2. Gene
  3. POFUT1 - protein O-fucosyltransferase 1 Gene

POFUT1 - protein O-fucosyltransferase 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：蛋白 O-岩藻糖基转移酶 1

种属: Homo sapiens

同用名: DDD2; FUT12; O-FUT; OFUCT1; O-Fuc-T; O-FucT-1

基因 ID: 23509 | 基因类型: protein coding

关于 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.

功能概要

该基因编码糖基转移酶 O-Fuc 家族的一个成员。这种酶通过 O-糖苷键将 O-岩藻糖添加到许多细胞表面和分泌蛋白的表皮生长因子样重复中的保守丝氨酸或苏氨酸残基。 O-岩藻糖聚糖参与配体诱导的受体信号传导。该基因的可变剪接导致编码不同亚型的两个转录变体。[RefSeq 提供，2008 年 7 月]

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 基因产物(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 蛋白结构

O-FucT

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

  • 0
  • 100
  • 200
  • 300
  • 388 a.a.
蛋白主名 其他名称

GDP-fucose protein O-fucosyltransferase 1

o-fucosyltransferase protein

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (4)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-E70160 Protein O-Fucosyltransferase 1 / 否
HY-RS10811 POFUT1 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS20191 Pofut1 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS26695 Pofut1 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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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