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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 i... See more...
Aliases for HPRT1 Gene
Aliases for HPRT1 Gene
External Ids for HPRT1 Gene
- HGNC: 5157
- Entrez Gene: 3251
- Ensembl: ENSG00000165704
- OMIM: 308000
- UniProtKB: P00492
Previous HGNC Symbols for HPRT1 Gene
- HPRT
Previous GeneCards Identifiers for HPRT1 Gene
- GC0XP128239
- GC0XP130440
- GC0XP131539
- GC0XP132299
- GC0XP133319
- GC0XP133421
- GC0XP133594
- GC0XP122992
Summaries 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 Kelley-Seegmiller Syndrome. Among its related pathways are Metabolism of nucleotides and ATP/ITP metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and nucleotide binding. An important paralog of this gene is PRTFDC1.
UniProtKB/Swiss-Prot Summary for HPRT1 Gene
-
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.
Additional gene information for HPRT1 Gene
- HGNC(5157)
- Entrez Gene(3251)
- Ensembl(ENSG00000165704)
- OMIM(308000)
- UniProtKB(P00492)
- Open Targets Platform(ENSG00000165704)
- Monarch Initiative
- Search for HPRT1 at DataMed
- Search for HPRT1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HPRT1 Gene
Genomics for HPRT1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for HPRT1 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH0XJ134459 | Promoter/Enhancer | 1.9 | EPDnew Ensembl ENCODE CraniofacialAtlas | 600.7 | +0.4 | 436 | 2.4 | PRDM10 IKZF1 ZNF692 POLR2A BACH1 LARP7 ZSCAN4 RBFOX2 ZNF24 PATZ1 | HPRT1 FAM122B PHF6 RF00017-8734 RF00017-8733 RF00017-8732 PLAC1 | |
| GH0XJ134453 | Promoter | 0.5 | EPDnew | 600.4 | -6.4 | -6356 | 0.1 | HMBOX1 CBFA2T3 | piR-48820-103 HPRT1 PHF6 RF00017-8732 | |
| GH0XJ134431 | Enhancer | 0.5 | Ensembl | 14.1 | -28.3 | -28264 | 1 | JUND CEBPB JUN EP300 JUNB POLR2A | HPRT1 lnc-HPRT1-5 piR-32285-105 PHF6 RF00017-8732 | |
| GH0XJ134482 | Enhancer | 0.3 | Ensembl | 14.2 | +22.6 | 22635 | 1.6 | MYC MAX | HPRT1 MIR503HG RF00017-8735 NONHSAG055347.2-001 RF00017-8733 RF00017-8732 PLAC1 | |
| GH0XJ134457 | Enhancer | 0.6 | Ensembl | 0.7 | -2.3 | -2253 | 0.6 | PKNOX1 ZNF24 NR2C2 NFIC TBP NR2F1 DPF2 ADNP ZEB2 MEIS2 | HPRT1 piR-48820-103 PHF6 RF00017-8732 RF00017-8733 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around HPRT1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HPRT1
- Top Transcription factor binding sites by QIAGEN in the HPRT1 gene promoter:
-
- AP-2gamma
- FOXL1
- NF-kappaB
- NF-kappaB1
- NF-kappaB2
- Nkx2-2
- p53
- POU2F1
- POU2F1a
- POU6F1 (c2)
Genomic Locations for HPRT1 Gene
Genomic Locations for HPRT1 Gene
- chrX:134,460,165-134,520,513
- (GRCh38/hg38)
- Size:
- 60,349 bases
- Orientation:
- Plus strand
- chrX:133,594,175-133,654,543
- (GRCh37/hg19)
- Size:
- 60,369 bases
- Orientation:
- Plus strand
Genomic View for HPRT1 Gene
Genes around HPRT1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xq26.2-q26.3 by HGNC
- Xq26.2-q26.3 by Entrez Gene
- Xq26.2 by Ensembl
HPRT1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HPRT1 Gene
Proteins for HPRT1 Gene
-
Protein details for HPRT1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P00492-HPRT_HUMAN
- Recommended name:
- Hypoxanthine-guanine phosphoribosyltransferase
- Protein Accession:
- P00492
- A6NHF0
- B2R8M9
Protein attributes for HPRT1 Gene
- Size:
- 218 amino acids
- Molecular mass:
- 24579 Da
- Cofactor:
- Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
- Quaternary structure:
-
- Homotetramer.
Protein Expression for HPRT1 Gene
Selected DME Specific Peptides for HPRT1 Gene
- P00492:
-
- FVVGYALDYN
- FRDLNHVCVISE
- LIVEDIID
- IPHGLIMDRTERLAR
- GYDLDLFCIP
- CVISETGK
- VEDIIDTG
- VKVASLLVKRT
- VLIVEDI
- KSYCNDQSTG
- MGGHHIVALCVLKGGYKFFADLLDYIKALNRNSD
Post-translational modifications for HPRT1 Gene
Other Protein References for HPRT1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ HPRT1 Antibody
- Novus Biologicals Antibodies for HPRT1
-
Abcam antibodies for HPRT1
- Invitrogen Antibodies for HPRT1 (AFLGC-HPRT1)
-
Santa Cruz Biotechnology (SCBT) Antibodies for HPRT1
- Sino Biological Antibodies for HPRT1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for HPRT1
- Origene Custom Protein Services for HPRT1
- ProSpec Recombinant Proteins for HPRT1
-
ProSci Proteins for HPRT1
-
Abcam proteins for HPRT1
Assay Products
Domains & Families for HPRT1 Gene
Gene Families for HPRT1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- FDA approved drug targets
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for HPRT1 Gene
- InterPro:
- Blocks:
-
- Purine/pyrimidine phosphoribosyl transferase
- ProtoNet:
Suggested Antigen Peptide Sequences for HPRT1 Gene
- GenScript: Design optimal peptide antigens:
-
- Hypoxanthine-guanine phosphoribosyltransferase (HPRT_HUMAN)
- HPRT1 protein (Q6LET3_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P00492UniProtKB/Swiss-Prot:
HPRT_HUMAN :- Belongs to the purine/pyrimidine phosphoribosyltransferase family.
- Family:
-
- Belongs to the purine/pyrimidine phosphoribosyltransferase family.
Function for HPRT1 Gene
Molecular function for HPRT1 Gene
- UniProtKB/Swiss-Prot 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.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=diphosphate + IMP = 5-phospho-alpha-D-ribose 1-diphosphate + hypoxanthine; Xref=Rhea:RHEA:17973, ChEBI:CHEBI:17368, ChEBI:CHEBI:33019, ChEBI:CHEBI:58017, ChEBI:CHEBI:58053; EC=2.4.2.8; Evidence={ECO:0000269|PubMed:10338013, ECO:0000269|PubMed:19527031};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=diphosphate + GMP = 5-phospho-alpha-D-ribose 1-diphosphate + guanine; Xref=Rhea:RHEA:25424, ChEBI:CHEBI:16235, ChEBI:CHEBI:33019, ChEBI:CHEBI:58017, ChEBI:CHEBI:58115; EC=2.4.2.8; Evidence={ECO:0000269|PubMed:10338013, ECO:0000269|PubMed:19527031};.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=5.4 uM for IMP {ECO:0000269|PubMed:10338013}; KM=0.45 uM for hypoxanthine {ECO:0000269|PubMed:10338013}; KM=25 uM for pyrophosphate {ECO:0000269|PubMed:10338013}; KM=31 uM for phosphoribosylpyrophosphate {ECO:0000269|PubMed:10338013};
- GENATLAS Biochemistry:
- hypoxanthine phosphoribosyltransferase,purine salvage pathway
Enzyme Numbers (IUBMB) for HPRT1 Gene
Phenotypes From GWAS Catalog for HPRT1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0000287 | magnesium ion binding | IBA,IDA | 10360366 |
| GO:0004422 | hypoxanthine phosphoribosyltransferase activity | IBA,IDA | 6300847 |
| GO:0005515 | protein binding | IPI | 16189514 |
| GO:0016740 | transferase activity | IEA | -- |
Phenotypes for HPRT1 Gene
- MGI mutant phenotypes for HPRT1:
-
inferred from 188 alleles
- nervous system phenotype
- immune system phenotype
- respiratory system phenotype
- normal phenotype
- cardiovascular system phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- liver/biliary system phenotype
- renal/urinary system phenotype
- neoplasm
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- skeleton phenotype
- hematopoietic system phenotype
- integument phenotype
- embryo phenotype
- pigmentation phenotype
- craniofacial phenotype
- no phenotypic analysis
- taste/olfaction phenotype
- GenomeRNAi human phenotypes for HPRT1:
Animal Models for HPRT1 Gene
- MGI Knock Outs for HPRT1:
-
- Hprt Hprt<tm1.1Pobe>
- Hprt Hprt<tm1(Nfkb1-EGFP)Cjo>
- Hprt Hprt<tm5(Myh7-GFP,Myh6-CFP)Unc>
- Hprt Hprt<tm73(Ple142-lacZ)Ems>
- Hprt Hprt<tm1a(EUCOMM)Hmgu>
- Hprt Hprt<tm1(tetO-EGFP/Rac1*)Shaw>
- Hprt Hprt<tm1(CAG-Sox9,-EGFP)Akis>
- Hprt Hprt<tm2Brd>
- Hprt Hprt<tm10(VWF-lacZ)Aird>
- Hprt Hprt<tm11Aird>
- Hprt Hprt<tm1(Penk1-lacZ)Saub>
- Hprt Hprt<tm1(tetO-lacZ)Frje>
- Hprt Hprt<tm1(Trp53RE-EGFP)Dpl>
- Hprt Hprt<tm2(Penk1-lacZ)Saub>
- Hprt Hprt<tm2(Trp53RE-EGFP)Dpl>
- Hprt Hprt<tm3(ROBO4-lacZ)Aird>
- Hprt Hprt<tm4(CAG-DsRed)Brd>
- Hprt Hprt<tm5(RCAN1-lacZ)Aird>
- Hprt Hprt<tm6(VWF-lacZ)Aird>
- Hprt Hprt<tm7(VWF-lacZ)Aird>
- Hprt Hprt<tm87(Ple15-lacZ)Ems>
- Hprt Hprt<tm8(VWF-lacZ)Aird>
- Hprt Hprt<tm9(VWF-lacZ)Aird>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for HPRT1 - Select products 50% OFF >
- * HPRT1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for HPRT1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HPRT1
-
Santa Cruz Biotechnology (SCBT) CRISPR for HPRT1
miRNA for HPRT1 Gene
- miRTarBase miRNAs that target HPRT1
-
- hsa-miR-193b-3p (MIRT016412)
- hsa-miR-34a-5p (MIRT025379)
- hsa-miR-30c-5p (MIRT048012)
- hsa-miR-577 (MIRT108861)
- hsa-miR-548k (MIRT108863)
- hsa-miR-4509 (MIRT108866)
- hsa-miR-4744 (MIRT108868)
- hsa-miR-548av-5p (MIRT108869)
- hsa-miR-8054 (MIRT108872)
- hsa-miR-19a-3p (MIRT108873)
- hsa-miR-19b-3p (MIRT108874)
- hsa-miR-130a-3p (MIRT108877)
- hsa-miR-301a-3p (MIRT108879)
- hsa-miR-130b-3p (MIRT108880)
- hsa-miR-454-3p (MIRT108885)
- hsa-miR-301b-3p (MIRT108886)
- hsa-miR-4295 (MIRT108887)
- hsa-miR-3666 (MIRT108889)
- hsa-miR-4671-3p (MIRT108890)
- hsa-miR-576-5p (MIRT556984)
- hsa-miR-4263 (MIRT556985)
- hsa-miR-4799-5p (MIRT556986)
- hsa-miR-548l (MIRT556987)
- hsa-miR-559 (MIRT556988)
- hsa-miR-548y (MIRT556989)
- hsa-miR-548w (MIRT556990)
- hsa-miR-548o-5p (MIRT556991)
- hsa-miR-548j-5p (MIRT556992)
- hsa-miR-548i (MIRT556993)
- hsa-miR-548h-5p (MIRT556994)
- hsa-miR-548d-5p (MIRT556995)
- hsa-miR-548c-5p (MIRT556996)
- hsa-miR-548bb-5p (MIRT556997)
- hsa-miR-548b-5p (MIRT556998)
- hsa-miR-548ay-5p (MIRT556999)
- hsa-miR-548au-5p (MIRT557000)
- hsa-miR-548as-5p (MIRT557001)
- hsa-miR-548ar-5p (MIRT557002)
- hsa-miR-548aq-5p (MIRT557003)
- hsa-miR-548ap-5p (MIRT557004)
- hsa-miR-548am-5p (MIRT557005)
- hsa-miR-548ak (MIRT557006)
- hsa-miR-548ae-5p (MIRT557007)
- hsa-miR-548ad-5p (MIRT557008)
- hsa-miR-548ab (MIRT557009)
- hsa-miR-548a-5p (MIRT557010)
- hsa-miR-4282 (MIRT557011)
- hsa-miR-651-5p (MIRT571981)
- hsa-miR-107 (MIRT571982)
- hsa-miR-103a-3p (MIRT571983)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HPRT1
- Browse OriGene Inhibitory RNA Products For HPRT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HPRT1
Clone Products
- Applied Biological Materials (abm): Clones for HPRT1 - Select products 50% OFF >
- * HPRT1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for HPRT1
- Sino Biological Human cDNA Clone for HPRT1
- Addgene plasmids for HPRT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HPRT1
Cell Line Products
-
Horizon Cell Lines for HPRT1
No data available for Transcription Factor Targets and HOMER Transcription for HPRT1 Gene
Localization for HPRT1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for HPRT1 Gene
- Cytoplasm.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| cytosol | 5 |
| nucleus | 4 |
| plasma membrane | 3 |
| cytoskeleton | 3 |
| mitochondrion | 3 |
| peroxisome | 2 |
| endoplasmic reticulum | 2 |
| endosome | 2 |
| lysosome | 2 |
| golgi apparatus | 2 |
- Cytosol (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA,IDA | 6300847 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0070062 | extracellular exosome | HDA | 20458337 |
Pathways & Interactions for HPRT1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism of nucleotides |
.01
|
|
| 2 | Metabolism |
.40
|
|
| 3 | Mesodermal Commitment Pathway | ||
| 4 | Drug metabolism - cytochrome P450 | ||
| 5 | Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics | ||
Pathways by source for HPRT1 Gene
6 BioSystems pathways for HPRT1 Gene
4 Reactome pathways for HPRT1 Gene
1 PharmGKB pathway for HPRT1 Gene
3 KEGG pathways for HPRT1 Gene
1 GeneGo (Thomson Reuters) pathway for HPRT1 Gene
- ATP/ITP metabolism
UniProtKB/Swiss-Prot P00492-HPRT_HUMAN
- Pathway: Purine metabolism; IMP biosynthesis via salvage pathway; IMP from hypoxanthine: step 1/1.
Interacting Proteins for HPRT1 Gene
Selected Interacting proteins:
P00492-HPRT_HUMAN
ENSP00000298556
for HPRT1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for HPRT1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001913 | T cell mediated cytotoxicity | IEA | -- |
| GO:0001975 | response to amphetamine | IEA | -- |
| GO:0006164 | purine nucleotide biosynthetic process | IMP | 9824441 |
| GO:0006166 | purine ribonucleoside salvage | IBA,IMP | 9824441 |
| GO:0006168 | adenine salvage | IBA | 21873635 |
No data available for SIGNOR curated interactions for HPRT1 Gene
Drugs & Compounds for HPRT1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Mercaptopurine | Approved | Pharma | Target, inhibitor | 232 | ||
| Azathioprine | Approved | Pharma | Enzyme, substrate | 227 | ||
| Thioguanine | Approved | Pharma | Enzyme, substrate | Purine antimetabolite | 89 | |
| Mycophenolic acid | Approved | Pharma | 1097 | |||
| Adenine | Approved | Nutra | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| pyrophosphate |
|
14000-31-8 | ||||
| 6-Methylmercaptopurine |
|
|
||||
| 6-Methylthiopurine 5'-monophosphate ribonucleotide |
|
7021-52-5 |
|
|||
| 6-Thioguanosine monophosphate |
|
|
||||
| 6-Thioinosine-5'-monophosphate |
|
|
Transcripts for HPRT1 Gene
mRNA/cDNA for HPRT1 Gene
- 1 REFSEQ mRNAs :
- 11 NCBI additional mRNA sequence :
- 3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000298556 1395 nts (view in UCSC)
- ENST00000462974 724 nts (view in UCSC)
- ENST00000475720 599 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for HPRT1 - Select products 50% OFF >
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for HPRT1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HPRT1
-
Santa Cruz Biotechnology (SCBT) CRISPR for HPRT1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HPRT1
- Browse OriGene Inhibitory RNA Products For HPRT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HPRT1
Clone Products
- Applied Biological Materials (abm): Clones for HPRT1 - Select products 50% OFF >
- * HPRT1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for HPRT1
- Sino Biological Human cDNA Clone for HPRT1
- Addgene plasmids for HPRT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HPRT1
Relevant External Links for HPRT1 Gene
- GeneLoc Exon Structure for
- HPRT1
Expression for HPRT1 Gene
This gene is overexpressed in Brain (6.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HPRT1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HPRT1
SOURCE GeneReport for Unigene cluster for HPRT1 Gene:
Hs.412707Evidence on tissue expression from TISSUES for HPRT1 Gene
- Nervous system(4.8)
- Liver(4.7)
- Spleen(3.4)
- Kidney(3.3)
- Blood(3.3)
- Heart(3.3)
- Bone marrow(3.2)
- Muscle(3.2)
- Skin(3.2)
- Intestine(3.1)
- Lung(3.1)
- Lymph node(3.1)
- Stomach(2.7)
- Pancreas(2.7)
- Thyroid gland(2.7)
- Adrenal gland(2.5)
- Eye(2.5)
- Bone(2.4)
Phenotype-based relationships between genes and organs from Gene ORGANizer for HPRT1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- reproductive
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- head
- mouth
- pharynx
Thorax:
- esophagus
Abdomen:
- kidney
- stomach
Pelvis:
- testicle
- ureter
- urinary bladder
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- blood
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
- spinal cord
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for HPRT1
-
OriGene qPCR primer pairs and template standards for HPRT1
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for HPRT1 Gene
Orthologs for HPRT1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | HPRT1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | HPRT1 30 |
|
||
| HPRT 31 |
|
OneToOne | |||
| Cow (Bos Taurus) |
Mammalia | HPRT1 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| LOC510369 30 |
|
||||
| -- 31 |
|
OneToMany | |||
| Mouse (Mus musculus) |
Mammalia | Hprt 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Hprt1 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | HPRT1 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| Chicken (Gallus gallus) |
Aves | HPRT1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | HPRT1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hprt1 30 |
|
||
| MGC76223 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | hprt1 30 31 |
|
OneToOne | |
| Dr.1668 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9341 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | CELE_Y105E8B.5 30 |
|
||
| Y105E8B.5 31 32 |
|
OneToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4587 30 |
|
- Species where no ortholog for HPRT1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for HPRT1 Gene
- ENSEMBL:
- Gene Tree for HPRT1 (if available)
- TreeFam:
- Gene Tree for HPRT1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for HPRT1: view image
Paralogs for HPRT1 Gene
(1) SIMAP similar genes for HPRT1 Gene using alignment to 2 proteins:
- HPRT_HUMAN
- Q6LET3_HUMAN
Pseudogenes.org Pseudogenes for HPRT1 Gene
Variants for HPRT1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HPRT1 Gene
| SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 10032 | Pathogenic: Lesch-Nyhan syndrome | 134,473,386(+) | C/CT | NONSENSE | |
| 10077 | Pathogenic: Lesch-Nyhan syndrome | 134,493,591(+) | G/A | SPLICE_DONOR_VARIANT | |
| 10078 | Pathogenic: Lesch-Nyhan syndrome | 134,473,401(+) | A/AT | FRAMESHIFT_VARIANT | |
| 645956 | Pathogenic: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency; Lesch-Nyhan syndrome | 134,486,463(+) | A/G | SPLICE_ACCEPTOR_VARIANT | |
| 652617 | Uncertain Significance: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency; Lesch-Nyhan syndrome | 134,500,067(+) | AC/A | NONSENSE |
Residual Variation Intolerance Score:
42% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.13;
2.99% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for HPRT1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HPRT1 Gene
Disorders for HPRT1 Gene
(43) MalaCards diseases for HPRT1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| lesch-nyhan syndrome |
|
|
| kelley-seegmiller syndrome |
|
|
| gout |
|
|
| hyperuricemia |
|
|
| nephrolithiasis, uric acid |
|
Search HPRT1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
HPRT_HUMAN- Lesch-Nyhan syndrome (LNS) [MIM:300322]: Characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, mental retardation, and compulsive self-mutilation. {ECO:0000269 PubMed:15571223, ECO:0000269 PubMed:17027311, ECO:0000269 PubMed:20544509, ECO:0000269 PubMed:2071157, ECO:0000269 PubMed:2246854, ECO:0000269 PubMed:2347587, ECO:0000269 PubMed:2358296, ECO:0000269 PubMed:24940672, ECO:0000269 PubMed:2572141, ECO:0000269 PubMed:2910902, ECO:0000269 PubMed:3265398, ECO:0000269 PubMed:3384338, ECO:0000269 PubMed:6853716, ECO:0000269 PubMed:7627191, ECO:0000269 PubMed:9452051}. 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. {ECO:0000269 PubMed:15571223, ECO:0000269 PubMed:17027311, ECO:0000269 PubMed:20544509, ECO:0000269 PubMed:24940672, ECO:0000269 PubMed:2896620, ECO:0000269 PubMed:2909537, ECO:0000269 PubMed:3198771, ECO:0000269 PubMed:3358423, ECO:0000269 PubMed:6572373, ECO:0000269 PubMed:6706936, ECO:0000269 PubMed:6853490, ECO:0000269 PubMed:7987318}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genatlas disease for HPRT1 Gene
Lesch Nyhan syndrome,including severe juvenile gout
Additional Disease Information for HPRT1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
Publications for HPRT1 Gene
- Genetic variations in the HGPRT, ITPA, IMPDH1, IMPDH2, and GMPS genes in Japanese individuals. (PMID: 20045992) Kudo M … Hiratsuka M (Drug metabolism and pharmacokinetics 2009) 3 23 41
- Mutagenicity and potential carcinogenicity of thiopurine treatment in patients with inflammatory bowel disease. (PMID: 19706768) Nguyen T … Finette BA (Cancer research 2009) 3 23 41
- Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations. (PMID: 17027311) Yamada Y … Wakamatsu N (Molecular genetics and metabolism 2007) 3 4 23
- Sequential evaluation of thiopurine methyltransferase, inosine triphosphate pyrophosphatase, and HPRT1 genes polymorphisms to explain thiopurines' toxicity and efficacy. (PMID: 17697207) Palmieri O … Annese V (Alimentary pharmacology & therapeutics 2007) 3 23 41
- The crystal structure of free human hypoxanthine-guanine phosphoribosyltransferase reveals extensive conformational plasticity throughout the catalytic cycle. (PMID: 15990111) Keough DT … Guddat LW (Journal of molecular biology 2005) 3 4 23
ExternalLinks
Products for HPRT1 Gene
- Custom Antibody ServicesOriGene Antibodies for HPRT1
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for HPRT1
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals proteins and lysates for HPRT1
- Browse Antibodies
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- Browse Primary Antibodies
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- VectorBuilder Custom and pre-made DNA vectors for HPRT1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for HPRT1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for HPRT1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for HPRT1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for HPRT1
- Addgene plasmids for HPRT1
- antibodies-online: Show 59 available HPRT1 Antibodies ranked by validation data
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- antibodies-online: Show 19 available HPRT1 Elisa Kits ranked by validation data
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- antibodies-online: Show 30 available HPRT1 Proteins ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for HPRT1
- Search Santa Cruz Biotechnology (SCBT) for HPRT1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for HPRT1
- Search for HPRT1 Antibodies at ProSci
- Custom Antibody Services
- ProSci Proteins for HPRT1
- Horizon Cell Lines for HPRT1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HPRT1
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- Search GeneCopoeia for miRNA 3'UTR Target clone products for HPRT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HPRT1
Sources for HPRT1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB