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FLASH GENE
Symbol POFUT1 last update : 21-03-2005
HGNC name protein O-fucosyltransferase 1
HGNC id 14988
Location 20q11
Synonym symbol(s) KIAA0180, OFUT, O-FUC-T, FUT12
DNA RNA EXP/sub-loc PROTEIN PATHOLOGY
DNA
TYPE functioning gene
STRUCTURE 30.00 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
LOC391241 20 similar to Soggy-1 protein precursor (SGY-1) LOC149935 20q11.21 similar to CDK5 regulatory subunit associated protein 3; CDK5 activator-binding protein C53; ischemic heart CDK5 activator-binding protein C53 RPL31P3 20p11-q11 ribosomal protein L31 pseudogene 3 DEFB118 20q11.1-q11.22 defensin, beta 118 DEFB119 20q11.1 defensin, beta 119 DEFB123 20q11.1 defensin, beta 123 REM 20q11.1 RAS (RAD and GEM)-like GTP-binding LOC388794 20 similar to dJ1093G12.6 (A novel protein) HM13 20q11.21 histocompatibility (minor) 13 ID1 20q11 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein COX4I2 20q11.21 cytochrome c oxidase subunit IV isoform 2 BCL2L1 20q11.1 BCL2-like 1 TPX2 20q11.2 TPX2, microtubule-associated protein homolog (Xenopus laevis) MYLK2 20q13.31 myosin light chain kinase 2, skeletal muscle FKHL18 20q11.1-q11.2 forkhead-like 18 (Drosophila) DUSP15 20 dual specificity phosphatase-like 15 LOC164395 20q11.21 hypothetical protein LOC164395 C20orf126 20q11.21 chromosome 20 open reading frame 126 LOC343702 20q11.21 similar to dJ310O13.4 (novel protein similar to predicted C. elegans and C. intestinalis proteins) C20orf160 20q11.2 chromosome 20 open reading frame 160 HCK 20q11.21 hemopoietic cell kinase TM9SF4 20q11.21 transmembrane 9 superfamily protein member 4 RPL24P1 20q11 ribosomal protein L24 pseudogene 1 TSPYL3 20q11.1 TSPY-like 3 PLAGL2 20q11.1 pleiomorphic adenoma gene-like 2 POFUT1 20q11 protein O-fucosyltransferase 1 KIF3B 20p11.2-q11.21 kinesin family member 3B ASXL1 20q11 additional sex combs like 1 (Drosophila) DKFZP566G1424 20q11.1-q11.23 hypothetical protein DKFZp566G1424 C20orf112 20q11.1-q11.23 chromosome 20 open reading frame 112 LOC284804 20q11.21 hypothetical protein LOC284804 LOC149950 20q11.21 hypothetical LOC149950 FLJ33706 20q11.22 hypothetical protein FLJ33706 C20orf92 20q11.22 chromosome 20 open reading frame 92 DNMT3B 20q11.2 DNA (cytosine-5-)-methyltransferase 3 beta MAPRE1 20q11.1-q11.23 microtubule-associated protein, RP/EB family, member 1 LOC388795 20 similar to hypothetical protein FLJ33620 SPAG4L 20q11.21 sperm associated antigen 4-like BPIL1 20q11.21 bactericidal/permeability-increasing protein-like 1 BPIL3 20q11.22 bactericidal/permeability-increasing protein-like 3 LOC391242 20 similar to DNA segment, numerous copies, expressed probes (GS1 gene) C20orf185 20q11.21 chromosome 20 open reading frame 185 C20orf186 20q11.21 chromosome 20 open reading frame 186
RNA
TRANSCRIPTS number of transcripts 2 type messenger
identificationnb exonstypebpproduct
kDaAAspecific expressionauthor
POFUT1 V1 - - 5249
- 388 - Chiang
-
POFUT1 V2 - - 1524
- 194 - Chiang
-
EXPRESSION / SUBCELLULAR LOCALIZATION
EXPRESSION (based on citations) widely
constitutive of
   expressed in
organ(s)
SystemOrgan 1organ 2organ 3organ 4level
Cardiovascularheart    
Digestiveliver    
Endocrinepancreas    
Nervousbrain    
Respiratorylung    
Urinarykidney    
tissue
SystemTissueS_TissueSs_Tissuelevel
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth,lumen,membrane
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal transmembrane sequence typical of a type 2 membrane orientation
    • HOMOLOGY
    interspecies
     
    		 homolog to murine O-fuct-1
    intraspecies
     
    Homologene
    FAMILY glycosyltransferase O-Fuc family
    CATEGORY chaperone/stress , enzyme
    basic FUNCTION
  • catalyzing the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue in EGF domains
  • playing an essential role in Notch signaling
  • specifically required for cell surface localization of Notch (required for normal trafficking of Notch out of the ER)
  • facilitating Notch folding independently of its fucosyltransferase activity (chaperon activity)
    • implicated in a
    process
    cellular process nucleotide, transcription, regulation
    protein, translation regulation
    physiological development
    text embryonic development
    pathway
    metabolism carbohydrate
    signaling
    text fucose metabolism
    a component
    structural
    INTERACTION
    DNA
    RNA
    small molecule metal binding, cofactor,
    manganese
    protein
  • Notch (EGF domain)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS