Seroatlas · Human Serome Atlas

POFUT1

GDP-fucose protein O-fucosyltransferase 1

Also known as: FUT12, KIAA0180, O-Fuc-T, O-FUT, OFUT1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9H488
Gene
POFUT1
Ensembl
ENSG00000101346
Chromosome
20
Canonical length
388 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
Subcellular location
Centrosome
Secretome location
Intracellular and membrane

OverviewNCBI Gene

This gene encodes a member of the glycosyltransferase O-Fuc family. This enzyme adds O-fucose through an O-glycosidic linkage to conserved serine or threonine residues in the epidermal growth factor-like repeats of a number of cell surface and secreted proteins. O-fucose glycans are involved in ligand-induced receptor signaling. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

388 residues, UniProt reviewed canonical sequence.

>Q9H488|POFUT1
     1  MGAAAWARPL SVSFLLLLLP LPGMPAGSWD PAGYLLYCPC MGRFGNQADH FLGSLAFAKL
    61  LNRTLAVPPW IEYQHHKPPF TNLHVSYQKY FKLEPLQAYH RVISLEDFME KLAPTHWPPE
   121  KRVAYCFEVA AQRSPDKKTC PMKEGNPFGP FWDQFHVSFN KSELFTGISF SASYREQWSQ
   181  RFSPKEHPVL ALPGAPAQFP VLEEHRPLQK YMVWSDEMVK TGEAQIHAHL VRPYVGIHLR
   241  IGSDWKNACA MLKDGTAGSH FMASPQCVGY SRSTAAPLTM TMCLPDLKEI QRAVKLWVRS
   301  LDAQSVYVAT DSESYVPELQ QLFKGKVKVV SLKPEVAQVD LYILGQADHF IGNCVSSFTA
   361  FVKRERDLQG RPSSFFGMDR PPKLRDEF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against POFUT1 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
29 nTPM

Expression across tissuesHPA

Tissue

  • liver: 29 nTPM
  • parathyroid gland: 21 nTPM
  • small intestine: 20 nTPM
  • colon: 17 nTPM
  • ovary: 17 nTPM
  • fallopian tube: 17 nTPM

Single-cell type

  • enterocytes: 67 nCPM
  • gastric progenitor cells: 65 nCPM
  • hepatocytes: 53 nCPM
  • extravillous trophoblasts: 39 nCPM
  • enteric stem cells: 38 nCPM
  • renal collecting duct intercalated cells: 34 nCPM

Immune cell

  • non-classical monocyte: 18 nTPM
  • intermediate monocyte: 14 nTPM
  • classical monocyte: 4.9 nTPM
  • myeloid DC: 4 nTPM
  • total PBMC: 3.9 nTPM
  • memory B-cell: 2.8 nTPM

Brain region

  • medulla oblongata: 13 nTPM
  • choroid plexus: 12 nTPM
  • midbrain: 11 nTPM
  • thalamus: 11 nTPM
  • basal ganglia: 11 nTPM
  • amygdala: 11 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about POFUT1.

Disease | AllUniProt

Conditions POFUT1 is implicated in, by any mechanism.

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 154 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)
0.33
gnomAD pLI
0.96
gnomAD missense Z
0.95
DepMap mean gene effect
-0.07
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 17% 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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads POFUT1 as an antibody target. Whether an autoantibody or antibody against POFUT1 could matter depends on whether native POFUT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

POFUT1 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 POFUT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/POFUT1. 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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