1. Gene
  2. CASC3 - CASC3 exon junction complex subunit Gene

CASC3 - CASC3 exon junction complex subunit Gene

中文名称:CASC3 外显子连接复合体亚基

种属: Homo sapiens

同用名: BTZ; MLN51

基因 ID: 22794 | 基因类型: protein coding

关于 CASC3

Cytogenetic location: 17q21.1 Genomic coordinates (GRCh38): 17:40,140,537-40,172,171 (from NCBI)

This gene has 10 transcripts (splice variants) and 202 orthologues. Ubiquitous expression in testis (RPKM 40.3), endometrium (RPKM 27.3) and 25 other tissues.

功能概要

该基因的产物是外显子连接复合体 (EJC) 的核心成分,EJC 是一种蛋白质复合体,沉积在外显子-外显子连接处的剪接 mRNA 上,并在无义介导的 mRNA 衰变 (NMD) 中发挥作用。编码的蛋白质结合 RNA 并与其他两个 EJC 核心组件相互作用。它主要位于细胞质中,但穿梭到细胞核中,在那里它定位于核斑点。[RefSeq 提供,2008 年 7 月]

The product of this gene is a core component of the exon junction complex (EJC), a protein complex that is deposited on spliced mRNAs at exon-exon junctions and functions in nonsense-mediated mRNA decay (NMD). The encoded protein binds RNA and interacts with two Other EJC core components. It is predominantly located in the cytoplasm, but shuttles into the nucleus where it localizes to nuclear speckles. [provided by RefSeq, Jul 2008]

CASC3 基因产物(1)

mRNA Protein Name
NM_007359.5 NP_031385.2 protein CASC3
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 enzyme binding IPI
IPI: 通过物理相互作用推断
21478859 GOA
enables identical protein binding IDA
IDA: 通过直接分析推断
12080473 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
14973490 GOA
enables ubiquitin protein ligase binding IPI
IPI: 通过物理相互作用推断
21478859 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mRNA splicing, via spliceosome IDA
IDA: 通过直接分析推断
29301961 GOA
involved in regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IDA
IDA: 通过直接分析推断
19478851 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of U2-type catalytic step 1 spliceosome IDA
IDA: 通过直接分析推断
29301961 GOA
part of exon-exon junction complex IDA
IDA: 通过直接分析推断
16601204 GOA
part of exon-exon junction complex IPI
IPI: 通过物理相互作用推断
16931718 GOA
located in nucleus IDA
IDA: 通过直接分析推断
29301961 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

CASC3 蛋白结构

Btz

Btz: CASC3/Barentsz eIF4AIII binding (142 - 247)

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

protein CASC3

MLN 51

CASC3 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
CASC3 O15234 KRTAP6-2 Homo sapiens Q3LI66
Validated Y2H
32296183
种属内
CASC3 O15234 KRTAP6-2 Homo sapiens Q3LI66
Y2H Prey Pooling
32296183
种属内
CASC3 O15234 KRTAP6-2 Homo sapiens Q3LI66
Y2H Array
32296183
种属内
CASC3 O15234 EIF4A3 Homo sapiens P38919
3D-EM
16797590
种属内
CASC3 O15234 EIF4A3 Homo sapiens P38919
Validated Y2H
32296183
种属内
CASC3 O15234 EIF4A3 Homo sapiens P38919
X-Ray Diffraction
16923391
种属内
CASC3 O15234 EIF4A3 Homo sapiens P38919
SAXS
16931718
种属内
CASC3 O15234 EIF4A3 Homo sapiens P38919
X-Ray Diffraction
20479275
种属内
CASC3 O15234 EIF4A3 Homo sapiens P38919
TEM
22522823
种属内
CASC3 O15234 EIF4A3 Homo sapiens P38919
GMS
20479275
种属内
CASC3 O15234 EIF4A3 Homo sapiens P38919
GMS
16797590
种属内
CASC3 O15234 EIF4A3 Homo sapiens P38919
Anti Tag CoIP
19478851
种属内
CASC3 O15234 EIF4A3 Homo sapiens P38919
Density Sedimentation
22522823
种属内
CASC3 O15234 EIF4A3 Homo sapiens P38919
TAP
18066079
种属内
CASC3 O15234 EIF4A3 Homo sapiens P38919
GMS
22522823
种属内
CASC3 O15234 EIF4A3 Homo sapiens P38919
3D-EM
22522823
种属内
CASC3 O15234 EIF4A3 Homo sapiens P38919
TAP
16170325
种属内
CASC3 O15234 EIF4A3 Homo sapiens P38919
X-Ray Diffraction
16931718
种属内
CASC3 O15234 MAGOH Homo sapiens P61326
TAP
18066079
种属内
CASC3 O15234 MAGOH Homo sapiens P61326
TAP
16170325
种属内
CASC3 O15234 MAGOH Homo sapiens P61326
TEM
22522823
种属内
CASC3 O15234 MAGOH Homo sapiens P61326
GMS
20479275
种属内
CASC3 O15234 MAGOH Homo sapiens P61326
Density Sedimentation
22522823
种属内
CASC3 O15234 MAGOH Homo sapiens P61326
GMS
22522823
种属内
CASC3 O15234 MAGOH Homo sapiens P61326
Anti Tag CoIP
19478851
种属内
CASC3 O15234 MAGOH Homo sapiens P61326
GMS
16797590
种属内
CASC3 O15234 MAGOH Homo sapiens P61326
3D-EM
16797590
种属内
CASC3 O15234 MAGOH Homo sapiens P61326
X-Ray Diffraction
16923391
种属内
CASC3 O15234 MAGOH Homo sapiens P61326
3D-EM
22522823
种属内
CASC3 O15234 MAGOH Homo sapiens P61326
X-Ray Diffraction
16931718
种属内
CASC3 O15234 MAGOH Homo sapiens P61326
X-Ray Diffraction
20479275
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
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 3

MLASA3

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 CASC3 VGNC VGNC:99126
Canis familiaris CASC3 VGNC VGNC:54699
Mus musculus CASC3 MGD MGI:2179723
Rattus norvegicus CASC3 RGD RGD:628766
Bos taurus CASC3 VGNC VGNC:54702
Felis catus CASC3 VGNC VGNC:60376