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Pofut1 Gene Detail
Summary
  • Symbol
    Pofut1
  • Name
    protein O-fucosyltransferase 1
  • Synonyms
    O-FucT-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2153207
    NCBI Gene: 140484
Location & Maps
more
  • Sequence Map
    Chr2:153241533-153270247 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      28715 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 75.41 cM, cytoband H2
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    POFUT1, protein O-fucosyltransferase 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    POFUT1, protein O-fucosyltransferase 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    DDD2, FUT12, O-Fuc-T, O-FucT-1, OFUCT1, O-FUT
  • Links
    NCBI Gene ID: 23509
    neXtProt AC: NX_Q9H488

  • Chr Location
    20q11; chr20:32207822-32238664 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human POFUT1 associations

Human Disease Mouse Models
       Dowling-Degos Disease 2; DDD2   OMIM: 615327
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    48 phenotypes from 5 alleles in 9 genetic backgrounds
    2 phenotypes from multigenic genotypes
    2 images
    23 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    8
  • Spontaneous
    1
  • Targeted
    7
  • Incidental Mutations
Homozygous mutant mice die by midgestation displaying malformations of the somites, vasculature, heart, and nervous system.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016735 VEGA Gene Model | MGI Sequence Detail 28715 C57BL/6J ±  kb
transcript OTTMUST00000040560 VEGA | MGI Sequence Detail 5600 Not Applicable  
polypeptide OTTMUSP00000018129 VEGA | MGI Sequence Detail 393 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    208 from dbSNP Build 142
Protein
Information
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  • UniProt
    8 Sequences
  • Protein Ontology
    PR:000012958 GDP-fucose protein O-fucosyltransferase 1
  • EC
  • InterPro Domains
    IPR019378 GDP-fucose protein O-fucosyltransferase
Molecular
Reagents
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  • All nucleic 70
    cDNA 68
    Primer pair 2

    Microarray probesets 4
References
more
  • Summaries
    All 47
    Developmental Gene Expression 7
    Gene Ontology 6
    Phenotypes 23
  • Earliest
    J:72344 Wang Y, et al., Modification of epidermal growth factor-like repeats with O-fucose. Molecular cloning and expression of a novel GDP-fucose protein O-fucosyltransferase. J Biol Chem. 2001 Oct 26;276(43):40338-45
  • Latest
    J:224704 Wang W, et al., Notch Receptor-Ligand Engagement Maintains Hematopoietic Stem Cell Quiescence and Niche Retention. Stem Cells. 2015 Jul;33(7):2280-93

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory