2. Gene
  3. EMC10 - ER membrane protein complex subunit 10 Gene

EMC10 - ER membrane protein complex subunit 10 Gene

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

中文名称：ER 膜蛋白复合亚基 10

种属: Homo sapiens

同用名: HSM1; HSS1; NEDDFAS; C19orf63

基因 ID: 284361 | 基因类型: protein coding

关于 EMC10

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:50,476,507-50,490,871 (from NCBI)

This gene has 8 transcripts (splice variants), 182 orthologues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 28.0), testis (RPKM 24.5) and 25 other tissues.

功能概要

有助于膜插入酶活性。参与血管生成的正向调节；内皮细胞增殖的正向调节；和蛋白质插入 ER 膜。位于胞外区。是内质网膜的组成部分。 EMC 复合体的一部分。 [由基因组资源联盟提供，2022 年 4 月]

Contributes to membrane insertase activity. Involved in positive regulation of angiogenesis; positive regulation of endothelial cell proliferation; and protein insertion into ER membrane. Located in extracellular region. Is integral component of endoplasmic reticulum membrane. Part of EMC complex. [provided by Alliance of Genome Resources, Apr 2022]

EMC10 基因产物(2)

mRNA Protein Name
NM_175063.6 NP_778233.4 ER membrane protein complex subunit 10 isoform 1 precursor
NM_206538.4 NP_996261.1 ER membrane protein complex subunit 10 isoform 2 precursor
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
contributes to membrane insertase activity IMP
IMP: 通过突变表型推断
29809151 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of angiogenesis IMP
IMP: 通过突变表型推断
28931551 GOA
involved in positive regulation of endothelial cell proliferation IDA
IDA: 通过直接分析推断
28931551 GOA
involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence IDA
IDA: 通过直接分析推断
29242231 GOA
involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence IMP
IMP: 通过突变表型推断
29809151 GOA
involved in tail-anchored membrane protein insertion into ER membrane IDA
IDA: 通过直接分析推断
29242231 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of EMC complex IDA
IDA: 通过直接分析推断
22119785 GOA
part of EMC complex IPI
IPI: 通过物理相互作用推断
32439656 GOA
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
32439656 GOA
located in extracellular region IDA
IDA: 通过直接分析推断
28931551 GOA
located in membrane IDA
IDA: 通过直接分析推断
22119785 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
蛋白主名 其他名称

ER membrane protein complex subunit 10

UPF0510 protein INM02

关联疾病

疾病名称 别名
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures

NEDDFAS
Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder
Myocardial Infarction

Heart Attack

Myocardial Infarction, Susceptibility To

Myocardial Infarction 1

Myocardial Infarction, Protection Against

Myocardial Infarction, Decreased Susceptibility To

Myocardial Infarction, Decreased

Myocardial Infarct

MCI1

Premature Myocardial Infarction

Myocardial Infarction, Susceptibility To, Type 1
Atrial Septal Defect 1

ASD1

Atrial Heart Septal Defect 1

Asd
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-RS04336 EMC10 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus EMC10 VGNC VGNC:61832
Rattus norvegicus EMC10 RGD RGD:1303214
Bos taurus EMC10 VGNC VGNC:28462
Mus musculus EMC10 MGD MGI:1916933
Canis familiaris EMC10 VGNC VGNC:40332
Macaca mulatta EMC10 VGNC VGNC:103812
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