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Gene: HPRT1 (hypoxanthine phosphoribosyltransferase 1) Homo sapiens
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Symbol: HPRT1
Name: hypoxanthine phosphoribosyltransferase 1
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: HGPRT; HGPRTase; HPRT; hypoxanthine guanine phosphoribosyl transferase; hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome); hypoxanthine-guanine phosphoribosyltransferase; hypoxanthine-guanine phosphoribosyltransferase 1; testicular tissue protein Li 89
Orthologs:
Mus musculus (house mouse) : Hprt (hypoxanthine guanine phosphoribosyl transferase)  MGI  Alliance
Rattus norvegicus (Norway rat) : Hprt1 (hypoxanthine phosphoribosyltransferase 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Hprt1 (hypoxanthine phosphoribosyltransferase 1)
Pan paniscus (bonobo/pygmy chimpanzee) : HPRT1 (hypoxanthine phosphoribosyltransferase 1)
Canis lupus familiaris (dog) : HPRT1 (hypoxanthine phosphoribosyltransferase 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Hprt1 (hypoxanthine phosphoribosyltransferase 1)
Sus scrofa (pig) : HPRT1 (hypoxanthine phosphoribosyltransferase 1)
more info ...
Related Pseudogenes: HPRT1P1   HPRT1P2   HPRT1P3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X134,460,145 - 134,500,668 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X133,594,175 - 133,634,698 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X133,421,923 - 133,462,362 (+)NCBINCBI36hg18NCBI36
Build 34X133,319,776 - 133,360,216NCBI
CeleraX133,981,004 - 134,021,522 (+)NCBI
Cytogenetic MapXq26.2-q26.3NCBI
HuRefX122,992,617 - 123,032,595 (+)NCBIHuRef
CHM1_1X133,505,941 - 133,546,459 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on HPRT1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 731296
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-06-18
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.