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RICTOR RPTOR independent companion of MTOR complex 2 [ Homo sapiens (human) ]

Gene ID: 253260, updated on 15-Jul-2018
Official Symbol
RICTORprovided by HGNC
Official Full Name
RPTOR independent companion of MTOR complex 2provided by HGNC
Primary source
HGNC:HGNC:28611
See related
Ensembl:ENSG00000164327 MIM:609022; Vega:OTTHUMG00000162037
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PIA; AVO3; hAVO3
Summary
RICTOR and MTOR (FRAP1; MIM 601231) are components of a protein complex that integrates nutrient- and growth factor-derived signals to regulate cell growth (Sarbassov et al., 2004 [PubMed 15268862]).[supplied by OMIM, Mar 2008]
Expression
Ubiquitous expression in bone marrow (RPKM 9.8), testis (RPKM 7.0) and 25 other tissues See more
Orthologs
See RICTOR in Genome Data Viewer
Location:
5p13.1
Exon count:
41
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (38937920..39074421, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (38938022..39074505, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene OSMR antisense RNA 1 (head to head) Neighboring gene uncharacterized LOC105374733 Neighboring gene uncharacterized LOC112267930 Neighboring gene oncostatin M receptor Neighboring gene androgen induced 1 pseudogene 1 Neighboring gene FYN binding protein 1 Neighboring gene golgin A5 pseudogene 1 Neighboring gene complement C9

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
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    mTOR signaling pathway, organism-specific biosystem
    mTOR signaling pathway
  • mTOR signaling pathway, conserved biosystem (from KEGG)
    mTOR signaling pathway, conserved biosystemThe mammalian (mechanistic) target of rapamycin (mTOR) is a highly conserved serine/threonine protein kinase, which exists in two complexes termed mTOR complex 1 (mTORC1) and 2 (mTORC2). mTORC1 conta...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA1999, MGC39830, DKFZp686B11164

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enzyme activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
ribosome binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
TOR signaling IEA
Inferred from Electronic Annotation
more info
 
actin cytoskeleton reorganization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin cytoskeleton reorganization IMP
Inferred from Mutant Phenotype
more info
PubMed 
activation of protein kinase B activity TAS
Traceable Author Statement
more info
 
embryo development ending in birth or egg hatching ISS
Inferred from Sequence or Structural Similarity
more info
 
establishment of cell polarity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
establishment or maintenance of actin cytoskeleton polarity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptidyl-serine phosphorylation IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of TOR signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of actin filament polymerization IEA
Inferred from Electronic Annotation
more info
 
positive regulation of endothelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein kinase B signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of actin cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of establishment of cell polarity IEA
Inferred from Electronic Annotation
more info
 
regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
regulation of inflammatory response IEA
Inferred from Electronic Annotation
more info
 
regulation of peptidyl-serine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
regulation of phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of protein kinase B signaling IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
TORC2 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
TORC2 complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
Preferred Names
rapamycin-insensitive companion of mTOR
Names
AVO3 homolog
TORC2-specific protein AVO3
pianissimo

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.

mRNA and Protein(s)

  1. NM_001285439.1NP_001272368.1  rapamycin-insensitive companion of mTOR isoform 2

    See identical proteins and their annotated locations for NP_001272368.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an additional in-frame coding exon compared to variant 1. The resulting longer isoform (2) has an internal protein segment not found in isoform 1.
    Source sequence(s)
    AB082530, AC026713, AK127305, BC137163, BC144509, BP245264, CN478622
    Consensus CDS
    CCDS68861.1
    UniProtKB/Swiss-Prot
    Q6R327
    Related
    ENSP00000296782.5, OTTHUMP00000221129, ENST00000296782.9, OTTHUMT00000366986
    Conserved Domains (5) summary
    pfam14663
    Location:747853
    RasGEF_N_2; Rapamycin-insensitive companion of mTOR RasGEF_N domain
    pfam14664
    Location:60437
    RICTOR_N; Rapamycin-insensitive companion of mTOR, N-term
    pfam14665
    Location:10841188
    RICTOR_phospho; Rapamycin-insensitive companion of mTOR, phosphorylation-site
    pfam14666
    Location:525740
    RICTOR_M; Rapamycin-insensitive companion of mTOR, middle domain
    pfam14668
    Location:922989
    RICTOR_V; Rapamycin-insensitive companion of mTOR, domain 5
  2. NM_001285440.1NP_001272369.1  rapamycin-insensitive companion of mTOR isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses in-frame acceptor splice sites at 2 internal exons compared to variant 1. The resulting isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AB082530, AC026713, AK127305, BC137163, BP245264, CN478622
    UniProtKB/Swiss-Prot
    Q6R327
    Conserved Domains (5) summary
    pfam14663
    Location:462568
    RasGEF_N_2; Rapamycin-insensitive companion of mTOR RasGEF_N domain
    pfam14664
    Location:3152
    RICTOR_N; Rapamycin-insensitive companion of mTOR, N-term
    pfam14665
    Location:799903
    RICTOR_phospho; Rapamycin-insensitive companion of mTOR, phosphorylation-site
    pfam14666
    Location:240455
    RICTOR_M; Rapamycin-insensitive companion of mTOR, middle domain
    pfam14668
    Location:637704
    RICTOR_V; Rapamycin-insensitive companion of mTOR, domain 5
  3. NM_152756.4NP_689969.2  rapamycin-insensitive companion of mTOR isoform 1

    See identical proteins and their annotated locations for NP_689969.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes isoform 1.
    Source sequence(s)
    AB082530, AC026713, AK127305, BC137163, BP245264, CN478622
    Consensus CDS
    CCDS34148.1
    UniProtKB/Swiss-Prot
    Q6R327
    Related
    ENSP00000349959.3, OTTHUMP00000221128, ENST00000357387.7, OTTHUMT00000366985
    Conserved Domains (5) summary
    pfam14663
    Location:747853
    RasGEF_N_2; Rapamycin-insensitive companion of mTOR RasGEF_N domain
    pfam14664
    Location:60437
    RICTOR_N; Rapamycin-insensitive companion of mTOR, N-term
    pfam14665
    Location:10841188
    RICTOR_phospho; Rapamycin-insensitive companion of mTOR, phosphorylation-site
    pfam14666
    Location:525740
    RICTOR_M; Rapamycin-insensitive companion of mTOR, middle domain
    pfam14668
    Location:922989
    RICTOR_V; Rapamycin-insensitive companion of mTOR, domain 5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    38937920..39074421 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714463.3XP_006714526.1  rapamycin-insensitive companion of mTOR isoform X5

    Conserved Domains (5) summary
    pfam14663
    Location:747853
    RasGEF_N_2; Rapamycin-insensitive companion of mTOR RasGEF_N domain
    pfam14664
    Location:60437
    RICTOR_N; Rapamycin-insensitive companion of mTOR, N-term
    pfam14665
    Location:10841188
    RICTOR_phospho; Rapamycin-insensitive companion of mTOR, phosphorylation-site
    pfam14666
    Location:525740
    RICTOR_M; Rapamycin-insensitive companion of mTOR, middle domain
    pfam14668
    Location:922989
    RICTOR_V; Rapamycin-insensitive companion of mTOR, domain 5
  2. XM_011514005.2XP_011512307.1  rapamycin-insensitive companion of mTOR isoform X2

    Conserved Domains (5) summary
    pfam14663
    Location:747853
    RasGEF_N_2; Rapamycin-insensitive companion of mTOR RasGEF_N domain
    pfam14664
    Location:60437
    RICTOR_N; Rapamycin-insensitive companion of mTOR, N-term
    pfam14665
    Location:10841188
    RICTOR_phospho; Rapamycin-insensitive companion of mTOR, phosphorylation-site
    pfam14666
    Location:525740
    RICTOR_M; Rapamycin-insensitive companion of mTOR, middle domain
    pfam14668
    Location:922989
    RICTOR_V; Rapamycin-insensitive companion of mTOR, domain 5
  3. XM_017009314.2XP_016864803.1  rapamycin-insensitive companion of mTOR isoform X7

    Conserved Domains (5) summary
    pfam14663
    Location:462568
    RasGEF_N_2; Rapamycin-insensitive companion of mTOR RasGEF_N domain
    pfam14664
    Location:3152
    RICTOR_N; Rapamycin-insensitive companion of mTOR, N-term
    pfam14665
    Location:799903
    RICTOR_phospho; Rapamycin-insensitive companion of mTOR, phosphorylation-site
    pfam14666
    Location:240455
    RICTOR_M; Rapamycin-insensitive companion of mTOR, middle domain
    pfam14668
    Location:637704
    RICTOR_V; Rapamycin-insensitive companion of mTOR, domain 5
  4. XM_017009311.1XP_016864800.1  rapamycin-insensitive companion of mTOR isoform X1

  5. XM_017009313.1XP_016864802.1  rapamycin-insensitive companion of mTOR isoform X4

  6. XM_011514006.3XP_011512308.1  rapamycin-insensitive companion of mTOR isoform X6

    Conserved Domains (5) summary
    pfam14663
    Location:684790
    RasGEF_N_2; Rapamycin-insensitive companion of mTOR RasGEF_N domain
    pfam14664
    Location:2374
    RICTOR_N; Rapamycin-insensitive companion of mTOR, N-term
    pfam14665
    Location:10211125
    RICTOR_phospho; Rapamycin-insensitive companion of mTOR, phosphorylation-site
    pfam14666
    Location:462677
    RICTOR_M; Rapamycin-insensitive companion of mTOR, middle domain
    pfam14668
    Location:859926
    RICTOR_V; Rapamycin-insensitive companion of mTOR, domain 5
  7. XM_017009315.2XP_016864804.1  rapamycin-insensitive companion of mTOR isoform X8

  8. XM_017009312.1XP_016864801.1  rapamycin-insensitive companion of mTOR isoform X3

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