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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CDKN1B Gene

protein-coding   GIFtS: 70
GCID: GC12P012867

cyclin-dependent kinase inhibitor 1B (p27, Kip1)

 Explore 198 diseases affiliated with
CDKN1B via our new
 Human Malady Compendium 
Biological research products
for CDKN1B
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Cyclin-Dependent Kinase Inhibitor 1B (P27, Kip1)1 2     MEN1B2
KIP11 2 3 5     Cyclin-Dependent Kinase Inhibitor 1B2
P27KIP11 2     Cyclin-Dependent Kinase Inhibitor P273
CDKN42 5     P27Kip11
MEN42 5     

External Ids:    HGNC: 17851   Entrez Gene: 10272   Ensembl: ENSG000001112767   OMIM: 6007785   UniProtKB: P465273   

Export aliases for CDKN1B gene to outside databases

Previous GC identifers: GC12P012597 GC12P013015 GC12P012768 GC12P012761 GC12P012639


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CDKN1B:
This gene encodes a cyclin-dependent kinase inhibitor, which shares a limited similarity with CDK inhibitor CDKN1A/p21.
The encoded protein binds to and prevents the activation of cyclin E-CDK2 or cyclin D-CDK4 complexes, and thus
controls the cell cycle progression at G1. The degradation of this protein, which is triggered by its CDK dependent
phosphorylation and subsequent ubiquitination by SCF complexes, is required for the cellular transition from
quiescence to the proliferative state. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CDN1B_HUMAN, P46527
Function: Important regulator of cell cycle progression. Involved in G1 arrest. Potent inhibitor of cyclin E- and
cyclin A-CDK2 complexes. Forms a complex with cyclin type D-CDK4 complexes and is involved in the assembly, stability,
and modulation of CCND1-CDK4 complex activation. Acts either as an inhibitor or an activator of cyclin type D-CDK4
complexes depending on its phosphorylation state and/or stoichometry

Gene Wiki entry for CDKN1B


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009714.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CDKN1B gene promoter:
         AP-1   ATF-2   MyoD   GATA-1   FOXO4   FOXO1a   c-Jun   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCDKN1B promoter sequence
   Search SABiosciences Chromatin IP Primers for CDKN1B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CDKN1B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p13.1-p12   Ensembl cytogenetic band:  12p13.1   HGNC cytogenetic band: 12p13.1-p12

CDKN1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CDKN1B gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P012867:  view genomic region     (about GC identifiers)

Start:
12,867,992 bp from pter      End:
12,875,305 bp from pter
Size:
7,314 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CDN1B_HUMAN, P46527 (See protein sequence)
Recommended Name: Cyclin-dependent kinase inhibitor 1B  
Size: 198 amino acids; 22073 Da
Subunit: Forms a ternary compex with CCNE1/CDK2/CDKN1B. Interacts directly with CCNE1; the interaction is inhibited by
CDK2-dependent phosphorylation on Thr-187. Interacts with COPS5, subunit of the COP9 signalosome complex; the
interaction leads to CDKN1B degradation. Interacts with NUP50; the interaction leads to nuclear import and degradation
of phosphorylated CDKN1B. Interacts with CCND1 and SNX6 (By similarity). Interacts (Thr-198-phosphorylated form) with
14-3-3 proteins, binds strongly YWHAQ, weakly YWHAE and YWHAH, but not YWHAB nor YWHAZ; the interaction with YWHAQ
results in translocation to the cytoplasm. Interacts with AKT1 and LYN; the interactions lead to cytoplasmic
mislocation, phosphorylation of CDKN1B and inhibition of cell cycle arrest. Interacts (unphosphorylated form) with
CDK2. Forms a ternary complex, cyclin D/CDK4/CDKN1B. Interacts (phosphorylated on Tyr-88 and Tyr-89) with CDK4; the
interaction is required for cyclin D/CDK4 complex assembly, induces nuclear translocation and activates the CDK4
kinase activity. Interacts with GRB2. Interacts with PIM1. Identified in a complex with SKP1, SKP2 and CKS1B.
Interacts with UHMK1; the interaction leads to cytoplasmic mislocation, phosphorylation of CDKN1B and inhibition of
cell cycle arrest. Interacts also with CDK1
Subcellular location: Nucleus. Cytoplasm. Endosome (By similarity). Note=Nuclear and cytoplasmic in quiescent cells.
AKT- or RSK-mediated phosphorylation on Thr-198, binds 14-3-3, translocates to the cytoplasm and promotes cell cycle
progression. Mitogen-activated UHMK1 phosphorylation on Ser-10 also results in translocation to the cytoplasm and cell
cycle progression. Phosphorylation on Ser-10 facilitates nuclear export. Translocates to the nucleus on
phosphorylation of Tyr-88 and Tyr-89. Colocalizes at the endosome with SNX6; this leads to lysosomal degradation (By
similarity)
Miscellaneous: Decreased levels of p27Kip1, mainly due to proteasomal degradation, are found in various epithelial
tumors originating from lung, breast, colon, ovary, esophagus, thyroid and prostate
3 PDB 3D structures from and Proteopedia for CDKN1B:
1H27 (3D)        1JSU (3D)        2AST (3D)    
Secondary accessions: Q16307 Q5U0H2 Q9BUS6

Explore the universe of human proteins at neXtProt for CDKN1B: NX_P46527

Post-translational modifications:

  • Phosphorylated; phosphorylation occurs on serine, threonine and tyrosine residues. Phosphorylation on Ser-10 is the
  • major site of phosphorylation in resting cells, takes place at the G(0)-G(1) phase and leads to protein stability.
    Phosphorylation on other sites is greatly enhanced by mitogens, growth factors, cMYC and in certain cancer cell lines.
    The phosphorylated form found in the cytoplasm is inactivate. Phosphorylation on Thr-198 is required for interaction
    with 14-3-3 proteins. Phosphorylation on Thr-187, by CDK2 leads to protein ubiquitination and proteasomal degradation.
    Tyrosine phosphorylation promotes this process. Phosphorylation by PKB/AKT1 can be suppressed by LY294002, an
    inhibitor of the catalytic subunit of PI3K. Phosphorylation on Tyr-88 and Tyr-89 has no effect on binding CDK2, but is
    required for binding CDK4. Dephosphorylated on tyrosine residues by G-CSF1
  • Ubiquitinated; in the cytoplasm by the KPC complex (composed of RNF123/KPC1 and UBAC1/KPC2) and, in the nucleus, by
  • SCF(SKP2). The latter requires prior phosphorylation on Thr-187. Ubiquitinated; by a TRIM21-containing SCF(SKP2)-like
    complex; leads to its degradation1
  • Subject to degradation in the lysosome. Interaction with SNX6 promotes lysosomal degradation (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P46527

  • CDKN1B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004055.1  
    ENSEMBL proteins: 
     ENSP00000228872   ENSP00000379629   ENSP00000407597  
    Reactome Protein details: P46527
    Human Recombinant Protein Products: 
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    OriGene Purified Protein: CDKN1B
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    Novus Biologicals CDKN1B Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for CDKN1B
    Uscn Proteins for CDKN1B

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA11800646
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IDA12093740
    GO:0005768endosome IEA--
    GO:0005829cytosol TAS--


    CDKN1B for ontologies           About GeneDecksing



    CDKN1B Antibody Products: 
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    Uscn ELISAs and CLIAs for CDKN1B


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CDKN1B for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR003175 CDI

    Graphical View of Domain Structure for InterPro Entry P46527

    ProtoNet protein and cluster: P46527

    1 Blocks protein family: IPB003175 Cyclin-dependent kinase inhibitor

    UniProtKB/Swiss-Prot: CDN1B_HUMAN, P46527
    Domain: A peptide sequence containing only AA 28-79 retains substantial Kip1 cyclin A/CDK2 inhibitory activity
    Similarity: Belongs to the CDI family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: CDN1B_HUMAN, P46527
    Function: Important regulator of cell cycle progression. Involved in G1 arrest. Potent inhibitor of cyclin E- and
    cyclin A-CDK2 complexes. Forms a complex with cyclin type D-CDK4 complexes and is involved in the assembly, stability,
    and modulation of CCND1-CDK4 complex activation. Acts either as an inhibitor or an activator of cyclin type D-CDK4
    complexes depending on its phosphorylation state and/or stoichometry
    Induction: Maximal levels in quiescence cells and early G(1). Levels decrease after mitogen stimulation as cells
    progress toward S-phase

         Genatlas biochemistry entry for CDKN1B:
    cyclin dependent kinases 2 and 4 (CDK2,CDK4) inhibitor,p27 (Kip1),involved in G1 phase arrest,and in the cellular
    response after DNA damage in cell cycle exit in megacaryocyte,regulator of cell cycle,critical terminal effector of
    signal transduction pathways that control cell differentiation,overexpressed with CCND3 in agressive B cell
    lymphomas,underexpressed in the development and progression of oral squamous cell carcinoma and in
    thyroid,colon,breast,prostate and superficial bladder carcinomas,deleted in leukemias and other cancers with poor
    prognosis (pancreatic adenocarcinomas)degraded by proteasomes in gliomas

    miRNA
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    miRTarBase miRNAs that target CDKN1B:
    hsa-mir-192 (MIRT005064), hsa-mir-181a (MIRT004554), hsa-mir-222 (MIRT000131), hsa-mir-221 (MIRT000137), hsa-mir-128 (MIRT004417), hsa-mir-190 (MIRT005066), hsa-mir-24 (MIRT005063), hsa-mir-218 (MIRT005067), hsa-mir-196a (MIRT005065)

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    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004861cyclin-dependent protein kinase inhibitor activity IEA--
    GO:0005072transforming growth factor beta receptor, cytoplasmic mediator activity TAS8033212
    GO:0005515protein binding IPI--
    GO:0008656contributes to cysteine-type endopeptidase activator activity involved in apoptotic process IDA19266349
    GO:0016301kinase activity ----


    CDKN1B for ontologies           About GeneDecksing


    5 GenomeRNAi human phenotypes for CDKN1B:
     Cell division defect  Decreased influenza A H1N1 (A/  Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r 
     Increased cell number in G2M,  

    Animal Models:
         Mouse knock-outs for CDKN1B: Cdkn1btm1Kin Cdkn1btm1Ako Cdkn1btm2.1Mlf Cdkn1btm3Mlf Cdkn1btm1Mlf
         15/24 MGI mutant phenotypes (inferred from 12 alleles(MGI details for Cdkn1b) (see all 24):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     digestive/alimentary  endocrine/exocrine gland  growth/size  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 

    CDKN1B for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/59 super-pathways (see all 59About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Ubiquitinated Orc1 is degraded by the proteasome
    8/15 pathways (see all 15)
    p53-Dependent G1/S DNA damage checkpoint0.83
    Removal of licensing factors from origins0.68
    p53-Dependent G1 DNA Damage Response0.83
    Cyclin E associated events during G1/S transition 0.67
    G1/S DNA Damage Checkpoints0.79
    Cyclin A:Cdk2-associated events at S phase entry0.66
    Degradation of ubiquitinated p27/p21 by the 26S proteasome0.75
    Synthesis of DNA0.51
    2Signaling by FGFR
    8/12 pathways (see all 12)
    Signaling by FGFR1.00
    DAP12 signaling0.83
    Downstream signaling of activated FGFR0.92
    Signaling by EGFR in Cancer0.83
    Signaling by FGFR in disease0.91
    DAP12 interactions0.76
    Signaling by ERBB20.89
    Signaling by PDGF0.72
    3PIP3 activates AKT signaling
    8/10 pathways (see all 10)
    PIP3 activates AKT signaling1.00
    PI3K/AKT activation0.97
    PI3K/AKT Signaling in Cancer1.00
    GAB1 signalosome0.96
    PI3K events in ERBB2 signaling1.00
    Constitutive PI3K/AKT Signaling in Cancer0.88
    PI3K events in ERBB4 signaling1.00
    Signaling by SCF-KIT0.72
    4Cyclins and Cell Cycle Regulation
    Cyclins and Cell Cycle Regulation1.00
    Cyclin D associated events in G10.32
    G1-S Phase Transition0.67
    G1 Phase0.32
    5Immune System
    Immune System1.00
    Innate Immune System0.46
    Adaptive Immune System0.59

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5/8 EMD Millipore Pathways for CDKN1B (see all 8)
        Cell cycle Regulation of G1/S transition (part 1)
    Cell cycle Role of SCF complex in cell cycle regulation
    Development Role of Activin A in cell differentiation and proliferation
    Development Thrombopoietin-regulated cell processes
    Cell cycle ESR1 regulation of G1/S transition

    5/13 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CDKN1B (see all 13)
        ErbB2-ErbB3 Heterodimers
    HGF Pathway
    Molecular Mechanisms of Cancer
    Calpain Protease Regulates Cellular Mechanics
    TOB in T-Cell Signaling

    1 Cell Signaling Technology (CST) Pathway for CDKN1B
        Cell Cycle / Checkpoint Control

    5/8 GeneGo (Thomson Reuters) Pathways for CDKN1B (see all 8)
        Signal transduction AKT signaling
    Development Thrombopoietin-regulated cell processes
    Development Role of Activin A in cell differentiation and proliferation
    Cell cycle Role of SCF complex in cell cycle regulation
    Development Thrombopoetin signaling via JAK-STAT pathway

    5/26 BioSystems Pathways for CDKN1B (see all 26
        ErbB signaling pathway
    G1 to S cell cycle control
    Oncostatin M Signaling Pathway
    Signaling Pathways in Glioblastoma
    Senescence and Autophagy

    5/51        Reactome Pathways for CDKN1B (see all 51)
        Orc1 removal from chromatin
    Signaling by EGFR in Cancer
    G1/S DNA Damage Checkpoints
    S Phase
    Downstream signal transduction

    1 PharmGKB Pathway for CDKN1B
        Celecoxib Pathway, Pharmacodynamics

    5/7         Kegg Pathways  (Kegg details for CDKN1B) (see all 7):
        ErbB signaling pathway
    Cell cycle
    Measles
    Pathways in cancer
    Prostate cancer


    CDKN1B for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CDKN1B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/182 Interacting proteins for CDKN1B (P465271, 2, 3 ENSP000002288724) via UniProtKB, MINT, STRING, and/or I2D (see all 182)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCND2P302792, 3, ENSP000002612544MINT-67874 I2D: score=6 STRING: ENSP00000261254
    ARHGDIAP525652, 3, ENSP000002693214MINT-63858 I2D: score=5 STRING: ENSP00000269321
    CCNA2P202481, 3, ENSP000002740264EBI-519280,EBI-457097 I2D: score=5 STRING: ENSP00000274026
    COPS5Q929051, 3, ENSP000003505124EBI-519280,EBI-594661 I2D: score=5 STRING: ENSP00000350512
    GRB2P629932, 3, ENSP000003390074MINT-7219650 I2D: score=5 STRING: ENSP00000339007
    About this table

    Gene Ontology (GO): 5/37 biological process terms (GO ID links to tree view) (see all 37):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000075cell cycle checkpoint TAS--
    GO:0000079regulation of cyclin-dependent protein kinase activity TAS8033212
    GO:0000080G1 phase of mitotic cell cycle TAS--
    GO:0000082G1/S transition of mitotic cell cycle TAS--
    GO:0000084S phase of mitotic cell cycle TAS--


    CDKN1B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CDKN1B for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for CDKN1B
    10/102 Novoseek chemical compound relationships for CDKN1B gene (see all 102)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ly294002 55.1 8 15588951 (2), 12242656 (1), 19443725 (1), 11709727 (1) (see all 7)
    leptomycin b 50.2 9 15735731 (3), 16842750 (1), 11889117 (1)
    eb 1089 49.4 6 12586749 (3), 16340750 (2), 10640426 (1)
    1,25 dihydroxy vitamin d3 44.6 17 9697881 (5), 9652739 (2), 16883603 (1), 16322758 (1) (see all 8)
    mg 132 43.8 2 15173011 (1), 12646415 (1)
    ciglitazone 43.5 9 15763423 (6), 15951157 (1)
    trastuzumab 43.1 20 15611642 (6), 14648698 (3), 15173011 (2), 15642702 (1) (see all 7)
    bromodeoxyuridine 43 2 11738067 (1)
    mimosine 42.6 8 10623466 (4), 10530763 (1), 15855174 (1), 15923641 (1)
    rapamycin 41.5 14 20097763 (3), 8895523 (2), 12393532 (1), 16862180 (1) (see all 9)

    Search CenterWatch for drugs/clinical trials and news about CDKN1B / CDN1B 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CDKN1B gene: 
    NM_004064.3  

    Unigene Cluster for CDKN1B:

    Cyclin-dependent kinase inhibitor 1B (p27, Kip1)
    Hs.238990  [show with all ESTs]
    Unigene Representative Sequence: NM_004064
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000477087 ENST00000228872(uc001rat.2) ENST00000396340 ENST00000442489


    miRNA
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    8/60 QIAGEN miScript miRNA Assays for microRNAs that regulate CDKN1B (see all 60):
    hsa-miR-323-3p hsa-miR-607 hsa-miR-520f hsa-miR-429 hsa-miR-488 hsa-miR-105 hsa-miR-3171 hsa-miR-890
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    Additional cDNA sequence: 

    AB451291.1 AB451423.1 AF247551.1 AJ616234.1 AK298335.1 AK312461.1 AY004255.1 BC001971.1 
    BT019553.1 BT019554.1 CR457399.1 U10906.1 

    13 DOTS entries:

    DT.417848  DT.100820961  DT.95238381  DT.95374074  DT.100820955  DT.100820956  DT.101970489  DT.121171409 
    DT.121171413  DT.91687599  DT.95374072  DT.95374076  DT.92038526 

    24/236 AceView cDNA sequences (see all 236):

    BG928753 AW022687 AI419631 AA988214 AA614403 AW023852 BF221469 H13167 
    AI339337 CA337570 CA450020 U10906 AI671934 BM055406 AA749161 AA897321 
    AA506275 BQ029289 AI093778 AI380694 AI284117 AI201163 R81658 CR592928 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CDKN1B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTTGTGCAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    CDKN1B expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeInner Nuclear LayerMature Muller Glia CellsMuller Glia, Retina
    KidneyPodocyte LayerPodocytesKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CDKN1B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CDKN1B

    SOURCE GeneReport for Unigene cluster: Hs.238990

    UniProtKB/Swiss-Prot: CDN1B_HUMAN, P46527
    Tissue specificity: Expressed in all tissues tested. Highest levels in skeletal muscle, lowest in liver and kidney

        SABiosciences Expression via Pathway-Focused PCR Arrays including CDKN1B (see all 15): 
              G-Protein-Coupled Receptor Signaling PathwayFinder in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              Leukemia in human mouse rat
              Autophagy in human mouse rat
              Liver Cancer in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CDKN1B gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cdkn1b1 , 5 cyclin-dependent kinase inhibitor 1B1, 5 87.24(n)1
    87.76(a)1
      6 (65.77 cM)5
    125761  NM_009875.41  NP_034005.21 
     1349204015 
    chicken
    (Gallus gallus)
    Aves CDKN1B1 cyclin-dependent kinase inhibitor 1B (p27, Kip1) 76.6(n)
    68.69(a)
      374106  NM_204256.2  NP_989587.1 
    lizard
    (Anolis carolinensis)
    Reptilia CDKN1B6
    --
    48(a)
    1 ↔ 1
    GL343579.1(387419-392046)
    zebrafish
    (Danio rerio)
    Actinopterygii BC056746.12   -- 76.24(n)    BC056746.1 


    ENSEMBL Gene Tree for CDKN1B (if available)
    TreeFam Gene Tree for CDKN1B (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CDKN1B gene
    CDKN1C2  CDKN1A2  
    3 SIMAP similar genes for CDKN1B using alignment to 6 protein entries:     CDN1B_HUMAN (see all proteins):
    p27 kip1    CDKN1C    CDKN1A

    CDKN1B for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/156 NCBI SNPs in CDKN1B are shown (see all 156    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219178321,2
    Cpathogenic12640591(+) CGAGTA/GGCAAG 2 * W stg10--------
    rs362282031,2
    C,--12637993(+) ACCCC-/TGTCCT 1 -- us2k10--------
    rs357567411,2
    C,F,--12638293(-) CCAGGG/AACATG 1 -- us2k15Minor allele frequency- A:0.08NA CSA WA 244
    rs2019235821,2
    C--12639137(+) TTTTTG/TTTTTT 1 -- us2k10--------
    rs110550281,2
    C--12639301(+) TTCTGA/GGTTAA 1 -- us2k10--------
    rs2487431,2
    C,F,--12639378(+) CCAGCC/TCCCCC 1 -- us2k13Minor allele frequency- T:0.07NA WA 122
    rs362284991,2
    C,--12639527(-) TCCTCG/TCCCGG 1 -- us2k15Minor allele frequency- T:0.37NA WA EA 362
    rs362284951,2
    C--12639679(+) GCAGGC/TTTGTT 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs30937281,2
    C,F,H,--12640099(+) CTCTCC/GGCTTG 1 -- ut51 ese35Minor allele frequency- G:0.02NS 762
    rs20668281,2
    C,F--12640407(+) TGGAGC/TGGATG 2 R W mis1 ese312Minor allele frequency- T:0.01NA NS MN 1218

    HapMap Linkage Disequilibrium report for CDKN1B (12867992 - 12875305 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CDKN1B: --
    Human Gene Mutation Database (HGMD): CDKN1B

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CDKN1B for disorders           About GeneDecksing

    OMIM gene information: 600778   
    OMIM disorders: 610755  
    UniProtKB/Swiss-Prot: CDN1B_HUMAN, P46527
  • Defects in CDKN1B are the cause of multiple endocrine neoplasia type 4 (MEN4) [MIM:610755]. Multiple endocrine
  • neoplasia (MEN) syndromes are inherited cancer syndromes of the thyroid. MEN4 is a MEN-like syndrome with a phenotypic
    overlap of both MEN1 and MEN2

    20/198 diseases for CDKN1B (see all 198):    About MalaCards
    blastic plasmacytoid dendritic cell    multiple endocrine neoplasia    monoclonal gammopathy of undetermined significance    mature t-cell and nk-cell neoplasm
    multiple endocrine neoplasia type 4    anaplastic large cell lymphoma    diffuse large b-cell lymphoma    squamous cell carcinoma
    central nervous system lymphoma    fallopian tube carcinoma    non-small cell lung carcinoma    collecting duct carcinoma
    b-cell lymphomas    hypervitaminosis a    parathyroid adenoma    basaloid squamous cell carcinoma
    carcinoma    testicular germ cell tumor    cervical squamous cell carcinoma    clear cell renal cell carcinoma

    8 diseases from the University of Copenhagen DISEASES database for CDKN1B:
    Retinoblastoma     Carcinoma     Wermer syndrome     Carney complex
    Leukemia     Breast cancer     Prostate cancer     Adenoma

    10/96 Novoseek disease relationships for CDKN1B gene (see all 96)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoblastoma 80.4 45 12783864 (2), 9083081 (2), 16740772 (2), 8916935 (1) (see all 40)
    tumors 68.8 455 12605366 (8), 10329035 (6), 19293259 (5), 10559792 (5) (see all 99)
    cancer 61 123 9683802 (3), 11266285 (2), 19082479 (2), 10404130 (2) (see all 82)
    aggressiveness 56.8 15 19866239 (2), 10223564 (2), 9864434 (1), 10514396 (1) (see all 13)
    multiple endocrine neoplasia type 1 56 5 17613552 (1), 18673462 (1), 17299066 (1), 17803708 (1)
    prostate cancer 52.5 71 15265403 (4), 14960249 (3), 17070313 (3), 9458103 (3) (see all 37)
    multiple endocrine neoplasia 51.8 8 17961654 (1), 18710468 (1), 17097557 (1), 17613552 (1) (see all 5)
    carcinoma 51.7 63 18036045 (5), 9426067 (5), 12150617 (3), 9466585 (3) (see all 33)
    carcinoma squamous cell 51.2 35 11854065 (2), 15645120 (2), 9683778 (2), 12530030 (2) (see all 28)
    lip squamous cell carcinoma 50.6 3 14662421 (2), 15743689 (1)

    Genetic Association Database (GAD): CDKN1B
    Human Genome Epidemiology (HuGE) Navigator: CDKN1B (63 documents)
    Tumor Gene Database (TGDB): CDKN1B

    Export disorders for CDKN1B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CDKN1B gene, integrated from 9 sources (see all 1552):
    (articles sorted by number of sources associating them with CDKN1B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of p27Kip1, a cyclin-dependent kinase inhibitor and a potential mediator of extracellular antimitogenic signals. (PubMed id 8033212)1, 2, 3, 9 Polyak K.... Massague J. (1994)
    2. Akt-dependent phosphorylation of p27Kip1 promotes binding to 14-3-3 and cytoplasmic localization. (PubMed id 12042314)1, 2, 9 Fujita N.... Tsuruo T. (2002)
    3. The V109G polymorphism of the p27 gene CDKN1B indicates a worse outcome in node-negative breast cancer patients. (PubMed id 15627896)1, 4, 9 Schondorf T....Hoopmann M. (2004)
    4. A single-nucleotide polymorphism in the human p27kip1 gene (-838C>A) affects basal promoter activity and the risk of myocardial infarction. (PubMed id 15061869)1, 4, 9 Gonzalez P....Andres V. (2004)
    5. Assignment of the human p27Kip1 gene to 12p13 and its analysis in leukemias. (PubMed id 7882309)1, 2, 9 Pietenpol J.A.... Rowley J.D. (1995)
    6. Phosphorylation of p27Kip1 by JAK2 directly links cytokine receptor signaling to cell cycle control. (PubMed id 21423214)1, 2 Jakel H.... Hengst L. (2011)
    7. A novel germline CDKN1B mutation causing multiple endocrine tumors: clinical, genetic and functional characterization. (PubMed id 20824794)1, 2 Molatore S.... Pellegata N.S. (2010)
    8. Pim kinases promote cell cycle progression by phosphorylating and down-regulating p27Kip1 at the transcriptional and posttranscriptional levels. (PubMed id 18593906)1, 2 Morishita D.... Fujita N. (2008)
    9. Cdk-inhibitory activity and stability of p27Kip1 are directly regulated by oncogenic tyrosine kinases. (PubMed id 17254966)1, 2 Grimmler M.... Hengst L. (2007)
    10. Germ-line mutations in p27(Kip1) cause a multiple endocrine neoplasia syndrome in rats and humans. (PubMed id 17030811)1, 2 Pellegata N.S.... Atkinson M.J. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1027 HGNC: 1785 AceView: CDKN1B Ensembl:ENSG00000111276 euGenes: HUgn1027
    ECgene: CDKN1B Kegg: 1027 H-InvDB: CDKN1B

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CDKN1B Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CDKN1B Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/cdkn1b/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CDKN1B gene:
    Search GeneIP for patents involving CDKN1B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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