POFUT1 - protein O-fucosyltransferase 1 Gene

Homo sapiens

Also known as DDD2; FUT12; O-FUT; OFUCT1; O-Fuc-T; O-FucT-1

Gene ID: 23509 | Gene type: protein coding

About POFUT1

Cytogenetic location: 20q11.21 Genomic coordinates (GRCh38): 20:32,207,880-32,238,658 (from NCBI)

This gene has 5 transcripts (splice variants), 202 orthologues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 10.9), small intestine (RPKM 10.7) and 25 other tissues.

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]

POFUT1 Products(2)

mRNA	Protein	Name
NM_015352.2	NP_056167.1	GDP-fucose protein O-fucosyltransferase 1 isoform 1 precursor
NM_172236.2	NP_758436.1	GDP-fucose protein O-fucosyltransferase 1 isoform 2 precursor

POFUT1 Protein Structure

O-FucT

0
100
200
300
388 a.a.

Protein Preferred Names

Protein Names

GDP-fucose protein O-fucosyltransferase 1

o-fucosyltransferase protein

Related Diseases

Diseases

Alias

Dowling-Degos Disease 2

DDD2

Dowling-Degos Disease

Reticular Pigment Anomaly Of Flexures	Dark Dot Disease
Reticulate Acropigmentation Of Kitamura	Dowling-Degos Kitamura Disease
Kitamura Reticulate Acropigmentation	Ddd
Dowling-Degos-Kitamura Disease	Reticular Pigmented Anomaly Of Flexures

Reticulate Acropigmentation Of Kitamura

RAK	Acropigmentatio Reticularis
Reticulate Pigmentation Of Kitamura	Rpk
Kitamura Reticulate Acropigmentation	Rapk

Focal Segmental Glomerulosclerosis 3

FSGS3	Focal Segmental Glomerulosclerosis 3, Susceptibility To
Glomerulosclerosis, Focal Segmental, 3	Glomerulosclerosis, Focal Segmental, 3, Susceptibility To
Glomerulosclerosis, Segmental, Focal, Type 3, Susceptibility To

Spondylocostal Dysostosis 3, Autosomal Recessive

SCDO3	Spondylocostal Dysostosis, Autosomal Recessive 3
Spondylocostal Dysostosis 3	Autosomal Recessive Spondylocostal Dysostosis 3
Doid:0112361	Dysostosis, Spondylocostal, Autosomal Recessive, Type 3
Jarcho-Levin Syndrome

Pigmentation Disease

Pigmentation Disorders

Skin Pigmentation Disorder

Spondylocostal Dysostosis

Jarcho-Levin Syndrome	Costovertebral Dysplasia
Spondylothoracic Dysostosis	Spondylothoracic Dysplasia
Scdo	Dysostosis, Spondylocostal

Peters-Plus Syndrome

Krause-Kivlin Syndrome	Peters Plus Syndrome
Peters Anomaly	Irido-Corneo-Trabecular Dysgenesis
PTRPLS	Peters Anomaly With Short-Limb Dwarfism
Peters Anomaly-Short Limb Dwarfism Syndrome	Peters Anomaly With Short Limb Dwarfism
Peters Congenital Glaucoma	Krause-Van Schooneveld-Kivlin Syndrome
Peters' Plus Syndrome	Peters'-Plus Syndrome
Anomaly Peters

Adams-Oliver Syndrome

Adams Oliver Syndrome	Aos
Congenital Scalp Defects With Distal Limb Reduction Anomalies	Aplasia Cutis Congenita With Terminal Transverse Limb Defects
Congenital Scalp Defects With Distal Limb Anomalies	Limb, Scalp And Skull Defects
Limb Scalp And Skull Defects	Absence Defect Of Limbs, Scalp, And Skull

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation	CDG1N
Congenital Disorders Of Glycosylation	Cdg In
Cdgin	Congenital Disorder Of Glycosylation 1n
Carbohydrate-Deficient Glycoprotein Syndrome	Cdg
Rft1-Cdg	Cdg-In
Congenital Disorder Of Glycosylation Type In	Carbohydrate Deficient Glycoprotein Syndrome
Cdg Syndrome	Congenital Disorder Of Glycosylation In
Carbohydrate-Deficient Glycoprotein Syndromes	Cdg Syndrome Type In
Carbohydrate Deficient Glycoprotein Syndrome Type In	Congenital Disorder Of Glycosylation Type 1n
Man5glcnac2-Pp-Dol Flippase Deficiency	Glycosylation, Congenital Disorder Of
Glycosylation, Congenital Disorder Of, Type In

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-E70160	Protein O-Fucosyltransferase 1		/	Unkown
HY-RS10811	POFUT1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	POFUT1	VGNC	VGNC:33105
Mus musculus	POFUT1	MGD	MGI:2153207
Canis familiaris	POFUT1	VGNC	VGNC:44767
Rattus norvegicus	POFUT1	RGD	RGD:1303001
Macaca mulatta	POFUT1	VGNC	VGNC:76030
Felis catus	POFUT1	VGNC	VGNC:64277

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