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

Summary

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, Apr 2022]
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

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_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

EOGT enables residual Notch signaling in mouse intestinal cells lacking POFUT1.
Title: EOGT enables residual Notch signaling in mouse intestinal cells lacking POFUT1.
Role of poFUT1 and O-fucosylation in placental angiogenesisdagger.
Title: Role of poFUT1 and O-fucosylation in placental angiogenesis†.
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.
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.
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.
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.
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.
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.
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.
results establish the critical role of Pofut1 on Notch pathway activation during myogenic differentiation
Title: Protein O-fucosyltransferase 1 expression impacts myogenic C2C12 cell commitment via the Notch signaling pathway.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Variation

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Alleles

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

Spontaneous (1) 1 citation
Targeted (5) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Pofut1 (e-PCR), detects polymorphism
- UniSTS:496758

Pofut1 (e-PCR), detects polymorphism
- UniSTS:496759

PMC154328P1 (e-PCR)
- UniSTS:271304

GDB:182522 (e-PCR)
- UniSTS:155385

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 glycosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables peptide-O-fucosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables peptide-O-fucosyltransferase activity	ISO Inferred from Sequence Orthology more info
enables transferase activity	IEA Inferred from Electronic Annotation 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 carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
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	ISO Inferred from Sequence Orthology more info
involved_in protein O-linked glycosylation	ISO Inferred from Sequence Orthology 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
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	ISO Inferred from Sequence Orthology more info
located_in membrane	ISO Inferred from Sequence Orthology 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

EC 2.4.1.221

XP_011237585.1

EC 2.4.1.221

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)

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

NC_000068.8 Reference GRCm39 C57BL/6J

Range

153083435..153114862

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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.