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Gene: HPRT1 (hypoxanthine phosphoribosyltransferase 1) Homo sapiens
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Symbol: HPRT1
Name: hypoxanthine phosphoribosyltransferase 1
Description: Exhibits magnesium ion binding activity; protein homodimerization activity; and purine phosphoribosyltransferase activity. Involved in nucleobase-containing small molecule metabolic process; positive regulation of dopamine metabolic process; and protein homotetramerization. Localizes to the cytosol. Implicated in Lesch-Nyhan syndrome.
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)
Chlorocebus sabaeus (African green monkey) : HPRT1 (hypoxanthine phosphoribosyltransferase 1)
Heterocephalus glaber (naked mole-rat) : 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
GRCh38 EnsemblX134,460,165 - 134,520,513 (+)Ensembl
GRCh38X134,460,165 - 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
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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
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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

RGD Object Information
RGD ID: 731296
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2020-02-18
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.