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Pofut1 protein O-fucosyltransferase 1 [ Mus musculus (house mouse) ]

Gene ID: 140484, updated on 28-Oct-2024

Summary

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Official Symbol
Pofut1provided by MGI
Official Full Name
protein O-fucosyltransferase 1provided by MGI
Primary source
MGI:MGI:2153207
See related
Ensembl:ENSMUSG00000046020 AllianceGenome:MGI:2153207
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
O-FucT-1
Summary
Predicted to enable peptide-O-fucosyltransferase activity. Involved in Notch signaling pathway. Acts upstream of or within circulatory system development; nervous system development; and somitogenesis. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum. Is expressed in brain; embryo; skeletal muscle tissue; and skeletal musculature. Human ortholog(s) of this gene implicated in Dowling-Degos disease. Orthologous to human POFUT1 (protein O-fucosyltransferase 1). [provided by Alliance of Genome Resources, Oct 2024]
Expression
Ubiquitous expression in adrenal adult (RPKM 10.2), limb E14.5 (RPKM 10.0) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Pofut1 in Genome Data Viewer
Location:
2 H1; 2 75.41 cM
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (153083435..153114862)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (153241532..153271029)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene TSPY-like 3 Neighboring gene pleiomorphic adenoma gene-like 2 Neighboring gene STARR-positive B cell enhancer ABC_E7868 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:153088886-153089039 Neighboring gene STARR-positive B cell enhancer ABC_E6002 Neighboring gene predicted gene, 39961 Neighboring gene kinesin family member 3B Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:153161910-153162194 Neighboring gene RIKEN cDNA 2500004C02 gene Neighboring gene STARR-positive B cell enhancer ABC_E7869 Neighboring gene STARR-seq mESC enhancer starr_06089

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Protein O-fucosyltransferase 1 expression impacts myogenic C2C12 cell commitment via the Notch signaling pathway. Der Vartanian A, et al. Mol Cell Biol, 2015 Jan. PMID 25384974, Free PMC Article
  2. Notch Receptor-Ligand Engagement Maintains Hematopoietic Stem Cell Quiescence and Niche Retention. Wang W, et al. Stem Cells, 2015 Jul. PMID 25851125, Free PMC Article
  3. Role of poFUT1 and O-fucosylation in placental angiogenesis†. Liang C, et al. Biol Reprod, 2023 Apr 11. PMID 36723873
  4. Intestinal deletion of Pofut1 in the mouse inactivates notch signaling and causes enterocolitis. Guilmeau S, et al. Gastroenterology, 2008 Sep. PMID 18621050, Free PMC Article
  5. POFUT1 is dispensable for structure, function and survival of mouse podocytes. Zhang S, et al. Am J Transl Res, 2020. PMID 32509213, Free PMC Article

See all (61) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Endothelial POFUT1 controls injury-induced liver fibrosis by repressing fibrinogen synthesis.
    Title: Endothelial POFUT1 controls injury-induced liver fibrosis by repressing fibrinogen synthesis.
  2. EOGT enables residual Notch signaling in mouse intestinal cells lacking POFUT1.
    Title: EOGT enables residual Notch signaling in mouse intestinal cells lacking POFUT1.
  3. Role of poFUT1 and O-fucosylation in placental angiogenesisdagger.
    Title: Role of poFUT1 and O-fucosylation in placental angiogenesis†.
  4. Epiregulin and poFUT1 may be suggested as the potential diagnostic biomarkers and useful treatment targets for abortion.
    Title: Epiregulin promotes trophoblast epithelial-mesenchymal transition through poFUT1 and O-fucosylation by poFUT1 on uPA.
  5. POFUT1 could be a new controller of myotube growth during myogenesis, especially through NFATc2/IL-4 signaling pathway.
    Title: Downregulation of POFUT1 Impairs Secondary Myogenic Fusion Through a Reduced NFATc2/IL-4 Signaling Pathway.
  6. POFUT1 inactivation disrupts angiogenic signaling events and results in excessive angiogenic cell proliferation and plexus formation, leading to anomalous coronary arteries, myocardial infarction and heart failure.
    Title: Uncontrolled angiogenic precursor expansion causes coronary artery anomalies in mice lacking Pofut1.
  7. both wild-type and mutant Pofut1 proteins were degraded through lysosome dependent machinery. Pofut1 protein loss in the point mutant embryos caused the same phenotypes as those observed in Pofut1 null embryos
    Title: Pofut1 point-mutations that disrupt O-fucosyltransferase activity destabilize the protein and abolish Notch1 signaling during mouse somitogenesis.
  8. The POFUT1 binds EGF-like domains of the hEGF type and that the highly correlated presence of POFUT1 and fucosylatable hEGFs has accompanied animal evolution.
    Title: Recognition of EGF-like domains by the Notch-modifying O-fucosyltransferase POFUT1.
  9. Loss of Pofut1 expression is associated with Muscle Aging-Related Phenotypes.
    Title: Deletion of Pofut1 in Mouse Skeletal Myofibers Induces Muscle Aging-Related Phenotypes in cis and in trans.
  10. results demonstrated that POFUT1-mediated O-fucosylation of NOTCH receptors regulates myogenic cell differentiation and affects postnatal muscle growth in mice
    Title: Reduced Notch signalling leads to postnatal skeletal muscle hypertrophy in Pofut1cax/cax mice.
Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0180

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables fucosyltransferase activity ISO
Inferred from Sequence Orthology
more info
 PubMed 
enables fucosyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
enables peptide-O-fucosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables peptide-O-fucosyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables peptide-O-fucosyltransferase activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within Notch signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in Notch signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within angiogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within fucose metabolic process TAS
Traceable Author Statement
more info
 PubMed 
acts_upstream_of_or_within heart development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within nervous system development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein O-linked fucosylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein O-linked fucosylation IEA
Inferred from Electronic Annotation
more info
  
involved_in protein O-linked fucosylation ISO
Inferred from Sequence Orthology
more info
  
involved_in protein O-linked glycosylation ISO
Inferred from Sequence Orthology
more info
  
involved_in protein O-linked glycosylation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of Notch signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of Notch signaling pathway ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of Notch signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_or_within somitogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
  
located_in membrane ISO
Inferred from Sequence Orthology
more info
  
located_in membrane ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
GDP-fucose protein O-fucosyltransferase 1
Names
peptide-O-fucosyltransferase 1
NP_536711.3
XP_011237585.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_080463.4 → NP_536711.3  GDP-fucose protein O-fucosyltransferase 1 precursor

    See identical proteins and their annotated locations for NP_536711.3

    Status: VALIDATED

    Source sequence(s)
    AL807380
    Consensus CDS
    CCDS16909.1
    UniProtKB/Swiss-Prot
    Q3V1R0, Q8C8R4, Q91ZW2
    UniProtKB/TrEMBL
    A2AMC3
    Related
    ENSMUSP00000053122.6, ENSMUST00000049863.12
    Conserved Domains (2) summary
    cd11302
    Location:35 → 384
    O-FucT-1; GDP-fucose protein O-fucosyltransferase 1
    pfam10250
    Location:45 → 376
    O-FucT; GDP-fucose protein O-fucosyltransferase

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    153083435..153114862
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011239283.4 → XP_011237585.1  GDP-fucose protein O-fucosyltransferase 1 isoform X1

    Conserved Domains (1) summary
    cd11302
    Location:1 → 271
    O-FucT-1; GDP-fucose protein O-fucosyltransferase 1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001039055.1: Suppressed sequence

    Description
    NM_001039055.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q91ZW2.1 GenPept UniProtKB/Swiss-Prot:Q91ZW2

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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