1. Gene
  2. SMG8 - SMG8 nonsense mediated mRNA decay factor Gene

SMG8 - SMG8 nonsense mediated mRNA decay factor Gene

中文名称:SMG8 无义介导的 mRNA 衰减因子

种属: Homo sapiens

同用名: ALKUS; C17orf71

基因 ID: 55181 | 基因类型: protein coding

关于 SMG8

Cytogenetic location: 17q22 Genomic coordinates (GRCh38): 17:59,210,035-59,215,230 (from NCBI)

This gene has 6 transcripts (splice variants), 211 orthologues and is associated with 2 phenotypes. Ubiquitous expression in ovary (RPKM 5.9), testis (RPKM 5.7) and 25 other tissues.

功能概要

参与核转录的 mRNA 分解代谢过程、无义介导的衰变和蛋白激酶活性的调节。预测位于胞质溶胶中。 [由基因组资源联盟提供,2022 年 4 月]

Involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay and regulation of protein kinase activity. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]

SMG8 基因产物(1)

mRNA Protein Name
NM_018149.7 NP_060619.4 nonsense-mediated mRNA decay factor SMG8
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 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 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IMP
IMP: 通过突变表型推断
19417104 GOA
involved in regulation of protein kinase activity 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

SMG8 蛋白结构

Smg8_Smg9

Smg8_Smg9: Smg8_Smg9 (42 - 84)

Smg8_Smg9

Smg8_Smg9: Smg8_Smg9 (133 - 991)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 991 a.a.
蛋白主名 其他名称

nonsense-mediated mRNA decay factor SMG8

amplified in breast cancer gene 2 protein

SMG8 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
SMG8 Q8ND04 SMG9 Homo sapiens Q9H0W8
GMS
20817927
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
Alzahrani-Kuwahara Syndrome

ALKUS

Neurodevelopmental Disorder With Dysmorphic Facies And Cataracts

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

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

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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 SMG8 VGNC VGNC:97222
Bos taurus SMG8 VGNC VGNC:55871
Felis catus SMG8 VGNC VGNC:97635
Macaca mulatta SMG8 VGNC VGNC:104655
Mus musculus SMG8 MGD MGI:1921383
Rattus norvegicus SMG8 RGD RGD:1306862