RPTOR - regulatory associated protein of MTOR complex 1 Gene

Also Known as KOG1; Mip1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57521

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables 14-3-3 protein binding	IDA IDA: Inferred from direct assay	18439900	GOA
enables enzyme-substrate adaptor activity	IDA IDA: Inferred from direct assay	12150926	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12150925	GOA
enables protein kinase activator activity	IDA IDA: Inferred from direct assay	12150926	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	18439900	GOA
enables protein serine/threonine kinase inhibitor activity	IDA IDA: Inferred from direct assay	12718876	GOA
enables protein-containing complex binding	IPI IPI: Inferred from physical interaction	19211835	GOA
enables protein-macromolecule adaptor activity	IDA IDA: Inferred from direct assay	12150926	GOA
enables small GTPase binding	IDA IDA: Inferred from direct assay	26588989	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in TOR signaling	IDA IDA: Inferred from direct assay	20381137	GOA
involved in TORC1 signaling	IDA IDA: Inferred from direct assay	12150926	GOA
involved in TORC1 signaling	IMP IMP: Inferred from mutant phenotype	12718876	GOA
involved in cellular response to L-leucine	IDA IDA: Inferred from direct assay	22424946	GOA
involved in cellular response to amino acid stimulus	IMP IMP: Inferred from mutant phenotype	20381137	GOA
involved in cellular response to glucose stimulus	IDA IDA: Inferred from direct assay	37541260	GOA
involved in cellular response to nutrient levels	IDA IDA: Inferred from direct assay	12150926	GOA
involved in cellular response to nutrient levels	IMP IMP: Inferred from mutant phenotype	12150925	GOA
involved in negative regulation of autophagy	IDA IDA: Inferred from direct assay	32561715	GOA
involved in positive regulation of G1/S transition of mitotic cell cycle	IMP IMP: Inferred from mutant phenotype	18426977	GOA
involved in positive regulation of TOR signaling	IDA IDA: Inferred from direct assay	12150926	GOA
involved in positive regulation of cell growth	IMP IMP: Inferred from mutant phenotype	18426977	GOA
involved in positive regulation of peptidyl-serine phosphorylation	IMP IMP: Inferred from mutant phenotype	18426977	GOA
involved in positive regulation of peptidyl-threonine phosphorylation	IMP IMP: Inferred from mutant phenotype	18426977	GOA
involved in positive regulation of transcription by RNA polymerase III	IMP IMP: Inferred from mutant phenotype	20233713	GOA
involved in regulation of cell growth	IMP IMP: Inferred from mutant phenotype	20381137	GOA
involved in regulation of cell size	IMP IMP: Inferred from mutant phenotype	12150925	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of TORC1 complex	IDA IDA: Inferred from direct assay	12150926	GOA
part of TORC1 complex	IPI IPI: Inferred from physical interaction	26678875	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	20381137	GOA
located in cytoplasmic stress granule	IDA IDA: Inferred from direct assay	25940091	GOA
is active in lysosomal membrane	IDA IDA: Inferred from direct assay	31601764	GOA
located in lysosome	IDA IDA: Inferred from direct assay	20381137	GOA
located in lysosome	IMP IMP: Inferred from mutant phenotype	22424946	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RPTOR Protein Structure

Raptor_N

HEAT

WD40

0
300
600
900
1200
1335 a.a.

Protein Preferred Names	Protein Names
regulatory-associated protein of mTOR	p150 target of rapamycin (TOR)-scaffold protein containing WD-repeats

RPTOR Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Cross: Cross-species interaction Intra: Intraspecies interaction

RPTOR Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81774	Raptor Antibody (YA1519)	WB, IHC-P, ICC/IF, IP, FC	Human, Mouse, Rat
HY-P86302	Raptor Antibody (YA5994)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12274	RPTOR Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20485	Rptor Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26993	Rptor Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	RPTOR	NCBI