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 have hypoxanthine phosphoribosyltransferase activity and magnesium ion binding activity. Predicted to be involved in hypoxanthine metabolic process and purine-containing compound salvage. Predicted to localize to cytoplasm. 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
Expression
All Expression Data
8 figures from 5 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With hprt1 Human Ortholog
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
Associated With hprt1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000836 Phosphoribosyltransferase domain
Family IPR005904 Hypoxanthine phosphoribosyl transferase
Homologous_superfamily IPR029057 Phosphoribosyltransferase-like
Domain Details Per Protein
Protein Length Hypoxanthine phosphoribosyl transferase Phosphoribosyltransferase domain Phosphoribosyltransferase-like
UniProtKB:Q7ZV49 218
UniProtKB:A0A2R8QRE7 220
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations