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HPRT1 hypoxanthine phosphoribosyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 3251, updated on 7-Aug-2014
Official Symbol
HPRT1provided by HGNC
Official Full Name
hypoxanthine phosphoribosyltransferase 1provided by HGNC
Primary source
HGNC:5157
See related
Ensembl:ENSG00000165704; HPRD:02388; MIM:308000; Vega:OTTHUMG00000022452
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HPRT; HGPRT
Summary
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]
See HPRT1 in Epigenomics, MapViewer
Location:
Xq26.1
Exon count:
9
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (134460145..134500668)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (133594175..133634698)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene 5'-nucleotidase domain containing 1 pseudogene Neighboring gene PHD finger protein 6 Neighboring gene ribosomal protein L36a pseudogene 54 Neighboring gene microRNA 450b

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Lesch-Nyhan syndrome
MedGen: C0023374 OMIM: 300322 GeneReviews: Lesch-Nyhan Syndrome
Compare labs
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
MedGen: C0268117 OMIM: 300323 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-04-26)

ISCA Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-26)

ISCA Genome Curation Page

Protein interactions

Protein Gene Interaction Pubs
Vpr vpr Treatment of human primary astrocytes with HIV-1 Vpr downregulates expression of eleven genes, BNIP3, CYGB, DUOX2, DUSP1, FOXM1, GAPDH, HPRT1, MT3, MTL5, PTGS2, and SCARA3 PubMed

Go to the HIV-1, Human Protein Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
guanine phosphoribosyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
hypoxanthine phosphoribosyltransferase activity EXP
Inferred from Experiment
more info
 
hypoxanthine phosphoribosyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
magnesium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
GMP catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
GMP salvage IBA
Inferred from Biological aspect of Ancestor
more info
 
IMP metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
IMP salvage IBA
Inferred from Biological aspect of Ancestor
more info
 
IMP salvage IEA
Inferred from Electronic Annotation
more info
 
adenine salvage IBA
Inferred from Biological aspect of Ancestor
more info
 
central nervous system neuron development IEA
Inferred from Electronic Annotation
more info
 
cerebral cortex neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
cytolysis IEA
Inferred from Electronic Annotation
more info
 
dendrite morphogenesis IEA
Inferred from Electronic Annotation
more info
 
dopamine metabolic process IEA
Inferred from Electronic Annotation
more info
 
grooming behavior IEA
Inferred from Electronic Annotation
more info
 
guanine salvage IDA
Inferred from Direct Assay
more info
PubMed 
hypoxanthine metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
hypoxanthine salvage IDA
Inferred from Direct Assay
more info
PubMed 
locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
lymphocyte proliferation IEA
Inferred from Electronic Annotation
more info
 
nucleobase-containing small molecule metabolic process TAS
Traceable Author Statement
more info
 
positive regulation of dopamine metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein homotetramerization IDA
Inferred from Direct Assay
more info
PubMed 
protein homotetramerization IPI
Inferred from Physical Interaction
more info
PubMed 
purine nucleobase metabolic process TAS
Traceable Author Statement
more info
 
purine nucleotide biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
purine ribonucleoside salvage IMP
Inferred from Mutant Phenotype
more info
PubMed 
purine-containing compound salvage TAS
Traceable Author Statement
more info
 
response to amphetamine IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
striatum development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
 
Preferred Names
hypoxanthine-guanine phosphoribosyltransferase
Names
hypoxanthine-guanine phosphoribosyltransferase
HGPRTase
NP_000185.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012329.1 

    Range
    5001..45524
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000194.2NP_000185.1  hypoxanthine-guanine phosphoribosyltransferase

    See proteins identical to NP_000185.1

    Status: REVIEWED

    Source sequence(s)
    AC004383, BC000578, M31642
    Consensus CDS
    CCDS14641.1
    UniProtKB/Swiss-Prot
    P00492
    Related
    ENSP00000298556, OTTHUMP00000024061, ENST00000298556, OTTHUMT00000058361
    Conserved Domains (1) summary
    cd06223
    Location:47182
    Blast Score: 188
    PRTases_typeI; Phosphoribosyl transferase (PRT)-type I domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    134460145..134500668
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    122992617..123032595
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    133505941..133546459
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)