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HPRT1 Gene

protein-coding GIFtS: 72
GCID: GC0XP133594

Hypoxanthine Phosphoribosyltransferase 1

(Previous symbol: HPRT)

See HPRT1-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 hprt-related gout, and atlantoaxial subluxation. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000023.10 NC_018934.2 NT_011786.17

Regulatory elements:

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 Chromatin IP Primers for HPRT1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 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: 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

Selected PDB 3D structures from and Proteopedia for HPRT1 (see all 10):

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:

Ubiquitination² at Lys103, Lys166, Lys175

Modification sites at PhosphoSitePlus

Selected DME Specific Peptides for HPRT1 (P00492) (see all 11)

VLIVEDI

LIVEDIID

CVISETGK

VEDIIDTG

See HPRT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_000185.1

ENSEMBL proteins:

ENSP00000298556

Reactome Protein details: P00492

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

Find genes that share domains with HPRT1 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: 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): Selected molecular function terms (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	--	--

Find genes that share ontologies with HPRT1 About GenesLikeMe

Phenotypes:
Selected MGI mutant phenotypes (inferred from 153 alleles) (MGI details for Hprt) (see all 25):

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

Find genes that share phenotypes with HPRT1 About GenesLikeMe

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

genOway: Develop your customized and physiologically relevant rodent model for HPRT1

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		Selected qRT-PCR Assays for microRNAs that regulate HPRT1 (see all 9):
		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

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HPRT1

Flow Cytometry
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eBioscience FlowRNA Probe Sets ( VA1-11124 VA4-13195 VA6-13194 VF1-13867) for HPRT1

(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 UniProtKB/Swiss-Prot

HPRT_HUMAN, P00492: Cytoplasm

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytosol	3
mitochondrion	3
nucleus	2
plasma membrane	2
extracellular	1

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Gene Ontology (GO): 3 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	--
GO:0005829	cytosol	TAS	--
GO:0070062	extracellular vesicular exosome	IDA	--

Find genes that share ontologies with HPRT1 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 HPRT1 About (see all 7)

See pathways by source

Powered
by

SuperPath

Contained pathways About

Purine metabolism (REACTOME)

Purine metabolism	0.42	Purine salvage	0.00
Metabolism of nucleotides	0.42	guanine and guanosine salvage	0.00
adenine and adenosine salvage III	0.00

Metabolism

Metabolism

0.38

Metabolic pathways

0.38

Purine metabolism (KEGG)

Purine metabolism

0.38

ATP/ITP metabolism

0.31

purine nucleotide salvage

purine nucleotide salvage

0.78

Glucuronidation

Drug metabolism - other enzymes

0.36

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Pathways by source See SuperPaths
Show all pathways

1 GeneGo (Thomson Reuters) Pathway for HPRT1

ATP/ITP metabolism

4 BioSystems Pathways for HPRT1

	Nucleotide Metabolism
	adenine and adenosine salvage III
	purine nucleotide salvage
	guanine and guanosine salvage

1 Reactome Pathway for HPRT1

Purine salvage

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

Pathway & Disease-focused RT² Profiler 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

Interactions:

Search GeneGlobe Interaction Network for HPRT1

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

Selected 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

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Gene Ontology (GO): Selected biological process terms (see all 29): 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	--

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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 HPRT1 (HPRT)

Selected 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

Selected 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

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(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 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

miRNA Products:		Block miRNA regulation of human, mouse, rat HPRT1 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate HPRT1 (see all 9):
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Flow Cytometry
Products:

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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

Selected AceView cDNA sequences (see all 275):

AI990397 BX281515 AA320916 BF725707 BM968309 N47311 CA419764 BM315030

AW949523 CB158613 BE218846 CA418043 BE548220 BQ774854 H06322 AI246714

BQ772821 AV713164 AV648680 CR614617 BM665410 BM712509 BI964091 BM904628

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™, 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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HPRT1 expression in normal human tissues (normalized intensities)
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
selected tissues (see all 12) fully expand


Brain (Nervous System) fully expand to see all 9 entries
Cerebral Cortex

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

Testis (Reproductive System) fully expand to see all 2 entries
XY Germ Cells Testis Cord

Kidney (Urinary System)
Metanephros

Gonad
XY Germ Cells Testis Cord

HPRT1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

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HPRT1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.412707

Pathway & Disease-focused RT² Profiler 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)
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This gene was present in the common ancestor of animals.

Orthologs for HPRT1 gene from Selected 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	hypoxanthine phosphoribosyltransferase 1	83(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	CELE_Y105E8B.5¹	48(a)³ 51.89(n)¹ 49.06(a)¹		I(14665437-14669289)³ 173323¹ NM_061144.5¹ 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)
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Paralogs for HPRT1 gene

PRTFDC1²

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

PRTFDC1

Find genes that share paralogs with HPRT1 About GenesLikeMe

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), 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	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

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing HPRT1

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(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: 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

18 diseases for HPRT1:
About MalaCards

gout lesch-nyhan syndrome gout, hprt1-related non-hodgkin lymphoma

adenine phosphoribosyltransferase deficiency hodgkin's lymphoma purine nucleoside phosphorylase deficiency hyperuricemia

18q deletion syndrome macular holes nephrolithiasis tetrahydrobiopterin deficiency

phosphoribosylpyrophosphate synthetase superactivity colon cancer

7 inferred disease relationships from the University of Copenhagen DISEASES database for HPRT1:

Lesch-Nyhan syndrome Hyperuricemia Gout N syndrome

Purine nucleoside phosphorylase deficiency Intellectual disability Cancer

Find genes that share disorders with HPRT1 About GenesLikeMe

Selected 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
GeneReviews: HPRT1
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)
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PubMed articles for HPRT1 gene, integrated from 10 sources (see all 1005):
(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. (Hum. Genet. 1992)
Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency. (PubMed id 1301916)^{1, 2, 9} Sege-Paterson K.... Nyhan W.L. (Hum. Mol. Genet. 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. (Hum. Genet. 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. (Am. J. Hum. Genet. 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. (amp 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. (amp 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 (Protein Sci. 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. (Hum. Genet. 1997)
The crystal structure of human hypoxanthine-guanine phosphoribosyltransferase with bound GMP. (PubMed id 8044844)^{1, 2, 9} Eads J.C.... Sacchettini J.C. (Cell 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. (Drug Metab. Pharmacokinet. 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)
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Entrez Gene: 3251	HGNC: 5157	AceView: HPRT1	Ensembl:ENSG00000165704	euGenes: HUgn3251
ECgene: HPRT1	Kegg: 3251	H-InvDB: HPRT1

(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 HPRT1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HPRT1[genesymbol]
NIEHS-SNPs	http://egp.gs.washington.edu/data/hprt1/
Wikipedia	http://en.wikipedia.org/wiki/Hypoxanthine-guanine_phosphoribosyltransferase

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

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

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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
Teratocarcinoma
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE
Breast Cancer
Carrier State
disability
Cancer
hereditary nonpolyposis colon cancer
Colorectal Carcinoma
somatic mutations
Infestation
Myeloproliferative Disorders
Arthritis Gouty
HEMATOLOGIC DISORDERS
Inflammation
Germ-Line Mutation
Parasitic Diseases
Retinal Detachment
Macular Holes
Anemia
HYPOURICEMIA, RENAL
Renal Failure
Rheumatoid Arthritis
Mental Retardation
Tumors
Lymphoblastic Leukemia Acute
Necrosis
Fibrosarcoma
Renal Failure Acute
SMOKING HABIT
childhood cancer
COLON TUMOR
progressive disease
Ataxia Telangiectasia
HYPERURICEMIA
ENZYME DEFICIENCY
Developmental Disabilities
Melanoma
BREAST CARCINOMA
skin tumor
Neurological Disorders
Colon Cancer
promyelocytic leukemia
Carcinoma
ACUTE LEUKEMIA
Leukemia
Alzheimers Disease
Congenital absence
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
CNS Diseases
Lupus Erythematosus Systemic
Arthritis

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HPRT1 Gene

Hypoxanthine Phosphoribosyltransferase 1

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