RPTOR regulatory associated protein of MTOR complex 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RPTORprovided by HGNC
Official Full Name: regulatory associated protein of MTOR complex 1provided by HGNC
Primary source: HGNC:HGNC:30287
See related: Ensembl:ENSG00000141564 MIM:607130; AllianceGenome:HGNC:30287
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: KOG1; Mip1
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]
Expression: Ubiquitous expression in brain (RPKM 5.6), testis (RPKM 4.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.3

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (80544838..80966368)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (81446296..81873303)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (78518638..78940168)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Role of Raptor Gene Variants in Hypertension: Influence on Blood Pressure Independent of Salt Intake in White Population.
Title: Role of Raptor Gene Variants in Hypertension: Influence on Blood Pressure Independent of Salt Intake in White Population.
MALAT1 DEREPRESSES MIR-433-3P-MEDIATED RPTOR SUPPRESSION TO IMPAIR AUTOPHAGY AND DRIVE PYROPTOSIS IN ENDOTOXEMIA.
Title: MALAT1 DEREPRESSES MIR-433-3P-MEDIATED RPTOR SUPPRESSION TO IMPAIR AUTOPHAGY AND DRIVE PYROPTOSIS IN ENDOTOXEMIA.
Raptor mediates the selective inhibitory effect of cardamonin on RRAGC-mutant B cell lymphoma.
Title: Raptor mediates the selective inhibitory effect of cardamonin on RRAGC-mutant B cell lymphoma.
Association of PI3K/AKT/mTOR pathway autophagy-related gene polymorphisms with pulmonary tuberculosis susceptibility in a Chinese population.
Title: Association of PI3K/AKT/mTOR pathway autophagy-related gene polymorphisms with pulmonary tuberculosis susceptibility in a Chinese population.
RBM3 interacts with Raptor to regulate autophagy and protect cardiomyocytes from ischemia-reperfusion-induced injury.
Title: RBM3 interacts with Raptor to regulate autophagy and protect cardiomyocytes from ischemia-reperfusion-induced injury.
RPTOR methylation in the peripheral blood and breast cancer in the Chinese population.
Title: RPTOR methylation in the peripheral blood and breast cancer in the Chinese population.
The Association between the Plasma Sugar and Lipid Profile with the Gene Expression of the Regulatory Protein of mTOR (Raptor) in Patients with Rheumatoid Arthritis.
Title: The Association between the Plasma Sugar and Lipid Profile with the Gene Expression of the Regulatory Protein of mTOR (Raptor) in Patients with Rheumatoid Arthritis.
Different Role of Raptor and Rictor in Regulating Rasfonin-Induced Autophagy and Apoptosis in Renal Carcinoma Cells.
Title: Different Role of Raptor and Rictor in Regulating Rasfonin-Induced Autophagy and Apoptosis in Renal Carcinoma Cells.
The dynamic mechanism of 4E-BP1 recognition and phosphorylation by mTORC1.
Title: The dynamic mechanism of 4E-BP1 recognition and phosphorylation by mTORC1.
Raptor and rictor expression in patients with human papillomavirus-related oropharyngeal squamous cell carcinoma.
Title: Raptor and rictor expression in patients with human papillomavirus-related oropharyngeal squamous cell carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (79)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-145979 (e-PCR)
- UniSTS:183043

SHGC-154405 (e-PCR)
- UniSTS:183071

SHGC-147765 (e-PCR)
- UniSTS:172871

RH65537 (e-PCR)
- UniSTS:26718

G32509 (e-PCR)
- UniSTS:117094

RAPTOR_2116 (e-PCR)
- UniSTS:280955

A005R46 (e-PCR)
- UniSTS:59524

D17S1457E (e-PCR)
- UniSTS:150497

A009F31 (e-PCR)
- UniSTS:37613

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 14-3-3 protein binding	IDA Inferred from Direct Assay more info	PubMed
enables enzyme-substrate adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine/threonine kinase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein-containing complex binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein-macromolecule adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables small GTPase binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage response	NAS Non-traceable Author Statement more info	PubMed
involved_in TOR signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in TORC1 signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in TORC1 signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in TORC1 signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to L-leucine	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to amino acid stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to amino acid stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to glucose stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to hypoxia	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular response to nutrient levels	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to nutrient levels	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to nutrient levels	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular response to osmotic stress	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular response to starvation	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of autophagy	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of autophagy	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of G1/S transition of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of TOR signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell growth	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell growth	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of endothelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of glycolytic process	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of lipid biosynthetic process	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of odontoblast differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of osteoclast differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of pentose-phosphate shunt	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of peptidyl-serine phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of peptidyl-threonine phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase III	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of autophagy	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cell growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell size	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to xenobiotic stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in social behavior	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of TORC1 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of TORC1 complex	IDA Inferred from Direct Assay more info	PubMed
part_of TORC1 complex	IPI Inferred from Physical Interaction more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic stress granule	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in lysosomal membrane	HDA more info	PubMed
is_active_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	IMP Inferred from Mutant Phenotype more info	PubMed
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info

General protein information

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Preferred Names: regulatory-associated protein of mTOR

Names: p150 target of rapamycin (TOR)-scaffold protein containing WD-repeats; raptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_013034.2 RefSeqGene

Range

5014..426544

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001163034.2 → NP_001156506.1 regulatory-associated protein of mTOR isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks alternate in-frame exons compared to variant 1. This results in a shorter protein (isoform 2) compared to isoform 1. The transcript is described in PMID:19388141.

Source sequence(s)

AC016245, AC109327, AC127496, AC133012

Consensus CDS

CCDS54175.1

UniProtKB/TrEMBL

A0A8V8TMD9

Related

ENSP00000442479.2, ENST00000544334.6

Conserved Domains (3) summary

COG2319
Location:861 → 1174

WD40; WD40 repeat [General function prediction only]

sd00039
Location:869 → 905

7WD40; WD40 repeat [structural motif]

pfam14538
Location:60 → 206

Raptor_N; Raptor N-terminal CASPase like domain
NM_020761.3 → NP_065812.1 regulatory-associated protein of mTOR isoform 1

See identical proteins and their annotated locations for NP_065812.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AB082951, AI821182, AK055912, AY090663, BC033258, BC073898

Consensus CDS

CCDS11773.1

UniProtKB/Swiss-Prot

B2RN36, C6KEF2, F5H7J5, Q8N122, Q8N4V9, Q8TB32, Q9P2P3

UniProtKB/TrEMBL

A0A8V8TMD9

Related

ENSP00000307272.3, ENST00000306801.8

Conserved Domains (5) summary

sd00044
Location:563 → 592

HEAT; HEAT repeat [structural motif]

sd00039
Location:1027 → 1063

7WD40; WD40 repeat [structural motif]

pfam13646
Location:566 → 668

HEAT_2; HEAT repeats

pfam14538
Location:55 → 206

Raptor_N; Raptor N-terminal CASPase like domain

cl29593
Location:1027 → 1322

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...