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Gene: POFUT1 (protein O-fucosyltransferase 1) Homo sapiens
Symbol: POFUT1
Name: protein O-fucosyltransferase 1
Description: Exhibits peptide-O-fucosyltransferase activity. Involved in protein O-linked fucosylation and regulation of Notch signaling pathway. Localizes to endoplasmic reticulum and membrane. Implicated in Dowling-Degos disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DDD2; FUT12; GDP-fucose protein O-fucosyltransferase 1; KIAA0180; MGC2482; O-Fuc-T; o-fucosyltransferase protein; O-FucT-1; O-FUT; OFUCT1; peptide-O-fucosyltransferase 1
Mus musculus (house mouse) : Pofut1 (protein O-fucosyltransferase 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Pofut1 (protein O-fucosyltransferase 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Pofut1 (protein O-fucosyltransferase 1)
Pan paniscus (bonobo/pygmy chimpanzee) : POFUT1 (protein O-fucosyltransferase 1)
Canis lupus familiaris (dog) : POFUT1 (protein O-fucosyltransferase 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Pofut1 (protein O-fucosyltransferase 1)
Sus scrofa (pig) : POFUT1 (protein O-fucosyltransferase 1)
Chlorocebus sabaeus (African green monkey) : POFUT1 (protein O-fucosyltransferase 1)
Heterocephalus glaber (naked mole-rat) : Pofut1 (protein O-fucosyltransferase 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38.p13 Ensembl2032,207,880 - 32,238,658 (+)EnsemblGRCh38hg38GRCh38
GRCh382032,207,880 - 32,238,658 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372030,795,625 - 30,826,467 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362030,259,357 - 30,290,128 (+)NCBINCBI36hg18NCBI36
Build 342030,259,356 - 30,269,386NCBI
Celera2027,552,048 - 27,582,816 (+)NCBI
Cytogenetic Map20q11.21NCBI
HuRef2027,584,207 - 27,614,126 (+)NCBIHuRef
CHM1_12030,699,542 - 30,730,309 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


RNA-SEQ Expression


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
More on POFUT1
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1348314
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.