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 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:133594175-133634698 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human HPRT1

Alleles and phenotypes

All alleles(423) : Targeted(395) Gene trapped(25) Transgenic(2) Spontaneous(1)
 

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(1)

Gene Ontology (GO) classifications

All GO classifications: (53 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 Type	Results
RNA in situ	254
RT-PCR	50

cDNA source data(184)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(216) Genomic(20) cDNA(185) Primer pair(9) Other(2)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000017356 (Evidence)
Ensembl Gene Model	ENSMUSG00000025630 (Evidence)
Entrez Gene	15452 (Evidence)
UniGene	299381
DFCI	TC1571994, TC1753211
DoTS	DT.536713
NIA Mouse Gene Index	U117487
EC	2.4.2.8
Consensus CDS Project	CCDS40972.1
International Mouse Knockout Project Status	Hprt

Sequences

Length	Strain/Species
genomic	OTTMUSG00000017356	VEGA Gene Model | MGI Sequence Detail	33523	C57BL/6J
transcript	OTTMUST00000042141	VEGA | MGI Sequence Detail	1289	Not Applicable
polypeptide	OTTMUSP00000018945	VEGA | MGI Sequence Detail	218	Not Applicable

All sequences(46) RefSeq(2) UniProt(4)

Polymorphisms

All PCR and RFLP(11) : PCR(3) RFLP(8) SNPs(118 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:194462 Belkina AC, et al., BET Protein Function Is Required for Inflammation: Brd2 Genetic Disruption and BET Inhibitor JQ1 Impair Mouse Macrophage Inflammatory Responses. J Immunol. 2013 Apr 1;190(7):3670-8
All references(368)

Other accession IDs

MGD-MRK-10922, MGI:2148073