RPTOR - regulatory associated protein of MTOR complex 1 Gene

Homo sapiens

Also known as KOG1; Mip1

Gene ID: 57521 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12274	RPTOR Human Pre-designed siRNA Set A		/	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

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