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protein O-fucosyltransferase 1

Summary

Gene Symbol

POFUT1

Aliases

FUT12
GDP-fucose protein O-fucosyltransferase 1
KIAA0180
O-FUT
O-Fuc-T
peptide-O-fucosyltransferase

Organism

Homo sapiens (human)

External Links

NCBI Gene

23509

GGDB ID

gg012

HGNC

14988

mRNA

NM_015352

map

20q11

Protein

NP_056167

OMIM

607491

KEGG Gene ID

hsa:23509

PubChem

23509

Alliance of Genome Resources

HGNC:14988

Annotation

Keyword

3D-structure
Alternative splicing
Disulfide bond
Endoplasmic reticulum
Fucose metabolism
Glycoprotein
Glycosyltransferase
Manganese
Notch signaling pathway
Reference proteome
Signal

Proteins

Displaying 1 entry
UniProt	Protein Name
Q9H488	Peptide-O-fucosyltransferase 1

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 12 in total

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GO Term	Evidence Code	PMID
regulation of transcription, DNA-templated	NAS	11698403
protein O-linked glycosylation	IDA	11524432 9023546
angiogenesis	IEA
somitogenesis	IEA
nervous system development	IEA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

primary metabolic process [inference]

carbohydrate metabolic process [inference]

monosaccharide metabolic process [inference]

hexose metabolic process [inference]

fucose metabolic process

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

small molecule metabolic process [inference]

monosaccharide metabolic process [inference]

hexose metabolic process [inference]

fucose metabolic process

glycosylation [inference]

fucosylation [inference]

protein O-linked fucosylation

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein O-linked glycosylation

organic substance metabolic process [inference]

carbohydrate metabolic process [inference]

monosaccharide metabolic process [inference]

hexose metabolic process [inference]

fucose metabolic process

macromolecule metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

macromolecule modification [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein O-linked glycosylation

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

Notch signaling pathway

multicellular organismal process [inference]

pattern specification process [inference]

regionalization [inference]

anterior/posterior pattern specification [inference]

somitogenesis

segmentation [inference]

somitogenesis

developmental process [inference]

anatomical structure formation involved in morphogenesis [inference]

anatomical structure development [inference]

animal organ development [inference]

heart development

system development [inference]

nervous system development

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of DNA-templated transcription

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription

regulation of cellular metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

regulation of RNA metabolic process [inference]

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of DNA-templated transcription

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription

regulation of nitrogen compound metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

regulation of RNA metabolic process [inference]

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of DNA-templated transcription

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription

regulation of RNA metabolic process [inference]

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription

regulation of primary metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

regulation of RNA metabolic process [inference]

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription

regulation of signaling [inference]

regulation of signal transduction [inference]

regulation of Notch signaling pathway

regulation of response to stimulus [inference]

regulation of signal transduction [inference]

regulation of Notch signaling pathway

regulation of cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

Notch signaling pathway

regulation of cell communication [inference]

regulation of signal transduction [inference]

regulation of Notch signaling pathway

regulation of cellular metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

regulation of RNA metabolic process [inference]

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of DNA-templated transcription

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription

Displaying **all 2** entries
GO Term	Evidence Code	PMID
endoplasmic reticulum	IBA IDA	15653671
membrane	HDA IDA	11524432 19946888 9023546

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

Displaying **all 2** entries
GO Term	Evidence Code	PMID
peptide-O-fucosyltransferase activity	IBA IDA TAS	11698403 15653671
fucosyltransferase activity	IDA	11524432 9023546

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity [inference]

hexosyltransferase activity [inference]

fucosyltransferase activity

peptide-O-fucosyltransferase activity

catalytic activity, acting on a protein [inference]

peptide-O-fucosyltransferase activity

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000101346

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

GlycoGene Database (GGDB)

GGDB ID

gg012

Gene Symbol

POFUT1

Orthologous Gene

Displaying **all 4** entries
Species	Protein	mRNA
Rattus norvegicus	NP_001002278	NM_001002278
Drosophila melanogaster	NP_610931	NM_137087
Caenorhabditis elegans	NP_741744	NM_171649
Mus musculus	NP_536711	NM_080463

KEGG BRITE Database

Orthology

K03691

Name

peptide-O-fucosyltransferase [EC:2.4.1.221]

References

11524432

Rhea

RHEA:63644

GDP-β-L-fucose

H⁺ + GDP

Enzyme

2.4.1.221

PMID

RHEA:70539

GDP-β-L-fucose

H⁺ + GDP

Enzyme

2.4.1.221

PMID

RHEA:70491

GDP-β-L-fucose

H⁺ + GDP

Enzyme

2.4.1.221

PMID

RHEA:70535

GDP-β-L-fucose

H⁺ + GDP

Enzyme

2.4.1.221

PMID

Disease

Disease Ontology

Displaying entries **1 - 10** of 35 in total

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DO ID	Disease Name	Source
DOID:0060256	Dowling-Degos disease	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060258	reticulate acropigmentation of Kitamura	DisGeNET DisGeNET
DOID:0060262	gallbladder disease	DisGeNET
DOID:0080199	colorectal carcinoma	DisGeNET
DOID:10907	microcephaly	DisGeNET
DOID:11843	coronary artery anomaly	DisGeNET
DOID:11847	coronary thrombosis	DisGeNET
DOID:1324	lung cancer	DisGeNET
DOID:1325	bronchus cancer	DisGeNET
DOID:1612	breast cancer	DisGeNET DisGeNET

The Human Phenotype Ontology

Displaying entries **11 - 19** of 19 in total

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HPO ID	HPO Term
HP:0007502	Follicular hyperkeratosis
HP:0007588	Reticular hyperpigmentation
HP:0009123	Mixed hypo- and hyperpigmentation of the skin
HP:0009719	Hypomelanotic macule
HP:0010610	Palmar pits
HP:0011354	Generalized abnormality of skin
HP:0012855	Scrotal hyperpigmentation
HP:0200037	Skin vesicle
HP:0200040	Epidermoid cyst

Displaying **all 2** entries
Disease ID	Disease Name
OMIM:615327	Dowling-Degos disease 2
ORPHA:79145	Dowling-Degos disease

PubChem Disease

GHR Health Conditions

Dowling-Degos disease

MedGen Diseases

Dowling-Degos disease 2

OMIM Phenotypes

DOWLING-DEGOS DISEASE 2; DDD2

KEGG Diseases

Dowling-Degos disease

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying entries **1 - 10** of 81 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	180607	WB:WBGene00015793
Drosophila melanogaster	36564	FB:FBgn0033901
Danio rerio	403029	ZFIN:ZDB-GENE-040303-2	DANRE24095
Astyanax mexicanus	103035639		ASTMX06695
Ictalurus punctatus	108276463		ICTPU07657
Salmo salar	106572825		SALSA41482
Salmo trutta	115165365		SALTR86761
Gadus morhua	115548443		GADMO28878
Oryzias latipes	100125467		ORYLA15495
Oreochromis niloticus	100700240		ORENI36682

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements