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RPS6KB1 (ribosomal protein S6 kinase B1)

Identity

Alias_namesSTK14A
ribosomal protein S6 kinase
Alias_symbol (synonym)S6K1
p70(S6K)-alpha
PS6K
Other aliasS6K
S6K-beta-1
p70 S6KA
p70-S6K
p70-alpha
HGNC (Hugo) RPS6KB1
LocusID (NCBI) 6198
Atlas_Id 42168
Location 17q23.1  [Link to chromosome band 17q23]
Location_base_pair Starts at 59893046 and ends at 59950425 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
C1orf132 () / RPS6KB1 (17q23.1)CLTC (17q23.1) / RPS6KB1 (17q23.1)DDX42 (17q23.3) / RPS6KB1 (17q23.1)
INTS2 (17q23.2) / RPS6KB1 (17q23.1)RPS6KB1 (17q23.1) / DIAPH3 (13q21.2)RPS6KB1 (17q23.1) / EFCAB3 (17q23.2)
RPS6KB1 (17q23.1) / PCNX2 (1q42.2)RPS6KB1 (17q23.1) / RNF213 (17q25.3)RPS6KB1 (17q23.1) / SNF8 (17q21.32)
RPS6KB1 (17q23.1) / TEX2 (17q23.3)RPS6KB1 (17q23.1) / TUBD1 (17q23.1)RPS6KB1 (17q23.1) / VMP1 (17q23.1)
TUBD1 (17q23.1) / RPS6KB1 (17q23.1)C1orf132 1q32.2 / RPS6KB1 17q23.1DDX42 17q23.3 / RPS6KB1 17q23.1
RPS6KB1 17q23.1 / EFCAB3 17q23.2RPS6KB1 17q23.1 / RNF213 17q25.3RPS6KB1 17q23.1 / TEX2 17q23.3
RPS6KB1 17q23.1 / TUBD1 17q23.1RPS6KB1 17q23.1 / VMP1 17q23.1TUBD1 17q23.1 / RPS6KB1 17q23.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  Lymphangioleiomyomatosis
Soft Tissues: Lymphangioleiomyoma
Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)RPS6KB1   10436
Cards
Entrez_Gene (NCBI)RPS6KB1  6198  ribosomal protein S6 kinase B1
AliasesPS6K; S6K; S6K-beta-1; S6K1; 
STK14A; p70; p70(S6K)-alpha; p70-S6K; p70-alpha
GeneCards (Weizmann)RPS6KB1
Ensembl hg19 (Hinxton)ENSG00000108443 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108443 [Gene_View]  chr17:59893046-59950425 [Contig_View]  RPS6KB1 [Vega]
ICGC DataPortalENSG00000108443
TCGA cBioPortalRPS6KB1
AceView (NCBI)RPS6KB1
Genatlas (Paris)RPS6KB1
WikiGenes6198
SOURCE (Princeton)RPS6KB1
Genetics Home Reference (NIH)RPS6KB1
Genomic and cartography
GoldenPath hg38 (UCSC)RPS6KB1  -     chr17:59893046-59950425 +  17q23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RPS6KB1  -     17q23.1   [Description]    (hg19-Feb_2009)
EnsemblRPS6KB1 - 17q23.1 [CytoView hg19]  RPS6KB1 - 17q23.1 [CytoView hg38]
Mapping of homologs : NCBIRPS6KB1 [Mapview hg19]  RPS6KB1 [Mapview hg38]
OMIM608938   
Gene and transcription
Genbank (Entrez)AA424792 AI806441 AK026730 AK091503 AK293247
RefSeq transcript (Entrez)NM_001272042 NM_001272043 NM_001272044 NM_001272060 NM_003161
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RPS6KB1
Cluster EST : UnigeneHs.463642 [ NCBI ]
CGAP (NCI)Hs.463642
Alternative Splicing GalleryENSG00000108443
Gene ExpressionRPS6KB1 [ NCBI-GEO ]   RPS6KB1 [ EBI - ARRAY_EXPRESS ]   RPS6KB1 [ SEEK ]   RPS6KB1 [ MEM ]
Gene Expression Viewer (FireBrowse)RPS6KB1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6198
GTEX Portal (Tissue expression)RPS6KB1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP23443   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP23443  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP23443
Splice isoforms : SwissVarP23443
Catalytic activity : Enzyme2.7.11.1 [ Enzyme-Expasy ]   2.7.11.12.7.11.1 [ IntEnz-EBI ]   2.7.11.1 [ BRENDA ]   2.7.11.1 [ KEGG ]   
PhosPhoSitePlusP23443
Domaine pattern : Prosite (Expaxy)AGC_KINASE_CTER (PS51285)    PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domains : Interpro (EBI)AGC-kinase_C    Kinase-like_dom    Pkinase_C    Prot_kinase_dom    Protein_kinase_ATP_BS    Ribosomal_S6_kinase    Ser/Thr_kinase_AS   
Domain families : Pfam (Sanger)Pkinase (PF00069)    Pkinase_C (PF00433)   
Domain families : Pfam (NCBI)pfam00069    pfam00433   
Domain families : Smart (EMBL)S_TK_X (SM00133)  S_TKc (SM00220)  
Conserved Domain (NCBI)RPS6KB1
DMDM Disease mutations6198
Blocks (Seattle)RPS6KB1
PDB (SRS)3A60    3A61    3A62    3WE4    3WF5    3WF6    3WF7    3WF8    3WF9    4L3J    4L3L    4L42    4L43    4L44    4L45    4L46    4RLO    4RLP   
PDB (PDBSum)3A60    3A61    3A62    3WE4    3WF5    3WF6    3WF7    3WF8    3WF9    4L3J    4L3L    4L42    4L43    4L44    4L45    4L46    4RLO    4RLP   
PDB (IMB)3A60    3A61    3A62    3WE4    3WF5    3WF6    3WF7    3WF8    3WF9    4L3J    4L3L    4L42    4L43    4L44    4L45    4L46    4RLO    4RLP   
PDB (RSDB)3A60    3A61    3A62    3WE4    3WF5    3WF6    3WF7    3WF8    3WF9    4L3J    4L3L    4L42    4L43    4L44    4L45    4L46    4RLO    4RLP   
Structural Biology KnowledgeBase3A60    3A61    3A62    3WE4    3WF5    3WF6    3WF7    3WF8    3WF9    4L3J    4L3L    4L42    4L43    4L44    4L45    4L46    4RLO    4RLP   
SCOP (Structural Classification of Proteins)3A60    3A61    3A62    3WE4    3WF5    3WF6    3WF7    3WF8    3WF9    4L3J    4L3L    4L42    4L43    4L44    4L45    4L46    4RLO    4RLP   
CATH (Classification of proteins structures)3A60    3A61    3A62    3WE4    3WF5    3WF6    3WF7    3WF8    3WF9    4L3J    4L3L    4L42    4L43    4L44    4L45    4L46    4RLO    4RLP   
SuperfamilyP23443
Human Protein AtlasENSG00000108443
Peptide AtlasP23443
HPRD10202
IPIIPI00216132   IPI00759649   IPI01015773   IPI00878766   IPI00647496   IPI00795216   
Protein Interaction databases
DIP (DOE-UCLA)P23443
IntAct (EBI)P23443
FunCoupENSG00000108443
BioGRIDRPS6KB1
STRING (EMBL)RPS6KB1
ZODIACRPS6KB1
Ontologies - Pathways
QuickGOP23443
Ontology : AmiGOG1/S transition of mitotic cell cycle  behavioral fear response  skeletal muscle contraction  protein kinase activity  protein serine/threonine kinase activity  ribosomal protein S6 kinase activity  protein serine/threonine/tyrosine kinase activity  protein binding  ATP binding  nucleus  nucleoplasm  mitochondrion  mitochondrial outer membrane  cytosol  protein phosphorylation  apoptotic process  signal transduction  germ cell development  aging  response to nutrient  long-term memory  response to heat  response to wounding  response to mechanical stimulus  response to toxic substance  response to glucose  cell surface  skeletal muscle atrophy  response to electrical stimulus involved in regulation of muscle adaptation  positive regulation of smooth muscle cell migration  kinase activity  cell migration  cell junction  PDZ domain binding  TOR signaling  response to lipopolysaccharide  response to insulin  response to testosterone  response to glucagon  response to tumor necrosis factor  peptide binding  response to drug  identical protein binding  neuron projection  negative regulation of apoptotic process  response to leucine  protein kinase B signaling  synapse  response to ethanol  positive regulation of translation  positive regulation of mitotic cell cycle  positive regulation of translational initiation  regulation of glucose import  negative regulation of insulin receptor signaling pathway  phosphatidylinositol-mediated signaling  perinuclear region of cytoplasm  positive regulation of skeletal muscle tissue growth  positive regulation of smooth muscle cell proliferation  protein phosphatase 2A binding  cellular response to growth factor stimulus  cellular response to dexamethasone stimulus  negative regulation of extrinsic apoptotic signaling pathway  
Ontology : EGO-EBIG1/S transition of mitotic cell cycle  behavioral fear response  skeletal muscle contraction  protein kinase activity  protein serine/threonine kinase activity  ribosomal protein S6 kinase activity  protein serine/threonine/tyrosine kinase activity  protein binding  ATP binding  nucleus  nucleoplasm  mitochondrion  mitochondrial outer membrane  cytosol  protein phosphorylation  apoptotic process  signal transduction  germ cell development  aging  response to nutrient  long-term memory  response to heat  response to wounding  response to mechanical stimulus  response to toxic substance  response to glucose  cell surface  skeletal muscle atrophy  response to electrical stimulus involved in regulation of muscle adaptation  positive regulation of smooth muscle cell migration  kinase activity  cell migration  cell junction  PDZ domain binding  TOR signaling  response to lipopolysaccharide  response to insulin  response to testosterone  response to glucagon  response to tumor necrosis factor  peptide binding  response to drug  identical protein binding  neuron projection  negative regulation of apoptotic process  response to leucine  protein kinase B signaling  synapse  response to ethanol  positive regulation of translation  positive regulation of mitotic cell cycle  positive regulation of translational initiation  regulation of glucose import  negative regulation of insulin receptor signaling pathway  phosphatidylinositol-mediated signaling  perinuclear region of cytoplasm  positive regulation of skeletal muscle tissue growth  positive regulation of smooth muscle cell proliferation  protein phosphatase 2A binding  cellular response to growth factor stimulus  cellular response to dexamethasone stimulus  negative regulation of extrinsic apoptotic signaling pathway  
Pathways : BIOCARTA [Genes]   
Pathways : KEGG   
NDEx NetworkRPS6KB1
Atlas of Cancer Signalling NetworkRPS6KB1
Wikipedia pathwaysRPS6KB1
Orthology - Evolution
OrthoDB6198
GeneTree (enSembl)ENSG00000108443
Phylogenetic Trees/Animal Genes : TreeFamRPS6KB1
HOVERGENP23443
HOGENOMP23443
Homologs : HomoloGeneRPS6KB1
Homology/Alignments : Family Browser (UCSC)RPS6KB1
Gene fusions - Rearrangements
Fusion : MitelmanC1orf132/RPS6KB1 [1q32.2/17q23.1]  [t(1;17)(q32;q23)]  
Fusion : MitelmanDDX42/RPS6KB1 [17q23.3/17q23.1]  [t(17;17)(q23;q23)]  
Fusion : MitelmanRPS6KB1/DIAPH3 [17q23.1/13q21.2]  [t(13;17)(q21;q23)]  
Fusion : MitelmanRPS6KB1/EFCAB3 [17q23.1/17q23.2]  [t(17;17)(q23;q23)]  
Fusion : MitelmanRPS6KB1/RNF213 [17q23.1/17q25.3]  [t(17;17)(q23;q25)]  
Fusion : MitelmanRPS6KB1/SNF8 [17q23.1/17q21.32]  [t(17;17)(q21;q23)]  
Fusion : MitelmanRPS6KB1/TEX2 [17q23.1/17q23.3]  [t(17;17)(q23;q23)]  
Fusion : MitelmanRPS6KB1/TUBD1 [17q23.1/17q23.1]  [t(17;17)(q23;q23)]  
Fusion : MitelmanRPS6KB1/VMP1 [17q23.1/17q23.1]  [dup(17)(q23q23)]  [t(17;17)(q23;q23)]  
Fusion : MitelmanTUBD1/RPS6KB1 [17q23.1/17q23.1]  [t(17;17)(q23;q23)]  
Fusion: TCGAC1orf132 1q32.2 RPS6KB1 17q23.1 BRCA
Fusion: TCGADDX42 17q23.3 RPS6KB1 17q23.1 BRCA
Fusion: TCGARPS6KB1 17q23.1 EFCAB3 17q23.2 BRCA
Fusion: TCGARPS6KB1 17q23.1 RNF213 17q25.3 BRCA
Fusion: TCGARPS6KB1 17q23.1 TEX2 17q23.3 BRCA
Fusion: TCGARPS6KB1 17q23.1 TUBD1 17q23.1 BRCA
Fusion: TCGARPS6KB1 17q23.1 VMP1 17q23.1 BLCA BRCA HNSC LUAD OV
Fusion: TCGATUBD1 17q23.1 RPS6KB1 17q23.1 LUAD
Fusion Cancer (Beijing)RPS6KB1 [17q23.1]  -  VMP1 [17q23.1]  [FUSC001256]  [FUSC001256]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRPS6KB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RPS6KB1
dbVarRPS6KB1
ClinVarRPS6KB1
1000_GenomesRPS6KB1 
Exome Variant ServerRPS6KB1
ExAC (Exome Aggregation Consortium)RPS6KB1 (select the gene name)
Genetic variants : HAPMAP6198
Genomic Variants (DGV)RPS6KB1 [DGVbeta]
DECIPHERRPS6KB1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRPS6KB1 
Mutations
ICGC Data PortalRPS6KB1 
TCGA Data PortalRPS6KB1 
Broad Tumor PortalRPS6KB1
OASIS PortalRPS6KB1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRPS6KB1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRPS6KB1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch RPS6KB1
DgiDB (Drug Gene Interaction Database)RPS6KB1
DoCM (Curated mutations)RPS6KB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RPS6KB1 (select a term)
intoGenRPS6KB1
Cancer3DRPS6KB1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608938   
Orphanet
MedgenRPS6KB1
Genetic Testing Registry RPS6KB1
NextProtP23443 [Medical]
TSGene6198
GENETestsRPS6KB1
Target ValidationRPS6KB1
Huge Navigator RPS6KB1 [HugePedia]
snp3D : Map Gene to Disease6198
BioCentury BCIQRPS6KB1
ClinGenRPS6KB1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6198
Chemical/Pharm GKB GenePA34851
Clinical trialRPS6KB1
Miscellaneous
canSAR (ICR)RPS6KB1 (select the gene name)
Probes
Litterature
PubMed321 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRPS6KB1
EVEXRPS6KB1
GoPubMedRPS6KB1
iHOPRPS6KB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:53:59 CEST 2017

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