Seroatlas · Human Serome Atlas

GNPAT

Dihydroxyacetone phosphate acyltransferase

Also known as: DAP-AT, DAPAT, DHAPAT, GNPAT_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
O15228
Gene
GNPAT
Ensembl
ENSG00000116906
Chromosome
1
Canonical length
680 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Vesicles,Cell Junctions

OverviewNCBI Gene

This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

Canonical amino-acid sequenceUniProt

680 residues, UniProt reviewed canonical sequence.

>O15228|GNPAT
     1  MESSSSSNSY FSVGPTSPSA VVLLYSKELK KWDEFEDILE ERRHVSDLKF AMKCYTPLVY
    61  KGITPCKPID IKCSVLNSEE IHYVIKQLSK ESLQSVDVLR EEVSEILDEM SHKLRLGAIR
   121  FCAFTLSKVF KQIFSKVCVN EEGIQKLQRA IQEHPVVLLP SHRSYIDFLM LSFLLYNYDL
   181  PVPVIAAGMD FLGMKMVGEL LRMSGAFFMR RTFGGNKLYW AVFSEYVKTM LRNGYAPVEF
   241  FLEGTRSRSA KTLTPKFGLL NIVMEPFFKR EVFDTYLVPI SISYDKILEE TLYVYELLGV
   301  PKPKESTTGL LKARKILSEN FGSIHVYFGD PVSLRSLAAG RMSRSSYNLV PRYIPQKQSE
   361  DMHAFVTEVA YKMELLQIEN MVLSPWTLIV AVLLQNRPSM DFDALVEKTL WLKGLTQAFG
   421  GFLIWPDNKP AEEVVPASIL LHSNIASLVK DQVILKVDSG DSEVVDGLML QHITLLMCSA
   481  YRNQLLNIFV RPSLVAVALQ MTPGFRKEDV YSCFRFLRDV FADEFIFLPG NTLKDFEEGC
   541  YLLCKSEAIQ VTTKDILVTE KGNTVLEFLV GLFKPFVESY QIICKYLLSE EEDHFSEEQY
   601  LAAVRKFTSQ LLDQGTSQCY DVLSSDVQKN ALAACVRLGV VEKKKINNNC IFNVNEPATT
   661  KLEEMLGCKT PIGKPATAKL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GNPAT 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
Other membrane
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.24
Highest tissue expression
97 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 97 nTPM
  • tongue: 79 nTPM
  • heart muscle: 42 nTPM
  • testis: 30 nTPM
  • liver: 29 nTPM
  • duodenum: 28 nTPM

Single-cell type

  • late spermatids: 214 nCPM
  • adrenal cortex cells: 89 nCPM
  • late primary spermatocytes: 89 nCPM
  • thymic myoid cells: 87 nCPM
  • neutrophil progenitors: 67 nCPM
  • early spermatids: 66 nCPM

Immune cell

  • non-classical monocyte: 51 nTPM
  • T-reg: 38 nTPM
  • naive B-cell: 38 nTPM
  • eosinophil: 37 nTPM
  • intermediate monocyte: 37 nTPM
  • classical monocyte: 37 nTPM

Brain region

  • white matter: 29 nTPM
  • choroid plexus: 29 nTPM
  • medulla oblongata: 27 nTPM
  • cerebellum: 26 nTPM
  • basal ganglia: 25 nTPM
  • hypothalamus: 25 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GNPAT.

Disease | AllUniProt

Conditions GNPAT is implicated in, by any mechanism.

  • Rhizomelic chondrodysplasia punctata 2 (RCDP2) MIM:222765

Disease | GeneticClinVar

67 pathogenic / likely-pathogenic of 591 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.42
gnomAD pLI
0.3
gnomAD missense Z
0.67
DepMap mean gene effect
0.01
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 15% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

  • glycerone-phosphate O-acyltransferase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

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

Canonical record: https://seroatlas.com/gene/GNPAT. 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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