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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 14 in total

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GO Term	Evidence Code	PMID
angiogenesis	IEA
somitogenesis	IEA
fucose metabolic process	IEA
regulation of DNA-templated transcription	NAS	11698403
regulation of transcription, DNA-templated	NAS	11698403

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 transcription, DNA-templated

regulation of RNA biosynthetic process [inference]

regulation of transcription, DNA-templated

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 transcription, DNA-templated

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of transcription, DNA-templated

regulation of RNA biosynthetic process [inference]

regulation of transcription, DNA-templated

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 transcription, DNA-templated

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of transcription, DNA-templated

regulation of RNA biosynthetic process [inference]

regulation of transcription, DNA-templated

regulation of RNA metabolic process [inference]

regulation of RNA biosynthetic process [inference]

regulation of transcription, DNA-templated

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 transcription, DNA-templated

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 transcription, DNA-templated

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of transcription, DNA-templated

regulation of RNA biosynthetic process [inference]

regulation of transcription, DNA-templated

Displaying **all 4** entries
GO Term	Evidence Code	PMID
endoplasmic reticulum	IDA	15653671
endoplasmic reticulum	IBA
membrane	IDA	11524432 9023546
membrane	HDA	19946888

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

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.

OrthoDB (Group)

Group level

Eukaryota

Group Name

gdp-fucose protein o-fucosyltransferase 1

Functional Category

E: Amino acid transport and metabolism
O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms

Displaying **all 4** entries
Gene Ontology
fucose metabolic process
peptide-O-fucosyltransferase activity
protein O-linked fucosylation
transferase activity

Displaying **all 2** entries
InterPro
GDP-fucose protein O-fucosyltransferase 1
GDP-fucose protein O-fucosyltransferase

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
Caenorhabditis elegans	NP_741744	NM_171649
Mus musculus	NP_536711	NM_080463
Drosophila melanogaster	NP_610931	NM_137087

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: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

RHEA:70539

GDP-β-L-fucose

H⁺ + GDP

Enzyme

2.4.1.221

PMID

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0060256	Dowling-Degos disease	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 19 in total

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HPO ID	HPO Term
HP:0000006	Autosomal dominant inheritance
HP:0000464	Abnormality of the neck
HP:0000962	Hyperkeratosis
HP:0000989	Pruritus
HP:0001034	Hypermelanotic macule
HP:0001155	Abnormality of the hand
HP:0001231	Abnormal fingernail morphology
HP:0001369	Arthritis
HP:0002046	Heat intolerance
HP:0007456	Progressive reticulate hyperpigmentation

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 82 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Xenopus tropicalis	23509	Xenbase:XB-GENE-979243
Xenopus tropicalis	36564	Xenbase:XB-GENE-979243
Mus musculus	140484	Xenbase:XB-GENE-979243	MOUSE31766
Xenopus tropicalis	180607	Xenbase:XB-GENE-979243
Rattus norvegicus	311551	Xenbase:XB-GENE-979243	RATNO28480
Bos taurus	360194		BOVIN05066
Sus scrofa	397627		PIGXX11559
Xenopus tropicalis	398423	Xenbase:XB-GENE-979243
Danio rerio	403029	Xenbase:XB-GENE-979243	DANRE24095
Pan troglodytes	449504		PANTR24605

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Summary

External Links

Annotation

OrthoDB (Group)

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements