Gene
hprt1
- ID
- ZDB-GENE-040426-1918
- Name
- hypoxanthine phosphoribosyltransferase 1
- Symbol
- hprt1 Nomenclature History
- Previous Names
-
- id:ibd1344
- id:ibd5108
- wu:fc10g09
- zgc:56221 (1)
- zgc:86608
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to enable hypoxanthine phosphoribosyltransferase activity and magnesium ion binding activity. Predicted to be involved in hypoxanthine metabolic process and purine-containing compound salvage. Predicted to act upstream of or within purine ribonucleoside salvage. Predicted to be located in cytoplasm. Predicted to be active in cytosol. Is expressed in several structures, including digestive system; immature eye; midbrain; musculature system; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in HRPT-related hyperuricemia and Lesch-Nyhan syndrome. Orthologous to human HPRT1 (hypoxanthine phosphoribosyltransferase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
No data available
No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| HRPT-related hyperuricemia | Alliance | Hyperuricemia, HRPT-related | 300323 |
| Lesch-Nyhan syndrome | Alliance | Lesch-Nyhan syndrome | 300322 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Hypoxanthine-guanine phosphoribosyltransferase | Hypoxanthine phosphoribosyl transferase | Phosphoribosyltransferase domain | Phosphoribosyltransferase-like |
|---|---|---|---|---|---|---|
| UniProtKB:Q7ZV49 | InterPro | 218 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-100E19 | ZFIN Curated Data | |
| Encodes | EST | fc10g09 | ||
| Encodes | EST | ibd1344 | ZFIN Curated Data | |
| Encodes | EST | ibd5108 | ||
| Encodes | cDNA | MGC:56221 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:86608 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_212986 (1) | 1813 nt | ||
| Genomic | GenBank:BX511227 (1) | 262038 nt | ||
| Polypeptide | UniProtKB:Q7ZV49 (1) | 218 aa |
- Abdel-Hamid, M.S., Paimboeuf, A., Zaki, M.S., Figueiredo, F., Abdel-Ghafar, S.F., Maher, S., Friðriksdóttir, R., Sulem, P., Högnason, H.B., Hallgrímsdóttir, S., Rojas, C.F.N., Kok, F., Suri, M., Alves, C.A.P.F., Houlden, H., Maroofian, R., Patten, S.A. (2025) Biallelic variants in GTF3C3 encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish. Brain communications. 7:fcaf055fcaf055
- Makrogkikas, S., Cheng, R.K., Lu, H., Roy, S. (2023) A conserved function of Pkhd1l1, a mammalian hair cell stereociliary coat protein, in regulating hearing in zebrafish. Journal of neurogenetics. 37(3):85-92
- Morgan, K.J., Doggett, K., Geng, F., Mieruszynski, S., Whitehead, L., Smith, K.A., Hogan, B.M., Simons, C., Baillie, G.J., Molania, R., Papenfuss, A.T., Hall, T.E., Ober, E.A., Stainier, D.Y.R., Gong, Z., Heath, J.K. (2023) ahctf1 and kras mutations combine to amplify oncogenic stress and restrict liver overgrowth in a zebrafish model of hepatocellular carcinoma. eLIFE. 12:
- Withers, S.E., Rowlands, C.F., Tapia, V.S., Hedley, F., Mosneag, I.E., Crilly, S., Rice, G.I., Badrock, A.P., Hayes, A., Allan, S.M., Briggs, T.A., Kasher, P.R. (2023) Characterization of a mutant samhd1 zebrafish model implicates dysregulation of cholesterol biosynthesis in Aicardi-Goutières syndrome. Frontiers in immunology. 14:11009671100967
- Rana, A.K., Sharma, S., Saini, S.K., Singh, D. (2022) Rutin protects hemorrhagic stroke development via supressing oxidative stress and inflammatory events in a zebrafish model. European Journal of Pharmacology. 925:174973
- Ursu, R., Sopel, N., Ohs, A., Tati, R., Buvall, L., Nyström, J., Schiffer, M., Müller-Deile, J. (2022) Glomerular Endothelial Cell-Derived miR-200c Impairs Glomerular Homeostasis by Targeting Podocyte VEGF-A. International Journal of Molecular Sciences. 23(23):
- Bastos de Oliveira, M., Meier, K., Jung, S., Bartels-Klein, E., Coxam, B., Geudens, I., Szymborska, A., Skoczylas, R., Fechner, I., Koltowska, K., Gerhardt, H. (2021) Vasohibin-1 selectively regulates secondary sprouting and lymphangiogenesis in the zebrafish trunk. Development (Cambridge, England). 148(4):
- Rajan, V., Collett, K., Woodside, R., Prykhozhij, S.V., Moksa, M., Carles, A., Wong, M., Liebman, M., Hirst, M., Berman, J.N. (2021) Stress hematopoiesis induces a proliferative advantage in TET2 deficiency. Leukemia. 36(3):809-820
- Crispin, A., Guo, C., Chen, C., Campagna, D.R., Schmidt, P.J., Lichtenstein, D.A., Cao, C., Sendamarai, A.K., Hildick-Smith, G.J., Huston, N.C., Boudreaux, J., Bottomley, S.S., Heeney, M.M., Paw, B.H., Fleming, M.D., Ducamp, S. (2020) Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia. The Journal of Clinical Investigation. 130(10):5245-5256
- den Broeder, M.J., Ballangby, J., Kamminga, L.M., Aleström, P., Legler, J., Lindeman, L.C., Kamstra, J.H. (2020) Inhibition of methyltransferase activity of enhancer of zeste 2 leads to enhanced lipid accumulation and altered chromatin status in zebrafish. Epigenetics & chromatin. 13:5
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