1. Gene
  2. SMG9 - SMG9 nonsense mediated mRNA decay factor Gene

SMG9 - SMG9 nonsense mediated mRNA decay factor Gene

中文名称:SMG9 无义介导的 mRNA 衰减因子

种属: Homo sapiens

同用名: HBMS; NEDITPO; C19orf61; F17127_1

基因 ID: 56006 | 基因类型: protein coding

关于 SMG9

Cytogenetic location: 19q13.31 Genomic coordinates (GRCh38): 19:43,727,983-43,754,962 (from NCBI)

This gene has 13 transcripts (splice variants), 187 orthologues and is associated with 2 phenotypes. Broad expression in testis (RPKM 13.7), lymph node (RPKM 6.7) and 24 other tissues.

功能概要

该基因编码 SMG1 复合物的一个调节亚基,它在无义介导的 mRNA 衰变 (NMD) 中起着关键作用。编码蛋白与 SMG1 复合激酶支架蛋白的结合导致其激酶活性受到抑制。该基因的突变会导致人类患者出现多种先天性异常综合征,其特征是大脑畸形、先天性心脏病和其他特征。[RefSeq 提供,2016 年 7 月]

This gene encodes a regulatory subunit of the SMG1 complex, which plays a critical role in nonsense-mediated mRNA decay (NMD). Binding of the encoded protein to the SMG1 complex kinase scaffold protein results in the inhibition of its kinase activity. Mutations in this gene cause a multiple congenital anomaly syndrome in human patients, characterized by brain malformation, congenital heart disease and other features. [provided by RefSeq, Jul 2016]

SMG9 基因产物(1)

mRNA Protein Name
NM_019108.4 NP_061981.2 nonsense-mediated mRNA decay factor SMG9
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables identical protein binding IPI
IPI: 通过物理相互作用推断
20817927 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19417104 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of apoptotic process EXP
EXP: 通过实验结果推断
20817927 GOA
involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IMP
IMP: 通过突变表型推断
19417104 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

SMG9 蛋白结构

Smg8_Smg9

Smg8_Smg9: Smg8_Smg9 (202 - 341)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 520 a.a.
蛋白主名 其他名称

nonsense-mediated mRNA decay factor SMG9

protein smg-9 homolog

SMG9 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 SMG9 Q9H0W8 KRTAP10-8 Homo sapiens P60410
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 KRTAP10-8 Homo sapiens P60410
Y2H Array
32296183
Intra SMG9 Q9H0W8 NFKBID Homo sapiens Q8NI38
Y2H Array
32296183
Intra SMG9 Q9H0W8 NFKBID Homo sapiens Q8NI38
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 KRT34 Homo sapiens O76011
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 KRT34 Homo sapiens O76011
Y2H Array
32296183
Intra SMG9 Q9H0W8 REL Homo sapiens Q04864-2
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 REL Homo sapiens Q04864-2
Y2H Array
32296183
Intra SMG9 Q9H0W8 CCDC57 Homo sapiens Q2TAC2-2
Y2H Array
32296183
Intra SMG9 Q9H0W8 CCDC57 Homo sapiens Q2TAC2-2
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 PNMA3 Homo sapiens Q9UL41
Y2H Array
32296183
Intra SMG9 Q9H0W8 PNMA3 Homo sapiens Q9UL41
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 PNMA3 Homo sapiens Q9UL41
Validated Y2H
32296183
Intra SMG9 Q9H0W8 MTUS2 Homo sapiens Q5JR59-3
Y2H Array
32296183
Intra SMG9 Q9H0W8 MTUS2 Homo sapiens Q5JR59-3
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 AGTRAP Homo sapiens Q6RW13-2
Y2H Array
32296183
Intra SMG9 Q9H0W8 AGTRAP Homo sapiens Q6RW13-2
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 CTAG1A Homo sapiens P78358
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 CTAG1A Homo sapiens P78358
Y2H Array
32296183
Intra SMG9 Q9H0W8 ZMYND12 Homo sapiens Q9H0C1
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 ZMYND12 Homo sapiens Q9H0C1
Y2H Array
32296183
Intra SMG9 Q9H0W8 TSC1 Homo sapiens Q86WV8
Y2H Array
32296183
Intra SMG9 Q9H0W8 TSC1 Homo sapiens Q86WV8
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 DGAT2L6 Homo sapiens Q6ZPD8
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 DGAT2L6 Homo sapiens Q6ZPD8
Y2H Array
32296183
Intra SMG9 Q9H0W8 GSG1 Homo sapiens Q2KHT4-3
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 GSG1 Homo sapiens Q2KHT4-3
Y2H Array
32296183
Intra SMG9 Q9H0W8 TCF4 Homo sapiens P15884-3
Y2H Array
32296183
Intra SMG9 Q9H0W8 TCF4 Homo sapiens P15884-3
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 CMTM4 Homo sapiens Q8IZR5-2
Y2H Array
32296183
Intra SMG9 Q9H0W8 CMTM4 Homo sapiens Q8IZR5-2
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 PPP2R3C Homo sapiens Q969Q6
Y2H Array
32296183
Intra SMG9 Q9H0W8 PPP2R3C Homo sapiens Q969Q6
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 PRKAR1B Homo sapiens P31321
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 PRKAR1B Homo sapiens P31321
Y2H Array
32296183
Intra SMG9 Q9H0W8 TRAF2 Homo sapiens Q12933
Y2H Array
32296183
Intra SMG9 Q9H0W8 SMG1 Homo sapiens Q96Q15
Anti Bait CoIP
19417104
Intra SMG9 Q9H0W8 SMG1 Homo sapiens Q96Q15
Anti Tag CoIP
26496610
Intra SMG9 Q9H0W8 TRIM23 Homo sapiens P36406
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 TRAF2 Homo sapiens Q12933
Y2H Prey Pooling
25416956
Intra SMG9 Q9H0W8 KRT31 Homo sapiens Q15323
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 TRIM23 Homo sapiens P36406
Y2H Array
25416956
Intra SMG9 Q9H0W8 TRAF2 Homo sapiens Q12933
Validated Y2H
25416956
Intra SMG9 Q9H0W8 TRAF2 Homo sapiens Q12933
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 TRIM23 Homo sapiens P36406
Y2H Array
32296183
Intra SMG9 Q9H0W8 KRT31 Homo sapiens Q15323
Y2H Array
25416956
Intra SMG9 Q9H0W8 TRAF2 Homo sapiens Q12933
Y2H Array
25416956
Intra SMG9 Q9H0W8 SMG1 Homo sapiens Q96Q15
Pull Down
20817927
Intra SMG9 Q9H0W8 PFDN5 Homo sapiens Q99471
Y2H Array
32296183
Intra SMG9 Q9H0W8 PFDN5 Homo sapiens Q99471
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 SMG8 Homo sapiens Q8ND04
Anti Bait CoIP
19417104
Intra SMG9 Q9H0W8 SMG8 Homo sapiens Q8ND04
Pull Down
20817927
Intra SMG9 Q9H0W8 SMG8 Homo sapiens Q8ND04
Anti Tag CoIP
26496610
Intra SMG9 Q9H0W8 SLC17A9 Homo sapiens Q9BYT1
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 SLC17A9 Homo sapiens Q9BYT1
Y2H Array
32296183
Intra SMG9 Q9H0W8 PHF1 Homo sapiens O43189
Y2H Array
32296183
Intra SMG9 Q9H0W8 PHF1 Homo sapiens O43189
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 FNTB Homo sapiens P49356
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 FNTB Homo sapiens P49356
Y2H Array
32296183
Intra SMG9 Q9H0W8 GOLGA2 Homo sapiens Q08379
Y2H Array
32296183
Intra SMG9 Q9H0W8 GOLGA2 Homo sapiens Q08379
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 ZNF655 Homo sapiens Q8N720
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 ZNF655 Homo sapiens Q8N720
Y2H Array
32296183
Intra SMG9 Q9H0W8 ARFIP2 Homo sapiens P53365
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 ARFIP2 Homo sapiens P53365
Y2H Array
32296183
Intra SMG9 Q9H0W8 INCA1 Homo sapiens Q0VD86
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 INCA1 Homo sapiens Q0VD86
Y2H Array
32296183
Intra SMG9 Q9H0W8 RASSF10 Homo sapiens A6NK89
Y2H Array
32296183
Intra SMG9 Q9H0W8 RASSF10 Homo sapiens A6NK89
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 HSF2BP Homo sapiens O75031
Y2H Array
32296183
Intra SMG9 Q9H0W8 HSF2BP Homo sapiens O75031
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 TRIM27 Homo sapiens P14373
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 TRIM27 Homo sapiens P14373
Y2H Array
32296183
Intra SMG9 Q9H0W8 TRIP6 Homo sapiens Q15654
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 TRIP6 Homo sapiens Q15654
Y2H Array
32296183
Intra SMG9 Q9H0W8 CEP76 Homo sapiens Q8TAP6
Y2H Array
32296183
Intra SMG9 Q9H0W8 CEP76 Homo sapiens Q8TAP6
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 AK8 Homo sapiens Q96MA6
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 AK8 Homo sapiens Q96MA6
Y2H Array
32296183
Intra SMG9 Q9H0W8 SLC50A1 Homo sapiens Q9BRV3
Y2H Array
32296183
Intra SMG9 Q9H0W8 SLC50A1 Homo sapiens Q9BRV3
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 SYP Homo sapiens P08247
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 SYP Homo sapiens P08247
Y2H Array
32296183
Intra SMG9 Q9H0W8 TTC19 Homo sapiens Q6DKK2
Y2H Array
32296183
Intra SMG9 Q9H0W8 TTC19 Homo sapiens Q6DKK2
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 PLEKHG4 Homo sapiens Q58EX7
Y2H Prey Pooling
32296183
Intra SMG9 Q9H0W8 PLEKHG4 Homo sapiens Q58EX7
Y2H Array
32296183
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
Heart And Brain Malformation Syndrome

HBMS

Neurodevelopmental Disorder With Heart And Brain Malformations

Nedhbm

Malformation, Heart And Brain, Syndrome

Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies

NEDITPO

Pancreatic Adenosquamous Carcinoma

Adenosquamous Carcinoma Of Pancreas

Adenosquamous Carcinoma Of The Pancreas

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

Microphthalmia

Microphthalmos

Isolated Anophthalmia-Microphthalmia Syndrome

Isolated Microphthalmia-Anophthalmia-Coloboma

Simple Microphthalmos

Clinical Anophthalmia

Isolated Anophthalmia - Microphthalmia

Isolated Pure Microphthalmia

Mac Spectrum

Microphthalmia-Anophthalmia-Coloboma Spectrum

Primitive Anophthalmia

Globe Of Eye Small

Small Eyeball

Hypoplasia Of Eye

Isolated Nanophthalmos

Rudimentary Eye

Dysplasia Of Eye

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
Canis familiaris SMG9 VGNC VGNC:46558
Mus musculus SMG9 MGD MGI:1919247
Bos taurus SMG9 VGNC VGNC:35013
Rattus norvegicus SMG9 RGD RGD:1309888
Felis catus SMG9 VGNC VGNC:65490
Macaca mulatta SMG9 VGNC VGNC:77775