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    RPS6KB1 ribosomal protein S6 kinase B1 [ Homo sapiens (human) ]

    Gene ID: 6198, updated on 21-May-2017
    Official Symbol
    RPS6KB1provided by HGNC
    Official Full Name
    ribosomal protein S6 kinase B1provided by HGNC
    Primary source
    HGNC:HGNC:10436
    See related
    Ensembl:ENSG00000108443 MIM:608938; Vega:OTTHUMG00000150642
    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
    S6K; PS6K; S6K1; STK14A; p70-S6K; p70 S6KA; p70-alpha; S6K-beta-1; p70(S6K)-alpha
    Summary
    This gene encodes a member of the ribosomal S6 kinase family of serine/threonine kinases. The encoded protein responds to mTOR (mammalian target of rapamycin) signaling to promote protein synthesis, cell growth, and cell proliferation. Activity of this gene has been associated with human cancer. Alternatively spliced transcript variants have been observed. The use of alternative translation start sites results in isoforms with longer or shorter N-termini which may differ in their subcellular localizations. There are two pseudogenes for this gene on chromosome 17. [provided by RefSeq, Jan 2013]
    Orthologs
    Location:
    17q23.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (59893046..59950426)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (57970407..58027787)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 450, pseudogene Neighboring gene tubulin delta 1 Neighboring gene NADH:ubiquinone oxidoreductase subunit B8 pseudogene 2 Neighboring gene ribosomal protein S29 pseudogene 21 Neighboring gene TBC1D3P1-DHX40P1 readthrough, transcribed pseudogene Neighboring gene uncharacterized LOC101927755 Neighboring gene ring finger protein, transmembrane 1 Neighboring gene DEAH-box helicase 40 pseudogene 1

    • 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
    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
    NHGRI GWA Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env Secretion of IL-10 is upregulated by HIV-1 gp41 in monocytes through activation of cAMP/adenylate cyclase and p70 (S6)-kinase; up-regulation of IL-10 is paralleled by an enhanced expression of the chemokine receptor CCR5 PubMed
    Tat tat HIV-1 Tat-peptide(48-60) inhibits AGC-family kinases (PKB, SGK1, S6K1, MSK1), CAMK-family kinases (CAMK1 and MELK) and a STE family kinase (MKK1) PubMed

    Go to the HIV-1, Human Interaction Database

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    • AMPK signaling pathway, conserved biosystem (from KEGG)
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    • IGF1 pathway, organism-specific biosystem (from Pathway Interaction Database)
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    • IL4-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      IL4-mediated signaling events, organism-specific biosystem
      IL4-mediated signaling events
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    • IRS-related events triggered by IGF1R, organism-specific biosystem (from REACTOME)
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      Insulin Pathway, organism-specific biosystem
      Insulin Pathway
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    • Integrins in angiogenesis, organism-specific biosystem (from Pathway Interaction Database)
      Integrins in angiogenesis, organism-specific biosystem
      Integrins in angiogenesis
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    • Longevity regulating pathway - multiple species, organism-specific biosystem (from KEGG)
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    • Longevity regulating pathway - multiple species, conserved biosystem (from KEGG)
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    • PI3K Cascade, organism-specific biosystem (from REACTOME)
      PI3K Cascade, organism-specific biosystem
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    • Proteoglycans in cancer, conserved biosystem (from KEGG)
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      Regulation of Telomerase, organism-specific biosystem
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    • Signaling by Insulin receptor, organism-specific biosystem (from REACTOME)
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    • Signaling events mediated by Stem cell factor receptor (c-Kit), organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by Stem cell factor receptor (c-Kit), organism-specific biosystem
      Signaling events mediated by Stem cell factor receptor (c-Kit)
    • TGF-beta receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
      TGF-beta receptor signaling, organism-specific biosystem
      TGF-beta receptor signaling
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    • TGF-beta signaling pathway, conserved biosystem (from KEGG)
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    • Target Of Rapamycin (TOR) Signaling, organism-specific biosystem (from WikiPathways)
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    • a6b1 and a6b4 Integrin signaling, organism-specific biosystem (from Pathway Interaction Database)
      a6b1 and a6b4 Integrin signaling, organism-specific biosystem
      a6b1 and a6b4 Integrin signaling
    • mTOR signaling pathway, organism-specific biosystem (from KEGG)
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    • mTOR signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      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...
    • mTOR signalling, organism-specific biosystem (from REACTOME)
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    • mTORC1-mediated signalling, organism-specific biosystem (from REACTOME)
      mTORC1-mediated signalling, organism-specific biosystemmTORC1 integrates four major signals ? growth factors, energy status, oxygen and amino acids ? to regulate many processes that are involved in the promotion of cell growth. Growth factors stimulate m...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    PDZ domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    kinase activity TAS
    Traceable Author Statement
    more info
     
    peptide binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein phosphatase 2A binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein serine/threonine/tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ribosomal protein S6 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    G1/S transition of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    TOR signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    aging IEA
    Inferred from Electronic Annotation
    more info
     
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    behavioral fear response IEA
    Inferred from Electronic Annotation
    more info
     
    cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to dexamethasone stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to growth factor stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    germ cell development IEA
    Inferred from Electronic Annotation
    more info
     
    long-term memory IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of extrinsic apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of insulin receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    phosphatidylinositol-mediated signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of skeletal muscle tissue growth IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of smooth muscle cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of smooth muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of translation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of translational initiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein kinase B signaling IEA
    Inferred from Electronic Annotation
    more info
     
    protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of glucose import IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to electrical stimulus involved in regulation of muscle adaptation IEA
    Inferred from Electronic Annotation
    more info
     
    response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    response to glucagon IEA
    Inferred from Electronic Annotation
    more info
     
    response to glucose IEA
    Inferred from Electronic Annotation
    more info
     
    response to heat IEA
    Inferred from Electronic Annotation
    more info
     
    response to insulin IEA
    Inferred from Electronic Annotation
    more info
     
    response to leucine IEA
    Inferred from Electronic Annotation
    more info
     
    response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    response to nutrient IEA
    Inferred from Electronic Annotation
    more info
     
    response to testosterone IEA
    Inferred from Electronic Annotation
    more info
     
    response to toxic substance IEA
    Inferred from Electronic Annotation
    more info
     
    response to tumor necrosis factor IEA
    Inferred from Electronic Annotation
    more info
     
    response to wounding IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    skeletal muscle atrophy IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal muscle contraction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    mitochondrial outer membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuron projection IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    synapse IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    ribosomal protein S6 kinase beta-1
    Names
    p70 S6 kinase, alpha
    ribosomal protein S6 kinase I
    ribosomal protein S6 kinase, 70kDa, polypeptide 1
    serine/threonine kinase 14 alpha
    serine/threonine-protein kinase 14A
    NP_001258971.1
    NP_001258972.1
    NP_001258973.1
    NP_001258989.1
    NP_003152.1
    XP_011523403.1
    XP_011523404.1
    XP_011523405.1
    XP_016880418.1
    XP_016880419.1
    XP_016880420.1
    XP_016880421.1
    XP_016880422.1

    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_029513.1 RefSeqGene

      Range
      4965..62345
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001272042.1NP_001258971.1  ribosomal protein S6 kinase beta-1 isoform b

      See identical proteins and their annotated locations for NP_001258971.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. This variant can initiate translation from two alternate in-frame AUG start codons. The isoform represented in this RefSeq (b) is derived from the first AUG start codon, and is shorter than isoform a.
      Source sequence(s)
      AC004686, AK297147, AK300202, BP359158, CA444907
      Consensus CDS
      CCDS62272.1
      UniProtKB/Swiss-Prot
      P23443
      Related
      ENSP00000441993.1, OTTHUMP00000263066, ENST00000443572.6, OTTHUMT00000449152
      Conserved Domains (2) summary
      smart00220
      Location:91329
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd05584
      Location:94393
      STKc_p70S6K; Catalytic domain of the Serine/Threonine Kinase, 70 kDa ribosomal protein S6 kinase
    2. NM_001272043.1NP_001258972.1  ribosomal protein S6 kinase beta-1 isoform c

      See identical proteins and their annotated locations for NP_001258972.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. This variant can initiate translation from two alternate in-frame AUG start codons. The isoform represented in this RefSeq (c) is derived from the first AUG start codon. It has a distinct C-terminus, and is shorter than isoform a.
      Source sequence(s)
      AC004686, BC053365, BP359158, CA444907
      Consensus CDS
      CCDS62271.1
      UniProtKB/Swiss-Prot
      P23443
      Related
      ENSP00000384335.3, OTTHUMP00000198110, ENST00000406116.7, OTTHUMT00000319325
      Conserved Domains (2) summary
      smart00220
      Location:91352
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd05584
      Location:94416
      STKc_p70S6K; Catalytic domain of the Serine/Threonine Kinase, 70 kDa ribosomal protein S6 kinase
    3. NM_001272044.1NP_001258973.1  ribosomal protein S6 kinase beta-1 isoform d

      See identical proteins and their annotated locations for NP_001258973.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate exon in the 5' region, and initiates translation at the third in-frame start codon, compared to variant 1. The encoded isoform (d) has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AC004686, AK297147, BP359158, CA444907
      Consensus CDS
      CCDS62273.1
      UniProtKB/Swiss-Prot
      P23443
      Related
      ENSP00000376744.3, ENST00000393021.7
      Conserved Domains (2) summary
      smart00220
      Location:38299
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd05584
      Location:41363
      STKc_p70S6K; Catalytic domain of the Serine/Threonine Kinase, 70 kDa ribosomal protein S6 kinase
    4. NM_001272060.1NP_001258989.1  ribosomal protein S6 kinase beta-1 isoform e

      See identical proteins and their annotated locations for NP_001258989.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) can initiate translation from two alternate in-frame AUG start codons. The isoform represented in this RefSeq (e, also known as p70 or alpha II) is derived from the second AUG start codon, and is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AC004686, AK297147, AK312875, BP359158, CA444907
      UniProtKB/Swiss-Prot
      P23443
      Conserved Domains (2) summary
      smart00220
      Location:68329
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd05584
      Location:71393
      STKc_p70S6K; Catalytic domain of the Serine/Threonine Kinase, 70 kDa ribosomal protein S6 kinase
    5. NM_003161.3NP_003152.1  ribosomal protein S6 kinase beta-1 isoform a

      See identical proteins and their annotated locations for NP_003152.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) can initiate translation from two alternate in-frame AUG start codons. The isoform represented in this RefSeq (a, also known as p85 or alpha I) is derived from the first AUG start codon, and is the longest isoform.
      Source sequence(s)
      AC004686, AK297147, AK312875, BP359158, CA444907
      Consensus CDS
      CCDS11621.1
      UniProtKB/Swiss-Prot
      P23443
      Related
      ENSP00000225577.4, OTTHUMP00000198109, ENST00000225577.8, OTTHUMT00000319324
      Conserved Domains (2) summary
      smart00220
      Location:91352
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd05584
      Location:94416
      STKc_p70S6K; Catalytic domain of the Serine/Threonine Kinase, 70 kDa ribosomal protein S6 kinase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      59893046..59950426
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525101.2XP_011523403.1  ribosomal protein S6 kinase beta-1 isoform X1

      Conserved Domains (2) summary
      smart00220
      Location:91352
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd05584
      Location:94380
      STKc_p70S6K; Catalytic domain of the Serine/Threonine Kinase, 70 kDa ribosomal protein S6 kinase
    2. XM_011525102.2XP_011523404.1  ribosomal protein S6 kinase beta-1 isoform X3

      Conserved Domains (2) summary
      smart00220
      Location:91352
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd05584
      Location:94378
      STKc_p70S6K; Catalytic domain of the Serine/Threonine Kinase, 70 kDa ribosomal protein S6 kinase
    3. XM_017024930.1XP_016880419.1  ribosomal protein S6 kinase beta-1 isoform X4

      Conserved Domains (2) summary
      smart00220
      Location:2149
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cl21453
      Location:1213
      PKc_like; Protein Kinases, catalytic domain
    4. XM_017024929.1XP_016880418.1  ribosomal protein S6 kinase beta-1 isoform X2

    5. XM_011525103.2XP_011523405.1  ribosomal protein S6 kinase beta-1 isoform X4

      See identical proteins and their annotated locations for XP_011523405.1

      Conserved Domains (2) summary
      smart00220
      Location:2149
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cl21453
      Location:1213
      PKc_like; Protein Kinases, catalytic domain
    6. XM_017024931.1XP_016880420.1  ribosomal protein S6 kinase beta-1 isoform X4

      Conserved Domains (2) summary
      smart00220
      Location:2149
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cl21453
      Location:1213
      PKc_like; Protein Kinases, catalytic domain
    7. XM_017024932.1XP_016880421.1  ribosomal protein S6 kinase beta-1 isoform X4

      Conserved Domains (2) summary
      smart00220
      Location:2149
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cl21453
      Location:1213
      PKc_like; Protein Kinases, catalytic domain
    8. XM_017024933.1XP_016880422.1  ribosomal protein S6 kinase beta-1 isoform X5

    RNA

    1. XR_001752582.1 RNA Sequence

    2. XR_001752583.1 RNA Sequence

    3. XR_001752581.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      58034428..58091804
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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