (4), 10657589 (3), 18536021 (2), 15819884 (2) (see all 19)
actb	78.1	24	16777070 (3), 15720708 (3), 18191039 (2), 17257226 (2) (see all 15)
guanine	74.6	71	1850982 (2), 8589681 (2), 8962428 (2), 10576552 (2) (see all 52)
1,3-butadiene	74.5	57	11397407 (5), 11397400 (4), 15036120 (4), 18288319 (3) (see all 22)
1-nitrosopyrene	73	5	9202750 (1), 8033153 (1), 7592980 (1), 8668188 (1)
butadiene monoxide	72.5	9	8070866 (2), 8149485 (2), 9379915 (1), 9463556 (1) (see all 5)
bpde	71.8	41	1381465 (4), 2120584 (3), 2122466 (3), 9202750 (2) (see all 16)

1 PharmGKB related drug/compound annotation for HPRT1 gene

Drug/compound	PharmGKB Annotation
mycophenolic acid	DL

About this table

Search CenterWatch for drugs/clinical trials and news about HPRT1 / HPRT

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

REFSEQ mRNAs for HPRT1 gene:

NM_000194.2

Unigene Cluster for HPRT1:

Hypoxanthine phosphoribosyltransferase 1

Hs.412707 [show with all ESTs]

Unigene Representative Sequence: NM_000194

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

ENST00000298556(uc004exl.4) ENST00000462974 ENST00000475720

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Additional cDNA sequence:

AK313435.1 BC000578.2 BT019350.1 CR407645.1 L29382.1 L29383.1 M24772.1 M31642.1

U31737.1

7 DOTS entries:

DT.315146 DT.101982197 DT.95182310 DT.121305200 DT.92441189 DT.100800735 DT.99955125

24/275 AceView cDNA sequences (see all 275):

BF725707 BM968309 AV713164 CB158613 BE218846 CA419764 CA418043 BQ774854

BM665410 AA320916 N47311 BM315030 BQ772821 AV648680 BE548220 BX281515

CR614617 AI990397 AI246714 BM712509 H06322 AW949523 T28613 BG216143

GeneLoc Exon Structure

(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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

HPRT1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TATCTTCTAA

About this image
See HPRT1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HPRT1

SOURCE GeneReport for Unigene cluster: Hs.412707

SABiosciences Expression via Pathway-Focused PCR Arrays including HPRT1 (see all 149):

Antiviral Response in human mouse rat

Multiple Sclerosis in human mouse rat

Wound Healing in human mouse rat

Prostate Cancer in human mouse rat

Drug Metabolism: Phase I Enzymes in human mouse rat

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In Situ
Assay Products:

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(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)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for HPRT1 gene from 8/29 species (see all 29) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	HPRT1¹	hypoxanthine phosphoribosyltransferase 1	81.04(n) 90.83(a)		395653 NM_204848.1 NP_990179.1
lizard (Anolis carolinensis)	Reptilia	HPRT1⁶	--	91(a)	1 ↔ 1	GL343761.1(177239-186016)
tropical clawed frog (Xenopus tropicalis)	Amphibia	MGC76223²	hypothetical protein MGC76223	79.79(n)		BC064242.1
zebrafish (Danio rerio)	Actinopterygii	Dr.1668²	Danio rerio cDNA clone MGC56221 IMAGE5600947, complete more	78.57(n)		BC046003.1
worm (Caenorhabditis elegans)	Secernentea	Y105E8B.5³ CELE_Y105E8B.5¹	Protein Y105E8B.5¹	48(a)³ 51.89(n)¹ 49.06(a)¹		I(14665437-14669289)³ 173323¹ NM_061144.4¹ NP_493545.1¹
thale cress (Arabidopsis thaliana)	eudicotyledons	HGPT⁶	hypoxanthine phosphoribosyltransferase	31(a)	possible ortholog	1(26987775-26989199)
rice (Oryza sativa)	Liliopsida	--	phosphoribosyl transferase, putative, expressed	21(a)	possible ortholog	5(4947656-4951852)
E. coli (Escherichia coli)	Gamma proteobacteria	hpt⁶	hypoxanthine phosphoribosyltransferase	33(a)	possible ortholog	Chromosome(141431-141967)

ENSEMBL Gene Tree for HPRT1 (if available)
TreeFam Gene Tree for HPRT1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for HPRT1 gene

PRTFDC1²

1 SIMAP similar gene for HPRT1 using alignment to 2 protein entries: HPRT_HUMAN (see all proteins):

PRTFDC1

HPRT1 for paralogs About GeneDecksing

3 Pseudogenes.org Pseudogenes for HPRT1
PGOHUM00000242429 PGOHUM00000245472 PGOHUM00000235542

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs137852494^1,2	C	pathogenic	133609227(+)	`TTGCTC/G/TGAGAT`	3	R G *	mis¹ stg¹		0	--	--	--	--
rs187029851^1,2		--	133592263(+)	`GCAAAA/GTTATT`	1	--	us2k¹		0	--	--	--	--
rs59097836^1,2	C,	--	133592277(+)	`GAACAC/TGTAAC`	1	--	us2k¹		1		WA	2
rs191873951^1,2		--	133592431(+)	`TGCCCA/GAAGTC`	1	--	us2k¹		0	--	--	--	--
rs17882358^1,2	F	--	133592464(+)	`CCCAGG/TATTTG`	1	--	us2k¹		1		NS	176
rs184166167^1,2		--	133592502(+)	`TTTCCA/CTTACA`	1	--	us2k¹		0	--	--	--	--
rs17884775^1,2	C,F,	--	133592565(+)	`GGACTT/GCACAA`	1	--	us2k¹		8		NS WA	842
rs186729208^1,2		--	133592693(+)	`CAGTAA/GTTATT`	1	--	us2k¹		0	--	--	--	--
rs199606953^1,2		--	133592924(+)	`CAGGT-/TTATTATT`	1	--	us2k¹		0	--	--	--	--
rs59653653^1,2	C,	--	133592967(+)	`AGAGAA/TGCTCA`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for HPRT1 (133594175 - 133654543 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for HPRT1: --
Human Gene Mutation Database (HGMD): HPRT1

Locus Specific Mutation Databases (LSDB): HPRT1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HPRT1

DNA2.0 Custom Variant and Variant Library Synthesis for HPRT1

(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.)
About This Section

HPRT1 for disorders           About GeneDecksing

OMIM gene information: 308000
OMIM disorders: 300322  300323
UniProtKB/Swiss-Prot: HPRT_HUMAN, P00492

Defects in HPRT1 are the cause of Lesch-Nyhan syndrome (LNS) [MIM:300322]. LNS is characterized by complete

lack of enzymatic activity that results in hyperuricemia, choreoathetosis, mental retardation, and compulsive

self-mutilation

Defects in HPRT1 are the cause of gout HPRT-related (GOUT-HPRT) [MIM:300323]; also known as HPRT-related gout

or Kelley-Seegmiller syndrome. Gout is characterized by partial enzyme activity and hyperuricemia

20/107 diseases for HPRT1 (see all 107): About MalaCards

lesch-nyhan syndrome gout phosphoribosylpyrophosphate synthetase superactivity purine nucleoside phosphorylase deficiency

nucleoside phosphorylase deficiency hprt-related gout adenine phosphoribosyltransferase deficiency paroxysmal nocturnal hemoglobinuria

macular holes down syndrome critical region hyperuricemic nephropathy tropical spastic paraparesis

xeroderma pigmentosum acute urate nephropathy spastic paraparesis developmental disabilities

hypouricemia choreoathetosis retinal detachment non-hodgkin lymphoma

7 diseases from the University of Copenhagen DISEASES database for HPRT1:

Lesch-Nyhan syndrome Hyperuricemia DOID:13189 Purine nucleoside phosphorylase deficiency

N syndrome Intellectual disability Nephrolithiasis

10/92 Novoseek disease relationships for HPRT1 gene (see all 92) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
lesch-nyhan syndrome	97.1	433	11307586 (10), 17309125 (7), 15935074 (6), 9629791 (5) (see all 99)
hprt deficiency, partial	95.1	75	16649740 (3), 17065067 (3), 8028417 (2), 11773585 (2) (see all 37)
hyperuricemia	78.4	46	2018042 (2), 16216473 (2), 12508781 (2), 7987318 (1) (see all 29)
somatic mutations	73.3	47	8824508 (2), 11673087 (2), 9435878 (2), 7521002 (2) (see all 31)
choreoathetosis	72.6	6	15193365 (1), 11307586 (1), 12927681 (1), 1487231 (1) (see all 6)
purine metabolism disorder	71.5	4	2018042 (1), 1912725 (1), 17065067 (1)
gout	68.3	49	8112742 (3), 1306134 (2), 10451080 (2), 15862284 (2) (see all 29)
arthritis gouty	65.1	8	19565499 (2), 15158715 (1), 15193365 (1), 15862284 (1) (see all 6)
chromosomal aberrations	63.1	49	1879404 (3), 8143603 (2), 1719390 (2), 7523909 (2) (see all 39)
xeroderma pigmentosum	60.6	7	9379920 (2), 1992158 (1), 7683756 (1), 1372100 (1) (see all 5)

Genatlas disease: HPRT1

Lesch Nyhan syndrome,including severe juvenile gout

GeneTests: HPRT1

Lesch-Nyhan Syndrome

Genetic Association Database (GAD): HPRT1
Human Genome Epidemiology (HuGE) Navigator: HPRT1 (13 documents)

Export disorders for HPRT1 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)
About This Section

PubMed articles for HPRT1 gene, integrated from 9 sources (see all 1001):
(articles sorted by number of sources associating them with HPRT1)

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

A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. (PubMed id 1487231)^{1, 2, 9} Sculley D.G.... Gordon R.B. (1992)
Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency. (PubMed id 1301916)^{1, 2, 9} Sege-Paterson K.... Nyhan W.L. (1992)
Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification. (PubMed id 1937471)^{1, 2, 9} Sculley D.G.... Gordon R.B. (1991)
Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. (PubMed id 2018042)^{1, 2, 9} Davidson B.L.... Palella T.D. (1991)
Differential interactions between GSTM1 and NAT2 genotypes on aromatic DNA adduct level and HPRT mutant frequency in lung cancer patients and population controls. (PubMed id 11219770)^{1, 4, 9} Hou S.M....Lambert B. (2001)
Ternary complex structure of human HGPRTase, PRPP, Mg2+, and the inhibitor HPP reveals the involvement of the flexible loop in substrate binding. (PubMed id 10338013)^{1, 2, 9} Balendiran G.K.... Craig S.P. III (1999)
An asymptomatic germline missense base substitution in the hypoxanthine phosphoribosyltransferase (HPRT) gene that reduces the amount of enzyme in humans. (PubMed id 9003484)^{1, 2, 9} Fujimori S....Kamatani N. (1997)
The crystal structure of human hypoxanthine-guanine phosphoribosyltransferase with bound GMP. (PubMed id 8044844)^{1, 2, 9} Eads J.C.... Sacchettini J.C. (1994)
The crystal structure of free human hypoxanthine-guanine phosphoribosyltransferase reveals extensive conformational plasticity throughout the catalytic cycle. (PubMed id 15990111)^{1, 2, 9} Keough D.T....Guddat L.W. (2005)
Differences in HPRT mutant frequency among middle-aged Flemish women in association with area of residence and blood lead levels. (PubMed id 15204312)^{1, 4, 9} Van Larebeke N....Kleinjans J. (2004)

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

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 3251	HGNC: 5157	AceView: HPRT1	Ensembl:ENSG00000165704	euGenes: HUgn3251
ECgene: HPRT1	Kegg: 3251	H-InvDB: HPRT1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for HPRT1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HPRT1
NIEHS-SNPs	http://egp.gs.washington.edu/data/hprt1/
Wikipedia	http://en.wikipedia.org/wiki/Hypoxanthine-guanine_phosphoribosyltransferase

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HPRT1 Gene

hypoxanthine phosphoribosyltransferase 1

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purine metabolism disorder
Lymphoblastic Leukemia Acute Childhood
LUNG TUMOR
Microsatellite Instability
HYPER-IgM SYNDROME
Genetic Susceptibility
Malaria
Xeroderma Pigmentosum
Thyroid Nodule
aggressiveness
HYPERURICAEMIC NEPHROPATHY
COLON CARCINOMA
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HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE
Breast Cancer
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hereditary nonpolyposis colon cancer
Colorectal Carcinoma
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Macular Holes
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Lymphoblastic Leukemia Acute
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Gout
Skin Cancer
T-ALL
Uric acid nephrolithiasis
Lymphoproliferative Disorders
solid tumor
Carcinoma Squamous Cell
Movement Disorders
Atrophy
BLADDER CARCINOMA
CHOREOATHETOSIS
Chromosomal Aberrations
Anemia Aplastic
Cockayne Syndrome
Lesch-Nyhan Syndrome
Lymphoma Non-Hodgkins
genetic disorder
Lithiasis
Urinary Stones
HPRT DEFICIENCY, PARTIAL
Growth retardation
Neuropathology
Myelodysplastic Syndromes
CNS Diseases
Lupus Erythematosus Systemic
Arthritis

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HPRT1 Gene

hypoxanthine phosphoribosyltransferase 1

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