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 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:30,795,696-30,826,467)mRNA (may differ from genome)Protein (388 aa)
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UniProtKB

-  Comments and Description Text from UniProtKB
  ID: OFUT1_HUMAN
DESCRIPTION: RecName: Full=GDP-fucose protein O-fucosyltransferase 1; EC=2.4.1.221; 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

-  MalaCards Disease Associations
  MalaCards Gene Search: POFUT1
Diseases sorted by gene-association score: dowling-degos disease 2* (1019), dowling-degos disease* (224), reticulate acropigmentation of kitamura (18), spondylocostal dysostosis 3, autosomal recessive (5), pigmentation disease (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 17.22 RPKM in Cells - Transformed fibroblasts
Total median expression: 377.26 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -17.8049-0.363 Picture PostScript Text
3' UTR -1476.784003-0.369 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR019378 - GDP-Fuc_O-FucTrfase

Pfam Domains:
PF10250 - GDP-fucose protein O-fucosyltransferase

ModBase Predicted Comparative 3D Structure on Q9H488
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsemblFlyBaseWormBase 
 Protein SequenceProtein SequenceProtein SequenceProtein Sequence 
 AlignmentAlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008417 fucosyltransferase activity
GO:0016740 transferase activity
GO:0016757 transferase activity, transferring glycosyl groups
GO:0046922 peptide-O-fucosyltransferase activity

Biological Process:
GO:0001525 angiogenesis
GO:0001756 somitogenesis
GO:0005975 carbohydrate metabolic process
GO:0006004 fucose metabolic process
GO:0006355 regulation of transcription, DNA-templated
GO:0006486 protein glycosylation
GO:0006493 protein O-linked glycosylation
GO:0007219 Notch signaling pathway
GO:0007399 nervous system development
GO:0007507 heart development
GO:0008593 regulation of Notch signaling pathway
GO:0016266 O-glycan processing
GO:0036066 protein O-linked fucosylation

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  LP896220 - Sequence 1084 from Patent EP3253886.
AK291033 - Homo sapiens cDNA FLJ76804 complete cds, highly similar to Homo sapiens protein O-fucosyltransferase 1 (POFUT1), transcript variant 1, mRNA.
BC000582 - Homo sapiens protein O-fucosyltransferase 1, mRNA (cDNA clone MGC:2482 IMAGE:3162533), complete cds.
AK303068 - Homo sapiens cDNA FLJ50933 complete cds, highly similar to GDP-fucose protein O-fucosyltransferase 1 precursor (EC 2.4.1.221).
AK300810 - Homo sapiens cDNA FLJ50232 complete cds, highly similar to GDP-fucose protein O-fucosyltransferase 1 precursor (EC 2.4.1.221).
AF375884 - Homo sapiens protein o-fucosyltransferase (POFUT1) mRNA, complete cds.
D80002 - Homo sapiens KIAA0180 mRNA, complete cds.
CU674282 - Synthetic construct Homo sapiens gateway clone IMAGE:100017567 5' read POFUT1 mRNA.
KJ893389 - Synthetic construct Homo sapiens clone ccsbBroadEn_02783 POFUT1 gene, encodes complete protein.
AB383785 - Synthetic construct DNA, clone: pF1KSDA0180, Homo sapiens POFUT1 gene for GDP-fucose protein O-fucosyltransferase 1 precursor, complete cds, without stop codon, in Flexi system.
AL832023 - Homo sapiens mRNA; cDNA DKFZp451J114 (from clone DKFZp451J114).
AK124093 - Homo sapiens cDNA FLJ42099 fis, clone TESOP2006110.
JD390272 - Sequence 371296 from Patent EP1572962.
JD056878 - Sequence 37902 from Patent EP1572962.
JD158172 - Sequence 139196 from Patent EP1572962.
JD091957 - Sequence 72981 from Patent EP1572962.
JD360633 - Sequence 341657 from Patent EP1572962.
JD269255 - Sequence 250279 from Patent EP1572962.
JD215111 - Sequence 196135 from Patent EP1572962.
JD060462 - Sequence 41486 from Patent EP1572962.
JD375158 - Sequence 356182 from Patent EP1572962.
JD383778 - Sequence 364802 from Patent EP1572962.
JD520802 - Sequence 501826 from Patent EP1572962.
JD545777 - Sequence 526801 from Patent EP1572962.
JD516620 - Sequence 497644 from Patent EP1572962.
BC017669 - Homo sapiens, clone IMAGE:3877672, mRNA.
JD210753 - Sequence 191777 from Patent EP1572962.
JD252996 - Sequence 234020 from Patent EP1572962.
JD227316 - Sequence 208340 from Patent EP1572962.
JD462031 - Sequence 443055 from Patent EP1572962.
JD188153 - Sequence 169177 from Patent EP1572962.
DQ587498 - Homo sapiens piRNA piR-54610, complete sequence.
JD450263 - Sequence 431287 from Patent EP1572962.
JD194588 - Sequence 175612 from Patent EP1572962.
JD383706 - Sequence 364730 from Patent EP1572962.
JD227084 - Sequence 208108 from Patent EP1572962.
JD062345 - Sequence 43369 from Patent EP1572962.
JD209904 - Sequence 190928 from Patent EP1572962.
JD310080 - Sequence 291104 from Patent EP1572962.
JD520005 - Sequence 501029 from Patent EP1572962.
JD402185 - Sequence 383209 from Patent EP1572962.
DQ574232 - Homo sapiens piRNA piR-42344, complete sequence.
JD353291 - Sequence 334315 from Patent EP1572962.
JD295811 - Sequence 276835 from Patent EP1572962.
JD368609 - Sequence 349633 from Patent EP1572962.
JD039972 - Sequence 20996 from Patent EP1572962.
JD284818 - Sequence 265842 from Patent EP1572962.
JD266285 - Sequence 247309 from Patent EP1572962.
JD440581 - Sequence 421605 from Patent EP1572962.
JD186583 - Sequence 167607 from Patent EP1572962.
JD126087 - Sequence 107111 from Patent EP1572962.
JD469653 - Sequence 450677 from Patent EP1572962.
JD115032 - Sequence 96056 from Patent EP1572962.
JD541270 - Sequence 522294 from Patent EP1572962.
JD275443 - Sequence 256467 from Patent EP1572962.
JD447747 - Sequence 428771 from Patent EP1572962.
JD480908 - Sequence 461932 from Patent EP1572962.
JD535554 - Sequence 516578 from Patent EP1572962.
JD252514 - Sequence 233538 from Patent EP1572962.
JD107727 - Sequence 88751 from Patent EP1572962.
JD217937 - Sequence 198961 from Patent EP1572962.
JD212238 - Sequence 193262 from Patent EP1572962.
JD511845 - Sequence 492869 from Patent EP1572962.
JD426891 - Sequence 407915 from Patent EP1572962.
JD545535 - Sequence 526559 from Patent EP1572962.
JD109692 - Sequence 90716 from Patent EP1572962.
JD162196 - Sequence 143220 from Patent EP1572962.
JD132942 - Sequence 113966 from Patent EP1572962.
JD290247 - Sequence 271271 from Patent EP1572962.
JD553506 - Sequence 534530 from Patent EP1572962.
JD250371 - Sequence 231395 from Patent EP1572962.
JD504186 - Sequence 485210 from Patent EP1572962.
JD362081 - Sequence 343105 from Patent EP1572962.
JD119526 - Sequence 100550 from Patent EP1572962.
JD411004 - Sequence 392028 from Patent EP1572962.
JD357512 - Sequence 338536 from Patent EP1572962.
JD164487 - Sequence 145511 from Patent EP1572962.
JD162236 - Sequence 143260 from Patent EP1572962.
JD207518 - Sequence 188542 from Patent EP1572962.
JD559209 - Sequence 540233 from Patent EP1572962.
JD051652 - Sequence 32676 from Patent EP1572962.
JD551180 - Sequence 532204 from Patent EP1572962.
JD432916 - Sequence 413940 from Patent EP1572962.
JD298939 - Sequence 279963 from Patent EP1572962.
JD184855 - Sequence 165879 from Patent EP1572962.
JD075698 - Sequence 56722 from Patent EP1572962.
JD206389 - Sequence 187413 from Patent EP1572962.
JD111818 - Sequence 92842 from Patent EP1572962.
JD540390 - Sequence 521414 from Patent EP1572962.
JD214391 - Sequence 195415 from Patent EP1572962.
JD169922 - Sequence 150946 from Patent EP1572962.
JD370688 - Sequence 351712 from Patent EP1572962.
JD068662 - Sequence 49686 from Patent EP1572962.
JD107380 - Sequence 88404 from Patent EP1572962.
JD338473 - Sequence 319497 from Patent EP1572962.
JD358461 - Sequence 339485 from Patent EP1572962.
JD105505 - Sequence 86529 from Patent EP1572962.
JD202389 - Sequence 183413 from Patent EP1572962.
JD505051 - Sequence 486075 from Patent EP1572962.
JD317843 - Sequence 298867 from Patent EP1572962.
JD454930 - Sequence 435954 from Patent EP1572962.
JD159164 - Sequence 140188 from Patent EP1572962.
JD455761 - Sequence 436785 from Patent EP1572962.
JD340489 - Sequence 321513 from Patent EP1572962.
JD206001 - Sequence 187025 from Patent EP1572962.
JD320100 - Sequence 301124 from Patent EP1572962.
HZ408940 - JP 2015528002-A/1537: CHIRAL CONTROL.
LG052274 - KR 1020150036642-A/1540: CHIRAL CONTROL.
JD544582 - Sequence 525606 from Patent EP1572962.
JD203948 - Sequence 184972 from Patent EP1572962.
JD330703 - Sequence 311727 from Patent EP1572962.
JD085264 - Sequence 66288 from Patent EP1572962.
JD206392 - Sequence 187416 from Patent EP1572962.
JD148296 - Sequence 129320 from Patent EP1572962.
JD249829 - Sequence 230853 from Patent EP1572962.
JD101793 - Sequence 82817 from Patent EP1572962.
JD167426 - Sequence 148450 from Patent EP1572962.
JD291801 - Sequence 272825 from Patent EP1572962.
JD266394 - Sequence 247418 from Patent EP1572962.
JD105695 - Sequence 86719 from Patent EP1572962.
JD159014 - Sequence 140038 from Patent EP1572962.
JD208809 - Sequence 189833 from Patent EP1572962.
JD274728 - Sequence 255752 from Patent EP1572962.
JD274729 - Sequence 255753 from Patent EP1572962.
JD473609 - Sequence 454633 from Patent EP1572962.
JD052766 - Sequence 33790 from Patent EP1572962.
JD378277 - Sequence 359301 from Patent EP1572962.
JD491347 - Sequence 472371 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9H488 (Reactome details) participates in the following event(s):

R-HSA-1912349 Fucosylation of Pre-NOTCH by POFUT1
R-HSA-1912399 Pre-NOTCH Processing in the Endoplasmic Reticulum
R-HSA-1912422 Pre-NOTCH Expression and Processing
R-HSA-157118 Signaling by NOTCH
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A8K4R8, E1P5M4, FUT12, KIAA0180, NM_015352, NP_056167, OFUT1_HUMAN, Q14685, Q5W185, Q9BW76, Q9H488
UCSC ID: uc002wxp.3
RefSeq Accession: NM_015352
Protein: Q9H488 (aka OFUT1_HUMAN or OFU1_HUMAN)
CCDS: CCDS13198.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_015352.1
exon count: 7CDS single in 3' UTR: no RNA size: 5249
ORF size: 1167CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2291.00frame shift in genome: no % Coverage: 99.43
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.