RPTOR - regulatory associated protein of MTOR complex 1 Gene

中文名称：MTOR 复合物 1 的调节相关蛋白

种属: Homo sapiens

同用名: KOG1; Mip1

基因 ID: 57521 | 基因类型: protein coding

关于 RPTOR

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:80,544,838-80,966,368 (from NCBI)

This gene has 13 transcripts (splice variants) and 209 orthologues. Ubiquitous expression in brain (RPKM 5.6), testis (RPKM 4.5) and 25 other tissues.

功能概要

该基因编码信号通路的一个组成部分，该通路调节细胞生长以响应营养和胰岛素水平。编码的蛋白质与 mTOR 激酶形成化学计量复合物，并且还与真核起始因子 4E 结合蛋白-1 和核糖体蛋白 S6 激酶相关联。该蛋白正向调节下游效应核糖体蛋白 S6 激酶，负向调节 mTOR 激酶。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2009 年 9 月]

This gene encodes a component of a signaling pathway that regulates cell growth in response to nutrient and Insulin levels. The encoded protein forms a stoichiometric complex with the mTOR kinase, and also associates with eukaryotic initiation factor 4E-binding protein-1 and ribosomal protein S6 kinase. The protein positively regulates the downstream effector ribosomal protein S6 kinase, and negatively regulates the mTOR kinase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

RPTOR 基因产物(2)

mRNA	Protein	Name
NM_001163034.2	NP_001156506.1	regulatory-associated protein of mTOR isoform 2
NM_020761.3	NP_065812.1	regulatory-associated protein of mTOR 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 14-3-3 protein binding	IDA IDA: 通过直接分析推断	18439900	GOA
enables enzyme-substrate adaptor activity	IDA IDA: 通过直接分析推断	12150926	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	12150925	GOA
enables protein kinase activator activity	IDA IDA: 通过直接分析推断	12150926	GOA
enables protein kinase binding	IPI IPI: 通过物理相互作用推断	18439900	GOA
enables protein serine/threonine kinase inhibitor activity	IDA IDA: 通过直接分析推断	12718876	GOA
enables protein-containing complex binding	IPI IPI: 通过物理相互作用推断	19211835	GOA
enables protein-macromolecule adaptor activity	IDA IDA: 通过直接分析推断	12150926	GOA
enables small GTPase binding	IDA IDA: 通过直接分析推断	26588989	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in TOR signaling	IDA IDA: 通过直接分析推断	20381137	GOA
involved in TORC1 signaling	IDA IDA: 通过直接分析推断	12150926	GOA
involved in TORC1 signaling	IMP IMP: 通过突变表型推断	12718876	GOA
involved in cellular response to L-leucine	IDA IDA: 通过直接分析推断	22424946	GOA
involved in cellular response to amino acid stimulus	IMP IMP: 通过突变表型推断	20381137	GOA
involved in cellular response to glucose stimulus	IDA IDA: 通过直接分析推断	37541260	GOA
involved in cellular response to nutrient levels	IDA IDA: 通过直接分析推断	12150926	GOA
involved in cellular response to nutrient levels	IMP IMP: 通过突变表型推断	12150925	GOA
involved in negative regulation of autophagy	IDA IDA: 通过直接分析推断	32561715	GOA
involved in positive regulation of G1/S transition of mitotic cell cycle	IMP IMP: 通过突变表型推断	18426977	GOA
involved in positive regulation of TOR signaling	IDA IDA: 通过直接分析推断	12150926	GOA
involved in positive regulation of cell growth	IMP IMP: 通过突变表型推断	18426977	GOA
involved in positive regulation of peptidyl-serine phosphorylation	IMP IMP: 通过突变表型推断	18426977	GOA
involved in positive regulation of peptidyl-threonine phosphorylation	IMP IMP: 通过突变表型推断	18426977	GOA
involved in positive regulation of transcription by RNA polymerase III	IMP IMP: 通过突变表型推断	20233713	GOA
involved in regulation of cell growth	IMP IMP: 通过突变表型推断	20381137	GOA
involved in regulation of cell size	IMP IMP: 通过突变表型推断	12150925	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of TORC1 complex	IDA IDA: 通过直接分析推断	12150926	GOA
part of TORC1 complex	IPI IPI: 通过物理相互作用推断	26678875	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	20381137	GOA
located in cytoplasmic stress granule	IDA IDA: 通过直接分析推断	25940091	GOA
is active in lysosomal membrane	IDA IDA: 通过直接分析推断	31601764	GOA
located in lysosome	IDA IDA: 通过直接分析推断	20381137	GOA
located in lysosome	IMP IMP: 通过突变表型推断	22424946	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

RPTOR 蛋白结构

Raptor_N

HEAT

WD40

0
300
600
900
1200
1335 a.a.

蛋白主名

其他名称

regulatory-associated protein of mTOR

p150 target of rapamycin (TOR)-scaffold protein containing WD-repeats

RPTOR 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	RPTOR	Q8N122	PREX1	Homo sapiens	Q8TCU6	Anti Tag CoIP	17565979
Intra	RPTOR	Q8N122	PREX1	Homo sapiens	Q8TCU6	Anti Tag CoIP	21339740
Intra	RPTOR	Q8N122	G3BP1	Homo sapiens	Q13283	PLA	23953116
Intra	RPTOR	Q8N122	G3BP1	Homo sapiens	Q13283	Anti Bait CoIP	23953116
Intra	RPTOR	Q8N122	MLST8	Homo sapiens	Q9BVC4	Anti Tag CoIP	12408816
Cross	RPTOR	Q8N122	Mtor	Mus musculus	Q9JLN9	Anti Tag CoIP	12150926
Intra	RPTOR	Q8N122	SIRT1	Homo sapiens	Q96EB6	Anti Bait CoIP	21471201
Intra	RPTOR	Q8N122	MAPK8	Homo sapiens	P45983	Anti Bait CoIP	27043084
Intra	RPTOR	Q8N122	LARS1	Homo sapiens	Q9P2J5	IF	22424946
Intra	RPTOR	Q8N122	LARS1	Homo sapiens	Q9P2J5	Anti Bait CoIP	22424946
Intra	RPTOR	Q8N122	MTOR	Homo sapiens	P42345	Anti Tag CoIP	17565979
Intra	RPTOR	Q8N122	MTOR	Homo sapiens	P42345	Anti Tag CoIP	12408816
Intra	RPTOR	Q8N122	MTOR	Homo sapiens	P42345	Anti Bait CoIP	12150926
Intra	RPTOR	Q8N122	MTOR	Homo sapiens	P42345	Anti Bait CoIP	19446321
Intra	RPTOR	Q8N122	SPAG5	Homo sapiens	Q96R06	Anti Bait CoIP	23953116
Intra	RPTOR	Q8N122	EIF4EBP1	Homo sapiens	Q13541	Anti Tag CoIP	12150926
Intra	RPTOR	Q8N122	EIF4EBP1	Homo sapiens	Q13541	Far-WB	18337751
Intra	RPTOR	Q8N122	EIF4EBP1	Homo sapiens	Q13541	Pull Down	12150926
Cross	RPTOR	Q8N122	Rps6kb1	Rattus norvegicus	P67999	Anti Tag CoIP	12150926

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

Tuberous Sclerosis

Tuberous Sclerosis Syndrome	Bourneville'S Disease
Epiloia	Cerebral Sclerosis
Tuberose Sclerosis	Tuberous Sclerosis 1
Bourneville Disease	Bourneville Phakomatosis
Pringle'S Disease

Subependymal Glioma

Mixed Subependymoma-Ependymoma	Subependymal Astrocytoma
Who Grade I Ependymal Tumor	Glioma, Subependymal

Neurodegeneration With Brain Iron Accumulation

Nbia	Neurodegeneration With Brain Iron Accumulation Disorders
Neurodegeneration, With Brain Iron Accumulation

Benign Ependymoma

Ependymoma	Epithelial Ependymoma
Who Grade Ii Ependymal Tumor	Myxopapillary Ependymoma

Kidney Angiomyolipoma

Angiomyolipoma Of Kidney

Renal Angiomyolipoma

Subependymal Giant Cell Astrocytoma

Sega	Astrocytoma Subependymal Giant Cell
Subependymal Giant-Cell Astrocytoma

Fragile X Syndrome

FXS	Martin-Bell Syndrome
Fraxa Syndrome	Marker X Syndrome
X-Linked Mental Retardation And Macroorchidism	Fragile X Mental Retardation Syndrome
Fra Syndrome	Mental Retardation, X-Linked, Associated With Marxq28
X-Linked Intellectual Disability And Macroorchidism	Frax Syndrome
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Fragile-X Syndrome
Fraxe Syndrome

Cowden Syndrome 1

Bannayan-Riley-Ruvalcaba Syndrome	Pten Hamartoma Tumor Syndrome
Lhermitte-Duclos Disease	Bannayan-Zonana Syndrome
Phts	Riley-Smith Syndrome
Bzs	Ruvalcaba-Myhre-Smith Syndrome
Multiple Hamartoma Syndrome	Rmss
Brrs	Dysplastic Gangliocytoma Of The Cerebellum
CWS1	Cs
Cd	Mham
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor	Macrocephaly Multiple Lipomas And Hemangiomata
Bannayan-Ruvalcaba-Riley Syndrome	Myhre-Riley-Smith Syndrome
LDD	Cerebelloparenchymal Disorder Vi
Hamartoma Syndrome, Multiple	Bbrs
Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata	Macrocephaly, Multiple Lipomas, And Hemangiomata
Macrocephaly Pseudopapilledema And Multiple Hemangiomas	Ruvalcaba -Myhre-Smith Syndrome
Ruvalcaba-Myhre Syndrome	Cowden Disease
Macrocephaly Pseudopapilledema And Multiple Hemangiomata	Cerebellar Granule Cell Hypertrophy And Megalencephaly
Cpd6	Pten Hamartoma Tumor Syndromes
Cowden Syndrome, Type 1

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Bardet-Biedl Syndrome

Bbs	Biedl-Bardet Syndrome

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Cowden Syndrome

Cowden Disease	Multiple Hamartoma Syndrome
Cowden'S Disease	Lhermitte-Duclos Disease
Cd	Cs
Mham	Dysplastic Gangliocytoma Of Cerebellum
Cowden'S Syndrome	Hamartoma Syndrome, Multiple

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-RS12274	RPTOR Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	RPTOR	VGNC	VGNC:45750
Rattus norvegicus	RPTOR	RGD	RGD:1311784
Macaca mulatta	RPTOR	VGNC	VGNC:99224
Mus musculus	RPTOR	MGD	MGI:1921620
Bos taurus	RPTOR	VGNC	VGNC:34153
Felis catus	RPTOR	VGNC	VGNC:64763

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