2. Gene
  3. RFT1 - RFT1 homolog Gene

RFT1 - RFT1 homolog Gene

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

中文名称：RFT1 同系物

种属: Homo sapiens

同用名: CDG1N

基因 ID: 91869 | 基因类型: protein coding

关于 RFT1

Cytogenetic location: 3p21.1 Genomic coordinates (GRCh38): 3:53,066,853-53,130,435 (from NCBI)

This gene has 4 transcripts (splice variants), 206 orthologues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 1.9), testis (RPKM 1.9) and 25 other tissues.

功能概要

该基因编码一种酶，该酶催化 Man (5) GlcNAc (2) -PP-Dol 中间体在蛋白质 N-糖基化途径中从细胞质转移到内质网膜的腔侧。该基因的突变与 In 型糖基化先天性疾病有关。[RefSeq 提供，2008 年 12 月]

This gene encodes an Enzyme which catalyzes the translocation of the Man(5)GlcNAc (2)-PP-Dol intermediate from the cytoplasmic to the luminal side of the endoplasmic reticulum membrane in the pathway for the N-glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type In.[provided by RefSeq, Dec 2008]

RFT1 基因产物(1)

mRNA Protein Name
NM_052859.4 NP_443091.1 protein RFT1 homolog
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in dolichol-linked oligosaccharide biosynthetic process IMP
IMP: 通过突变表型推断
18313027 GOA
involved in glycolipid translocation IGI
IGI: 通过遗传相互作用推断
18313027 GOA
involved in protein N-linked glycosylation IMP
IMP: 通过突变表型推断
18313027 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in endoplasmic reticulum membrane IGI
IGI: 通过遗传相互作用推断
18313027 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

RFT1 蛋白结构

Rft-1

Rft-1: Rft protein (16 - 509)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 541 a.a.
蛋白主名 其他名称

protein RFT1 homolog

RFT1, requiring fifty three 1 homolog

RFT1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra RFT1 Q96AA3 AQP6 Homo sapiens Q13520
Y2H Prey Pooling
32296183
Intra RFT1 Q96AA3 AQP6 Homo sapiens Q13520
Y2H Array
32296183
Intra RFT1 Q96AA3 MUC1 Homo sapiens P15941-11
Y2H Array
32296183
Intra RFT1 Q96AA3 MUC1 Homo sapiens P15941-11
Y2H Prey Pooling
32296183
Intra RFT1 Q96AA3 BEST2 Homo sapiens Q8NFU1
Y2H Array
32296183
Intra RFT1 Q96AA3 BEST2 Homo sapiens Q8NFU1
Y2H Prey Pooling
32296183
Intra RFT1 Q96AA3 RNF144A Homo sapiens P50876
Y2H Prey Pooling
32296183
Intra RFT1 Q96AA3 TSPAN12 Homo sapiens O95859
Y2H Prey Pooling
32296183
Intra RFT1 Q96AA3 TSPAN12 Homo sapiens O95859
Y2H Array
32296183
Intra RFT1 Q96AA3 CNR2 Homo sapiens P34972
Y2H Prey Pooling
32296183
Intra RFT1 Q96AA3 CNR2 Homo sapiens P34972
Y2H Array
32296183
Intra RFT1 Q96AA3 TMX2 Homo sapiens Q9Y320
Y2H Prey Pooling
32296183
Intra RFT1 Q96AA3 TMX2 Homo sapiens Q9Y320
Y2H Array
32296183
Intra RFT1 Q96AA3 TMX2 Homo sapiens Q9Y320
Validated Y2H
32296183
Intra RFT1 Q96AA3 CREB3L1 Homo sapiens Q96BA8
Y2H Array
32296183
Intra RFT1 Q96AA3 CREB3L1 Homo sapiens Q96BA8
Validated Y2H
32296183
Intra RFT1 Q96AA3 CREB3L1 Homo sapiens Q96BA8
Y2H Prey Pooling
32296183
Intra RFT1 Q96AA3 ERGIC3 Homo sapiens Q9Y282
Y2H Prey Pooling
32296183
Intra RFT1 Q96AA3 ERGIC3 Homo sapiens Q9Y282
Validated Y2H
32296183
Intra RFT1 Q96AA3 ERGIC3 Homo sapiens Q9Y282
Y2H Array
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS11876 RFT1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus RFT1 RGD RGD:1562654
Mus musculus RFT1 MGD MGI:3607791
Felis catus RFT1 VGNC VGNC:102684
Canis familiaris RFT1 VGNC VGNC:108254
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