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    POFUT1 protein O-fucosyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 23509, updated on 3-Nov-2024

    Summary

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    Official Symbol
    POFUT1provided by HGNC
    Official Full Name
    protein O-fucosyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:14988
    See related
    Ensembl:ENSG00000101346 MIM:607491; AllianceGenome:HGNC:14988
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DDD2; FUT12; O-FUT; OFUCT1; O-Fuc-T; O-FucT-1
    Summary
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 10.9), small intestine (RPKM 10.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See POFUT1 in Genome Data Viewer
    Location:
    20q11.21
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (32207880..32238658)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (33931803..33962575)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (30795683..30826461)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12777 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:30779125-30779322 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:30784106-30784868 Neighboring gene testis specific protein Y-linked 26, pseudogene Neighboring gene PLAG1 like zinc finger 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17712 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:30795517-30796430 Neighboring gene uncharacterized LOC124904884 Neighboring gene microRNA 1825 Neighboring gene NANOG hESC enhancer GRCh37_chr20:30858165-30858696 Neighboring gene uncharacterized LOC124904885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:30865306-30865816 Neighboring gene kinesin family member 3B Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:30914131-30915330 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17715

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. poFUT1 promotes uterine angiogenesis and vascular remodeling via enhancing the O-fucosylation on uPA. Zhang D, et al. Cell Death Dis, 2019 Oct 10. PMID 31601791, Free PMC Article
    2. Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura. Buket Basmanav F, et al. J Invest Dermatol, 2015 Feb. PMID 25229252
    3. LIF upregulates poFUT1 expression and promotes trophoblast cell migration and invasion at the fetal-maternal interface. Liu S, et al. Cell Death Dis, 2014 Aug 28. PMID 25165882, Free PMC Article
    4. Analysis of POFUT1 gene mutation in a Chinese family with Dowling-Degos disease. Chen M, et al. PLoS One, 2014. PMID 25157627, Free PMC Article
    5. Pathogenicity of POFUT1 mutations in two Chinese families with Dowling-Degos disease. Li CR, et al. J Eur Acad Dermatol Venereol, 2016 Oct. PMID 26486618

    See all (73) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Analysis of endogenous NOTCH1 from POFUT1 S162L patient fibroblasts reveals the importance of the O-fucose modification on EGF12 in human development.
      Title: Analysis of endogenous NOTCH1 from POFUT1 S162L patient fibroblasts reveals the importance of the O-fucose modification on EGF12 in human development.
    2. POFUT1 and PLAGL2 are characteristic markers of mucinous colorectal cancer associated with MUC2 expression.
      Title: POFUT1 and PLAGL2 are characteristic markers of mucinous colorectal cancer associated with MUC2 expression.
    3. Overexpression of POFUT1 promotes malignant phenotype and mediates perineural invasion in head and neck squamous cell carcinoma.
      Title: Overexpression of POFUT1 promotes malignant phenotype and mediates perineural invasion in head and neck squamous cell carcinoma.
    4. Preliminary study on the mechanism of POFUT1 in colorectal cancer.
      Title: Preliminary study on the mechanism of POFUT1 in colorectal cancer.
    5. Circular RNA circPOFUT1 enhances malignant phenotypes and autophagy-associated chemoresistance via sequestrating miR-488-3p to activate the PLAG1-ATG12 axis in gastric cancer.
      Title: Circular RNA circPOFUT1 enhances malignant phenotypes and autophagy-associated chemoresistance via sequestrating miR-488-3p to activate the PLAG1-ATG12 axis in gastric cancer.
    6. POFUT1 acts as a tumor promoter in glioblastoma by enhancing the activation of Notch signaling.
      Title: POFUT1 acts as a tumor promoter in glioblastoma by enhancing the activation of Notch signaling.
    7. poFUT1 promotes uterine angiogenesis and vascular remodeling via enhancing the O-fucosylation on uPA.
      Title: poFUT1 promotes uterine angiogenesis and vascular remodeling via enhancing the O-fucosylation on uPA.
    8. PLAGL2 and POFUT1 were common and upregulated in tumor samples in colorectal cancer (CRC). Survival analysis of PLAGL2 and POFUT1 expression revealed differences between proximal and distal CRC. PLAGL2 and POFUT1, which have the highest correlation with tumor location, may serve as biomarkers and therapeutic targets for the precise diagnosis and treatment of CRC in the future.
      Title: Weighted gene coexpression analysis indicates that PLAGL2 and POFUT1 are related to the differential features of proximal and distal colorectal cancer.
    9. High POFUT1 expression was also associated with Notch signaling enrichment and with decreased goblet cells differentiation. In-depth molecular characterization of colorectal adenomas revealed POFUT1 and Notch signaling as potential drivers of tumor progression.
      Title: Molecular characterization of colorectal adenomas reveals POFUT1 as a candidate driver of tumor progression.
    10. Our team identified for the first time a bidirectional promoter pair oncogene, PLAGL2-POFUT1, in colorectal cancer (CRC).
      Title: PLAGL2 and POFUT1 are regulated by an evolutionarily conserved bidirectional promoter and are collaboratively involved in colorectal cancer by maintaining stemness.
    Submit: New GeneRIF Correction See all GeneRIFs (28)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Dowling-Degos disease 2
    MedGen: C3809147 OMIM: 615327 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Both HIV-1 Tat 47-59 and FITC-labeled Tat 47-59 peptides upregulate gene expression of protein O-fucosyltransferase 1 (POFUT1) in U-937 macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC2482, KIAA0180

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables fucosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables peptide-O-fucosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables peptide-O-fucosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables peptide-O-fucosyltransferase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Notch signaling pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in O-glycan processing TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in fucose metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in heart development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in nervous system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein O-linked fucosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein O-linked fucosylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein O-linked glycosylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of Notch signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of Notch signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in somitogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane HDA PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    GDP-fucose protein O-fucosyltransferase 1
    Names
    o-fucosyltransferase protein
    peptide-O-fucosyltransferase 1
    NP_056167.1
    NP_758436.1
    XP_047296035.1
    XP_054179274.1

    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.

    Genomic

    1. NG_033906.1 RefSeqGene

      Range
      4988..35766
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_015352.2 → NP_056167.1  GDP-fucose protein O-fucosyltransferase 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_056167.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1) of this protein.
      Source sequence(s)
      AL121897
      Consensus CDS
      CCDS13198.1
      UniProtKB/Swiss-Prot
      A8K4R8, E1P5M4, Q14685, Q5W185, Q9BW76, Q9H488
      Related
      ENSP00000364902.3, ENST00000375749.8
      Conserved Domains (1) summary
      cd11302
      Location:30 → 379
      O-FucT-1; GDP-fucose protein O-fucosyltransferase 1

    2. NM_172236.2 → NP_758436.1  GDP-fucose protein O-fucosyltransferase 1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_758436.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate exon in the 3' coding region and 3' UTR, compared to variant 1. Isoform 2 has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL121897, BC000582
      Consensus CDS
      CCDS13199.1
      UniProtKB/TrEMBL
      A0A9L9PY15
      Related
      ENSP00000364882.3, ENST00000375730.3
      Conserved Domains (1) summary
      cl16914
      Location:30 → 181
      O-FucT_like; GDP-fucose protein O-fucosyltransferase and related proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      32207880..32238658
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440079.1 → XP_047296035.1  GDP-fucose protein O-fucosyltransferase 1 isoform X1

    RNA

    1. XR_007067447.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      33931803..33962575
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323299.1 → XP_054179274.1  GDP-fucose protein O-fucosyltransferase 1 isoform X1

    RNA

    1. XR_008485247.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H488.1 GenPept UniProtKB/Swiss-Prot:Q9H488

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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