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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
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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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

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