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Aliases for POFUT1 Gene

Aliases for POFUT1 Gene

  • Protein O-Fucosyltransferase 1 2 3 5
  • Peptide-O-Fucosyltransferase 1 3 4
  • EC 2.4.1.221 4 63
  • O-FucT-1 3 4
  • FUT12 3 4
  • GDP-Fucose Protein O-Fucosyltransferase 1 2
  • 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 Signaling by GPCR and Signaling by NOTCH1. 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).

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

Genomics for POFUT1 Gene

Regulatory Elements for POFUT1 Gene

Promoters for POFUT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around POFUT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for POFUT1 Gene

Chromosome:
20
Start:
32,207,822 bp from pter
End:
32,238,667 bp from pter
Size:
30,846 bases
Orientation:
Plus strand

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

    Alternative splice isoforms for POFUT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POFUT1 Gene

Proteomics data for POFUT1 Gene at MOPED

Selected DME Specific Peptides for POFUT1 Gene

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

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 68 family.
Family:
  • Belongs to the glycosyltransferase 68 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

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:

Animal Model Products

miRNA for POFUT1 Gene

miRTarBase miRNAs that target POFUT1

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for POFUT1 Gene COMPARTMENTS Subcellular localization image for POFUT1 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 3
cytoskeleton 2
extracellular 2
lysosome 1
peroxisome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for POFUT1 Gene

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:0006004 fucose metabolic process IEA --
GO:0006493 protein O-linked glycosylation IDA 9023546
GO:0007219 Notch signaling pathway NAS,TAS 15653671
GO:0007399 nervous system development IEA --
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
Guanosine diphosphate Experimental Pharma 0
Manganese Pharma 32

(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:

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 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, MOPED, and MaxQB for POFUT1 Gene



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.
genes like me logo Genes that share expression patterns with POFUT1: view

Protein tissue co-expression partners for POFUT1 Gene

- Elite partner

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia POFUT1 35
  • 89.69 (n)
  • 92.78 (a)
POFUT1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POFUT1 35
  • 88.4 (n)
  • 88.92 (a)
POFUT1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pofut1 35
  • 87.54 (n)
  • 91.24 (a)
Pofut1 16
Pofut1 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia POFUT1 35
  • 99.31 (n)
  • 100 (a)
ptr-mir-1825 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pofut1 35
  • 87.63 (n)
  • 92.27 (a)
oppossum
(Monodelphis domestica)
Mammalia POFUT1 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POFUT1 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves POFUT1 35
  • 74.75 (n)
  • 81.54 (a)
POFUT1 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POFUT1 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pofut1 35
  • 71.2 (n)
  • 72.5 (a)
Str.6855 35
African clawed frog
(Xenopus laevis)
Amphibia pofut1 35
zebrafish
(Danio rerio)
Actinopterygii Dr.15162 35
pofut1 35
  • 68.73 (n)
  • 73.6 (a)
pofut1 36
  • 67 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7311 35
fruit fly
(Drosophila melanogaster)
Insecta O-fut1 37
  • 43 (a)
O-fut1 35
  • 54.89 (n)
  • 47.99 (a)
O-fut1 36
  • 42 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011338 35
  • 54.05 (n)
  • 47.4 (a)
worm
(Caenorhabditis elegans)
Secernentea C15C7.1 37
  • 39 (a)
C15C7.7 35
  • 50 (n)
  • 43.27 (a)
C15C7.7 36
  • 38 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11245 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7678 36
  • 48 (a)
OneToOne
Species with no ortholog for POFUT1:
  • 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 Sequence Context AA Info Type
rs17268666 - 32,231,047(+) AACAG(C/T)TCTTC reference, missense
rs35259534 - 32,234,536(-) GTGGT(C/T)GGCTT reference, missense
rs1884865 -- 32,234,059(-) ctaca(A/C)gtgtg intron-variant
rs1884866 -- 32,233,888(-) ACTCT(C/T)AAGGC intron-variant
rs3803989 -- 32,221,413(+) TCAGA(A/G)TTTTC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv833954 CNV Loss 17160897
nsv3349 CNV Insertion 18451855
esv2722341 CNV Deletion 23290073

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)

Relevant External Links for POFUT1 Gene

HapMap Linkage Disequilibrium report
POFUT1
Human Gene Mutation Database (HGMD)
POFUT1

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

Disorders for POFUT1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for POFUT1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
dowling-degos disease 2
  • ddd2
dowling-degos disease
  • reticulate acropigmentation of kitamura
reticulate acropigmentation of kitamura
  • rapk
degos disease
  • atrophic papulosis, malignant
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.

Relevant External Links for POFUT1

Genetic Association Database (GAD)
POFUT1
Human Genome Epidemiology (HuGE) Navigator
POFUT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POFUT1
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 R.S. (J. Biol. Chem. 2001) 3 4 23 67
  2. O-fucosylation of notch occurs in the endoplasmic reticulum. (PMID: 15653671) Luo Y. … Haltiwanger R.S. (J. Biol. Chem. 2005) 3 23
  3. Purification and characterization of a GDP-fucose:polypeptide fucosyltransferase from Chinese hamster ovary cells. (PMID: 9525914) Wang Y. … Spellman M.W. (J. Biol. Chem. 1998) 2 3
  4. Identification of a GDP-L-fucose:polypeptide fucosyltransferase and enzymatic addition of O-linked fucose to EGF domains. (PMID: 9023546) Wang Y. … Spellman M.W. (Glycobiology 1996) 2 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for POFUT1 Gene

Sources for POFUT1 Gene

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