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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
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:153083453-153112167 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 75.41 cM, cytoband H2
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    719 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2153207
 protein coding gene Chr2:153083435-153114862 (+)
129S1/SvImJ MGP_129S1SvImJ_G0026690
 protein coding gene Chr2:157858793-157890135 (+)
A/J MGP_AJ_G0026656
 protein coding gene Chr2:151543562-151573111 (+)
AKR/J MGP_AKRJ_G0026627
 protein coding gene Chr2:155974267-156004646 (+)
BALB/cJ MGP_BALBcJ_G0026666
 protein coding gene Chr2:151856209-151885424 (+)
C3H/HeJ MGP_C3HHeJ_G0026408
 protein coding gene Chr2:156347422-156382328 (+)
C57BL/6NJ MGP_C57BL6NJ_G0027115
 protein coding gene Chr2:162448698-162476916 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024486
 protein coding gene Chr2:145123576-145152601 (+)
CAST/EiJ MGP_CASTEiJ_G0025870
 protein coding gene Chr2:156602523-156631307 (+)
CBA/J MGP_CBAJ_G0026387
 protein coding gene Chr2:168426370-168464982 (+)
DBA/2J MGP_DBA2J_G0026523
 protein coding gene Chr2:150753302-150781852 (+)
FVB/NJ MGP_FVBNJ_G0026489
 protein coding gene Chr2:149222098-149251191 (+)
LP/J MGP_LPJ_G0026627
 protein coding gene Chr2:158008388-158040838 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026510
 protein coding gene Chr2:172466127-172494766 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027170
 protein coding gene Chr2:155875938-155905578 (+)
PWK/PhJ MGP_PWKPhJ_G0025604
 protein coding gene Chr2:150288169-150317692 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025407
 protein coding gene Chr2:154704750-154735518 (+)
WSB/EiJ MGP_WSBEiJ_G0025940
 protein coding gene Chr2:156769199-156798802 (+)



Homology
more
  • Human Ortholog
    POFUT1, protein O-fucosyltransferase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    POFUT1, protein O-fucosyltransferase 1
  • Synonyms
    DDD2, FUT12, O-Fuc-T, O-FucT-1, OFUCT1, O-FUT
  • Links
    NCBI Gene ID: 23509
    neXtProt AC: NX_Q9H488
    UniProt: Q9H488

  • Chr Location
    20q11.21; chr20:32207855-32238658 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human POFUT1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    48 phenotypes from 5 alleles in 9 genetic backgrounds
    2 phenotypes from multigenic genotypes
    2 images
    39 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.
Homozygous mutant mice die by midgestation displaying malformations of the somites, vasculature, heart, and nervous system.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    26
  • GO References
    9
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    756
  • Tissues
    23
  • cDNA Data
    68
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000046020 Ensembl Gene Model | MGI Sequence Detail 28715 C57BL/6J ±  kb
    transcript ENSMUST00000049863 Ensembl | MGI Sequence Detail 5600 Not Applicable  
    polypeptide ENSMUSP00000053122 Ensembl | MGI Sequence Detail 393 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 73
      cDNA 70
      Primer pair 3

      Microarray probesets 4
    References
    more
    • Summaries
      All 67
      Developmental Gene Expression 10
      Gene Ontology 9
      Phenotypes 39
    • 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:347837 Tanwar A, et al., Synergistic regulation of Notch signaling by different O-glycans promotes hematopoiesis. Front Immunol. 2023;14:1097332
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    10/22/2024
    MGI 6.24     		The Jackson Laboratory