UPF3B - UPF3B regulator of nonsense mediated mRNA decay Gene

中文名称：无意义介导的 mRNA 衰变的 UPF3B 调节器

种属: Homo sapiens

同用名: MRX62; MRX82; UPF3X; HUPF3B; MRXS14; RENT3B; UPF3BP1; UPF3BP2; UPF3BP3; Upf3p-X

基因 ID: 65109 | 基因类型: protein coding

关于 UPF3B

Cytogenetic location: Xq24 Genomic coordinates (GRCh38): X:119,805,311-119,852,963 (from NCBI)

This gene has 3 transcripts (splice variants), 213 orthologues, 1 paralogue and is associated with 5 phenotypes. Ubiquitous expression in lymph node (RPKM 5.0), brain (RPKM 4.7) 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 X 染色体的长臂上。已发现该基因的两个编码不同亚型的剪接变体。[RefSeq 提供，2008 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 X. Two splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

UPF3B 基因产物(2)

mRNA	Protein	Name
NM_023010.4	NP_075386.1	regulator of nonsense transcripts 3B isoform 2
NM_080632.3	NP_542199.1	regulator of nonsense transcripts 3B isoform 1

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

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	IDA IDA: 通过直接分析推断	16601204	GOA
involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP IMP: 通过突变表型推断	18369367	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	11546873	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

UPF3B 蛋白结构

Smg4_UPF3

0
100
200
300
400
483 a.a.

蛋白主名

其他名称

regulator of nonsense transcripts 3B

UPF3 regulator of nonsense transcripts homolog B

UPF3B 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	UPF3B	Q9BZI7	MAGOH	Homo sapiens	P61326	Anti Tag CoIP	16601204
Intra	UPF3B	Q9BZI7	UPF2	Homo sapiens	Q9HAU5	Anti Bait CoIP	11163187
Intra	UPF3B	Q9BZI7	UPF2	Homo sapiens	Q9HAU5	Y2H	15231747
Intra	UPF3B	Q9BZI7	UPF2	Homo sapiens	Q9HAU5	Anti Tag CoIP	16601204
Intra	UPF3B	Q9BZI7	UPF2	Homo sapiens	Q9HAU5	Anti Tag CoIP	26496610
Intra	UPF3B	Q9BZI7	UPF1	Homo sapiens	Q92900	Anti Tag CoIP	16601204
Intra	UPF3B	Q9BZI7	UPF1	Homo sapiens	Q92900	Anti Bait CoIP	11163187
Intra	UPF3B	Q9BZI7	RBM8A	Homo sapiens	Q9Y5S9	Anti Tag CoIP	16601204
Intra	UPF3B	Q9BZI7	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

Intellectual Developmental Disorder, X-Linked, Syndromic 14

MRXS14	Intellectual Developmental Disorder, X-Linked Syndromic 14
Mental Retardation, X-Linked, Syndromic 14

Syndromic X-Linked Intellectual Disability 14

Lujan Fryns Syndrome

Fg Syndrome

Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type

Lujan-Fryns Syndrome	X-Linked Intellectual Disability With Marfanoid Habitus
MRXSLF	Mental Retardation, X-Linked, With Marfanoid Habitus, 1

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

Non-Syndromic X-Linked Intellectual Disability 82

Mrx82

Cataract 40

CTRCT40	Cataract 40 With Or Without Microcornea
Cct	Cataract, Congenital, X-Linked
Cataract 40, X-Linked	Cataract, Congenital, With Microcornea Or Slight Microphthalmia
Cxn	Cataract, Congenital Total, With Posterior Sutural Opacities In Heterozygotes
Cataract 40 X-Linked	Cataract Congenital X-Linked
Cataract, Total Congenital	Cataract, Total Congenital With Posterior Sutural Opacities In Heterozygotes
Congenital Total Cataract With Posterior Sutural Opacities In Heterozygotes	X-Linked Congenital Cataract
Cataract, Type 40

Pancreatic Adenosquamous Carcinoma

Adenosquamous Carcinoma Of Pancreas

Adenosquamous Carcinoma Of The Pancreas

Opitz-Kaveggia Syndrome

Fg Syndrome	Fgs1
Fgs	Keller Syndrome
OKS	Fg Syndrome 1
Fg Syndrome Type 1	Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum
Intellectual Disability, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum	Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of The Corpus Callosum

Spermatogenic Failure 24

SPGF24

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS15485	UPF3B Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	UPF3B	VGNC	VGNC:36683
Rattus norvegicus	UPF3B	RGD	RGD:1560264
Mus musculus	UPF3B	MGD	MGI:1915384
Canis familiaris	UPF3B	VGNC	VGNC:48153
Felis catus	UPF3B	VGNC	VGNC:66841

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