HPRT1 Gene
protein-coding GIFtS: 69
GCID: GC0XP133594
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|
hypoxanthine phosphoribosyltransferase 1
(Previous symbol: HPRT)
| |
Aliases
for HPRT1 gene
(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 |
Export aliases for HPRT1 gene to outside databasesPrevious GC identifers: GC0XP128239 GC0XP130440 GC0XP131539 GC0XP132299 GC0XP133319 GC0XP133421 GC0XP122992 |
Summaries
for HPRT1 gene(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 monophosphateand guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvagepathway. Mutations in this gene result in Lesch-Nyhan syndrome or gout.(provided by RefSeq, Jun 2009)
UniProtKB/Swiss-Prot: HPRT_HUMAN, P00492Function: Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the5-phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation ofpurine nucleotides through the purine salvage pathway
Gene Wiki entry for HPRT1 (Hypoxanthine-guanine phosphoribosyltransferase)
|
Genomic Views
for HPRT1 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 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
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: Xq26.2HPRT1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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 |
|
Proteins
for HPRT1 gene
(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 fewdirect 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 B2R8M9Explore the universe of human proteins at neXtProt for HPRT1: NX_P00492
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P00492
4/11 DME Specific Peptides for HPRT1 (P00492) (see all 11)
HPRT1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_000185.1
ENSEMBL proteins: ENSP00000298556 Reactome Protein details: P00492
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
HPRT1 for ontologies About GeneDecksing
HPRT1 Antibody Products:
Assay Products for HPRT1: |
Protein
Domains /
Families
for HPRT1 gene(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:Graphical View of Domain Structure for InterPro Entry P00492ProtoNet protein and cluster: P00492 1 Blocks protein family: IPB002375 Purine/pyrimidine phosphoribosyl transferase
UniProtKB/Swiss-Prot: HPRT_HUMAN, P00492Similarity: Belongs to the purine/pyrimidine phosphoribosyltransferase family |
Function
for HPRT1 gene
(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, P00492Function: Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the5-phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation ofpurine nucleotides through the purine salvage pathwayCatalytic activity: IMP + diphosphate = hypoxanthine + 5-phospho-alpha-D-ribose 1-diphosphateCatalytic activity: GMP + diphosphate = guanine + 5-phospho-alpha-D-ribose 1-diphosphateBiophysicochemical properties: Kinetic parameters: KM=5.4 uM for IMP; KM=0.45 uM for hypoxanthine; KM=25 uM forpyrophosphate; KM=31 uM for phosphoribosylpyrophosphate; Genatlas biochemistry entry for HPRT1:hypoxanthine phosphoribosyltransferase,purine salvage pathway
Enzyme Number (IUBMB): EC 2.4.2.81 2
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HPRT1 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HPRT1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: HPRT1 (NM_000194) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HPRT1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HPRT1 |
In Situ Assay
Products: |
 | 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
HPRT1 for ontologies About GeneDecksing
Animal Models:
Mouse knock-out Hprttm1.1Pobe for HPRT1
15/25 MGI mutant phenotypes (inferred from 121 alleles ) (MGI details for Hprt) (see all 25):
HPRT1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for HPRT1 gene
(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 |
|---|
| 1 | Purine metabolism | | | 2 | Metabolism | | | 3 | adenine and adenosine salvage III | | | 4 | ATP/ITP metabolism | | | 5 | Nucleotide Metabolism | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for HPRT1
1  GeneGo (Thomson Reuters) Pathway for HPRT1
3  BioSystems Pathways for HPRT1
4 
Reactome Pathways for HPRT1
1  PharmGKB Pathway for HPRT1
3 
Kegg Pathways (Kegg details for HPRT1):
UniProtKB/Swiss-Prot: HPRT_HUMAN, P00492Pathway: Purine metabolism; IMP biosynthesis via salvage pathway; IMP from hypoxanthine: step 1/1
HPRT1 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM 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 (P004921, 2, 3 ENSP000002985564) via UniProtKB, MINT, STRING, and/or I2D (see all 97)
About this table
Gene Ontology (GO): 5/28 biological process terms (GO ID links to tree view) (see all 28): About this table
HPRT1 for ontologies About GeneDecksing
|
Drugs & Compounds
for HPRT1 gene(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 Tocris compounds for HPRT1
10/12 HMDB Compounds for HPRT1 (see all 12) About this table
8 DrugBank Compounds for HPRT1 About this table
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), 15819884 (2), 9799086 (2), 19479277 (2), 1850982 (2), 1517591 (2), 1715310 (2), 9860824 (2), 17883419 (2), 15711436 (2), 9435878 (2), 9031622 (2), 9003484 (2), 8522326 (2), 7666869 (2), 8128888 (2), 1886405 (2), 1618489 (1), 1306134 (1), 12959304 (1), 9118969 (1), 10828836 (1), 10976110 (1), 14572307 (1), 1855386 (1), 2381248 (1), 20378769 (1), 19876011 (1), 19706768 (1), 18191039 (1), 17265179 (1), 17024966 (1), 15204312 (1), 11966314 (1), 11928606 (1), 11101814 (1), 10833458 (1), 10334623 (1), 9506887 (1), 9413985 (1), 9357553 (1), 9260898 (1), 8538650 (1), 8750613 (1), 1448069 (1), 1434805 (1), 1639405 (1), 1583701 (1), 1746558 (1), 1920427 (1), 1896453 (1), 11305360 (1), 10925839 (1), 10629441 (1), 10408785 (1), 10229922 (1), 9738504 (1), 9165092 (1), 9025089 (1), 8265360 (1), 8100140 (1), 7681532 (1), 1899056 (1), 2122466 (1), 17065065 (1), 16611240 (1), 14978792 (1), 12682639 (1), 7601456 (1), 7730149 (1), 8200099 (1), 11669633 (1), 10029687 (1), 10850548 (1), 10587350 (1), 9629791 (1), 8976093 (1), 8887649 (1), 8876674 (1), 1712904 (1), 2037299 (1), 2339112 (1), 18983665 (1), 18779430 (1), 16861950 (1), 16777070 (1), 12376471 (1), 9257742 (1), 9219588 (1), 9202750 (1), 8992857 (1), 7635321 (1), 8111415 (1), 1370718 (1), 1916808 (1), 11668636 (1) (see top 4) |
| 6 thioguanine |
91.5 |
152 |
9262380 (5), 7681532 (4), 9855005 (3), 17066413 (3), 1568789 (3), 9600338 (2), 11756148 (2), 7728967 (2), 7688087 (2), 1734447 (1), 1306134 (1), 8125082 (1), 8794850 (1), 8876696 (1), 8914407 (1), 1730527 (1), 7523883 (1), 8824877 (1), 9000176 (1), 10719032 (1), 11295113 (1), 11827715 (1), 15146465 (1), 1973821 (1), 2262367 (1), 1655249 (1), 7828367 (1), 7902402 (1), 1311306 (1), 1762116 (1), 2067529 (1), 2385237 (1), 1688803 (1), 19279184 (1), 15140374 (1), 9090198 (1), 7945481 (1), 7920025 (1), 15858385 (1), 10839990 (1), 9187113 (1), 8921909 (1), 7753096 (1), 12428920 (1), 18279955 (1), 14676365 (1), 10404070 (1), 11424177 (1), 11239972 (1), 10728688 (1), 10636001 (1), 9626969 (1), 8044792 (1), 1581901 (1), 2209564 (1), 8309581 (1), 7689157 (1), 1584799 (1), 1541259 (1), 1311636 (1), 1672367 (1), 19680011 (1), 14529546 (1), 11807929 (1), 10894891 (1), 10849375 (1), 9598152 (1), 9049058 (1), 7477056 (1), 12521305 (1), 9729267 (1), 9399700 (1), 8625468 (1), 7700275 (1), 8185627 (1), 1579070 (1), 2050131 (1), 8129782 (1), 11545274 (1), 1434805 (1), 8450767 (1), 7554056 (1), 7477048 (1), 7588647 (1) (see top 4) |
| purine |
83.3 |
130 |
1311306 (3), 12429535 (2), 10850548 (2), 9824441 (2), 15210120 (2), 7920025 (2), 11545274 (2), 2125239 (1), 1432691 (1), 8872911 (1), 11771623 (1), 11773585 (1), 12436387 (1), 14673178 (1), 17448149 (1), 9629791 (1), 8976093 (1), 8984938 (1), 8590759 (1), 7599155 (1), 7728354 (1), 8439471 (1), 1712904 (1), 18779430 (1), 16549399 (1), 15178494 (1), 15140374 (1), 12757645 (1), 10767182 (1), 10760551 (1), 10629441 (1), 10408785 (1), 9598024 (1), 15862283 (1), 9108251 (1), 8064675 (1), 1717694 (1), 1912725 (1), 19635551 (1), 15660329 (1), 11535170 (1), 10343529 (1), 9521670 (1), 7767640 (1), 16818429 (1), 17027311 (1), 17454734 (1), 17065067 (1), 17062485 (1), 16649740 (1), 16343967 (1), 15935074 (1), 15202925 (1), 11698147 (1), 11018746 (1), 10884027 (1), 10854773 (1), 15502221 (1), 9521733 (1), 8589681 (1), 1487231 (1), 1840549 (1), 19362594 (1), 16336632 (1), 16773422 (1), 8864750 (1), 7655619 (1), 2071157 (1), 2265452 (1), 1688803 (1), 18409516 (1), 17883419 (1), 17922512 (1), 8976112 (1), 1561565 (1), 1850982 (1), 18067674 (1), 17894860 (1), 17697859 (1), 15059624 (1), 11434773 (1), 15193365 (1), 16107271 (1), 2018042 (1), 8992857 (1), 10403507 (1), 10833458 (1), 11684038 (1) (see top 4) |
| prpp |
80.6 |
48 |
1311306 (4), 10657589 (3), 18536021 (2), 15819884 (2), 12618088 (2), 2155755 (2), 10338013 (2), 12959304 (1), 9860824 (1), 1717694 (1), 8448172 (1), 9521733 (1), 1282899 (1), 1847794 (1), 8739129 (1), 9165092 (1), 10833458 (1), 1373820 (1), 8976110 (1) (see top 4) |
| actb |
78.1 |
24 |
16777070 (3), 15720708 (3), 18191039 (2), 17257226 (2), 16600798 (1), 19624860 (1), 18093344 (1), 19544972 (1), 11827948 (1), 18317805 (1), 16211407 (1), 17324259 (1), 18096027 (1), 19368728 (1), 20122155 (1) (see top 4) |
| guanine |
74.6 |
71 |
1850982 (2), 8589681 (2), 8962428 (2), 10576552 (2), 1381465 (1), 8313509 (1), 8028417 (1), 9118969 (1), 9868957 (1), 10769124 (1), 10976110 (1), 1370718 (1), 10833458 (1), 16861950 (1), 1712904 (1), 1920427 (1), 8750613 (1), 8976093 (1), 9806154 (1), 2122466 (1), 1899056 (1), 9521733 (1), 8383034 (1), 8200099 (1), 9396032 (1), 11307586 (1), 15711436 (1), 16452584 (1), 16216473 (1), 2104895 (1), 9521670 (1), 7565647 (1), 8851475 (1), 10635998 (1), 2223882 (1), 2288993 (1), 2071157 (1), 8033107 (1), 9054586 (1), 9670994 (1), 8143707 (1), 7969265 (1), 7592980 (1), 10545170 (1), 11059760 (1), 12508781 (1), 15159647 (1), 15990111 (1), 19362594 (1), 1487231 (1), 8504428 (1), 8321229 (1) (see top 4) |
| 1,3-butadiene |
74.5 |
57 |
11397407 (5), 11397400 (4), 15036120 (4), 18288319 (3), 11238181 (3), 7859343 (2), 8901886 (2), 8070871 (2), 9463556 (2), 10918361 (2), 12931846 (2), 11397405 (1), 8901887 (1), 11018742 (1), 8070866 (1), 7623862 (1), 12605384 (1), 8149485 (1), 10607734 (1), 11397382 (1), 12521305 (1), 8901888 (1) (see top 4) |
| 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), 7859344 (1) (see top 4) |
| bpde |
71.8 |
41 |
1381465 (4), 2120584 (3), 2122466 (3), 9202750 (2), 7892248 (2), 7821287 (2), 1608950 (2), 1899056 (2), 9006108 (1), 7592980 (1), 1584799 (1), 1902394 (1), 10334623 (1), 18479980 (1), 17395554 (1), 1486852 (1) (see top 4) |
1 PharmGKB related drug/compound annotation for HPRT1 geneAbout this table
Search CenterWatch for drugs/clinical trials and news about HPRT1 / HPRT
|
Transcripts
for HPRT1 gene(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,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
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_0001943 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000298556(uc004exl.4) ENST00000462974 ENST00000475720
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HPRT1 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HPRT1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: HPRT1 (NM_000194) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HPRT1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HPRT1 |
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
|
Expression
for HPRT1 gene
(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):
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HPRT1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HPRT1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HPRT1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HPRT1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HPRT1 |
Orthologs
for HPRT1 gene
(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
for HPRT1 gene(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
|
Genomic Variants
for HPRT1 gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr X pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
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 |
|
Disorders
/ Diseases
for HPRT1 gene
(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 completelack of enzymatic activity that results in hyperuricemia, choreoathetosis, mental retardation, and compulsiveself-mutilation Defects in HPRT1 are the cause of gout HPRT-related (GOUT-HPRT) [MIM:300323]; also known as HPRT-related goutor Kelley-Seegmiller syndrome. Gout is characterized by partial enzyme activity and hyperuricemia
20/107  diseases for HPRT1 (see all 107): About MalaCardslesch-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
|
Publications
for HPRT1 gene (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)
|
External Searches for HPRT1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing HPRT1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing HPRT1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing HPRT1 gene(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 |
|
| | |
About This Section
| 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
|
Products
for HPRT1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | OriGene Antibodies for HPRT1 | | OriGene shRNA RFP for HPRT1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HPRT1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HPRT1 | | | OriGene Protein Over-expression Lysate for HPRT1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for HPRT1 | | OriGene 3'-UTR Clone for HPRT1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HPRT1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HPRT1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for HPRT1 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for HPRT1 | | OriGene Custom Protein Services for HPRT1 | | | OriGene Custom Immunoassay Development | | |
| |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HPRT1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HPRT1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HPRT1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HPRT1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HPRT1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HPRT1 |
| |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HPRT1 |
|  |  |  | | | | ThermoFisher Antibody for HPRT1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HPRT1 |
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