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Hprt
Gene Detail
 Symbol
Name
ID
Hprt
hypoxanthine guanine phosphoribosyl transferase
MGI:96217
STS DXMit22, DXMit23, DXNds1
Feature Type protein coding gene
Genetic Map
Chromosome X
29.31 cM, cytoband A6
Detailed Genetic Map ± 1 cM


Mapping data(98)
Sequence Map
ChrX:52988137-53021659 bp, + strand
From VEGA annotation of GRCm38

  33523 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:56590  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: hypoxanthine phosphoribosyltransferase
Gene Tree: Hprt

Human
homologs
Human Homolog HPRT1, hypoxanthine phosphoribosyltransferase 1
NCBI Gene ID 3251
neXtProt AC  NX_P00492
Human Synonyms  HGPRT, HPRT
Human Chr (Location)  Xq26.1; chrX:134460145-134500668 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human HPRT1
Mutations,
alleles, and
phenotypes
All mutations/alleles(480) : Gene trapped(25) Spontaneous(1) Targeted(452) Transgenic(2)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for null mutations exhibit a four to fivefold increase in de novo purine synthesis but are phenotypically normal.
 
Human Diseases Modeled Using Mouse Hprt (1)    Alleles Annotated to Human Diseases(4)    Phenotype Images(2)
Interactions
Hprt interacts with 119 markers (Mir16-1, Mir16-2, Mir17, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (52 annotations)
Process adenine metabolic process, adenine salvage, ...
Component cytoplasm, cytosol, ...
Function guanine phosphoribosyltransferase activity, hypoxanthine phosphoribosyltransferase activity, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (31 records)
Data Summary: Results (304)    Tissues (154)    Images (41)
Theiler Stages: 2, 3, 13, 19, 21, 22, 23, 25, 26, 28
Assay TypeResults
RNA in situ 254
RT-PCR 50
cDNA source data(193)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(225) Genomic(20) cDNA(194) Primer pair(9) Other(2)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000017356 (Evidence)
Ensembl Gene ModelENSMUSG00000025630 (Evidence)
Entrez Gene15452 (Evidence)
UniGene299381
DFCITC1571994, TC1753211
DoTSDT.536713
NIA Mouse Gene IndexU117487
EC2.4.2.8
Consensus CDS ProjectCCDS40972.1
International Mouse Knockout Project StatusHprt
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017356 VEGA Gene Model | MGI Sequence Detail 33523 C57BL/6J ±  kb
transcript OTTMUST00000042141 VEGA | MGI Sequence Detail 1289 Not Applicable 
polypeptide OTTMUSP00000018945 VEGA | MGI Sequence Detail 218 Not Applicable 

For the selected sequences
All sequences(45) RefSeq(2) UniProt(3)
Polymorphisms All PCR and RFLP(11) : PCR(3) RFLP(8) SNPs within 2kb(129 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR005904 Hypoxanthine phosphoribosyl transferase
InterPro IPR000836 Phosphoribosyltransferase domain
Protein Ontology PR:000008735 hypoxanthine-guanine phosphoribosyltransferase
References (Earliest) J:12173 Coleman DL, Effect of genic substitution on the incorporation of tyrosine into the melanin of mouse skin. Arch Biochem Biophys. 1962 Mar;96:562-8
(Latest) J:211324 Lapierre M, et al., RIP140 increases APC expression and controls intestinal homeostasis and tumorigenesis. J Clin Invest. 2014 May 1;124(5):1899-913
All references(422)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-10922, MGI:2148073

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/19/2014
MGI 5.19
The Jackson Laboratory