2. Gene
  3. SMG1 - SMG1 nonsense mediated mRNA decay associated PI3K related kinase Gene

SMG1 - SMG1 nonsense mediated mRNA decay associated PI3K related kinase Gene

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

中文名称：SMG1 无义介导的 mRNA 衰变相关 PI3K 相关激酶

种属: Homo sapiens

同用名: ATX; LIP; 61E3.4

基因 ID: 23049 | 基因类型: protein coding

关于 SMG1

Cytogenetic location: 16p12.3 Genomic coordinates (GRCh38): 16:18,804,860-18,926,408 (from NCBI)

This gene has 16 transcripts (splice variants), 223 orthologues and 5 paralogues. Ubiquitous expression in skin (RPKM 20.7), bone marrow (RPKM 12.3) and 25 other tissues.

功能概要

该基因编码一种参与无义介导的 mRNA 衰变 (NMD) 的蛋白质，作为 mRNA 监视复合体的一部分。该蛋白具有激酶活性，被认为通过磷酸化无义转录物调节蛋白 1 在 NMD 中发挥作用。已经描述了选择性剪接的转录物变体，但它们的全长性质尚未确定。[RefSeq 提供，2013 年 3 月]

This gene encodes a protein involved in nonsense-mediated mRNA decay (NMD) as part of the mRNA surveillance complex. The protein has kinase activity and is thought to function in NMD by phosphorylating the regulator of nonsense transcripts 1 protein. Alternatively spliced transcript variants have been described, but their full-length nature has yet to be determined. [provided by RefSeq, Mar 2013]

SMG1 基因产物(1)

mRNA Protein Name
NM_015092.5 NP_055907.3 serine/threonine-protein kinase SMG1
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 diacylglycerol-dependent serine/threonine kinase activity EXP
EXP: 通过实验结果推断
11544179 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11544179 GOA
enables protein serine/threonine kinase activity IDA
IDA: 通过直接分析推断
11544179 GOA
enables telomeric DNA binding IDA
IDA: 通过直接分析推断
17916692 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA damage response IDA
IDA: 通过直接分析推断
15175154 GOA
involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IDA
IDA: 通过直接分析推断
11544179 GOA
involved in peptidyl-serine phosphorylation IDA
IDA: 通过直接分析推断
11544179 GOA
involved in phosphatidylinositol phosphate biosynthetic process IDA
IDA: 通过直接分析推断
11331269 GOA
involved in protein autophosphorylation IDA
IDA: 通过直接分析推断
11331269 GOA
involved in regulation of telomere maintenance IMP
IMP: 通过突变表型推断
17916692 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 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

SMG1 蛋白结构

PI3_PI4_kinase

PI3_PI4_kinase: Phosphatidylinositol 3- and 4-kinase (2150 - 2426)

FATC

FATC: FATC domain (3631 - 3660)

  • 0
  • 600
  • 1200
  • 1800
  • 2400
  • 3000
  • 3661 a.a.
蛋白主名 其他名称

serine/threonine-protein kinase SMG1

PI-3-kinase-related kinase SMG-1

关联疾病

疾病名称 别名
Breast Juvenile Papillomatosis

Juvenile Papillomatosis Of The Breast
Progressive Myoclonus Epilepsy 7

Epm7

Meak

Myoclonus Epilepsy And Ataxia Due To Potassium Channel Mutation

Pme Type 7

Progressive Myoclonic Epilepsy Due To Kv3.1 Deficiency

Progressive Myoclonus Epilepsy Type 7
Pancreatic Adenosquamous Carcinoma

Adenosquamous Carcinoma Of Pancreas

Adenosquamous Carcinoma Of The Pancreas
Ullrich Congenital Muscular Dystrophy 1

Ullrich Congenital Muscular Dystrophy

Ullrich Disease

Ucmd

Ullrich Scleroatonic Muscular Dystrophy

Scleroatonic Muscular Dystrophy

UCMD1

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22

Lgmdr22

Muscular Dystrophy, Scleroatonic

Late Onset Scleroatonic Familial Myopathy

Congenital Muscular Dystrophy, Ullrich Type
Seckel Syndrome

Microcephalic Primordial Dwarfism

Bird-Headed Dwarfism

Harper'S Syndrome

Virchow-Seckel Dwarfism

Nanocephalic Dwarfism

Sckl

Seckel-Type Dwarfism
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 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-161111 KVS0001 99.14% 否
HY-RS13430 SMG1 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 SMG1 VGNC VGNC:65486
Macaca mulatta SMG1 VGNC VGNC:99591
Rattus norvegicus SMG1 RGD RGD:1563508
Bos taurus SMG1 VGNC VGNC:35010
Mus musculus SMG1 MGD MGI:1919742
Canis familiaris SMG1 VGNC VGNC:46554
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