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 Kelley-Seegmiller Syndrome and Lesch-Nyhan Syndrome. Among its related pathways are Mesodermal Commitment Pathway and Drug metabolism - cytochrome P450. 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 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
- Monarch Initiative
- Search for HPRT1 at DataMed
- Search for HPRT1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HPRT1 Gene
Genomics for HPRT1 Gene
GeneHancer (GH) Regulatory Elements 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 |
---|---|---|---|---|---|---|---|---|---|---|
GH0XI134459 | Promoter/Enhancer | 1.9 | EPDnew Ensembl ENCODE | 550.4 | +7.9 | 7857 | 2.2 | ATF1 ARNT SIN3A GLIS2 ATF7 REST ZNF592 HMBOX1 KDM1A SP7 | HPRT1 ZNF75D GC0XP134493 | |
GH0XI134470 | Enhancer | 0.3 | Ensembl | 0.4 | +17.3 | 17259 | 0.2 | MNT | HPRT1 GC0XP134493 | |
GH0XI134511 | Enhancer | 0.5 | ENCODE | 0.2 | +59.8 | 59836 | 2.4 | JUND RFX1 JUN PRDM10 FOSL2 FOS ZNF600 | PIR45670 RPL36AP54 HPRT1 | |
GH0XI134469 | Enhancer | 0.2 | Ensembl | 0.4 | +16.9 | 16859 | 0.2 | HPRT1 GC0XP134493 |
- Top Transcription factor binding sites by QIAGEN in the HPRT1 gene promoter:
Regulatory Element Products
Genomic Locations for HPRT1 Gene
- chrX:134,452,842-134,520,513
- (GRCh38/hg38)
- Size:
- 67,672 bases
- Orientation:
- Plus strand
- chrX:133,594,175-133,654,543
- (GRCh37/hg19)
Genomic View for HPRT1 Gene
- Cytogenetic band:
-
- Xq26.2 by Ensembl
- Xq26.2-q26.3 by Entrez Gene
- Xq26.2-q26.3 by HGNC


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
- Ubiquitination at isoforms=175
Other Protein References for HPRT1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for HPRT1
- Novus Biologicals Antibodies for HPRT1
-
Abcam antibodies for HPRT1
-
Cloud-Clone Corp. Antibodies for HPRT1
- Invitrogen Antibodies for HPRT1
- antibodies-online: Search results for 174 available HPRT1 Antibodies ranked by validation data
- Compare Top HPRT1 Antibodies
-
Recommended
- 12 IF (p) Antibodies (anti-rat)
- 21 WB Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-human)
- 2 RIA Antibodies (anti-human)
- 3 IHC Antibodies (anti-human)
- 4 FACS Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 143 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-mouse)
- 24 WB Antibodies (anti-mouse)
- GeneTex HPRT1 antibody for HPRT1
-
Santa Cruz Biotechnology (SCBT) Antibodies for HPRT1
Protein Products
-
OriGene Purified Proteins for HPRT1
- Search Origene for MassSpec and Protein Over-expression Lysates for HPRT1
- Origene Custom Protein Services for HPRT1
- ProSpec Recombinant Proteins for HPRT1
-
Cloud-Clone Corp. Proteins for HPRT1
- Search GeneTex for Proteins for HPRT1
-
ProSci Proteins for HPRT1
-
Abcam proteins for HPRT1
Assay Products
-
Cloud-Clone Corp. Assay Kits for HPRT1
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:
- ProtoNet:
Suggested Antigen Peptide Sequences for HPRT1 Gene
- GenScript: Design optimal peptide antigens:
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
- GENATLAS Biochemistry:
- hypoxanthine phosphoribosyltransferase,purine salvage pathway
- 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};
- UniProtKB/Swiss-Prot CatalyticActivity:
- IMP + diphosphate = hypoxanthine + 5-phospho-alpha-D-ribose 1-diphosphate.
- UniProtKB/Swiss-Prot CatalyticActivity:
- GMP + diphosphate = guanine + 5-phospho-alpha-D-ribose 1-diphosphate.
- 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.
Enzyme Numbers (IUBMB) for HPRT1 Gene
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 | EXP,IDA | 6300847 |
GO:0005515 | protein binding | IPI | 16189514 |
GO:0016740 | transferase activity | IEA | -- |
Phenotypes for HPRT1 Gene
- MGI mutant phenotypes for HPRT1:
-
inferred from 187 alleles
- nervous system phenotype
- normal phenotype
- homeostasis/metabolism phenotype
- respiratory system phenotype
- muscle phenotype
- cardiovascular system phenotype
- mortality/aging
- immune system phenotype
- cellular phenotype
- behavior/neurological phenotype
- growth/size/body region phenotype
- neoplasm
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- integument phenotype
- embryo phenotype
- hematopoietic system phenotype
- pigmentation phenotype
- renal/urinary system phenotype
- liver/biliary system 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 tm1(Nfkb1-EGFP)Cjo
- Hprt tm73(Ple142-lacZ)Ems
- Hprt tm5(Myh7-GFP,Myh6-CFP)Unc
- Hprt tm1.1Pobe
- Hprt tm1(tetO-EGFP/Rac1*)Shaw
- Hprt tm1a(EUCOMM)Hmgu
- Hprt tm2Brd
- Hprt tm1(CAG-Sox9,-EGFP)Akis
- Hprt tm1(Penk1-lacZ)Saub
- Hprt tm6(VWF-lacZ)Aird
- Hprt tm1(Trp53RE-EGFP)Dpl
- Hprt tm2(Trp53RE-EGFP)Dpl
- Hprt tm8(VWF-lacZ)Aird
- Hprt tm3(ROBO4-lacZ)Aird
- Hprt tm7(VWF-lacZ)Aird
- Hprt tm2(Penk1-lacZ)Saub
- Hprt tm1(tetO-lacZ)Frje
- Hprt tm87(Ple15-lacZ)Ems
- Hprt tm9(VWF-lacZ)Aird
- Hprt tm10(VWF-lacZ)Aird
- Hprt tm4(CAG-DsRed)Brd
- Hprt tm11Aird
- Hprt tm5(RCAN1-lacZ)Aird
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for HPRT1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HPRT1 gene
- Search ViGene Biosciences for HPRT1
CRISPR Products
-
OriGene CRISPR knockouts for HPRT1
- genomics-online: gRNA clones - Search results for 170 available HPRT1 gene related products
- Overview of 170 available HPRT1 gene related products
- Applied Biological Materials CRISPR for HPRT1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for HPRT1
- GenScript: Design CRISPR guide RNA sequences 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
- Search ViGene Biosciences for HPRT1
Inhibitory RNA Products
- Origene shrna, RNAi, and sirna products in human, mouse, rat for HPRT1
- Browse OriGene Inhibitory RNA Products For HPRT1
- genomics-online: shRNA clones - Search results for 170 available HPRT1 gene related products
- Overview of 170 available HPRT1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for HPRT1 gene
Clone Products
- Sino Biological Human cDNA Clone for HPRT1
- Sino Biological Human cDNA Clone for HPRT1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for HPRT1
- Applied Biological Materials Clones for HPRT1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for HPRT1
-
ViGene Biosciences adenoviral particle packaged cDNA for HPRT1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HPRT1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HPRT1 gene
No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for HPRT1 Gene
Localization for HPRT1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for HPRT1 Gene
- Cytoplasm.
- Cytosol (3)
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IDA | 6300847 |
GO:0005829 | cytosol | TAS | -- |
GO:0070062 | extracellular exosome | HDA,IDA | 20458337 |
Pathways & Interactions for HPRT1 Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Purine metabolism |
.01
|
|
2 | Metabolism |
.37
|
|
3 | Pyrimidine metabolism (KEGG) | ||
4 | Mesodermal Commitment Pathway | ||
5 | Drug metabolism - cytochrome P450 |
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
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
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001975 | response to amphetamine | IEA | -- |
GO:0006164 | purine nucleotide biosynthetic process | IMP | 9824441 |
GO:0006166 | purine ribonucleoside salvage | IMP | 9824441 |
GO:0006168 | adenine salvage | IEA | -- |
GO:0006178 | guanine salvage | IDA,IEA | 19527031 |
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 | 0 | ||
Azathioprine | Approved | Pharma | Target, inhibitor | 190 | ||
Thioguanine | Approved | Pharma | Enzyme, substrate | Purine antimetabolite | 83 | |
Mycophenolic acid | Approved | Pharma | 987 | |||
Adenine | Approved | Nutra | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
pyrophosphate |
|
14000-31-8 | ||||
6-Methylmercaptopurine |
|
|
||||
6-Methylthiopurine 5'-monophosphate ribonucleotide |
|
|
||||
6-Thioguanosine monophosphate |
|
|
||||
6-Thioinosine-5'-monophosphate |
|
|
Transcripts for HPRT1 Gene
mRNA/cDNA for HPRT1 Gene
- (1) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (275) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HPRT1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for HPRT1
- genomics-online: gRNA clones - Search results for 170 available HPRT1 gene related products
- Overview of 170 available HPRT1 gene related products
- Applied Biological Materials CRISPR for HPRT1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for HPRT1
- GenScript: Design CRISPR guide RNA sequences for HPRT1
miRNA Products
- Search ViGene Biosciences for HPRT1
Inhibitory RNA Products
- Origene shrna, RNAi, and sirna products in human, mouse, rat for HPRT1
- Browse OriGene Inhibitory RNA Products For HPRT1
- genomics-online: shRNA clones - Search results for 170 available HPRT1 gene related products
- Overview of 170 available HPRT1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for HPRT1 gene
Clone Products
- Sino Biological Human cDNA Clone for HPRT1
- Sino Biological Human cDNA Clone for HPRT1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for HPRT1
- Applied Biological Materials Clones for HPRT1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for HPRT1 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HPRT1 Gene
NURSA nuclear receptor signaling pathways regulating expression of HPRT1 Gene:
HPRT1SOURCE GeneReport for Unigene cluster for HPRT1 Gene:
Hs.412707Evidence on tissue expression from TISSUES for HPRT1 Gene
- Nervous system(4.7)
- Liver(4.6)
- Blood(2.9)
- Lung(2.9)
- Bone marrow(2.5)
- Kidney(2.5)
- Spleen(2.5)
- Skin(2.3)
- Heart(2.2)
- Intestine(2.2)
- Muscle(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for HPRT1 Gene
- ectoderm
- endoderm
- mesoderm
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- reproductive
- skeletal muscle
- skeleton
- urinary
- brain
- cerebellum
- cranial nerve
- head
- mouth
- pharynx
- esophagus
- kidney
- stomach
- testicle
- ureter
- urinary bladder
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
- 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
- genomics-online: primer clones - Search results for 170 available HPRT1 gene related products
- Overview of 170 available HPRT1 gene related 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 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | HPRT1 33 |
|
||
HPRT 34 |
|
OneToOne | |||
cow (Bos Taurus) |
Mammalia | HPRT1 34 |
|
OneToMany | |
-- 34 |
|
OneToMany | |||
LOC510369 33 |
|
||||
-- 34 |
|
OneToMany | |||
mouse (Mus musculus) |
Mammalia | Hprt 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Hprt1 33 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | HPRT1 34 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
-- 34 |
|
OneToMany | |||
-- 34 |
|
OneToMany | |||
-- 34 |
|
OneToMany | |||
chicken (Gallus gallus) |
Aves | HPRT1 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | HPRT1 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | hprt1 33 |
|
||
MGC76223 33 |
|
||||
zebrafish (Danio rerio) |
Actinopterygii | hprt1 33 34 |
|
||
Dr.1668 33 |
|
||||
rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9341 33 |
|
||
worm (Caenorhabditis elegans) |
Secernentea | CELE_Y105E8B.5 33 |
|
||
Y105E8B.5 35 34 |
|
||||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany | |
sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.4587 33 |
|
- Species where no ortholog for HPRT1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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)
Paralogs for HPRT1 Gene
(1) SIMAP similar genes for HPRT1 Gene using alignment to 2 proteins:
Pseudogenes.org Pseudogenes for HPRT1 Gene
Variants for HPRT1 Gene
SNP ID | Clin | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs137852477 | pathogenic, other, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT ANN ARBOR, Gout HPRT-related (GOUT-HPRT) [MIM:300323] | 134,490,199(+) | T/G | coding_sequence_variant, missense_variant | |
rs137852478 | pathogenic, other, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT ARLINGTON, Gout HPRT-related (GOUT-HPRT) [MIM:300323] | 134,475,285(+) | A/T | coding_sequence_variant, missense_variant | |
rs137852479 | pathogenic, other, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT ASHVILLE, Gout HPRT-related (GOUT-HPRT) [MIM:300323] | 134,498,677(+) | A/G | coding_sequence_variant, missense_variant | |
rs137852480 | pathogenic, other, Lesch-Nyhan syndrome, HPRT DETROIT, Lesch-Nyhan syndrome (LNS) [MIM:300322] | 134,473,453(+) | T/C | coding_sequence_variant, missense_variant | |
rs137852481 | pathogenic, other, Lesch-Nyhan syndrome, HPRT FLINT, Lesch-Nyhan syndrome (LNS) [MIM:300322] | 134,475,268(+) | C/A | coding_sequence_variant, missense_variant |
Additional Variant Information for HPRT1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HPRT1 Gene
Disorders for HPRT1 Gene

(24) MalaCards diseases for HPRT1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
Disorder | Aliases | PubMed IDs |
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kelley-seegmiller syndrome |
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lesch-nyhan syndrome |
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gout |
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hyperuricemia |
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purine-pyrimidine metabolic disorder |
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UniProtKB/Swiss-Prot
HPRT_HUMAN- 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.
- 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.
Genatlas disease for HPRT1 Gene
Additional Disease Information for HPRT1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 22 44 58
- Mutagenicity and potential carcinogenicity of thiopurine treatment in patients with inflammatory bowel disease. (PMID: 19706768) Nguyen T … Finette BA (Cancer research 2009) 3 22 44 58
- 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 22 58
- 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 22 44 58
- 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 22 58
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Sources for HPRT1 Gene
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