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

CBX1 Gene

protein-coding   GIFtS: 59
GCID: GC17M046147

Chromobox Homolog 1

(Previous name: chromobox homolog 1 (Drosophila HP1 beta))
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Chromobox Homolog 11 2     HP1Hs-beta2
Heterochromatin Protein 1 Homolog Beta2 3     MOD12
Modifier 1 Protein2 3     Chromobox Homolog 1 (HP1 Beta Homolog Drosophila )2
CBX2 3     Chromobox Protein Homolog 12
HP1Hsbeta2 3     Heterochromatin Protein 1-Beta2
M312 3     Heterochromatin Protein P25 Beta2
p25beta2 3     HP1 Beta Homolog2
Chromobox Homolog 1 (Drosophila HP1 Beta)1     Heterochromatin Protein P253
HP1 Beta Homolog (Drosophila )1     HP1 Beta3
HP1-BETA2     

External Ids:    HGNC: 15511   Entrez Gene: 109512   Ensembl: ENSG000001084687   OMIM: 6045115   UniProtKB: P839163   

Export aliases for CBX1 gene to outside databases

Previous GC identifers: GC17M045852 GC17M048627 GC17M046489 GC17M046622 GC17M043502 GC17M041515


(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 CBX1 Gene:
This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family .
The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single
N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal
chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of
chromatin-associated nonhistone proteins. The protein may play an important role in the epigenetic control of
chromatin structure and gene expression. Several related pseudogenes are located on chromosomes 1, 3, and X.
Multiple alternatively spliced variants, encoding the same protein, have been identified. (provided by RefSeq,
Jul 2008)

GeneCards Summary for CBX1 Gene: 
CBX1 (chromobox homolog 1) is a protein-coding gene. Diseases associated with CBX1 include mandibuloacral dysplasia, and williams syndrome, and among its related super-pathways are Signal transduction Activin A signaling regulation. GO annotations related to this gene include enzyme binding and identical protein binding. An important paralog of this gene is CBX3.

UniProtKB/Swiss-Prot: CBX1_HUMAN, P83916
Function: Component of heterochromatin. Recognizes and binds histone H3 tails methylated at 'Lys-9', leading to
epigenetic repression. Interaction with lamin B receptor (LBR) can contribute to the association of the
heterochromatin with the inner nuclear membrane

Gene Wiki entry for CBX1 Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CBX1 gene promoter:
         CREB   deltaCREB   NF-kappaB1   NF-kappaB   Pax-4a   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCBX1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CBX1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CBX1


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

Entrez Gene cytogenetic band: 17q21.32   Ensembl cytogenetic band:  17q21.32   HGNC cytogenetic band: 17q21.32

CBX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CBX1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M046147:  view genomic region     (about GC identifiers)

Start:
46,147,414 bp from pter      End:
46,178,883 bp from pter
Size:
31,470 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CBX1_HUMAN, P83916 (See protein sequence)
Recommended Name: Chromobox protein homolog 1  
Size: 185 amino acids; 21418 Da
Subunit: Homodimer. Interacts directly with CHAF1A, EMSY, LBR, TIF1/TIF1A and TRIM28/TIF1B PXVXL motif via the
chromoshadow domain. Interacts directly with histone H3 methylated at 'Lys-9' via the chromo domain. Interacts
with SUV39H1 and SETDB1, SUV420H1 and SUV420H2. Interacts with PRDM6. Interacts with POGZ. Interacts with CHAMP1.
Interacts with ASXL1
Subcellular location: Nucleus. Note=Unassociated with chromosomes during mitosis
3 PDB 3D structures from and Proteopedia for CBX1:
2FMM (3D)        3F2U (3D)        3Q6S (3D)    
Secondary accessions: P23197

Explore the universe of human proteins at neXtProt for CBX1: NX_P83916

Explore proteomics data for CBX1 at MOPED 

Post-translational modifications:

  • UniProtKB: Not phosphorylated
  • UniProtKB: Ubiquitinated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P83916

  • CBX1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CBX1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001120700.1  NP_006798.1  

    ENSEMBL proteins: 
     ENSP00000377060   ENSP00000225603   ENSP00000462242   ENSP00000385413   ENSP00000465985  
     ENSP00000393179  

    Human Recombinant Protein Products for CBX1: 
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    Novus Biologicals CBX1 Proteins
    Novus Biologicals CBX1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for CBX1
    Cloud-Clone Corp. Proteins for CBX1 

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000775chromosome, centromeric region IDA8287692
    GO:0000785chromatin IDA11101528
    GO:0001939female pronucleus IEA--
    GO:0001940male pronucleus IEA--
    GO:0005634nucleus ----

    CBX1 for ontologies           About GeneDecksing



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    LSBio Antibodies in human, mouse, rat for CBX1 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR000953 Chromo_domain/shadow
     IPR023780 Chromo_domain
     IPR016197 Chromodomain-like
     IPR023779 Chromodomain_CS
     IPR017984 Chromo_dom_subgr

    Graphical View of Domain Structure for InterPro Entry P83916

    ProtoNet protein and cluster: P83916

    1 Blocks protein domain: IPB008251 Chromo shadow

    UniProtKB/Swiss-Prot: CBX1_HUMAN, P83916
    Similarity: Contains 2 chromo domains


    CBX1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CBX1_HUMAN, P83916
    Function: Component of heterochromatin. Recognizes and binds histone H3 tails methylated at 'Lys-9', leading to
    epigenetic repression. Interaction with lamin B receptor (LBR) can contribute to the association of the
    heterochromatin with the inner nuclear membrane

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding TAS9169582
    GO:0005515protein binding IPI16415788
    GO:0019899enzyme binding IPI19486527
    GO:0042802identical protein binding IEA--
         
    CBX1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for CBX1:
     Decreased G3BP1 protein expres  Decreased Hepatitis C virus re  Decreased number of cells in m 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cbx1):
     homeostasis/metabolism  immune system  mortality/aging  normal 

    CBX1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CBX1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CBX1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CBX1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CBX1 

    miRNA
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    miRTarBase miRNAs that target CBX1:
    hsa-mir-210 (MIRT003170)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CBX1
    8/42 QIAGEN miScript miRNA Assays for microRNAs that regulate CBX1 (see all 42):
    hsa-miR-3678-3p hsa-miR-3607-3p hsa-miR-376b hsa-miR-29a hsa-miR-200a hsa-miR-139-5p hsa-miR-218 hsa-miR-141
    SwitchGear 3'UTR luciferase reporter plasmidCBX1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CBX1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Signal transduction Activin A signaling regulation
    Histone modification0.31
    2Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for CBX1
        Histone modification


    1 Cell Signaling Technology (CST) Pathway for CBX1
        Chromatin Regulation / Acetylation



    CBX1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CBX1

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

    5/108 Interacting proteins for CBX1 (P839161, 2, 3 ENSP000002256034) via UniProtKB, MINT, STRING, and/or I2D (see all 108)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H3CP684312, 3MINT-2830869 MINT-2830755 MINT-2829009 MINT-8087334 MINT-2829033 MINT-2828976 MINT-2829858 MINT-2830731 MINT-8087351 I2D: score=8 
    HIST1H3DP684312, 3MINT-2830869 MINT-2830755 MINT-2829009 MINT-8087334 MINT-2829033 MINT-2828976 MINT-2829858 MINT-2830731 MINT-8087351 I2D: score=8 
    HIST1H3EP684312, 3MINT-2830869 MINT-2830755 MINT-2829009 MINT-8087334 MINT-2829033 MINT-2828976 MINT-2829858 MINT-2830731 MINT-8087351 I2D: score=8 
    HIST1H3FP684312, 3MINT-2830869 MINT-2830755 MINT-2829009 MINT-8087334 MINT-2829033 MINT-2828976 MINT-2829858 MINT-2830731 MINT-8087351 I2D: score=8 
    HIST1H3GP684312, 3MINT-2830869 MINT-2830755 MINT-2829009 MINT-8087334 MINT-2829033 MINT-2828976 MINT-2829858 MINT-2830731 MINT-8087351 I2D: score=8 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0045892negative regulation of transcription, DNA-dependent IEA--

    CBX1 for ontologies           About GeneDecksing



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

    CBX1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CBX1

    1 Novoseek inferred chemical compound relationship for CBX1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 13.7 1 17038565 (1)

    Search CenterWatch for drugs/clinical trials and news about CBX1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CBX1 gene (2 alternative transcripts): 
    NM_001127228.1  NM_006807.4  

    Unigene Cluster for CBX1:

    Chromobox homolog 1
    Hs.77254  [show with all ESTs]
    Unigene Representative Sequence: NM_006807
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000393408(uc002ind.4) ENST00000225603(uc002ine.4) ENST00000581003
    ENST00000402583 ENST00000495350 ENST00000444685
    miRNA
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    8/42 QIAGEN miScript miRNA Assays for microRNAs that regulate CBX1 (see all 42):
    hsa-miR-3678-3p hsa-miR-3607-3p hsa-miR-376b hsa-miR-29a hsa-miR-200a hsa-miR-139-5p hsa-miR-218 hsa-miR-141
    SwitchGear 3'UTR luciferase reporter plasmidCBX1 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CBX1

    Additional mRNA sequence: 

    AK312615.1 BC002609.1 BC021302.2 CR456766.1 U35451.1 

    10 DOTS entries:

    DT.100792093  DT.119761  DT.100792090  DT.91763852  DT.91763848  DT.100044420  DT.121004469  DT.95218046 
    DT.121004449  DT.121004466 

    24/507 AceView cDNA sequences (see all 507):

    BU737173 BE742645 BG249202 BM549170 BE810322 W38873 BQ003274 BU734071 
    AA832516 BM126279 BM700375 AI370840 AA872922 AA614830 CB135342 BM680811 
    BE676794 C00060 BU684554 BU740016 AA136464 NM_006807 BE772751 AW273464 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CBX1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6
    SP1:                                                      
    SP2:              -                                       
    SP3:              -                                       
    SP4:                                                      


    ECgene alternative splicing isoforms for CBX1

    (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

    CBX1 expression in normal human tissues (normalized intensities)      CBX1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTTAGATTT
    CBX1 Expression
    About this image


    CBX1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/44 selected tissues (see all 44) fully expand
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Thalamus
             brain/midbrain   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Kidney (Urinary System)    fully expand to see all 4 entries
             Metanephros
             kidney ; cells in tubules   
             visceral organ/metanephros/renal cortex   
     
     Lung (Respiratory System)    fully expand to see all 4 entries
             Stem Bronchi
             lung ; pneumocytes   

    See CBX1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CBX1

    SOURCE GeneReport for Unigene cluster: Hs.77254

    UniProtKB/Swiss-Prot: CBX1_HUMAN, P83916
    Tissue specificity: Expressed in all adult and embryonic tissues

        SABiosciences Expression via Pathway-Focused PCR Arrays including CBX1: 
              Polycomb & Trithorax Complexes in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CBX1

    (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 animals.

    Orthologs for CBX1 gene from 7/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cbx11 , 5 chromobox homolog 1 (Drosophila HP1 beta)5
    chromobox 11
    94.59(n)1
    100(a)1
      11 (60.11 cM)5
    124121  NM_007622.31  NP_031648.11 
     967891275 
    chicken
    (Gallus gallus)
    Aves CBX11 chromobox homolog 1 84.68(n)
    95.68(a)
      374237  NM_204332.1  NP_989663.1 
    lizard
    (Anolis carolinensis)
    Reptilia CBX16
    Uncharacterized protein
    93(a)
    1 ↔ 1
    6(74984824-74996671)
    African clawed frog
    (Xenopus laevis)
    Amphibia CA973688.12   -- 79.42(n)    CA973688.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC045443.12   -- 79.56(n)   326746  BC045443.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta HP1b1 , 3 chromatin binding3
    CG7041-PA1
    58(a)3
    58.22(n)1
    63.01(a)1
      8C73
    318341  NM_001169242.11  NP_001162713.11 
    worm
    (Caenorhabditis elegans)
    Secernentea hpl-16
    Protein HPL-1
    30(a)
    1 → many
    X(13245390-13247044)


    ENSEMBL Gene Tree for CBX1 (if available)
    TreeFam Gene Tree for CBX1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CBX1 gene
    CBX32  CBX52  
    10 SIMAP similar genes for CBX1 using alignment to 7 protein entries:     CBX1_HUMAN (see all proteins):
    CBX3    CBX5    CBX4    CBX7    MPHOSPH8    CBX2
    CBX6    CDYL    SUV39H2    CDYL2

    CBX1 for paralogs           About GeneDecksing


    5 Pseudogenes.org Pseudogenes for CBX1
    PGOHUM00000245170 PGOHUM00000238256 PGOHUM00000241201 PGOHUM00000241348 PGOHUM00000241655


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/702 SNPs in CBX1 are shown (see all 702)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1484358571,2
    --41550741(+) ACCACA/GAACCC 1 -- int10--------
    rs116499951,2
    C,F,A,H--46146955(+) ACTCCA/GTCTCA 2 -- ds50015Minor allele frequency- G:0.36NA WA 14
    rs1431665511,2
    --46147011(+) AGTGCA/GCAAAC 2 -- ds50010--------
    rs116510971,2
    C,F,H--46147039(+) GAAAAT/CTTTGG 2 -- ds500129Minor allele frequency- C:0.29NS EA NA WA 2856
    rs1883473951,2
    --46147136(+) ATACCA/GTAGTT 2 -- ds50010--------
    rs1912627611,2
    --46147214(+) ATCTTC/TACAAC 2 -- ds50010--------
    rs10634881,2
    C--46147476(-) TTAAAT/CGTAAA 2 -- ut312Minor allele frequency- C:0.00NA 4
    rs1855645781,2
    --46147577(+) TTCTCA/GTGACT 2 -- ut310--------
    rs115549261,2
    F--46147724(+) TCACTA/CAACTC 2 -- ut31 ese33Minor allele frequency- C:0.04NA 124
    rs68471,2
    C,F,A,H--46147807(-) CGTTTA/TCTTTG 2 -- ut3132Minor allele frequency- T:0.29MN NA NS EA WA 3292

    HapMap Linkage Disequilibrium report for CBX1 (46147414 - 46178883 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for CBX1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2716011CNV Deletion23290073
    esv2663382CNV Deletion23128226
    esv2582446CNV Deletion19546169
    esv1003767CNV Insertion20482838
    nsv513477CNV Insertion21212237
    nsv908576CNV Gain21882294
    nsv469808CNV Complex16826518

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604511    OMIM disorders: --

    7 diseases for CBX1:    About MalaCards
    mandibuloacral dysplasia    williams syndrome    ovarian cancer    melanoma
    prostate cancer    prostatitis    leukemia


    CBX1 for disorders           About GeneDecksing


    Export disorders for CBX1 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 CBX1 gene, integrated from 9 sources (see all 125):
    (articles sorted by number of sources associating them with CBX1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Heterochromatin protein HP1Hsbeta (p25beta) and its localization with centromeres in mitosis. (PubMed id 9169582)1, 2, 3, 9 Furuta K....Tan E.M. (1997)
    2. Binding of EMSY to HP1beta: implications for recruitment of HP1beta and BS69. (PubMed id 15947784)1, 2, 9 Ekblad C.M.S.... Itzhaki L.S. (2005)
    3. Localization and phosphorylation of HP1 proteins during the cell cycle in mammalian cells. (PubMed id 10460410)1, 2, 9 Minc E.... Buendia B. (1999)
    4. In vivo HP1 targeting causes large-scale chromatin condensation and enhanced histone lysine methylation. (PubMed id 15899859)1, 2, 9 Verschure P.J.... van Driel R. (2005)
    5. Human POGZ modulates dissociation of HP1alpha from mi totic chromosome arms through Aurora B activation. (PubMed id 20562864)1, 2 Nozawa R.S....Obuse C. (2010)
    6. Lamin A rod domain mutants target heterochromatin protein 1alpha and beta for proteasomal degradation by activation of F-box protein, FBXW10. (PubMed id 20498703)1, 2 Chaturvedi P. and Parnaik V.K. (2010)
    7. Crystal structure of the HP1-EMSY complex reveals an unusual mode of HP1 binding. (PubMed id 16615912)1, 2 Huang Y.... Xu R.-M. (2006)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer. (PubMed id 14651845)1, 2 Hughes-Davies L.... Kouzarides T. (2003)
    10. Functional mammalian homologues of the Drosophila PEV-modifier Su(var)3-9 encode centromere-associated proteins which complex with the heterochromatin component M31. (PubMed id 10202156)1, 2 Aagaard L....Jenuwein T. (1999)

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

      Query String
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    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: 10951 HGNC: 1551 AceView: CBX1 Ensembl:ENSG00000108468 euGenes: HUgn10951
    ECgene: CBX1 H-InvDB: CBX1

    (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 CBX1 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Heterochromatin_Protein_1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CBX1 gene:
    Search GeneIP for patents involving CBX1

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



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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