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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 in Lesch-Nyhan syndrome or gout.[provided by RefSeq, Jun 2009]
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.
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 |
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 | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IDA | 6300847 |
GO:0005829 | cytosol | TAS | -- |
GO:0070062 | extracellular exosome | HDA | 20458337 |
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 |
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 |
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 |
|
|
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 |
|
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
lesch-nyhan syndrome |
|
|
kelley-seegmiller syndrome |
|
|
gout |
|
|
hyperuricemia |
|
|
nephrolithiasis, uric acid |
|