2. Gene
  3. EMILIN1 - elastin microfibril interfacer 1 Gene

EMILIN1 - elastin microfibril interfacer 1 Gene

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

中文名称：弹性蛋白微纤维接口 1

种属: Homo sapiens

同用名: EMI; HMN10; gp115; EMILIN

基因 ID: 11117 | 基因类型: protein coding

关于 EMILIN1

Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38): 2:27,078,615-27,086,403 (from NCBI)

This gene has 2 transcripts (splice variants), 259 orthologues, 4 paralogues and is associated with 1 phenotype. Broad expression in endometrium (RPKM 33.6), prostate (RPKM 26.6) and 20 other tissues.

功能概要

该基因编码一种细胞外基质糖蛋白，其特征在于 N 末端微纤维界面域、盘绕-螺旋 α 螺旋域、胶原域和 C 末端球状 C1q 域。编码的蛋白质与弹性蛋白和微纤维之间界面处的弹性纤维结合，可能在弹性组织 (包括大血管、真皮、心脏和肺) 的发育中发挥作用。[RefSeq 提供，2009 年 9 月]

This gene encodes an extracellular matrix glycoprotein that is characterized by an N-terminal microfibril interface domain, a coiled-coiled alpha-helical domain, a collagenous domain and a C-terminal globular C1q domain. The encoded protein associates with elastic fibers at the interface between elastin and microfibrils and may play a role in the development of elastic tissues including large blood vessels, dermis, heart and lung. [provided by RefSeq, Sep 2009]

EMILIN1 基因产物(1)

mRNA Protein Name
NM_007046.4 NP_008977.1 EMILIN-1 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
enables identical protein binding IPI
IPI: 通过物理相互作用推断
10821830 GOA
enables integrin binding involved in cell-matrix adhesion IMP
IMP: 通过突变表型推断
18463100 GOA
enables molecular adaptor activity IMP
IMP: 通过突变表型推断
18463100 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11278945 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell migration IMP
IMP: 通过突变表型推断
18463100 GOA
involved in cell-matrix adhesion IMP
IMP: 通过突变表型推断
18463100 GOA
involved in positive regulation of defense response to bacterium IDA
IDA: 通过直接分析推断
17988845 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of EMILIN complex IMP
IMP: 通过突变表型推断
18463100 GOA
part of EMILIN complex IPI
IPI: 通过物理相互作用推断
10821830 GOA
located in collagen-containing extracellular matrix IMP
IMP: 通过突变表型推断
26462740 GOA
located in extracellular space IMP
IMP: 通过突变表型推断
26462740 GOA
part of integrin alpha4-beta1 complex IMP
IMP: 通过突变表型推断
18463100 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

EMILIN1 蛋白结构

EMI

EMI: EMI domain (56 - 127)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (814 - 867)

C1q

C1q: C1q domain (872 - 1007)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1016 a.a.
蛋白主名 其他名称

EMILIN-1

elastin microfibril interface-located protein 1

EMILIN1 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 EMILIN1 Q9Y6C2 BEX5 Homo sapiens Q5H9J7
Y2H Array
31515488
Intra EMILIN1 Q9Y6C2 LAIR2 Homo sapiens Q6ISS4
Y2H Array
25416956
Intra EMILIN1 Q9Y6C2 LAIR2 Homo sapiens Q6ISS4
Y2H Prey Pooling
25416956
Intra EMILIN1 Q9Y6C2 RIBC1 Homo sapiens Q8N443
Y2H Prey Pooling
25416956
Intra EMILIN1 Q9Y6C2 RIBC1 Homo sapiens Q8N443
Validated Y2H
25416956
Intra EMILIN1 Q9Y6C2 RIBC1 Homo sapiens Q8N443
Y2H Array
25416956
Intra EMILIN1 Q9Y6C2 MIA2 Homo sapiens Q96PC5
Y2H Prey Pooling
25416956
Intra EMILIN1 Q9Y6C2 NMI Homo sapiens Q13287
Y2H Prey Pooling
25416956
Intra EMILIN1 Q9Y6C2 PLAC9 Homo sapiens Q5JTB6
Y2H Prey Pooling
25416956
Intra EMILIN1 Q9Y6C2 PLAC9 Homo sapiens Q5JTB6
Validated Y2H
25416956
Intra EMILIN1 Q9Y6C2 PLAC9 Homo sapiens Q5JTB6
Y2H Array
25416956
Intra EMILIN1 Q9Y6C2 PLAC9 Homo sapiens Q5JTB6
MAPPIT
25416956
Intra EMILIN1 Q9Y6C2 PLAC9 Homo sapiens Q5JTB6
Anti Tag CoIP
25416956
Intra EMILIN1 Q9Y6C2 TAX1BP1 Homo sapiens Q86VP1
Y2H Array
25416956
Intra EMILIN1 Q9Y6C2 TAX1BP1 Homo sapiens Q86VP1
Anti Tag CoIP
33961781
Intra EMILIN1 Q9Y6C2 ZC2HC1C Homo sapiens Q53FD0
Validated Y2H
25416956
Intra EMILIN1 Q9Y6C2 ZC2HC1C Homo sapiens Q53FD0
Y2H Array
25416956
Intra EMILIN1 Q9Y6C2 BEX3 Homo sapiens Q00994
Y2H Array
25416956
Intra EMILIN1 Q9Y6C2 MTMR9 Homo sapiens Q96QG7
Y2H Array
29892012
Intra EMILIN1 Q9Y6C2 MTMR9 Homo sapiens Q96QG7
Y2H
21516116
Intra EMILIN1 Q9Y6C2 MTMR9 Homo sapiens Q96QG7
Y2H Pooling
16189514
Intra EMILIN1 Q9Y6C2 MTMR9 Homo sapiens Q96QG7
Y2H Pooling
19447967
Intra EMILIN1 Q9Y6C2 MTMR9 Homo sapiens Q96QG7
Y2H Array
31515488
Intra EMILIN1 Q9Y6C2 MTMR9 Homo sapiens Q96QG7
Y2H Prey Pooling
25416956
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
Neuronopathy, Distal Hereditary Motor, Type X

HMN10

Neuropathy, Distal Hereditary Motor, Type X

Dhmn10
Emilin-1-Related Connective Tissue Disease
Arterial Tortuosity Syndrome

Arterial Tortuosity

Ats

ATORS

Tortuosity, Arterial, Syndrome
Parosteal Osteosarcoma

Juxtacortical Osteosarcoma

Parosteal Osteogenic Sarcoma

Osteosarcoma, Juxtacortical
Peripheral Osteosarcoma

Surface Osteosarcoma

Bone Surface Osteosarcoma
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-RS04350 EMILIN1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus EMILIN1 VGNC VGNC:61845
Bos taurus EMILIN1 VGNC VGNC:28473
Mus musculus EMILIN1 MGD MGI:1926189
Rattus norvegicus EMILIN1 RGD RGD:1311209
Macaca mulatta EMILIN1 VGNC VGNC:72075
Canis familiaris EMILIN1 VGNC VGNC:40343
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