Seroatlas · Human Serome Atlas

HPRT1

Hypoxanthine-guanine phosphoribosyltransferase

Also known as: HGPRT, HPRT, HPRT_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P00492
Gene
HPRT1
Ensembl
ENSG00000165704
Chromosome
X
Canonical length
218 aa
Protein class
Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins
Subcellular location
Cytosol,Mid piece,Principal piece,End piece,Annulus
Quaternary structure
Homotetramer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

218 residues, UniProt reviewed canonical sequence.

>P00492|HPRT1
     1  MATRSPGVVI SDDEPGYDLD LFCIPNHYAE DLERVFIPHG LIMDRTERLA RDVMKEMGGH
    61  HIVALCVLKG GYKFFADLLD YIKALNRNSD RSIPMTVDFI RLKSYCNDQS TGDIKVIGGD
   121  DLSTLTGKNV LIVEDIIDTG KTMQTLLSLV RQYNPKMVKV ASLLVKRTPR SVGYKPDFVG
   181  FEIPDKFVVG YALDYNEYFR DLNHVCVISE TGKAKYKA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HPRT1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.27
Highest tissue expression
87 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 87 nTPM
  • testis: 71 nTPM
  • retina: 69 nTPM
  • hypothalamus: 64 nTPM
  • epididymis: 59 nTPM
  • bone marrow: 52 nTPM

Single-cell type

  • sertoli cells: 397 nCPM
  • early primary spermatocytes: 300 nCPM
  • parietal cells: 179 nCPM
  • differentiating spermatogonia: 160 nCPM
  • erythrocyte progenitors: 144 nCPM
  • megakaryocytes: 142 nCPM

Immune cell

  • T-reg: 58 nTPM
  • NK-cell: 40 nTPM
  • myeloid DC: 38 nTPM
  • intermediate monocyte: 37 nTPM
  • non-classical monocyte: 36 nTPM
  • memory CD4 T-cell: 31 nTPM

Brain region

  • hypothalamus: 79 nTPM
  • cerebral cortex: 73 nTPM
  • basal ganglia: 59 nTPM
  • pons: 51 nTPM
  • midbrain: 45 nTPM
  • white matter: 43 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HPRT1.

Disease | AllUniProt

Conditions HPRT1 is implicated in, by any mechanism.

Disease | GeneticClinVar

119 pathogenic / likely-pathogenic of 339 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Lesch-Nyhan syndrome
  • Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
  • HPRT1-related disorder
  • Nephrolithiasis/nephrocalcinosis
  • Lesch-nyhan syndrome, neurologic variant

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.34
gnomAD pLI
0.94
gnomAD missense Z
2.32
DepMap mean gene effect
0.04
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of HPRT1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads HPRT1 as an antibody target. Whether an autoantibody or antibody against HPRT1 could matter depends on whether native HPRT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HPRT1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label HPRT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/HPRT1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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