1. Gene
  2. EFS - embryonal Fyn-associated substrate Gene

EFS - embryonal Fyn-associated substrate Gene

中文名称:胚胎 Fyn 相关底物

种属: Homo sapiens

同用名: SIN; CAS3; EFS1; EFS2; HEFS; CASS3

基因 ID: 10278 | 基因类型: protein coding

关于 EFS

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:23,356,406-23,365,172 (from NCBI)

This gene has 3 transcripts (splice variants), 184 orthologues and 3 paralogues. Broad expression in skin (RPKM 22.8), ovary (RPKM 15.1) and 22 other tissues.

功能概要

由该基因编码的蛋白质是 CAS (CRK 相关底物) 衔接蛋白家族的成员,通常用作组装较大信号复合物的支架。这些复合物在细胞表面形成,整合素结合导致 CAS 蛋白随后发生磷酸化。 Src 家族激酶的额外结合会导致 CAS 过度磷酸化,并为 CRK 和其他引起肌动蛋白细胞骨架重组的蛋白质创建结合位点。该基因在整合素介导的细胞附着、扩散和迁移中发挥作用,还在正常和恶性细胞转化中发挥作用。这种广泛表达的基因已被证明在神经突生长中发挥作用,其在胸腺和淋巴细胞中的表达对于 T 细胞成熟和免疫自身耐受的发展很重要。该基因的可变剪接导致编码不同亚型的多个转录变体。[RefSeq 提供,2020 年 7 月]

The protein encoded by this gene is a member of the CAS (CRK-associated substrate) family of adaptor proteins which typically serve as scaffolds for the assembly of larger signaling complexes. These complexes form at the cell surface where Integrin binding leads to the subsequent phosphorylation of a CAS protein. Additional binding of Src family kinases leads to CAS hyperphosphorylation and the creation of binding sites for CRK and other proteins that cause actin Cytoskeleton reorganization. This gene plays a role in integrin-mediated cell attachment, spreading, and migration and also plays a role in both normal and malignant cellular transformation. This broadly expressed gene has been shown to play a role in neurite outgrowth and its expression in the thymus and lymphocytes is important for T cell maturation and the development of immunological self-tolerance. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2020]

EFS 基因产物(4)

mRNA Protein Name
NM_001277174.2 NP_001264103.1 embryonal Fyn-associated substrate isoform 3
NM_001385607.1 NP_001372536.1 embryonal Fyn-associated substrate isoform 4
NM_005864.4 NP_005855.1 embryonal Fyn-associated substrate isoform 1
NM_032459.3 NP_115835.1 embryonal Fyn-associated substrate isoform 2
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
enables protein domain specific binding IPI
IPI: 通过物理相互作用推断
11984006 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

EFS 蛋白结构

SH3_9

SH3_9: Variant SH3 domain (12 - 63)

DUF3513

DUF3513: Domain of unknown function (DUF3513) (365 - 556)

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  • 500
  • 561 a.a.
蛋白主名 其他名称

embryonal Fyn-associated substrate

Cas scaffolding protein family member 3

EFS 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 EFS O43281 NUP155 Homo sapiens O75694
Y2H Prey Pooling
25416956
Intra EFS O43281 NUP155 Homo sapiens O75694
Validated Y2H
25416956
Intra EFS O43281 NUP155 Homo sapiens O75694
Y2H Array
25416956
Intra EFS O43281 OSTF1 Homo sapiens Q92882
Validated Y2H
25416956
Intra EFS O43281 OSTF1 Homo sapiens Q92882
Y2H Prey Pooling
25416956
Intra EFS O43281 OSTF1 Homo sapiens Q92882
Y2H Array
25416956
Intra EFS O43281 BLK Homo sapiens P51451
Y2H Array
31515488
Intra EFS O43281 BLK Homo sapiens P51451
Y2H Array
29892012
Intra EFS O43281 SORBS2 Homo sapiens O94875
Y2H Array
25416956
Intra EFS O43281 SORBS2 Homo sapiens O94875
Y2H Prey Pooling
25416956
Intra EFS O43281 FYN Homo sapiens P06241
Y2H Prey Pooling
25416956
Intra EFS O43281 FYN Homo sapiens P06241
Validated Y2H
25416956
Intra EFS O43281 FYN Homo sapiens P06241
Y2H Array
25416956
Intra EFS O43281 TSSK1B Homo sapiens Q9BXA7
Y2H Prey Pooling
25416956
Intra EFS O43281 ZNF417 Homo sapiens Q8TAU3
Validated Y2H
25416956
Intra EFS O43281 ABI2 Homo sapiens Q9NYB9
Validated Y2H
25416956
Intra EFS O43281 ABI2 Homo sapiens Q9NYB9
Y2H Array
29892012
Intra EFS O43281 ABI2 Homo sapiens Q9NYB9
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
Hymenolepiasis

Dwarf Tapeworm Infection

Hymenolepis Infectious Disease

Hymenolepsis Infection

Hyemolepis Nana Infection

Hymenolepiosis

Hymenolepis Infection

Dwarf Tapeworm

Hymenolepidosis

Hymenolepis Infestation

Cone-Rod Dystrophy, X-Linked, 1

CORDX1

X-Linked Cone-Rod Dystrophy 1

Cod1

Cone Dystrophy X-Linked 1

X-Linked Cone Dystrophy 1

Cone-Rod Dystrophy X-Linked 1

Cone-Rod Dystrophy, X-Linked 1

Dystrophy, Cone-Rod, X-Linked, Type 1

Cone Dystrophy, X-Linked, 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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta EFS VGNC VGNC:72056
Bos taurus EFS VGNC VGNC:28363
Felis catus EFS VGNC VGNC:61753
Canis familiaris EFS VGNC VGNC:40233
Rattus norvegicus EFS RGD RGD:1308966
Mus musculus EFS MGD MGI:105311