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Symbol report for HPRT1

Stable symbol

HGNC data for HPRT1

Approved symbol
HPRT1
Approved name

hypoxanthine phosphoribosyltransferase 1

Locus type
gene with protein product
HGNC ID
HGNC:5157
Symbol status
Approved
Previous symbols
HPRT
Alias symbols
HGPRT
Alias names
Lesch-Nyhan syndrome
hypoxanthine guanine phosphoribosyl transferase
Chromosomal location
Xq26.2-q26.3
Gene resources for HPRT1
Ensembl
ENSG00000165704 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
3251 Curated
UCSC
uc004exl.5
Alliance of Genome Resources
HGNC:5157
Nucleotide resources for HPRT1
MANE Select
NM_000194.3
ENST00000298556.8
INSDC
M26434 Curated
ENAGenBankDDBJ
RefSeq
NM_000194 Curated
NCBI sequence viewer
CCDS
CCDS14641 Curated
Protein resources for HPRT1
UniProt/Swiss-Prot
P00492
InterProPDBeReactome
AlphaFold
AF-P00492-F1
Enzyme Commission
2.4.2.8 Curated
ExpasyBRENDAKEGGIntEnzIUBMB Enzyme Nomenclature
Orthologs from selected species for HPRT1
Canis familiaris
HPRT1 VGNC:41773 VGNC
Equus caballus
HPRT1 VGNC:18860 VGNC
Macaca mulatta
HPRT1 VGNC:73514 VGNC
Mus musculus
Hprt1 MGI:96217 Curated
Pan troglodytes
HPRT1 VGNC:55715 VGNC
Rattus norvegicus
Hprt1 RGD:2826
Sus scrofa
HPRT1 VGNC:109457 VGNC
Clinical resources for HPRT1
OMIM
308000
LSDB
Hypoxanthine Guanine Phosphoribosyltransferase 1; Lech-Nyhan Syndrome Curated
GenCC
HGNC:5157
MedlinePlus
Search via HPRT1
DECIPHER
Search via HPRT1
ClinGen
Search via HGNC:5157
Genetic Testing Registry
Search via NCBI Gene ID 3251
ClinVar
Search via NCBI Gene ID 3251
dbVar
Search via NCBI Gene ID 3251
Orphanet
122476
Other resources for HPRT1
AmiGO
Search via P00492
QuickGO
Search via P00492
BioGPS
Search via NCBI Gene ID 3251
GeneCards
Search via HGNC:5157
Monarch
Search via HGNC:5157
WikiGenes
Search via NCBI Gene ID 3251
References for HPRT1