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

Gene ID: 57521, updated on 6-Dec-2020

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
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
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Genomic context

See RPTOR in Genome Data Viewer
Location:
17q25.3
Exon count:
34
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (80544838..80966368)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (78518625..78940173)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene neuronal pentraxin 1 Neighboring gene uncharacterized LOC105371922 Neighboring gene ribosomal protein L32 pseudogene 31 Neighboring gene ribosomal protein L31 pseudogene 7 Neighboring gene flocculation protein FLO11-like Neighboring gene uncharacterized LOC101928855 Neighboring gene Sharpr-MPRA regulatory region 3754 Neighboring gene uncharacterized LOC107985022 Neighboring gene uncharacterized LOC400627 Neighboring gene ribosomal protein L12 pseudogene 37 Neighboring gene charged multivesicular body protein 6

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.
GeneReviews: Not available
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1303

Gene Ontology Provided by GOA

Process Evidence Code Pubs
TOR signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
TOR signaling IDA
Inferred from Direct Assay
more info
PubMed 
TORC1 signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
TORC1 signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
activation of protein kinase activity IEA
Inferred from Electronic Annotation
more info
 
cell cycle arrest TAS
Traceable Author Statement
more info
 
cellular response to amino acid stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to amino acid stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to leucine IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to nutrient levels IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to starvation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of G1/S transition of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of TOR signaling IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell growth IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of endothelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of peptidyl-serine phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of peptidyl-threonine phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase III IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of autophagy IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell size IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cellular response to heat TAS
Traceable Author Statement
more info
 
regulation of macroautophagy TAS
Traceable Author Statement
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
TORC1 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
TORC1 complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic stress granule IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
dendrite IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane HDA PubMed 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
lysosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

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

  1. NG_013034.2 RefSeqGene

    Range
    5014..426544
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001163034.2NP_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/Swiss-Prot
    Q8N122
    Related
    ENSP00000442479.2, ENST00000544334.6
    Conserved Domains (3) summary
    COG2319
    Location:8611174
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:869905
    7WD40; WD40 repeat [structural motif]
    pfam14538
    Location:60206
    Raptor_N; Raptor N-terminal CASPase like domain
  2. NM_020761.3NP_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
    Q8N122
    UniProtKB/TrEMBL
    Q6DKI0
    Related
    ENSP00000307272.3, ENST00000306801.8
    Conserved Domains (5) summary
    sd00044
    Location:563592
    HEAT; HEAT repeat [structural motif]
    sd00039
    Location:10271063
    7WD40; WD40 repeat [structural motif]
    pfam14538
    Location:55206
    Raptor_N; Raptor N-terminal CASPase like domain
    pfam13646
    Location:566668
    HEAT_2; HEAT repeats
    cl29593
    Location:10271322
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    80544838..80966368
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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