Seroatlas · Human Serome Atlas

APRT

Adenine phosphoribosyltransferase

Also known as: APT_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P07741
Gene
APRT
Ensembl
ENSG00000198931
Chromosome
16
Canonical length
180 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Cytosol
Quaternary structure
Homodimer

OverviewNCBI Gene

Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

180 residues, UniProt reviewed canonical sequence.

>P07741|APRT
     1  MADSELQLVE QRIRSFPDFP TPGVVFRDIS PVLKDPASFR AAIGLLARHL KATHGGRIDY
    61  IAGLDSRGFL FGPSLAQELG LGCVLIRKRG KLPGPTLWAS YSLEYGKAEL EIQKDALEPG
   121  QRVVVVDDLL ATGGTMNAAC ELLGRLQAEV LECVSLVELT SLKGREKLAP VPFFSLLQYE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against APRT 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
233 nTPM

Expression across tissuesHPA

Tissue

  • skin: 233 nTPM
  • esophagus: 226 nTPM
  • liver: 187 nTPM
  • pancreas: 165 nTPM
  • adrenal gland: 157 nTPM
  • vagina: 148 nTPM

Single-cell type

  • esophageal suprabasal cells: 1,172 nCPM
  • esophageal basal cells: 848 nCPM
  • suprabasal keratinocytes: 598 nCPM
  • esophageal apical cells: 506 nCPM
  • megakaryocytes: 495 nCPM
  • extravillous trophoblasts: 470 nCPM

Immune cell

  • total PBMC: 998 nTPM
  • plasmacytoid DC: 733 nTPM
  • MAIT T-cell: 633 nTPM
  • memory CD4 T-cell: 614 nTPM
  • myeloid DC: 563 nTPM
  • naive CD4 T-cell: 559 nTPM

Brain region

  • choroid plexus: 47 nTPM
  • thalamus: 39 nTPM
  • white matter: 39 nTPM
  • spinal cord: 35 nTPM
  • medulla oblongata: 33 nTPM
  • hypothalamus: 32 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about APRT.

Disease | AllUniProt

Conditions APRT is implicated in, by any mechanism.

  • Adenine phosphoribosyltransferase deficiency (APRTD) MIM:614723

Disease | GeneticClinVar

78 pathogenic / likely-pathogenic of 209 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Adenine phosphoribosyltransferase deficiency
  • See cases
  • APRT deficiency, Japanese type

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)
1.96
gnomAD pLI
0
gnomAD missense Z
-0.24
DepMap mean gene effect
-0.17
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

  • AMP binding
  • adenine binding
  • adenine phosphoribosyltransferase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

APRT 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 APRT as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/APRT. 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).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...