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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

HPRT1 Gene

protein-coding GIFtS: 71
GCID: GC0XP133594

Hypoxanthine Phosphoribosyltransferase 1

(Previous symbol: HPRT)

Microbiology & Infectious Diseases Congress

97 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Hypoxanthine Phosphoribosyltransferase 1¹ ²		EC 2.4.2.8³ ⁸
HPRT¹ ² ³ ⁵		Lesch-Nyhan Syndrome¹
HGPRT² ³		Hypoxanthine-Guanine Phosphoribosyltransferase²
HGPRTase² ³

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 Gene:

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)

GeneCards Summary for HPRT1 Gene:

HPRT1 (hypoxanthine phosphoribosyltransferase 1) is a protein-coding gene. Diseases associated with HPRT1 include lesch-nyhan syndrome, and gout, and among its related super-pathways are Metabolic pathways and Purine metabolism. GO annotations related to this gene include magnesium ion binding and protein homodimerization activity. An important paralog of this gene is PRTFDC1.

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

RefSeq DNA sequence:

NC_000023.10 NC_018934.2 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

6/9 PDB 3D structures from and Proteopedia for HPRT1 (see all 9):

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

Explore proteomics data for HPRT1 at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

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 MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins: NP_000185.1

ENSEMBL proteins:

ENSP00000298556

Reactome Protein details: P00492
Human Recombinant Protein Products for HPRT1:

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	ProSpec Recombinant Protein for HPRT1
	Cloud-Clone Corp. Proteins for HPRT1

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

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

HPRT1 for ontologies About GeneDecksing

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	Cloud-Clone Corp. ELISAs for HPRT1 Cloud-Clone Corp. CLIAs for HPRT1

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

2 InterPro protein domains:

IPR005904 Hxn_phspho_trans

IPR000836 PRibTrfase_dom

Graphical View of Domain Structure for InterPro Entry P00492

ProtoNet protein and cluster: P00492

1 Blocks protein domain: IPB002375 Purine/pyrimidine phosphoribosyl transferase

UniProtKB/Swiss-Prot: HPRT_HUMAN, P00492

Similarity: Belongs to the purine/pyrimidine phosphoribosyltransferase family

HPRT1 for domains About GeneDecksing

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

Molecular Function:

UniProtKB/Swiss-Prot Summary: 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

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	16189514
GO:0042802	identical protein binding	--	--

HPRT1 for ontologies About GeneDecksing

Phenotypes:
15/25 MGI mutant phenotypes (inferred from 122 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

Animal Models:
Mouse knock-out Hprt^tm1.1Pobe for HPRT1

inGenious Targeting Laboratory - Custom generated mouse model solutions for HPRT1

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HPRT1

miRNA Products:
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HPRT1
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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

		SwitchGear 3'UTR luciferase reporter plasmid: HPRT1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HPRT1

(Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for HPRT1 About (see all 7)

See pathways by source

SuperPath

Contained pathways About

Metabolism

Metabolism

0.40

Metabolic pathways

0.40

Purine metabolism

Purine metabolism

0.38

ATP/ITP metabolism

0.31

Purine metabolism

	Purine metabolism	0.42			Purine salvage	0.39
	Metabolism of nucleotides	0.42

adenine and adenosine salvage III

adenine and adenosine salvage III

0.75

guanine and guanosine salvage I

0.50

Antimetabolite Pathway - Folate Cycle, Pharmacodynamics

Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics

0.36

Pathways by source See SuperPaths
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

	Nucleotide Metabolism
	adenine and adenosine salvage III
	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, IUPHAR, 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 (HPRT)

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 3)	446-86-6	target	inhibitor	18020555 15354273
Mercaptopurine	6 MP (see all 5)	50-44-2	target	inhibitor	15354273

10/126 Novoseek inferred 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 About this table

Drug/compound	PharmGKB Annotation
mycophenolic acid

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

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
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

Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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		Sirion Biotech Custom design and validation of potent shRNA sequences against HPRT1

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		GenScript: all cDNA clones in your preferred vector: HPRT1 (NM_000194)
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HPRT1

Additional mRNA 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):

AV713164 BE548220 AV648680 CA419764 BQ774854 BQ772821 BM665410 CA418043

BM968309 AI990397 H06322 CB158613 BF725707 AI246714 BX281515 AW949523

N47311 BM712509 AA320916 BE218846 CR614617 BM315030 CD106070 AA122343

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) HPRT1 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TATCTTCTAA

About this image

HPRT1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/22 selected tissues (see all 22) fully expand


Brain (Nervous System) fully expand to see all 8 entries
Thalamus
brain/midbrain

Cartilage (Muscoskeletal System) fully expand to see all 5 entries
Rostral Chondrocranium

Neural Tube (Nervous System) fully expand to see all 3 entries
Metencephalon

Heart (Cardiovascular System) fully expand to see all 3 entries
heart/ventricle

Lower Urinary Tract (Urinary System) fully expand to see all 2 entries
visceral organ

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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(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 common ancestor of animals.

Orthologs for HPRT1 gene from 6/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Hprt^{1 , 5}	hypoxanthine guanine phosphoribosyl transferase^{1, 5}	93.43(n)¹ 96.79(a)¹		X (29.31 cM)⁵ 15452¹ NM_013556.2¹ NP_038584.2¹ 52988137⁵
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	Uncharacterized protein	84(a)	1 ↔ 1	GL343761.1(177239-198233)
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

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, 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) 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	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
VAR_006755⁴	Gout HPRT-related (GOUT-HPRT)⁴	--	see VAR_006755	2	C W	mis⁴		0	--	--	--	--
VAR_006765⁴	Lesch-Nyhan syndrome (LNS)⁴	--	see VAR_006765	2	R P	mis⁴		0	--	--	--	--
VAR_006774⁴	Lesch-Nyhan syndrome (LNS)⁴	--	see VAR_006774	2	G R	mis⁴		0	--	--	--	--
VAR_006797⁴	Gout HPRT-related (GOUT-HPRT)⁴	--	see VAR_006797	2	D E	mis⁴		0	--	--	--	--
VAR_006779⁴	Gout HPRT-related (GOUT-HPRT)⁴	--	see VAR_006779	2	S L	mis⁴		0	--	--	--	--
VAR_006763⁴	Lesch-Nyhan syndrome (LNS)⁴	--	see VAR_006763	2	A P	mis⁴		0	--	--	--	--
VAR_006768⁴	Gout HPRT-related (GOUT-HPRT)⁴	--	see VAR_006768	2	V M	mis⁴		0	--	--	--	--
VAR_006787⁴	Gout HPRT-related (GOUT-HPRT)⁴	--	see VAR_006787	2	A S	mis⁴		0	--	--	--	--
VAR_006790⁴	Lesch-Nyhan syndrome (LNS)⁴	--	see VAR_006790	2	P L	mis⁴		0	--	--	--	--
VAR_006778⁴	Gout HPRT-related (GOUT-HPRT)⁴	--	see VAR_006778	2	S R	mis⁴		0	--	--	--	--

HapMap Linkage Disequilibrium report for HPRT1 (133594175 - 133654543 bp)

Structural Variations
Database of Genomic Variants (DGV) variations for HPRT1: --

Human Gene Mutation Database (HGMD): HPRT1

Locus Specific Mutation Databases (LSDB): HPRT1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, 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

Lesch-Nyhan syndrome (LNS) [MIM:300322]: Characterized by complete lack of enzymatic activity that results in

hyperuricemia, choreoathetosis, mental retardation, and compulsive self-mutilation. Note=The disease is caused by

mutations affecting the gene represented in this entry

Gout HPRT-related (GOUT-HPRT) [MIM:300323]: Characterized by partial enzyme activity and hyperuricemia.

Note=The disease is caused by mutations affecting the gene represented in this entry

20/97 diseases for HPRT1 (see all 97): About MalaCards

lesch-nyhan syndrome gout atlantoaxial subluxation hereditary hyperuricemia

hyperuricemia phosphoribosylpyrophosphate synthetase superactivity nephrolithiasis macular holes

purine nucleoside phosphorylase deficiency bloom syndrome tetrahydrobiopterin deficiency retinal detachment

n syndrome down syndrome critical region paroxysmal nocturnal hemoglobinuria developmental disabilities

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

Lesch-Nyhan syndrome Hyperuricemia Gout N syndrome

Purine nucleoside phosphorylase deficiency Intellectual disability Cancer

Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

10/92 Novoseek inferred 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 1004):
(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)
Sequential evaluation of thiopurine methyltransferase, inosine triphosphate pyrophosphatase, and HPRT1 genes polymorphisms to explain thiopurines' toxicity and efficacy. (PubMed id 17697207)^{1, 4, 9} Palmieri O....Annese V. (2007)
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)
Genetic variations in the HGPRT, ITPA, IMPDH1, IMPDH2 , and GMPS genes in Japanese individuals. (PubMed id 20045992)^{1, 4, 9} Kudo M....Hiratsuka M. (2009)

(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)
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

Intellectual Property for HPRT1 gene
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Patent Information for HPRT1 gene:
Search GeneIP for patents involving HPRT1

GeneCards and IP:
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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
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Breast Cancer
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hereditary nonpolyposis colon cancer
Colorectal Carcinoma
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Retinal Detachment
Macular Holes
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Lymphoblastic Leukemia Acute
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childhood cancer
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HYPERURICEMIA
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promyelocytic leukemia
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Allelic Loss
Fanconis Anemia
GOUT PRIMARY
Nephrolithiasis
Bloom Syndrome
chemically induced
Cancer Lung
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
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HPRT1 Gene

Hypoxanthine Phosphoribosyltransferase 1

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