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    pofut1 protein O-fucosyltransferase 1 [ Danio rerio (zebrafish) ]

    Gene ID: 403029, updated on 9-Dec-2024

    Summary

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    Official Symbol
    pofut1provided by ZNC
    Official Full Name
    protein O-fucosyltransferase 1provided by ZNC
    Primary source
    ZFIN:ZDB-GENE-040303-2
    See related
    Ensembl:ENSDARG00000008953 AllianceGenome:ZFIN:ZDB-GENE-040303-2
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    fut12; zgc:110472
    Summary
    Predicted to enable peptide-O-fucosyltransferase activity. Predicted to be involved in protein O-linked fucosylation and regulation of Notch signaling pathway. Predicted to act upstream of or within Notch signaling pathway and fucose metabolic process. Predicted to be active in endoplasmic reticulum. Human ortholog(s) of this gene implicated in Dowling-Degos disease. Orthologous to human POFUT1 (protein O-fucosyltransferase 1). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    human mouse all
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    Genomic context

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    See pofut1 in Genome Data Viewer
    Location:
    chromosome: 23
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 23 NC_007134.7 (7692003..7709527)
    105 previous assembly GRCz10 (GCF_000002035.5) 23 NC_007134.6 (7758031..7775555)

    Chromosome 23 - NC_007134.7Genomic Context describing neighboring genes Neighboring gene transmembrane 9 superfamily protein member 4 Neighboring gene pleiomorphic adenoma gene-like 2 Neighboring gene kinesin family member 3B Neighboring gene protein-L-isoaspartate O-methyltransferase domain-containing protein 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. Li M, et al. Am J Hum Genet, 2013 Jun 6. PMID 23684010, Free PMC Article
    2. Metabolic labeling of fucosylated glycans in developing zebrafish. Dehnert KW, et al. ACS Chem Biol, 2011 Jun 17. PMID 21425872, Free PMC Article
    3. Neuroepithelial cells require fucosylated glycans to guide the migration of vagus motor neuron progenitors in the developing zebrafish hindbrain. Ohata S, et al. Development, 2009 May. PMID 19369395
    4. RFX transcription factors are essential for hearing in mice. Elkon R, et al. Nat Commun, 2015 Oct 15. PMID 26469318, Free PMC Article
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Pathways from PubChem

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    General gene information

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    Homology

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables peptide-O-fucosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables peptide-O-fucosyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within fucose metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein O-linked fucosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within protein O-linked fucosylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of Notch signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    GDP-fucose protein O-fucosyltransferase 1
    NP_991281.3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_205718.3 → NP_991281.3  GDP-fucose protein O-fucosyltransferase 1 precursor

      Status: VALIDATED

      Source sequence(s)
      CU914163, EH495993, EH555457, EH588556, EH601111
      UniProtKB/TrEMBL
      A0A8N7V080, F1R676
      Related
      ENSDARP00000008366.7, ENSDART00000018512.9
      Conserved Domains (2) summary
      cd11302
      Location:35 → 384
      O-FucT-1; GDP-fucose protein O-fucosyltransferase 1
      pfam10250
      Location:45 → 377
      O-FucT; GDP-fucose protein O-fucosyltransferase

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007134.7 Reference GRCz11 Primary Assembly

      Range
      7692003..7709527
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version

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