Seroatlas · Human Serome Atlas

POGLUT1

Protein O-glucosyltransferase 1

Also known as: 9630046K23Rik, C3orf9, hCLP46, KDELCL1, KTELC1, MDS010, MDSRP, MGC32995, PGLT1_HUMAN, Rumi

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

Protein identityUniProt · HPA

UniProt accession
Q8NBL1
Gene
POGLUT1
Ensembl
ENSG00000163389
Chromosome
3
Canonical length
392 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
Subcellular location
Endoplasmic reticulum
Secretome location
Intracellular and membrane

OverviewNCBI Gene

This gene encodes a protein with both O-glucosyltransferase and O-xylosyltransferase activity which localizes to the lumen of the endoplasmic reticulum. This protein has a carboxy-terminal KTEL motif which is predicted to function as an endoplasmic reticulum retention signal. This gene is an essential regulator of Notch signalling and likely plays a role in cell fate and tissue formation during development. It may also play a role in the pathogenesis of leukemia. Mutations in this gene have been associated with the autosomal dominant genodermatosis Dowling-Degos disease 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

Canonical amino-acid sequenceUniProt

392 residues, UniProt reviewed canonical sequence.

>Q8NBL1|POGLUT1
     1  MEWWASSPLR LWLLLFLLPS AQGRQKESGS KWKVFIDQIN RSLENYEPCS SQNCSCYHGV
    61  IEEDLTPFRG GISRKMMAEV VRRKLGTHYQ ITKNRLYREN DCMFPSRCSG VEHFILEVIG
   121  RLPDMEMVIN VRDYPQVPKW MEPAIPVFSF SKTSEYHDIM YPAWTFWEGG PAVWPIYPTG
   181  LGRWDLFRED LVRSAAQWPW KKKNSTAYFR GSRTSPERDP LILLSRKNPK LVDAEYTKNQ
   241  AWKSMKDTLG KPAAKDVHLV DHCKYKYLFN FRGVAASFRF KHLFLCGSLV FHVGDEWLEF
   301  FYPQLKPWVH YIPVKTDLSN VQELLQFVKA NDDVAQEIAE RGSQFIRNHL QMDDITCYWE
   361  NLLSEYSKFL SYNVTRRKGY DQIIPKMLKT EL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against POGLUT1 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
11 nTPM

Expression across tissuesHPA

Tissue

  • seminal vesicle: 11 nTPM
  • tonsil: 10 nTPM
  • lymph node: 10 nTPM
  • smooth muscle: 9.8 nTPM
  • skin: 9.5 nTPM
  • thymus: 9.1 nTPM

Single-cell type

  • cdc: 92 nCPM
  • oligodendrocyte progenitor cells: 38 nCPM
  • oligodendrocytes: 36 nCPM
  • thymocytes: 36 nCPM
  • megakaryocyte-erythroid progenitors: 36 nCPM
  • other brain neurons: 35 nCPM

Immune cell

  • NK-cell: 30 nTPM
  • T-reg: 22 nTPM
  • naive CD4 T-cell: 21 nTPM
  • myeloid DC: 21 nTPM
  • naive CD8 T-cell: 20 nTPM
  • MAIT T-cell: 19 nTPM

Brain region

  • hypothalamus: 7.6 nTPM
  • choroid plexus: 6.7 nTPM
  • medulla oblongata: 6.2 nTPM
  • white matter: 6.2 nTPM
  • pons: 6.1 nTPM
  • cerebral cortex: 6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about POGLUT1.

Disease | AllUniProt

Conditions POGLUT1 is implicated in, by any mechanism.

  • Dowling-Degos disease 4 (DDD4) MIM:615696
  • Muscular dystrophy, limb-girdle, autosomal recessive 21 (LGMDR21) MIM:617232

Disease | GeneticClinVar

23 pathogenic / likely-pathogenic of 338 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Dowling-Degos disease 4
  • Autosomal recessive limb-girdle muscular dystrophy type 2R1

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)
0.89
gnomAD pLI
0
gnomAD missense Z
1.15
DepMap mean gene effect
-0.02
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% 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 POGLUT1 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 POGLUT1 as an antibody target. Whether an autoantibody or antibody against POGLUT1 could matter depends on whether native POGLUT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

POGLUT1 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 POGLUT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/POGLUT1. 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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