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

Gene ID: 23509, updated on 13-Mar-2020

Summary

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
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

Genomic context

See POFUT1 in Genome Data Viewer
Location:
20q11.21
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (32207880..32238658)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (30795625..30826467)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene testis specific protein Y-linked 26, pseudogene Neighboring gene PLAG1 like zinc finger 2 Neighboring gene microRNA 1825 Neighboring gene kinesin family member 3B Neighboring gene ASXL transcriptional regulator 1

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC2482, KIAA0180

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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_015352.2NP_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
    Q9H488
    Related
    ENSP00000364902.3, ENST00000375749.8
    Conserved Domains (1) summary
    cd11302
    Location:30379
    O-FucT-1; GDP-fucose protein O-fucosyltransferase 1
  2. NM_172236.2NP_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/Swiss-Prot
    Q9H488
    Related
    ENSP00000364882.3, ENST00000375730.3
    Conserved Domains (1) summary
    cl16914
    Location:30181
    O-FucT_like; GDP-fucose protein O-fucosyltransferase and related proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

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

RNA

  1. XR_001754218.2 RNA Sequence

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