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

BCORL1 Gene

protein-coding   GIFtS: 48
GCID: GC0XP129115

BCL6 Corepressor-Like 1

(Previous names: chromosome X open reading frame 10, BCL6 co-repressor-like...)
(Previous symbol: CXorf10)
  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
BCL6 Corepressor-Like 11 2     BCL6 Co-Repressor-Like 11
CXorf101 2     Chromosome X Open Reading Frame 101
BCoR-L12 3     BCL-6 Corepressor-Like Protein 12
BCoR-Like Protein 12 3     

External Ids:    HGNC: 256571   Entrez Gene: 630352   Ensembl: ENSG000000851857   OMIM: 3006885   UniProtKB: Q5H9F33   

Export aliases for BCORL1 gene to outside databases

Previous GC identifers: GC0XP128842 GC0XP128944 GC0XP118537


(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 BCORL1 Gene:
The protein encoded by this gene is a transcriptional corepressor that is found tethered to promoter regions by
DNA-binding proteins. The encoded protein can interact with several different class II histone deacetylases to
repress transcription. Two transcript variants encoding different isoforms have been found for this gene.
(provided by RefSeq, May 2010)

GeneCards Summary for BCORL1 Gene: 
BCORL1 (BCL6 corepressor-like 1) is a protein-coding gene. Diseases associated with BCORL1 include male breast cancer, and breast cancer. An important paralog of this gene is BARD1.

UniProtKB/Swiss-Prot: BCORL_HUMAN, Q5H9F3
Function: Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions
by sequence specific DNA-binding proteins such as BCL6. This repression may be mediated at least in part by
histone deacetylase activities which can associate with this corepressor




(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_000023.10  NT_011786.16  NC_018934.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BCORL1 gene promoter:
         POU2F1   POU2F1a   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): BCORL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for BCORL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BCORL1


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

Entrez Gene cytogenetic band: Xq25-q26.1   Ensembl cytogenetic band:  Xq26.1   HGNC cytogenetic band: Xq25-q26.1

BCORL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BCORL1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP129115:  view genomic region     (about GC identifiers)

Start:
129,115,083 bp from pter      End:
129,192,058 bp from pter
Size:
76,976 bases      Orientation:
plus 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: BCORL_HUMAN, Q5H9F3 (See protein sequence)
Recommended Name: BCL-6 corepressor-like protein 1  
Size: 1711 amino acids; 182526 Da
Subunit: Interacts with CTBP1. Interacts with HDAC4, HDAC5 and HDAC7
Subcellular location: Nucleus
Sequence caution: Sequence=BAC85922.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for BCORL1:
4HPM (3D)    
Secondary accessions: B5MDQ8 Q5H9F2 Q5H9F4 Q6ZVE0 Q8TEN3 Q9Y528
Alternative splicing: 3 isoforms:  Q5H9F3-1   Q5H9F3-2   Q5H9F3-3   (Contains a phosphoserine at position 1476)

Explore the universe of human proteins at neXtProt for BCORL1: NX_Q5H9F3

Explore proteomics data for BCORL1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5H9F3

  • BCORL1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BCORL1 Protein Expression
    REFSEQ proteins: NP_068765.3  
    ENSEMBL proteins: 
     ENSP00000218147   ENSP00000399483   ENSP00000416520   ENSP00000307541   ENSP00000352253  
     ENSP00000437775  

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    Cloud-Clone Corp. Proteins for BCORL1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005886plasma membrane IDA--

    BCORL1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ANKRD: Ankyrin repeat domain containing

    2 InterPro protein domains:
     IPR020683 Ankyrin_rpt-contain_dom
     IPR002110 Ankyrin_rpt

    Graphical View of Domain Structure for InterPro Entry Q5H9F3

    ProtoNet protein and cluster: Q5H9F3

    UniProtKB/Swiss-Prot: BCORL_HUMAN, Q5H9F3
    Similarity: Belongs to the BCOR family
    Similarity: Contains 3 ANK repeats


    BCORL1 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: BCORL_HUMAN, Q5H9F3
    Function: Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions
    by sequence specific DNA-binding proteins such as BCL6. This repression may be mediated at least in part by
    histone deacetylase activities which can associate with this corepressor

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    BCORL1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for BCORL1:
     Synthetic lethal with Ras 

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidBCORL1 3' UTR sequence
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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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BCORL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/12 Interacting proteins for BCORL1 (Q5H9F33 ENSP000002181474) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HDAC4P565243, ENSP000002646064I2D: score=1 STRING: ENSP00000264606
    HDAC7Q8WUI43, ENSP000000800594I2D: score=1 STRING: ENSP00000080059
    CTBP1Q133633, ENSP000002909214I2D: score=1 STRING: ENSP00000290921
    HDAC5Q9UQL63, ENSP000002259834I2D: score=1 STRING: ENSP00000225983
    SUMO2ENSP000004059654STRING: ENSP00000405965
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0016568chromatin modification IEA--

    BCORL1 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BCORL1 (BCORL)

    Search CenterWatch for drugs/clinical trials and news about BCORL1 / BCORL

    (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 BCORL1 gene (2 alternative transcripts): 
    NM_021946.4  NM_001184772.1  

    Unigene Cluster for BCORL1:

    BCL6 corepressor-like 1
    Hs.496748  [show with all ESTs]
    Unigene Representative Sequence: NM_021946
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000488135 ENST00000218147 ENST00000456822 ENST00000441294 ENST00000303743
    ENST00000359304(uc010nrd.1) ENST00000540052(uc022cdu.1 uc004evc.2)

    miRNA
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    8/64 QIAGEN miScript miRNA Assays for microRNAs that regulate BCORL1 (see all 64):
    hsa-miR-361-5p hsa-miR-146a hsa-miR-128 hsa-miR-219-5p hsa-miR-578 hsa-miR-371-5p hsa-miR-3161 hsa-miR-629*
    SwitchGear 3'UTR luciferase reporter plasmidBCORL1 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BCORL1

    Additional mRNA sequence: 

    AK021424.1 AK074089.1 AK124676.1 AL096777.1 BC044652.1 

    7 DOTS entries:

    DT.454704  DT.100747170  DT.121288669  DT.100704250  DT.100747169  DT.121288646  DT.97841754 

    24/90 AceView cDNA sequences (see all 90):

    AK074089 AL096777 BM457842 BQ007466 CR621400 CD671907 R53772 NM_021946 
    BX107682 BU620363 AK124676 BQ707930 CD369739 CD630956 BM973587 BF765194 
    BM930296 BQ719887 BQ011054 BI031136 BM683765 AK021424 BQ011735 AI917324 

    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

    BCORL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    BCORL1 Expression
    About this image


    See BCORL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BCORL1

    SOURCE GeneReport for Unigene cluster: Hs.496748

    UniProtKB/Swiss-Prot: BCORL_HUMAN, Q5H9F3
    Tissue specificity: Detected in testis and prostate. Detected at lower levels in peripheral blood leukocytes and
    spleen

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCORL1

    (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 BCORL1 gene from 6/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bcorl11 , 5 BCL6 co-repressor-like 11, 5 87.34(n)1
    89.77(a)1
      X (25.64 cM)5
    3203761  NM_178782.41  NP_848897.31 
     483413585 
    chicken
    (Gallus gallus)
    Aves BCORL11 BCL6 corepressor-like 1 64.27(n)
    57.91(a)
      428687  XM_426245.3  XP_426245.3 
    lizard
    (Anolis carolinensis)
    Reptilia BCORL16
    Uncharacterized protein
    48(a)
    1 ↔ 1
    GL343451.1(363697-378696)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.129342 Xenopus laevis transcribed sequence with weak similarity more 75.1(n)    BJ068266.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CU459160.26
    Uncharacterized protein
    24(a)
    1 ↔ 1
    14(42947365-42971647)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG140736
    --
    6(a)
    1 → many
    3L(18795365-18813775)


    ENSEMBL Gene Tree for BCORL1 (if available)
    TreeFam Gene Tree for BCORL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BCORL1 gene
    BARD12  ANKRD112  BCOR2  TONSL2  ANKRD322  ANKRD122  ANKRD312  
    5 SIMAP similar genes for BCORL1 using alignment to 4 protein entries:     BCORL_HUMAN (see all proteins):
    BCOR    BCOR-RARA    DKFZp761E1322    MTPN    PPP1R12A

    BCORL1 for paralogs           About GeneDecksing



    (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

    10/817 SNPs in BCORL1 are shown (see all 817)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0374684
    A breast cancer sample4--see VAR_0374682 G D mis40--------
    VAR_0610204
    ----see VAR_0610202 F L mis40--------
    rs596602301,2
    C--129093106(+) TTCTT-/CT/CTTCTTCT/
    CTTCTTCTTT
    /CTTT
    TTTTT
    1 -- us2k10--------
    rs1387491421,2
    --129093164(+) ATGGCA/GTGGTA 1 -- us2k10--------
    rs561762241,2
    C,F--129093177(+) AGCTCA/GCCGCA 1 -- us2k11Minor allele frequency- G:0.00WA 2
    rs1864245811,2
    --129093364(+) CCAAAA/GTGCTG 1 -- us2k10--------
    rs1473965071,2
    C--129093498(+) CCTGGA/GATGTA 1 -- us2k10--------
    rs1484585711,2
    --129093511(+) CTCCAC/TACGGG 1 -- us2k10--------
    rs736339411,2
    C,F--129093665(+) CCCTCA/GTACAA 1 -- us2k11Minor allele frequency- G:0.00WA 2
    rs1829204241,2
    --129093842(+) TGCCTC/TATTTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for BCORL1 (129115083 - 129192058 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for BCORL1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv7090CNV Loss18451855
    nsv528290CNV Gain19592680


    Human Gene Mutation Database (HGMD): BCORL1

    Locus Specific Mutation Databases (LSDB): BCORL1
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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: 300688    OMIM disorders: --

    4 diseases for BCORL1:    About MalaCards
    male breast cancer    breast cancer    leukemia    prostatitis


    BCORL1 for disorders           About GeneDecksing


    Export disorders for BCORL1 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 BCORL1 gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with BCORL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel corepressor, BCoR-L1, represses transcription through an interaction with CtBP. (PubMed id 17379597)1, 2 Pagan J.K.... Khanna K.K. (2007)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. GWAS of dental caries patterns in the permanent dentit ion. (PubMed id 23064961)1 Shaffer J.R....Marazita M.L. (2013)
    4. Structure of the polycomb group protein PCGF1 in compl ex with BCOR reveals basis for binding selectivity of PCGF homologs. (PubMed id 23523425)1 Junco S.E....Kim C.A. (2013)
    5. PCGF homologs, CBX proteins, and RYBP define functiona lly distinct PRC1 family complexes. (PubMed id 22325352)1 Gao Z....Reinberg D. (2012)
    6. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    7. Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)1 Lin Y.Y....Boeke J.D. (2012)
    8. Somatic mutations in the transcriptional corepressor gene BCORL1 in adult acute myelogenous leukemia. (PubMed id 21989985)1 Li M....Malek S.N. (2011)
    9. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 63035 HGNC: 25657 AceView: BCORL1 Ensembl:ENSG00000085185 euGenes: HUgn63035
    ECgene: BCORL1 H-InvDB: BCORL1

    (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 BCORL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BCORL1 gene:
    Search GeneIP for patents involving BCORL1

    GeneCards and IP:
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