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

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; 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

Location:: 20q11.21

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (32207880..32238658)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (33931803..33962575)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (30795683..30826461)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Preliminary study on the mechanism of POFUT1 in colorectal cancer.
Title: Preliminary study on the mechanism of POFUT1 in colorectal cancer.
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.
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.
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.
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.
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.
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.
we revealed that poFUT1 was increased in the secretory phase compared to the proliferative phase. Meanwhile, poFUT1 was expressed at lower levels in the uterine endometrium of miscarriage patients than that in normal early pregnancies. Moreover, we provides novel evidence showing that poFUT1 controls the O-fucosylation and activation ofNotch1.
Title: poFUT1 promotes endometrial decidualization by enhancing the O-fucosylation of Notch1.

Submit: New GeneRIF Correction See all GeneRIFs (27)

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)

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

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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

D1S1425 (e-PCR)
- UniSTS:149621

POFUT1_9356 (e-PCR)
- UniSTS:468611

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 more info	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

EC 2.4.1.221

NP_758436.1

EC 2.4.1.221

XP_047296035.1

EC 2.4.1.221

XP_054179274.1

EC 2.4.1.221

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

NG_033906.1 RefSeqGene

Range

4988..35766

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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