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

    Gene ID: 253260, updated on 28-Oct-2024

    Summary

    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; AllianceGenome:HGNC:28611
    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
    NEW
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    Genomic context

    See RICTOR in Genome Data Viewer
    Location:
    5p13.1
    Exon count:
    41
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (38937920..39074399, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (39187325..39323906, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (38938022..39074501, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene OSMR divergent transcript Neighboring gene transmembrane protein 126A pseudogene Neighboring gene Sharpr-MPRA regulatory region 7781 Neighboring gene uncharacterized LOC107986414 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:38810677-38811177 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:38830048-38831247 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:38878837-38879338 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:38879339-38879838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:38908235-38908735 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:38907734-38908234 Neighboring gene NANOG hESC enhancer GRCh37_chr5:38916726-38917255 Neighboring gene oncostatin M receptor Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_84767 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_84768 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:39011967-39012173 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:39073334-39073860 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:39074387-39074913 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22495 Neighboring gene androgen induced 1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 14991 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22497 Neighboring gene FYN binding protein 1 Neighboring gene Sharpr-MPRA regulatory region 12253 Neighboring gene golgin A5 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:39220741-39221242 Neighboring gene Sharpr-MPRA regulatory region 14491 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:39242438-39242627 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22498 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:39283272-39283436 Neighboring gene complement C9

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1999, MGC39830, DKFZp686B11164

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein serine/threonine kinase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein serine/threonine kinase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ribosome binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in TORC2 signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in TORC2 signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in actin cytoskeleton organization 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 cytoskeleton organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in embryo development ending in birth or egg hatching ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of apoptotic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in peptidyl-serine phosphorylation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of TOR signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of actin filament polymerization IEA
    Inferred from Electronic Annotation
    more info
     
    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 peptidyl-tyrosine phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of actin cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of establishment of cell polarity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IC
    Inferred by Curator
    more info
    PubMed 
    part_of TORC2 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of TORC2 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of TORC2 complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    rapamycin-insensitive companion of mTOR
    Names
    AVO3 homolog
    TORC2-specific protein AVO3
    pianissimo

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001285439.2NP_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)
      AC008964, AC026713, AC109467
      Consensus CDS
      CCDS68861.1
      UniProtKB/Swiss-Prot
      Q6R327
      Related
      ENSP00000296782.5, ENST00000296782.10
      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_001285440.2NP_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)
      AC008964, AC026713, AC109467
      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_152756.5NP_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)
      AC008964, AC026713, AC109467
      Consensus CDS
      CCDS34148.1
      UniProtKB/Swiss-Prot
      B2RNX0, B7ZMF7, Q68DT5, Q6R327, Q86UB7, Q8N3A0, Q8NCM6
      Related
      ENSP00000349959.3, ENST00000357387.8
      Conserved Domains (5) summary
      pfam14663
      Location:747853
      RasGEF_N_2; Rapamycin-insensitive companion of mTOR RasGEF_N domain
      pfam14664
      Location:58437
      RICTOR_N; Rapamycin-insensitive companion of mTOR, N-term
      pfam14665
      Location:10851188
      RICTOR_phospho; Rapamycin-insensitive companion of mTOR, phosphorylation-site
      pfam14666
      Location:637740
      RICTOR_M; Rapamycin-insensitive companion of mTOR, middle domain
      pfam14668
      Location:922991
      RICTOR_V; Rapamycin-insensitive companion of mTOR, domain 5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      38937920..39074399 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417070.1XP_047273026.1  rapamycin-insensitive companion of mTOR isoform X8

    2. XM_017009312.2XP_016864801.1  rapamycin-insensitive companion of mTOR isoform X3

      UniProtKB/TrEMBL
      D6R9S6
      Related
      ENSP00000423162.2, ENST00000514735.2
    3. XM_047417069.1XP_047273025.1  rapamycin-insensitive companion of mTOR isoform X5

    4. XM_017009311.2XP_016864800.1  rapamycin-insensitive companion of mTOR isoform X1

    5. XM_006714463.4XP_006714526.1  rapamycin-insensitive companion of mTOR isoform X6

      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
    6. XM_011514005.3XP_011512307.1  rapamycin-insensitive companion of mTOR isoform X2

      UniProtKB/TrEMBL
      A0AA34QVX7
      Related
      ENSP00000518562.1, ENST00000711063.1
      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
    7. XM_047417068.1XP_047273024.1  rapamycin-insensitive companion of mTOR isoform X4

    8. XM_011514006.4XP_011512308.1  rapamycin-insensitive companion of mTOR isoform X7

      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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      39187325..39323906 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352286.1XP_054208261.1  rapamycin-insensitive companion of mTOR isoform X8

    2. XM_054352281.1XP_054208256.1  rapamycin-insensitive companion of mTOR isoform X3

      UniProtKB/TrEMBL
      D6R9S6
    3. XM_054352283.1XP_054208258.1  rapamycin-insensitive companion of mTOR isoform X5

    4. XM_054352279.1XP_054208254.1  rapamycin-insensitive companion of mTOR isoform X1

    5. XM_054352284.1XP_054208259.1  rapamycin-insensitive companion of mTOR isoform X6

    6. XM_054352280.1XP_054208255.1  rapamycin-insensitive companion of mTOR isoform X2

      UniProtKB/TrEMBL
      A0AA34QVX7
    7. XM_054352282.1XP_054208257.1  rapamycin-insensitive companion of mTOR isoform X4

    8. XM_054352285.1XP_054208260.1  rapamycin-insensitive companion of mTOR isoform X7