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  2. SVIL - supervillin Gene

SVIL - supervillin Gene

中文名称:超级恶棍

种属: Homo sapiens

同用名: MFM10

基因 ID: 6840 | 基因类型: protein coding

关于 SVIL

Cytogenetic location: 10p11.23 Genomic coordinates (GRCh38): 10:29,457,338-29,736,936 (from NCBI)

This gene has 16 transcripts (splice variants), 284 orthologues, 7 paralogues and is associated with 1 phenotype. Broad expression in heart (RPKM 40.9), esophagus (RPKM 29.0) and 21 other tissues.

功能概要

该基因编码具有不同氨基和羧基末端结构域的二分蛋白。氨基末端包含核定位信号,羧基末端包含许多连续序列,与肌动蛋白结合蛋白的凝溶胶蛋白家族中的蛋白质具有广泛的相似性,可加盖、成核和/或切断肌动蛋白丝。该基因产物与肌动蛋白丝和质膜紧密相关,表明其在肌动蛋白细胞骨架和膜之间具有高亲和力联系。编码的蛋白质似乎有助于细胞扩散和粘着斑分解过程中的肌球蛋白 II 组装。已经描述了几种编码不同同种型 supervillin 的转录物变体。[RefSeq 提供,2016 年 4 月]

This gene encodes a bipartite protein with distinct amino- and carboxy-terminal domains. The amino-terminus contains nuclear localization signals and the carboxy-terminus contains numerous consecutive sequences with extensive similarity to proteins in the gelsolin family of actin-binding proteins, which cap, nucleate, and/or sever actin filaments. The gene product is tightly associated with both actin filaments and plasma membranes, suggesting a role as a high-affinity link between the actin Cytoskeleton and the membrane. The encoded protein appears to aid in both Myosin II assembly during cell spreading and disassembly of focal adhesions. Several transcript variants encoding different isoforms of supervillin have been described. [provided by RefSeq, Apr 2016]

SVIL 基因产物(4)

mRNA Protein Name
NM_001323599.2 NP_001310528.1 supervillin isoform 3
NM_001323600.1 NP_001310529.1 supervillin isoform 4
NM_003174.3 NP_003165.2 supervillin isoform 1
NM_021738.3 NP_068506.2 supervillin isoform 2
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 actin filament binding IDA
IDA: 通过直接分析推断
12711699 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
18639526 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in skeletal muscle tissue development IMP
IMP: 通过突变表型推断
12711699 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in costamere IDA
IDA: 通过直接分析推断
12711699 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
12711699 GOA
located in nucleus IDA
IDA: 通过直接分析推断
12711699 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
12711699 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

SVIL 蛋白结构

Gelsolin

Gelsolin: Gelsolin repeat (1460 - 1504)

VHP

VHP: Villin headpiece domain (2179 - 2214)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2214 a.a.
蛋白主名 其他名称

supervillin

archvillin

SVIL 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
种属内
SVIL O95425 NEB Homo sapiens P20929
Y2H
18639526
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
Myofibrillar Myopathy 10

MFM10

Myopathy, Myofibrillar, 10

Myofibrillar Myopathy

Desmin Related Myopathy

Myotilinopathy

Myopathy, Myofibrillar

Alpha Beta Crystallinopathy

Desmin Storage Myopathy

Desminopathy

Filaminopathy

Protein Surplus Myopathy

Zaspopathy

Myofibrillar Myopathies

Myopathy, Myofibrillar, Desmin-Related

Myopathy, Desmin Storage

Mfm - [Myofibrillar Myopathy]

Myopathy

Muscular Diseases

Myopathies

Frontometaphyseal Dysplasia

Fmd

Dysplasia, Frontometaphyseal

Scoliosis
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

直系同源

种属 基因名 来源 基因 ID
Felis catus SVIL VGNC VGNC:65864
Bos taurus SVIL VGNC VGNC:103722
Canis familiaris SVIL VGNC VGNC:47007
Mus musculus SVIL MGD MGI:2147319
Rattus norvegicus SVIL RGD RGD:1306354