POFUT1 - protein O-fucosyltransferase 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23509

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

O-FucT: GDP-fucose protein O-fucosyltransferase (35 - 373)

  • 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

Pre-clinical Phase

Bioactive Molecules (4)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-E70160 Protein O-Fucosyltransferase 1 / Unkown
HY-RS10811 POFUT1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS20191 Pofut1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS26695 Pofut1 Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others POFUT1 NCBI