2. Gene
  3. EDEM3 - ER degradation enhancing alpha-mannosidase like protein 3 Gene

EDEM3 - ER degradation enhancing alpha-mannosidase like protein 3 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 3

种属: Homo sapiens

同用名: CDG2V; C1orf22

基因 ID: 80267 | 基因类型: protein coding

关于 EDEM3

Cytogenetic location: 1q25.3 Genomic coordinates (GRCh38): 1:184,690,237-184,754,858 (from NCBI)

This gene has 18 transcripts (splice variants), 215 orthologues, 6 paralogues and is associated with 2 phenotypes. Ubiquitous expression in stomach (RPKM 15.9), colon (RPKM 13.5) and 25 other tissues.

功能概要

内质网 (ER) 中的质量控制通过识别和降解错误折叠或未组装的蛋白质，确保只有正确折叠的蛋白质保留在细胞中。 EDEM3 属于一组加速 ER 中错误折叠糖蛋白降解的蛋白质 (Hirao 等人，2006 [PubMed 16431915]) 。[OMIM 提供，2008 年 3 月]

Quality control in the endoplasmic reticulum (ER) ensures that only properly folded proteins are retained in the cell through recognition and degradation of misfolded or unassembled proteins. EDEM3 belongs to a group of proteins that accelerate degradation of misfolded glycoproteins in the ER (Hirao et al., 2006 [PubMed 16431915]).[supplied by OMIM, Mar 2008]

EDEM3 基因产物(2)

mRNA Protein Name
NM_001319960.2 NP_001306889.1 ER degradation-enhancing alpha-mannosidase-like protein 3 isoform 1 precursor
NM_025191.4 NP_079467.3 ER degradation-enhancing alpha-mannosidase-like protein 3 isoform 2 precursor
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables mannosyl-oligosaccharide 1,2-alpha-mannosidase activity IMP
IMP: 通过突变表型推断
25092655 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
25092655 GOA
involved in mannoprotein catabolic process IMP
IMP: 通过突变表型推断
25092655 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

EDEM3 蛋白结构

Glyco_hydro_47

Glyco_hydro_47: Glycosyl hydrolase family 47 (59 - 497)

PA

PA: PA domain (677 - 778)

  • 0
  • 200
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  • 800
  • 932 a.a.
蛋白主名 其他名称

ER degradation-enhancing alpha-mannosidase-like protein 3

ER degradation enhancer, mannosidase alpha-like 3

关联疾病

疾病名称 别名
Congenital Disorder Of Glycosylation, Type 2v

CDG2V

Congenital Disorder Of Glycosylation, Type Iiv

Congenital Disorder Of Glycosylation 2v
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS04159 EDEM3 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS22479 Edem3 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS29002 Edem3 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus EDEM3 RGD RGD:1561496
Macaca mulatta EDEM3 VGNC VGNC:72055
Mus musculus EDEM3 MGD MGI:1914217
Bos taurus EDEM3 VGNC VGNC:28324
Canis familiaris EDEM3 VGNC VGNC:40196
Felis catus EDEM3 VGNC VGNC:61724
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