2. Gene
  3. EDEM1 - ER degradation enhancing alpha-mannosidase like protein 1 Gene

EDEM1 - ER degradation enhancing alpha-mannosidase like protein 1 Gene

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

中文名称：ER 降解增强α-甘露糖苷酶样蛋白 1

种属: Homo sapiens

同用名: EDEM

基因 ID: 9695 | 基因类型: protein coding

关于 EDEM1

Cytogenetic location: 3p26.1 Genomic coordinates (GRCh38): 3:5,187,707-5,219,958 (from NCBI)

This gene has 7 transcripts (splice variants), 205 orthologues and 6 paralogues. Ubiquitous expression in bone marrow (RPKM 22.7), lymph node (RPKM 21.0) and 25 other tissues.

功能概要

启用甘露糖寡糖 1,2-α-甘露糖苷酶活性和错误折叠的蛋白质结合活性。参与糖蛋白 ERAD 通路甘露糖修剪；逆行蛋白质转运的正调节，ER 到胞质溶胶；和靶向 ER 的蛋白质。位于聚集体和内质网质控室。 [由基因组资源联盟提供，2022 年 4 月]

Enables mannosyl-oligosaccharide 1,2-alpha-mannosidase activity and misfolded protein binding activity. Involved in mannose trimming involved in glycoprotein ERAD pathway; positive regulation of retrograde protein transport, ER to cytosol; and protein targeting to ER. Located in aggresome and endoplasmic reticulum quality control compartment. [provided by Alliance of Genome Resources, Apr 2022]

EDEM1 基因产物(1)

mRNA Protein Name
NM_014674.3 NP_055489.1 ER degradation-enhancing alpha-mannosidase-like protein 1
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
NOT enables mannosyl-oligosaccharide 1,2-alpha-mannosidase activity IDA
IDA: 通过直接分析推断
12610306 GOA
enables mannosyl-oligosaccharide 1,2-alpha-mannosidase activity IMP
IMP: 通过突变表型推断
25092655 GOA
enables misfolded protein binding IDA
IDA: 通过直接分析推断
19524542 GOA
enables misfolded protein binding IMP
IMP: 通过突变表型推断
23233672 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16449189 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in ERAD pathway IMP
IMP: 通过突变表型推断
21062743 GOA
involved in mannoprotein catabolic process IMP
IMP: 通过突变表型推断
25092655 GOA
involved in positive regulation of retrograde protein transport, ER to cytosol IGI
IGI: 通过遗传相互作用推断
24200403 GOA
involved in positive regulation of retrograde protein transport, ER to cytosol IMP
IMP: 通过突变表型推断
24200403 GOA
involved in protein targeting to ER IMP
IMP: 通过突变表型推断
23233672 GOA
involved in ubiquitin-dependent protein catabolic process IMP
IMP: 通过突变表型推断
25092655 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
24200403 GOA
located in endoplasmic reticulum IMP
IMP: 通过突变表型推断
21062743 GOA
located in endoplasmic reticulum quality control compartment IDA
IDA: 通过直接分析推断
23233672 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

EDEM1 蛋白结构

Glyco_hydro_47

Glyco_hydro_47: Glycosyl hydrolase family 47 (137 - 584)

  • 0
  • 200
  • 400
  • 600
  • 657 a.a.
蛋白主名 其他名称

ER degradation-enhancing alpha-mannosidase-like protein 1

ER degradation enhancer, mannosidase alpha-like 1

关联疾病

疾病名称 别名
Long Qt Syndrome

Romano-Ward Syndrome

Long Q-T Syndrome

Lqt

Qt Syndrome, Long

Congenital Long Qt Syndrome

Familial Long Qt Syndrome
Adult Hepatocellular Carcinoma

Adult Primary Hepatocellular Carcinoma

Adult Hepatoma

Adult Hcc
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1
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 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-131986 LASSBio-1135 Antagonist 99.05% 否
HY-RS04157 EDEM1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris EDEM1 VGNC VGNC:40194
Bos taurus EDEM1 VGNC VGNC:28322
Macaca mulatta EDEM1 VGNC VGNC:110370
Felis catus EDEM1 VGNC VGNC:61722
Rattus norvegicus EDEM1 RGD RGD:1563633
Mus musculus EDEM1 MGD MGI:2180139
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