2. Gene
  3. SMG6 - SMG6 nonsense mediated mRNA decay factor Gene

SMG6 - SMG6 nonsense mediated mRNA decay factor Gene

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

中文名称：SMG6 无义介导的 mRNA 衰减因子

种属: Homo sapiens

同用名: EST1A; SMG-6; hEST1A; C17orf31; hSMG5/7a

基因 ID: 23293 | 基因类型: protein coding

关于 SMG6

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:2,059,839-2,303,785 (from NCBI)

This gene has 20 transcripts (splice variants) and 198 orthologues. Ubiquitous expression in ovary (RPKM 7.3), testis (RPKM 5.9) and 25 other tissues.

功能概要

该基因编码负责染色体末端复制和维持的端粒酶核糖核蛋白复合物的一个组分。编码的蛋白质还在无义介导的 mRNA 衰变 (NMD) 通路中发挥作用，提供启动 NMD 所需的过早翻译终止密码子附近的核酸内切酶活性。已经描述了编码不同蛋白质同种型的选择性剪接转录物变体。[RefSeq 提供，2014 年 2 月]

This gene encodes a component of the Telomerase ribonucleoprotein complex responsible for the replication and maintenance of chromosome ends. The encoded protein also plays a role in the nonsense-mediated mRNA decay (NMD) pathway, providing the Endonuclease activity near the premature translation termination codon that is needed to initiate NMD. Alternatively spliced transcript variants encoding distinct protein isoforms have been described. [provided by RefSeq, Feb 2014]

SMG6 基因产物(4)

mRNA Protein Name
NM_001256827.2 NP_001243756.1 telomerase-binding protein EST1A isoform 3
NM_001256828.1 NP_001243757.1 telomerase-binding protein EST1A isoform 3
NM_001282326.2 NP_001269255.1 telomerase-binding protein EST1A isoform 4
NM_017575.5 NP_060045.4 telomerase-binding protein EST1A isoform 1
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 DNA polymerase binding IPI
IPI: 通过物理相互作用推断
17940095 GOA
enables RNA binding IPI
IPI: 通过物理相互作用推断
17940095 GOA
enables RNA endonuclease activity IDA
IDA: 通过直接分析推断
19060897 GOA
enables RNA endonuclease activity IMP
IMP: 通过突变表型推断
18974281 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12699629 GOA
enables ribonucleoprotein complex binding IPI
IPI: 通过物理相互作用推断
12676087 GOA
enables telomerase RNA binding IPI
IPI: 通过物理相互作用推断
15857955 GOA
enables telomeric DNA binding IDA
IDA: 通过直接分析推断
12699629 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of telomere capping IDA
IDA: 通过直接分析推断
12676087 GOA
involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IMP
IMP: 通过突变表型推断
18974281 GOA
involved in regulation of telomere maintenance IMP
IMP: 通过突变表型推断
12699629 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
14636577 GOA
located in cytosol IDA
IDA: 通过直接分析推断
19060897 GOA
part of exon-exon junction complex IDA
IDA: 通过直接分析推断
20930030 GOA
located in nucleolus IDA
IDA: 通过直接分析推断
12676087 GOA
located in nucleus IDA
IDA: 通过直接分析推断
14636577 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

SMG6 蛋白结构

EST1

EST1: Telomerase activating protein Est1 (636 - 744)

EST1_DNA_bind

EST1_DNA_bind: Est1 DNA/RNA binding domain (751 - 1105)

PIN_4

PIN_4: PIN domain (1248 - 1408)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1419 a.a.
蛋白主名 其他名称

telomerase-binding protein EST1A

EST1 telomerase component homolog A

SMG6 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
SMG6 Q86US8 MEOX2 Homo sapiens Q6FHY5
Y2H Array
32296183
种属内
SMG6 Q86US8 MEOX2 Homo sapiens Q6FHY5
Y2H Prey Pooling
32296183
种属内
SMG6 Q86US8 LAMP2 Homo sapiens P13473-2
Validated Y2H
32814053
种属内
SMG6 Q86US8 LAMP2 Homo sapiens P13473-2
Y2H Pooling
32814053
种属内
SMG6 Q86US8 LAMP2 Homo sapiens P13473-2
Y2H Array
32814053
种属内
SMG6 Q86US8 RAN Homo sapiens P62826
Validated Y2H
32814053
种属内
SMG6 Q86US8 RAN Homo sapiens P62826
Y2H Array
32814053
种属内
SMG6 Q86US8 RAN Homo sapiens P62826
Y2H Pooling
32814053
种属内
SMG6 Q86US8 UPF1 Homo sapiens Q92900-2
Anti Tag CoIP
21145460
种属内
SMG6 Q86US8 HIP1 Homo sapiens O00291
Y2H Pooling
32814053
种属内
SMG6 Q86US8 HIP1 Homo sapiens O00291
Validated Y2H
32814053
种属内
SMG6 Q86US8 HIP1 Homo sapiens O00291
Y2H Array
32814053
种属内
SMG6 Q86US8 PRPF40A Homo sapiens O75400-2
Y2H Array
32814053
种属内
SMG6 Q86US8 PRPF40A Homo sapiens O75400-2
Y2H Pooling
32814053
种属内
SMG6 Q86US8 PRPF40A Homo sapiens O75400-2
Validated Y2H
32814053
种属内
SMG6 Q86US8 CASP6 Homo sapiens P55212
Y2H Pooling
32814053
种属内
SMG6 Q86US8 CASP6 Homo sapiens P55212
Validated Y2H
32814053
种属内
SMG6 Q86US8 CASP6 Homo sapiens P55212
Y2H Array
32814053
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
Pancreatic Adenosquamous Carcinoma

Adenosquamous Carcinoma Of Pancreas

Adenosquamous Carcinoma Of The Pancreas
Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria
Metaphyseal Chondrodysplasia, Schmid Type

MCDS

Schmid Metaphyseal Chondrodysplasia

Metaphyseal Chondrodysplasia Schmid Type

Spondylometaphyseal Dysplasia, Japanese Type

Japanese Type Spondylometaphyseal Dysplasia

Schmid Type Metaphyseal Dysplasia

Metaphyseal Chondrodysplasia Type Schmid

Schmid Type Metaphyseal Chondrodysplasia

SMCD

Chondrodysplasia, Metaphyseal, Schmid Type

Corneal Dystrophy, Subepithelial Mucinous
Miller-Dieker Lissencephaly Syndrome

Miller-Dieker Syndrome

Mds

MDLS

Miller Dieker Syndrome

Classical Lissencephaly Syndrome

Lissencephaly Due To 17p13.3 Deletion

Monosomy 17p13.3

Telomeric Deletion 17p

Classical Lissencephaly
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-RS13432 SMG6 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus SMG6 RGD RGD:1595918
Canis familiaris SMG6 VGNC VGNC:46556
Bos taurus SMG6 VGNC VGNC:35011
Felis catus SMG6 VGNC VGNC:65488
Mus musculus SMG6 MGD MGI:2144117
Macaca mulatta SMG6 VGNC VGNC:99262
Others SMG6 NCBI
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