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Aliases for POFUT1 Gene

Aliases for POFUT1 Gene

  • Protein O-Fucosyltransferase 1 2 3 5
  • GDP-Fucose Protein O-Fucosyltransferase 1 2 3
  • Peptide-O-Fucosyltransferase 1 3 4
  • EC 2.4.1.221 4 56
  • O-FucT-1 3 4
  • FUT12 3 4
  • Peptide-O-Fucosyltransferase 2
  • O-Fucosyltransferase Protein 3
  • KIAA0180 4
  • O-Fuc-T 3
  • OFUCT1 3
  • O-FUT 3
  • DDD2 3

External Ids for POFUT1 Gene

Previous GeneCards Identifiers for POFUT1 Gene

  • GC20P030583
  • GC20P031493
  • GC20P031540
  • GC20P030259
  • GC20P030795
  • GC20P027584

Summaries for POFUT1 Gene

Entrez Gene Summary for POFUT1 Gene

  • 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]

GeneCards Summary for POFUT1 Gene

POFUT1 (Protein O-Fucosyltransferase 1) is a Protein Coding gene. Diseases associated with POFUT1 include Dowling-Degos Disease 2 and Dowling-Degos Disease. Among its related pathways are Notch Signaling Pathway (sino) and Other types of O-glycan biosynthesis. Gene Ontology (GO) annotations related to this gene include fucosyltransferase activity and peptide-O-fucosyltransferase activity.

UniProtKB/Swiss-Prot for POFUT1 Gene

  • Catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue found in the consensus sequence C2-X(4,5)-[S/T]-C3 of EGF domains, where C2 and C3 are the second and third conserved cysteines. Specifically uses GDP-fucose as donor substrate and proper disulfide pairing of the substrate EGF domains is required for fucose transfer. Plays a crucial role in NOTCH signaling. Initial fucosylation of NOTCH by POFUT1 generates a substrate for FRINGE/RFNG, an acetylglucosaminyltransferase that can then extend the fucosylation on the NOTCH EGF repeats. This extended fucosylation is required for optimal ligand binding and canonical NOTCH signaling induced by DLL1 or JAGGED1. Fucosylates AGRN and determines its ability to cluster acetylcholine receptors (AChRs).

Additional gene information for POFUT1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POFUT1 Gene

Genomics for POFUT1 Gene

GeneHancer (GH) Regulatory Elements for POFUT1 Gene

Promoters and enhancers for POFUT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20I032197 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 557.2 -3.5 -3520 12.7 HDGF SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 PLAGL2 POFUT1 TSPY26P HCK NOL4L TM9SF4 GC20P032195
GH20I031840 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 29.9 -363.8 -363787 6.6 HDGF PKNOX1 SIN3A YBX1 ZNF48 TCF12 GLIS2 ZNF207 ZNF143 ATF7 FOXS1 GC20M031845 ASXL1 MYLK2 POFUT1 TSPY26P TTLL9 TM9SF4 BAK1P1 PLAGL2
GH20I031601 Promoter/Enhancer 3.1 VISTA EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.8 -600.4 -600370 11.5 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 ID1 GC20P031606 MIR3193 ASXL1 TM9SF4 MYLK2 COX4I2 HM13 RNU6-384P HM13-AS1
GH20I032254 Enhancer 1.3 Ensembl ENCODE dbSUPER 16 +48.5 48547 2.8 PKNOX1 CLOCK ATF1 FOXA2 ARID4B DMAP1 ZNF48 ETS1 ATF7 FOS POFUT1 PLAGL2 TSPY26P NOL4L GC20P032252 KIF3B
GH20I032631 Enhancer 0.9 dbSUPER 20.8 +425.4 425350 3.8 TCF12 POLR2B ZNF766 ZNF143 ATF7 NCOA1 GTF2B ZNF592 MEF2D ATF4 TM9SF4 ASXL1 POFUT1 CDK5RAP1 NOL4L ENSG00000233293 PLAGL2 C20orf203 COMMD7 DNMT3B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around POFUT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the POFUT1 gene promoter:

Genomic Locations for POFUT1 Gene

Genomic Locations for POFUT1 Gene
chr20:32,207,822-32,238,667
(GRCh38/hg38)
Size:
30,846 bases
Orientation:
Plus strand
chr20:30,795,683-30,826,470
(GRCh37/hg19)

Genomic View for POFUT1 Gene

Genes around POFUT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POFUT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POFUT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POFUT1 Gene

Proteins for POFUT1 Gene

  • Protein details for POFUT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H488-OFUT1_HUMAN
    Recommended name:
    GDP-fucose protein O-fucosyltransferase 1
    Protein Accession:
    Q9H488
    Secondary Accessions:
    • A8K4R8
    • E1P5M4
    • Q14685
    • Q5W185
    • Q9BW76

    Protein attributes for POFUT1 Gene

    Size:
    388 amino acids
    Molecular mass:
    43956 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for POFUT1 Gene

    Alternative splice isoforms for POFUT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POFUT1 Gene

Selected DME Specific Peptides for POFUT1 Gene

Q9H488:
  • SLEDFME
  • CPCMGRFGNQ
  • GNPFGPFWD

Post-translational modifications for POFUT1 Gene

Other Protein References for POFUT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for POFUT1 Gene

Gene Families for POFUT1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted secreted proteins

Protein Domains for POFUT1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for POFUT1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H488

UniProtKB/Swiss-Prot:

OFUT1_HUMAN :
  • Belongs to the glycosyltransferase 65 family.
Family:
  • Belongs to the glycosyltransferase 65 family.
genes like me logo Genes that share domains with POFUT1: view

Function for POFUT1 Gene

Molecular function for POFUT1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=6 uM for F7 EGF domain {ECO:0000269 PubMed:11524432}; KM=4 uM for GDP-fucose {ECO:0000269 PubMed:11524432}; Vmax=3 umol/min/mg enzyme {ECO:0000269 PubMed:11524432};
UniProtKB/Swiss-Prot CatalyticActivity:
Transfers an alpha-L-fucosyl residue from GDP-beta-L-fucose to the serine hydroxy group of a protein acceptor.
UniProtKB/Swiss-Prot Function:
Catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue found in the consensus sequence C2-X(4,5)-[S/T]-C3 of EGF domains, where C2 and C3 are the second and third conserved cysteines. Specifically uses GDP-fucose as donor substrate and proper disulfide pairing of the substrate EGF domains is required for fucose transfer. Plays a crucial role in NOTCH signaling. Initial fucosylation of NOTCH by POFUT1 generates a substrate for FRINGE/RFNG, an acetylglucosaminyltransferase that can then extend the fucosylation on the NOTCH EGF repeats. This extended fucosylation is required for optimal ligand binding and canonical NOTCH signaling induced by DLL1 or JAGGED1. Fucosylates AGRN and determines its ability to cluster acetylcholine receptors (AChRs).

Enzyme Numbers (IUBMB) for POFUT1 Gene

Phenotypes From GWAS Catalog for POFUT1 Gene

Gene Ontology (GO) - Molecular Function for POFUT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008417 fucosyltransferase activity IDA 9023546
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0046922 peptide-O-fucosyltransferase activity TAS 11698403
genes like me logo Genes that share ontologies with POFUT1: view
genes like me logo Genes that share phenotypes with POFUT1: view

Human Phenotype Ontology for POFUT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for POFUT1 Gene

MGI Knock Outs for POFUT1:

miRNA for POFUT1 Gene

miRTarBase miRNAs that target POFUT1

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for POFUT1 Gene

Localization for POFUT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POFUT1 Gene

Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POFUT1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 3
golgi apparatus 3
cytoskeleton 2
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for POFUT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA,IEA 15653671
GO:0016020 membrane IDA 9023546
genes like me logo Genes that share ontologies with POFUT1: view

Pathways & Interactions for POFUT1 Gene

genes like me logo Genes that share pathways with POFUT1: view

Pathways by source for POFUT1 Gene

1 KEGG pathway for POFUT1 Gene
1 R&D Systems pathway for POFUT1 Gene

UniProtKB/Swiss-Prot Q9H488-OFUT1_HUMAN

  • Pathway: Protein modification; protein glycosylation.

SIGNOR curated interactions for POFUT1 Gene

Activates:

Gene Ontology (GO) - Biological Process for POFUT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0001756 somitogenesis IEA --
GO:0005975 carbohydrate metabolic process IEA --
GO:0006004 fucose metabolic process IEA --
GO:0006355 regulation of transcription, DNA-templated NAS 11698403
genes like me logo Genes that share ontologies with POFUT1: view

Drugs & Compounds for POFUT1 Gene

(2) Drugs for POFUT1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 37
Guanosine diphosphate Experimental Pharma 0

(1) Additional Compounds for POFUT1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with POFUT1: view

Transcripts for POFUT1 Gene

Unigene Clusters for POFUT1 Gene

Protein O-fucosyltransferase 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for POFUT1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8
SP1: -
SP2:
SP3: - -
SP4: - -

Relevant External Links for POFUT1 Gene

GeneLoc Exon Structure for
POFUT1
ECgene alternative splicing isoforms for
POFUT1

Expression for POFUT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for POFUT1 Gene

Protein differential expression in normal tissues from HIPED for POFUT1 Gene

This gene is overexpressed in Liver (8.6) and Fetal testis (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for POFUT1 Gene



Protein tissue co-expression partners for POFUT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of POFUT1 Gene:

POFUT1

SOURCE GeneReport for Unigene cluster for POFUT1 Gene:

Hs.472409

mRNA Expression by UniProt/SwissProt for POFUT1 Gene:

Q9H488-OFUT1_HUMAN
Tissue specificity: Highly expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.

Evidence on tissue expression from TISSUES for POFUT1 Gene

  • Nervous system(4.5)
  • Liver(4.3)
  • Heart(4.2)
  • Bone marrow(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for POFUT1 Gene

Germ Layers:
  • ectoderm
Systems:
  • integumentary
  • nervous
Organs:
Head and neck:
  • eye
  • eyelid
General:
  • skin
genes like me logo Genes that share expression patterns with POFUT1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for POFUT1 Gene

Orthologs for POFUT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for POFUT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ptr-mir-1825 34
  • 100 (a)
OneToOne
POFUT1 33
  • 99.31 (n)
cow
(Bos Taurus)
Mammalia POFUT1 33 34
  • 89.69 (n)
dog
(Canis familiaris)
Mammalia POFUT1 33 34
  • 88.4 (n)
rat
(Rattus norvegicus)
Mammalia Pofut1 33
  • 87.63 (n)
mouse
(Mus musculus)
Mammalia Pofut1 33 16 34
  • 87.54 (n)
oppossum
(Monodelphis domestica)
Mammalia POFUT1 34
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POFUT1 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves POFUT1 33 34
  • 74.75 (n)
lizard
(Anolis carolinensis)
Reptilia POFUT1 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pofut1 33
  • 71.2 (n)
Str.6855 33
African clawed frog
(Xenopus laevis)
Amphibia pofut1 33
zebrafish
(Danio rerio)
Actinopterygii pofut1 33 34
  • 68.73 (n)
Dr.15162 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7311 33
fruit fly
(Drosophila melanogaster)
Insecta O-fut1 35 33 34
  • 54.89 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011338 33
  • 54.05 (n)
worm
(Caenorhabditis elegans)
Secernentea C15C7.7 33 34
  • 50 (n)
C15C7.1 35
  • 39 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7678 34
  • 48 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11245 33
Species where no ortholog for POFUT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for POFUT1 Gene

ENSEMBL:
Gene Tree for POFUT1 (if available)
TreeFam:
Gene Tree for POFUT1 (if available)

Paralogs for POFUT1 Gene

No data available for Paralogs for POFUT1 Gene

Variants for POFUT1 Gene

Sequence variations from dbSNP and Humsavar for POFUT1 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs17268666 benign, Dowling-Degos disease 2 32,231,047(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs398123038 pathogenic, Dowling-Degos disease 2 32,216,609(+) G/T coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs6579005 benign, Dowling-Degos disease 2 32,228,308(+) A/G coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, synonymous_variant
rs886041033 pathogenic, Dowling-Degos disease 2 32,216,660(+) AA/A coding_sequence_variant, frameshift, non_coding_transcript_variant
rs139014980 likely-benign, not provided 32,216,732(+) G/A/C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for POFUT1 Gene

Variant ID Type Subtype PubMed ID
esv2722341 CNV deletion 23290073
nsv3349 CNV insertion 18451855
nsv833954 CNV loss 17160897

Variation tolerance for POFUT1 Gene

Residual Variation Intolerance Score: 27.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.14; 51.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POFUT1 Gene

Human Gene Mutation Database (HGMD)
POFUT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POFUT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POFUT1 Gene

Disorders for POFUT1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for POFUT1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
dowling-degos disease 2
  • ddd2
dowling-degos disease
  • dark dot disease
reticulate acropigmentation of kitamura
  • rak
pigmentation disease
  • pigmentation disorders
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

OFUT1_HUMAN
  • Dowling-Degos disease 2 (DDD2) [MIM:615327]: An autosomal dominant genodermatosis. Affected individuals develop a postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. {ECO:0000269 PubMed:23684010}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for POFUT1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with POFUT1: view

No data available for Genatlas for POFUT1 Gene

Publications for POFUT1 Gene

  1. Modification of epidermal growth factor-like repeats with O-fucose. Molecular cloning and expression of a novel GDP-fucose protein O-fucosyltransferase. (PMID: 11524432) Wang Y … Haltiwanger RS (The Journal of biological chemistry 2001) 3 4 22 58
  2. Structure of human POFUT1, its requirement in ligand-independent oncogenic Notch signaling, and functional effects of Dowling-Degos mutations. (PMID: 28334865) McMillan BJ … Blacklow SC (Glycobiology 2017) 3 4 58
  3. Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. (PMID: 23684010) Li M … Yao Z (American journal of human genetics 2013) 3 4 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. O-fucosylation of notch occurs in the endoplasmic reticulum. (PMID: 15653671) Luo Y … Haltiwanger RS (The Journal of biological chemistry 2005) 3 22 58

Products for POFUT1 Gene

Sources for POFUT1 Gene

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