Human Gene POFUT1 (uc002wxp.3) Description and Page Index
Description: Homo sapiens protein O-fucosyltransferase 1 (POFUT1), transcript variant 1, mRNA. RefSeq Summary (NM_015352): This gene encodes a member of the glycosyltransferase O-Fuc family. This enzyme adds O-fucose through an O-glycosidic linkage to conserved serine or threonine residues in the epidermal growth factor-like repeats of a number of cell surface and secreted proteins. O-fucose glycans are involved in ligand-induced receptor signaling. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr20:30,795,696-30,826,467 Size: 30,772 Total Exon Count: 7 Strand: + Coding Region Position: hg19 chr20:30,795,745-30,822,464 Size: 26,720 Coding Exon Count: 7
ID:OFUT1_HUMAN DESCRIPTION: RecName: Full=GDP-fucose protein O-fucosyltransferase 1; EC=220.127.116.11; AltName: Full=Peptide-O-fucosyltransferase 1; Short=O-FucT-1; Flags: Precursor; FUNCTION: Catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue in EGF domains. Plays a crucial role in Notch signaling. CATALYTIC ACTIVITY: Transfers an alpha-L-fucosyl residue from GDP- beta-L-fucose to the serine hydroxy group of a protein acceptor. COFACTOR: Manganese. PATHWAY: Protein modification; protein glycosylation. SUBCELLULAR LOCATION: Endoplasmic reticulum (By similarity). TISSUE SPECIFICITY: Highly expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. SIMILARITY: Belongs to the glycosyltransferase 68 family. WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; WEB RESOURCE: Name=Functional Glycomics Gateway - GTase; Note=Peptide-O-fucosyltransferase 1; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_609";
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): POFUT1 CDC HuGE Published Literature: POFUT1
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF10250 - GDP-fucose protein O-fucosyltransferase
ModBase Predicted Comparative 3D Structure on Q9H488
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.