1. Gene
  2. SMG7 - SMG7 nonsense mediated mRNA decay factor Gene

SMG7 - SMG7 nonsense mediated mRNA decay factor Gene

中文名称:SMG7 无义介导的 mRNA 衰减因子

种属: Homo sapiens

同用名: EST1C; SGA56M; C1orf16

基因 ID: 9887 | 基因类型: protein coding

关于 SMG7

Cytogenetic location: 1q25.3 Genomic coordinates (GRCh38): 1:183,472,499-183,554,191 (from NCBI)

This gene has 16 transcripts (splice variants), 203 orthologues and 1 paralogue. Ubiquitous expression in testis (RPKM 30.4), bone marrow (RPKM 12.9) and 25 other tissues.

功能概要

该基因编码的蛋白质对于无义介导的 mRNA 衰变 (NMD) 至关重要;具有过早终止密码子的转录物被 mRNA 衰变复合物快速降解的过程。 mRNA 衰变复合物部分由这种蛋白质以及蛋白质 SMG5 和 UPF1 组成。该蛋白质的 N 末端结构域被认为介导其与 SMG5 或 UPF1 的结合,而 C 末端结构域与 mRNA 衰变复合物相互作用。因此,这种蛋白质可能将 UPF1 磷酸化状态的变化与 NMD 候选转录物的降解结合起来。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2011 年 8 月]

This gene encodes a protein that is essential for nonsense-mediated mRNA decay (NMD); a process whereby transcripts with premature termination codons are targeted for rapid degradation by a mRNA decay complex. The mRNA decay complex consists, in part, of this protein along with proteins SMG5 and UPF1. The N-terminal domain of this protein is thought to mediate its association with SMG5 or UPF1 while the C-terminal domain interacts with the mRNA decay complex. This protein may therefore couple changes in UPF1 phosphorylation state to the degradation of NMD-candidate transcripts. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2011]

SMG7 基因产物(25)

mRNA Protein Name
NM_001174061.2 NP_001167532.1 nonsense-mediated mRNA decay factor SMG7 isoform 5
NM_001331007.2 NP_001317936.1 nonsense-mediated mRNA decay factor SMG7 isoform 6
NM_001350219.2 NP_001337148.1 nonsense-mediated mRNA decay factor SMG7 isoform 7
NM_001350220.2 NP_001337149.1 nonsense-mediated mRNA decay factor SMG7 isoform 8
NM_001350221.2 NP_001337150.1 nonsense-mediated mRNA decay factor SMG7 isoform 6
NM_001375584.1 NP_001362513.1 nonsense-mediated mRNA decay factor SMG7 isoform 10
NM_001375585.1 NP_001362514.1 nonsense-mediated mRNA decay factor SMG7 isoform 11
NM_001394133.1 NP_001381062.1 nonsense-mediated mRNA decay factor SMG7 isoform 8
NM_001394134.1 NP_001381063.1 nonsense-mediated mRNA decay factor SMG7 isoform 12
NM_001394135.1 NP_001381064.1 nonsense-mediated mRNA decay factor SMG7 isoform 12
NM_001394136.1 NP_001381065.1 nonsense-mediated mRNA decay factor SMG7 isoform 12
NM_001394137.1 NP_001381066.1 nonsense-mediated mRNA decay factor SMG7 isoform 5
NM_001394138.1 NP_001381067.1 nonsense-mediated mRNA decay factor SMG7 isoform 7
NM_001394139.1 NP_001381068.1 nonsense-mediated mRNA decay factor SMG7 isoform 7
NM_001394140.1 NP_001381069.1 nonsense-mediated mRNA decay factor SMG7 isoform 13
NM_001394141.1 NP_001381070.1 nonsense-mediated mRNA decay factor SMG7 isoform 14
NM_001394142.1 NP_001381071.1 nonsense-mediated mRNA decay factor SMG7 isoform 15
NM_001394143.1 NP_001381072.1 nonsense-mediated mRNA decay factor SMG7 isoform 15
NM_001394144.1 NP_001381073.1 nonsense-mediated mRNA decay factor SMG7 isoform 16
NM_001394145.1 NP_001381074.1 nonsense-mediated mRNA decay factor SMG7 isoform 17
NM_001394146.1 NP_001381075.1 nonsense-mediated mRNA decay factor SMG7 isoform 17
NM_001394147.1 NP_001381076.1 nonsense-mediated mRNA decay factor SMG7 isoform 18
NM_173156.3 NP_775179.1 nonsense-mediated mRNA decay factor SMG7 isoform 1
NM_201568.3 NP_963862.1 nonsense-mediated mRNA decay factor SMG7 isoform 2
NM_201569.3 NP_963863.2 nonsense-mediated mRNA decay factor SMG7 isoform 4
基因本体论
  • 分子功能
  • 细胞组分
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
14636577 GOA
enables protein phosphatase 2A binding IDA
IDA: 通过直接分析推断
14636577 GOA
enables telomeric DNA binding IDA
IDA: 通过直接分析推断
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

SMG7 蛋白结构

EST1

EST1: Telomerase activating protein Est1 (54 - 170)

EST1_DNA_bind

EST1_DNA_bind: Est1 DNA/RNA binding domain (171 - 430)

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  • 1137 a.a.
蛋白主名 其他名称

nonsense-mediated mRNA decay factor SMG7

EST1 telomerase component homolog C

SMG7 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 SMG7 Q92540 SMG5 Homo sapiens Q9UPR3
Pull Down
23348841
Intra SMG7 Q92540 UPF1 Homo sapiens Q92900
Pull Down
23348841
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

Murray Valley Encephalitis

Australian Encephalitis

Australian X Disease

Encephalitis Australia

Murray River Encephalitis

Australian Arboencephalitis

Australian X Disorder

Mve - [Murray Valley Encephalitis]

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

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 SMG7 VGNC VGNC:46557
Felis catus SMG7 VGNC VGNC:65489
Macaca mulatta SMG7 VGNC VGNC:77725
Rattus norvegicus SMG7 RGD RGD:1310761
Mus musculus SMG7 MGD MGI:2682334
Bos taurus SMG7 VGNC VGNC:35012