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  2. UPF3A - UPF3A regulator of nonsense mediated mRNA decay Gene

UPF3A - UPF3A regulator of nonsense mediated mRNA decay Gene

中文名称:UPF3A 调节无义介导的 mRNA 衰变

种属: Homo sapiens

同用名: UPF3; HUPF3A; RENT3A

基因 ID: 65110 | 基因类型: protein coding

关于 UPF3A

Cytogenetic location: 13q34 Genomic coordinates (GRCh38): 13:114,281,601-114,305,817 (from NCBI)

This gene has 12 transcripts (splice variants), 195 orthologues and 1 paralogue. Ubiquitous expression in testis (RPKM 21.9), thyroid (RPKM 13.7) and 25 other tissues.

功能概要

该基因编码的蛋白质是参与 mRNA 核输出和 mRNA 监视的剪接后多蛋白复合物的一部分。编码的蛋白质是酵母 Upf3p 的两个功能同系物之一。 mRNA 监测检测具有截短开放阅读框的输出 mRNA,并启动无义介导的 mRNA 衰变 (NMD) 。当翻译在最后一个外显子-外显子连接处的上游结束时,这会触发 NMD 降解含有过早终止密码子的 mRNA。这种蛋白质与 mRNA 结合并在核输出后保持结合,充当核质穿梭蛋白。它与 Y14 形成一个复合体,该复合体特异性结合外显子-外显子连接上游 20 nt。该基因位于 13 号染色体的长臂上。已发现该基因的几种编码不同亚型的剪接变体。[RefSeq 提供,2017 年 7 月]

This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. The encoded protein is one of two functional homologs to yeast Upf3p. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome 13. Several splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

UPF3A 基因产物(11)

mRNA Protein Name
NM_001353644.2 NP_001340573.1 regulator of nonsense transcripts 3A isoform c
NM_001353645.1 NP_001340574.1 regulator of nonsense transcripts 3A isoform c
NM_001353646.1 NP_001340575.1 regulator of nonsense transcripts 3A isoform c
NM_001353647.1 NP_001340576.1 regulator of nonsense transcripts 3A isoform c
NM_001353648.2 NP_001340577.1 regulator of nonsense transcripts 3A isoform c
NM_001353649.1 NP_001340578.1 regulator of nonsense transcripts 3A isoform d
NM_001353650.1 NP_001340579.1 regulator of nonsense transcripts 3A isoform d
NM_001353651.2 NP_001340580.1 regulator of nonsense transcripts 3A isoform e
NM_001353652.2 NP_001340581.1 regulator of nonsense transcripts 3A isoform f
NM_023011.4 NP_075387.1 regulator of nonsense transcripts 3A isoform hUpf3p
NM_080687.3 NP_542418.1 regulator of nonsense transcripts 3A isoform hUpf3pdelta
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 mRNA binding IDA
IDA: 通过直接分析推断
11163187 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11163187 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
NOT involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IDA
IDA: 通过直接分析推断
16601204 GOA
involved in positive regulation of translation IDA
IDA: 通过直接分析推断
16601204 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of exon-exon junction complex IDA
IDA: 通过直接分析推断
16601204 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

UPF3A 蛋白结构

Smg4_UPF3

Smg4_UPF3: Smg-4/UPF3 family (62 - 228)

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

regulator of nonsense transcripts 3A

UPF3 regulator of nonsense transcripts homolog A

UPF3A 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 UPF3A Q9H1J1 UPF3B Homo sapiens Q9BZI7-2
Pull Down
19503078
Intra UPF3A Q9H1J1 UPF2 Homo sapiens Q9HAU5
Pull Down
19503078
Intra UPF3A Q9H1J1 UPF2 Homo sapiens Q9HAU5
Anti Bait CoIP
11163187
Intra UPF3A Q9H1J1 UPF1 Homo sapiens Q92900
Anti Bait CoIP
11163187
Intra UPF3A Q9H1J1 RBM8A Homo sapiens Q9Y5S9
Anti Tag CoIP
11546873
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
Chromosome 1q21.1 Duplication Syndrome

1q21.1 Microduplication Syndrome

Trisomy 1q21.1

1q21.1 Duplication Syndrome

1q21.1 Microduplication

1q21.1 Duplication

Dup(1)(Q21.1)

Non-Syndromic X-Linked Intellectual Disability 82

Mrx82

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

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
Bos taurus UPF3A VGNC VGNC:36682
Canis familiaris UPF3A VGNC VGNC:48152
Mus musculus UPF3A MGD MGI:1914281
Macaca mulatta UPF3A VGNC VGNC:79244
Felis catus UPF3A VGNC VGNC:66840
Rattus norvegicus UPF3A RGD RGD:1308778