HPRT1 - hypoxanthine phosphoribosyltransferase 1 Gene
Also Known as HPRT; HGPRT
Species: Homo sapiens
About HPRT1
This gene has 3 transcripts (splice variants), 257 orthologues, 6 paralogues and is associated with 5 phenotypes. Broad expression in testis (RPKM 45.9), brain (RPKM 28.9) and 25 other tissues.
Summary
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 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_000194.3 | NP_000185.1 | hypoxanthine-guanine phosphoribosyltransferase |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables guanine phosphoribosyltransferase activity |
IDA
IDA: Inferred from direct assay
|
4208686 | GOA |
| enables hypoxanthine phosphoribosyltransferase activity |
IDA
IDA: Inferred from direct assay
|
6300847 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
8044844 | GOA |
| enables magnesium ion binding |
IDA
IDA: Inferred from direct assay
|
10360366 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
16189514 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in GMP catabolic process |
IDA
IDA: Inferred from direct assay
|
19527031 | GOA |
| involved in GMP salvage |
IDA
IDA: Inferred from direct assay
|
4208686 | GOA |
| involved in IMP metabolic process |
IDA
IDA: Inferred from direct assay
|
19527031 | GOA |
| involved in guanine salvage |
IDA
IDA: Inferred from direct assay
|
19527031 | GOA |
| involved in hypoxanthine metabolic process |
IMP
IMP: Inferred from mutant phenotype
|
9824441 | GOA |
| involved in hypoxanthine salvage |
IDA
IDA: Inferred from direct assay
|
19527031 | GOA |
| involved in positive regulation of dopamine metabolic process |
IMP
IMP: Inferred from mutant phenotype
|
8643611 | GOA |
| involved in protein homotetramerization |
IPI
IPI: Inferred from physical interaction
|
15990111 | GOA |
| involved in purine nucleotide biosynthetic process |
IMP
IMP: Inferred from mutant phenotype
|
9824441 | GOA |
| involved in purine ribonucleoside salvage |
IMP
IMP: Inferred from mutant phenotype
|
9824441 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
6300847 | GOA |
HPRT1 Protein Structure
Pribosyltran: Phosphoribosyl transferase domain (37 - 163)
- 0
- 100
- 200
- 218 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
hypoxanthine-guanine phosphoribosyltransferase |
|
HPRT1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
HPRT1 | P00492 | SREK1IP1 | Homo sapiens | Q8N9Q2 | 32296183 | |
|
Intra
|
HPRT1 | P00492 | ISCU | Homo sapiens | Q9H1K1 | 25416956 | |
|
Intra
|
HPRT1 | P00492 | EFCAB3 | Homo sapiens | Q8N7B9-2 | 32296183 | |
|
Intra
|
HPRT1 | P00492 | HTT | Homo sapiens | P42858 | 32814053 | |
|
Intra
|
HPRT1 | P00492 | HTT | Homo sapiens | P42858 | 32814053 | |
|
Intra
|
HPRT1 | P00492 | HTT | Homo sapiens | P42858 | 32814053 | |
|
Intra
|
HPRT1 | P00492 | SPRED1 | Homo sapiens | Q7Z699 | 32814053 | |
|
Intra
|
HPRT1 | P00492 | SPRED1 | Homo sapiens | Q7Z699 | 32814053 | |
|
Intra
|
HPRT1 | P00492 | SPRED1 | Homo sapiens | Q7Z699 | 32814053 | |
|
Intra
|
HPRT1 | P00492 | SDCBP | Homo sapiens | O00560 | 25416956 | |
|
Intra
|
HPRT1 | P00492 | PRTFDC1 | Homo sapiens | Q9NRG1 | 25910212 | |
|
Intra
|
HPRT1 | P00492 | PRTFDC1 | Homo sapiens | Q9NRG1 | 32296183 | |
|
Intra
|
HPRT1 | P00492 | PRTFDC1 | Homo sapiens | Q9NRG1 | 16189514 | |
|
Intra
|
HPRT1 | P00492 | PRTFDC1 | Homo sapiens | Q9NRG1 | 33961781 | |
|
Intra
|
HPRT1 | P00492 | PRTFDC1 | Homo sapiens | Q9NRG1 | 25910212 | |
|
Intra
|
HPRT1 | P00492 | PRTFDC1 | Homo sapiens | Q9NRG1 | 25416956 | |
|
Intra
|
HPRT1 | P00492 | PRTFDC1 | Homo sapiens | Q9NRG1 | 25910212 | |
|
Intra
|
HPRT1 | P00492 | PRTFDC1 | Homo sapiens | Q9NRG1 | 32296183 | |
|
Intra
|
HPRT1 | P00492 | PRTFDC1 | Homo sapiens | Q9NRG1 | 32296183 | |
|
Intra
|
HPRT1 | P00492 | NTAQ1 | Homo sapiens | Q96HA8 | 32296183 | |
|
Intra
|
HPRT1 | P00492 | NTAQ1 | Homo sapiens | Q96HA8 | 25416956 | |
|
Intra
|
HPRT1 | P00492 | NTAQ1 | Homo sapiens | Q96HA8 | 16189514 | |
|
Intra
|
HPRT1 | P00492 | NTAQ1 | Homo sapiens | Q96HA8 | 25416956 | |
|
Intra
|
HPRT1 | P00492 | SPG21 | Homo sapiens | Q9NZD8 | 32296183 | |
|
Intra
|
HPRT1 | P00492 | GNMT | Homo sapiens | Q14749 | 32296183 | |
|
Intra
|
HPRT1 | P00492 | EEF2KMT | Homo sapiens | Q96G04 | 32296183 | |
|
Intra
|
HPRT1 | P00492 | HPRT1 | Homo sapiens | P00492 | 31515488 | |
|
Intra
|
HPRT1 | P00492 | HPRT1 | Homo sapiens | P00492 | 25502805 | |
|
Intra
|
HPRT1 | P00492 | HPRT1 | Homo sapiens | P00492 | 25416956 |
Recombinant HPRT1 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P70227 | HGPRT Protein, Human (His) | P00492 (M1-A218) | ≥ 90%, as determined by reducing SDS-PAGE. |
HPRT1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P83255 | HPRT Antibody (YA3000) | WB, IP | Human, Rat |
| HY-P83889 | HPRT Antibody (YA3586) | WB, IHC-P, FC, ELISA | Human |
| HY-P83889A | HPRT Antibody (YA3586)(PBS only) | WB, IHC-P, FC, ELISA | Human |
| HY-P85202 | HPRT Antibody (YA4894) | WB, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Lesch-Nyhan Syndrome |
|
|
| Hyperuricemia, Hprt-Related |
|
|
| Gout |
|
|
| Hyperuricemia |
|
|
| Nephrolithiasis, Uric Acid |
|
|
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
|
| Purine-Pyrimidine Metabolic Disorder |
|
|
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
|
| Disorder Of Purine Metabolism |
|
|
| Cockayne Syndrome |
|
|
| Bloom Syndrome |
|
|
| Nephrolithiasis |
|
|
| Hypouricemia, Renal, 1 |
|
|
| Xeroderma Pigmentosum, Variant Type |
|
|
| Teratocarcinoma |
|
|
| Urolithiasis |
|
|
| Ataxia-Telangiectasia |
|
|
| Incontinentia Pigmenti |
|
|
| Adenine Phosphoribosyltransferase Deficiency |
|
|
| Immunodeficiency With Hyper-Igm, Type 1 |
|
|
| Paroxysmal Nocturnal Hemoglobinuria |
|
|
| Purine Nucleoside Phosphorylase Deficiency |
|
|
| Connective Tissue Disease |
|
|
| Fanconi Anemia, Complementation Group A |
|
|
| Xanthinuria |
|
|
| Lynch Syndrome |
|
|
| Fragile X Syndrome |
|
|
| Arts Syndrome |
|
|
| Deafness, Autosomal Recessive 40 |
|
|
| Deafness, Autosomal Recessive 55 |
|
|
| Dissociated Nystagmus |
|
|
| Rett Syndrome |
|
|
| Movement Disease |
|
|
| Dystonia |
|
|
| Inflammatory Bowel Disease 16 |
|
|
| Colorectal Cancer |
|
|
| Aplastic Anemia |
|
|
| Leukemia, Acute Lymphoblastic |
|
|
| Systemic Lupus Erythematosus |
|
|
| Deficiency Anemia |
|
|
| Syndromic Intellectual Disability |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
| Nervous System Disease |
|
|
| Retinitis Pigmentosa |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | HPRT1 | MGD | MGI:96217 |
| Canis familiaris | HPRT1 | VGNC | VGNC:41773 |
| Rattus norvegicus | HPRT1 | RGD | RGD:2826 |
| Macaca mulatta | HPRT1 | VGNC | VGNC:73514 |
| Others | HPRT1 | NCBI |