UPF1 - UPF1 RNA helicase and ATPase Gene

中文名称：UPF1 RNA 解旋酶和 ATP 酶

种属: Homo sapiens

同用名: UTF; HUPF1; NORF1; RENT1; smg-2; pNORF1

基因 ID: 5976 | 基因类型: protein coding

关于 UPF1

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:18,831,959-18,868,230 (from NCBI)

This gene has 17 transcripts (splice variants), 252 orthologues, 10 paralogues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 26.0), kidney (RPKM 17.5) 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。 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。这种蛋白质仅位于细胞质中。当翻译结束时，它与作为酵母 Upf2p 功能同系物的蛋白质相互作用，触发 mRNA 脱帽。已注意到该基因使用多个聚腺苷酸化位点。可变剪接导致多个转录本变体。[RefSeq 提供，2014 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. 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 is located only in the cytoplasm. When translation ends, it interacts with the protein that is a functional homolog of yeast Upf2p to trigger mRNA decapping. Use of multiple polyadenylation sites has been noted for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

UPF1 基因产物(2)

mRNA	Protein	Name
NM_001297549.2	NP_001284478.1	regulator of nonsense transcripts 1 isoform 1
NM_002911.4	NP_002902.2	regulator of nonsense transcripts 1 isoform 2

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 ATP hydrolysis activity	IDA IDA: 通过直接分析推断	30218034	GOA
enables RNA binding	IDA IDA: 通过直接分析推断	24726324	GOA
enables RNA helicase activity	IDA IDA: 通过直接分析推断	12554878	GOA
enables chromatin binding	IDA IDA: 通过直接分析推断	16488880	GOA
enables double-stranded DNA helicase activity	IDA IDA: 通过直接分析推断	30218034	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	9620853	GOA
enables protein-containing complex binding	IPI IPI: 通过物理相互作用推断	26841701	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
involved in 3'-UTR-mediated mRNA destabilization	IDA IDA: 通过直接分析推断	24726324	GOA
involved in DNA duplex unwinding	IDA IDA: 通过直接分析推断	30218034	GOA
involved in DNA repair	IDA IDA: 通过直接分析推断	16488880	GOA
involved in DNA replication	IMP IMP: 通过突变表型推断	16488880	GOA
involved in cell cycle phase transition	IMP IMP: 通过突变表型推断	16488880	GOA
involved in histone mRNA catabolic process	IMP IMP: 通过突变表型推断	16086026	GOA
involved in nuclear-transcribed mRNA catabolic process	IMP IMP: 通过突变表型推断	23828042	GOA
involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IDA IDA: 通过直接分析推断	17468741	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 mRNA catabolic process	IDA IDA: 通过直接分析推断	24726324	GOA
involved in positive regulation of mRNA catabolic process	IMP IMP: 通过突变表型推断	25225333	GOA
involved in regulation of telomere maintenance	IMP IMP: 通过突变表型推断	17916692	GOA
involved in regulation of translational termination	IMP IMP: 通过突变表型推断	9620853	GOA
involved in telomere maintenance via semi-conservative replication	IDA IDA: 通过直接分析推断	21829167	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in chromatin	IDA IDA: 通过直接分析推断	16488880	GOA
located in chromosome, telomeric region	IDA IDA: 通过直接分析推断	21829167	GOA
part of exon-exon junction complex	IDA IDA: 通过直接分析推断	16601204	GOA
located in nucleus	IDA IDA: 通过直接分析推断	18362360	GOA
part of supraspliceosomal complex	IDA IDA: 通过直接分析推断	18362360	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

UPF1 蛋白结构

UPF1_Zn_bind

AAA_11

AAA_12

0
200
400
600
800
1000
1118 a.a.

蛋白主名

其他名称

regulator of nonsense transcripts 1

ATP-dependent helicase RENT1

UPF1 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	UPF1	Q92900	FAM120A	Homo sapiens	Q9NZB2	Anti Tag CoIP	35271311
Cross	UPF1	Q92900	SKI7	Saccharomyces cerevisiae	Q08491	Anti Tag CoIP	12881429
Intra	UPF1	Q92900	TERT	Homo sapiens	O14746	Anti Bait CoIP	21829167
Intra	UPF1	Q92900	ADAR	Homo sapiens	P55265	Anti Bait CoIP	18362360
Intra	UPF1	Q92900	ADAR	Homo sapiens	P55265	Crosslink	18362360
Intra	UPF1	Q92900	SLBP	Homo sapiens	Q14493	Anti Tag CoIP	16086026
Intra	UPF1	Q92900	STAU1	Homo sapiens	O95793	Anti Tag CoIP	35271311
Intra	UPF1	Q92900	STAU1	Homo sapiens	O95793	Far-WB	15680326
Intra	UPF1	Q92900	UPF2	Homo sapiens	Q9HAU5	Anti Bait CoIP	19417104
Intra	UPF1	Q92900	UPF2	Homo sapiens	Q9HAU5	Anti Tag CoIP	19478851
Intra	UPF1	Q92900	UPF2	Homo sapiens	Q9HAU5	Anti Tag CoIP	15680326
Intra	UPF1	Q92900	UPF2	Homo sapiens	Q9HAU5	Anti Tag CoIP	35271311
Intra	UPF1	Q92900	UPF2	Homo sapiens	Q9HAU5	Anti Tag CoIP	12417715
Intra	UPF1	Q92900	UPF2	Homo sapiens	Q9HAU5	Anti Tag CoIP	16086026
Intra	UPF1	Q92900	UPF2	Homo sapiens	Q9HAU5	X-Ray Diffraction	19556969
Intra	UPF1	Q92900	UPF2	Homo sapiens	Q9HAU5	NMR	19556969
Intra	UPF1	Q92900	UPF2	Homo sapiens	Q9HAU5	Anti Tag CoIP	18256688
Intra	UPF1	Q92900	UPF2	Homo sapiens	Q9HAU5	Pull Down	19556969
Intra	UPF1	Q92900	UPF3B	Homo sapiens	Q9BZI7	Anti Tag CoIP	12417715
Intra	UPF1	Q92900	UPF3B	Homo sapiens	Q9BZI7	Anti Tag CoIP	15680326
Intra	UPF1	Q92900	UPF3B	Homo sapiens	Q9BZI7	Anti Bait CoIP	19417104
Intra	UPF1	Q92900	UPF3B	Homo sapiens	Q9BZI7	Anti Tag CoIP	19478851
Intra	UPF1	Q92900	UPF3B	Homo sapiens	Q9BZI7	Anti Bait CoIP	11163187
Intra	UPF1	Q92900	UPF3B	Homo sapiens	Q9BZI7	Anti Tag CoIP	35271311
Intra	UPF1	Q92900	DCP1A	Homo sapiens	Q9NPI6	Anti Tag CoIP	12417715
Intra	UPF1	Q92900	DCP1A	Homo sapiens	Q9NPI6	Anti Tag CoIP	19150429
Intra	UPF1	Q92900	DCP1A	Homo sapiens	Q9NPI6	Anti Tag CoIP	16364915
Intra	UPF1	Q92900	GSPT2	Homo sapiens	Q8IYD1	Pull Down	18447585
Intra	UPF1	Q92900	GSPT2	Homo sapiens	Q8IYD1	Anti Tag CoIP	18447585
Intra	UPF1	Q92900	UPF3A	Homo sapiens	Q9H1J1	Anti Tag CoIP	12417715
Intra	UPF1	Q92900	DCP2	Homo sapiens	Q8IU60	Anti Tag CoIP	12417715
Intra	UPF1	Q92900	DCP2	Homo sapiens	Q8IU60	Anti Tag CoIP	16364915
Intra	UPF1	Q92900	ACD	Homo sapiens	Q96AP0	Anti Bait CoIP	21829167
Intra	UPF1	Q92900	ACD	Homo sapiens	Q96AP0	Anti Tag CoIP	21829167
Intra	UPF1	Q92900	SMG7	Homo sapiens	Q92540	Pull Down	23348841
Intra	UPF1	Q92900	SMG7	Homo sapiens	Q92540	Anti Tag CoIP	35271311
Intra	UPF1	Q92900	PNRC2	Homo sapiens	Q9NPJ4	Y2H	19150429
Intra	UPF1	Q92900	PNRC2	Homo sapiens	Q9NPJ4	Anti Tag CoIP	19150429
Intra	UPF1	Q92900	PNRC2	Homo sapiens	Q9NPJ4	Pull Down	19150429
Intra	UPF1	Q92900	GSPT1	Homo sapiens	P15170	Anti Tag CoIP	18256688

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

Choroideremia

CHM	Tcd
Progressive Tapetochoroidal Dystrophy	Choroidal Sclerosis
Tapetochoroidal Dystrophy, Progressive	Progressive Choroidal Atrophy
Tapetochoroidal Dystrophy

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Smard1	DSMA1
Sianrf	Dhmn6
Spinal Muscular Atrophy With Respiratory Distress 1	HMN6
Severe Infantile Axonal Neuropathy With Respiratory Failure	Autosomal Recessive Distal Spinal Muscular Atrophy 1
Diaphragmatic Spinal Muscular Atrophy	Spinal Muscular Atrophy With Respiratory Distress Type 1
Neuronopathy, Distal Hereditary Motor, Type Vi	Hmn Vi
Neuronopathy, Severe Infantile Axonal, With Respiratory Failure	Distal Spinal Muscular Atrophy 1
Autosomal Recessive Spinal Muscular Atrophy With Respiratory Distress	Distal Hereditary Motor Neuropathy Type 6
Distal-Hmn Type 6	Severe Infantile Axonal Neuropathy With Respiratory Failure Type 1
Spinal Muscular Atrophy, Diaphragmatic	Distal Hereditary Motor Neuronopathy Type Vi
Distal Spinal Muscular Atrophy Type 1	Hmnvi
Spinal Muscular Atrophy With Respiratory Distress	Autosomal Recessive Distal Spinal Muscular Atrophy Type 1
Neuronopathy, Distal Hereditary Motor, 6	Dhmn Vi
Distal Hereditary Motor Neuropathy Type Vi	Severe Infantile Axonal Neuronopathy With Respiratory Failure
Spinal Muscular Atrophy Distal Autosomal Recessive 1	Atrophy, Muscular, Spinal, Distal, Type 1

Autosomal Recessive Distal Hereditary Motor Neuronopathy

Autosomal Recessive Distal Spinal Muscular Atrophy

Long Qt Syndrome

Romano-Ward Syndrome	Long Q-T Syndrome
Lqt	Qt Syndrome, Long
Congenital Long Qt Syndrome	Familial Long Qt Syndrome

Junctional Epidermolysis Bullosa Non-Herlitz Type

Junctional Epidermolysis Bullosa, Non-Herlitz Type	Gabeb
Generalized Atrophic Benign Epidermolysis Bullosa	Generalized Junctional Epidermolysis Bullosa, Non-Herlitz Type
Jeb-Nh Gen	Jen-Nh
Junctional Epidermolysis Bullosa Generalisata Mitis	Junctional Epidermolysis Bullosa, Disentis Type
Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Muscular Atrophy

Muscle Wasting	Amyotrophia
Wasting - Muscle	Skeletal Muscle Atrophy

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

Angelman Syndrome

AS	Happy Puppet Syndrome
Happy Puppet Syndrome, Formerly	Puppetlike Syndrome

Waardenburg Syndrome, Type 4a

Waardenburg-Shah Syndrome	Shah-Waardenburg Syndrome
Waardenburg Syndrome Type 4a	WS4A
Ws4	Waardenburg Syndrome Type 4
Waardenburg Syndrome Type Iva	Waardenburg Syndrome With Hirschsprung Disease Type 4a
Hirschsprung Disease With Pigmentary Anomaly	Waardenburg-Hirschsprung Syndrome
Waardenburg Syndrome, Type Iva	Waardenburg Syndrome With Hirschsprung Disease, Type 4a
Waardenburg-Hirschsprung Disease	Waardenburg Syndrome, Type 4
Waardenburg Syndrome 4a

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-111374	NMDI14	Inhibitor	99.76%	否
HY-124719	hSMG-1 inhibitor 11j	Inhibitor	99.82%	否
HY-RS15482	UPF1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	UPF1	VGNC	VGNC:79971
Bos taurus	UPF1	VGNC	VGNC:36680
Canis familiaris	UPF1	VGNC	VGNC:48150
Mus musculus	UPF1	MGD	MGI:107995
Rattus norvegicus	UPF1	RGD	RGD:1589127
Felis catus	UPF1	VGNC	VGNC:69288

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