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] See more...

Aliases for BCORL1 Gene

Aliases for BCORL1 Gene

  • BCL6 Corepressor Like 1 2 3 5
  • BCL-6 Corepressor-Like Protein 1 3 4
  • BCoR-Like Protein 1 3 4
  • BCoR-L1 3 4
  • Chromosome X Open Reading Frame 10 2
  • BCL6 Co-Repressor-Like 1 2
  • FLJ11362 2
  • CXorf10 3
  • SHUVER 3
  • BCORL1 5

External Ids for BCORL1 Gene

Previous HGNC Symbols for BCORL1 Gene

  • CXorf10

Previous GeneCards Identifiers for BCORL1 Gene

  • GC0XP128842
  • GC0XP128944
  • GC0XP129115
  • GC0XP118537

Summaries for BCORL1 Gene

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 Shukla-Vernon Syndrome and Non-Specific Syndromic Intellectual Disability. Among its related pathways are Pathways Affected in Adenoid Cystic Carcinoma and Mesodermal Commitment Pathway. An important paralog of this gene is BCOR.

UniProtKB/Swiss-Prot Summary for BCORL1 Gene

  • 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.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BCORL1 Gene

Genomics for BCORL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BCORL1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BCORL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BCORL1

Top Transcription factor binding sites by QIAGEN in the BCORL1 gene promoter:
  • GATA-1
  • POU2F1
  • POU2F1a

Genomic Locations for BCORL1 Gene

Latest Assembly
chrX:129,980,285-130,058,081
(GRCh38/hg38)
Size:
77,797 bases
Orientation:
Plus strand

Previous Assembly
chrX:129,114,955-129,192,046
(GRCh37/hg19 by Entrez Gene)
Size:
77,092 bases
Orientation:
Plus strand

chrX:129,115,083-129,192,058
(GRCh37/hg19 by Ensembl)
Size:
76,976 bases
Orientation:
Plus strand

Genomic View for BCORL1 Gene

Genes around BCORL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCORL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BCORL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCORL1 Gene

Proteins for BCORL1 Gene

  • Protein details for BCORL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5H9F3-BCORL_HUMAN
    Recommended name:
    BCL-6 corepressor-like protein 1
    Protein Accession:
    Q5H9F3
    Secondary Accessions:
    • B5MDQ8
    • Q5H9F2
    • Q5H9F4
    • Q6ZVE0
    • Q8TEN3
    • Q9Y528

    Protein attributes for BCORL1 Gene

    Size:
    1711 amino acids
    Molecular mass:
    182526 Da
    Quaternary structure:
    • Interacts with PCGF1, forming heterodimers (PubMed:23523425, PubMed:27568929). The PCGF1-BCORL1 heterodimeric complex interacts with the KDM2B-SKP1 heterodimeric complex to form a homotetrameric polycomb repression complex 1 (PRC1.1) (PubMed:27568929). Interacts with CTBP1, HDAC4, HDAC5 and HDAC7 (PubMed:17379597).
    SequenceCaution:
    • Sequence=BAC85922.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BCORL1 Gene

    Alternative splice isoforms for BCORL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BCORL1 Gene

Post-translational modifications for BCORL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BCORL1 Gene

Domains & Families for BCORL1 Gene

Gene Families for BCORL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for BCORL1 Gene

GenScript: Design optimal peptide antigens:
  • BCL-6 corepressor-like protein 1 (BCORL_HUMAN)
  • BCORL1 protein (Q86YA6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5H9F3

UniProtKB/Swiss-Prot:

BCORL_HUMAN :
  • Belongs to the BCOR family.
Family:
  • Belongs to the BCOR family.
genes like me logo Genes that share domains with BCORL1: view

Function for BCORL1 Gene

Molecular function for BCORL1 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for BCORL1 Gene

Gene Ontology (GO) - Molecular Function for BCORL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with BCORL1: view
genes like me logo Genes that share phenotypes with BCORL1: view

Human Phenotype Ontology for BCORL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCORL1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for BCORL1 Gene

Localization for BCORL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCORL1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BCORL1 gene
Compartment Confidence
nucleus 5
plasma membrane 4
cytosol 3
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BCORL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with BCORL1: view

Pathways & Interactions for BCORL1 Gene

genes like me logo Genes that share pathways with BCORL1: view

Pathways by source for BCORL1 Gene

SIGNOR curated interactions for BCORL1 Gene

Activates:

Gene Ontology (GO) - Biological Process for BCORL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IEA --
genes like me logo Genes that share ontologies with BCORL1: view

Drugs & Compounds for BCORL1 Gene

No Compound Related Data Available

Transcripts for BCORL1 Gene

mRNA/cDNA for BCORL1 Gene

4 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCORL1

Alternative Splicing Database (ASD) splice patterns (SP) for BCORL1 Gene

No ASD Table

Relevant External Links for BCORL1 Gene

GeneLoc Exon Structure for
BCORL1

Expression for BCORL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BCORL1 Gene

Protein differential expression in normal tissues from HIPED for BCORL1 Gene

This gene is overexpressed in Bone (41.5), Platelet (12.2), Fetal heart (9.0), and Placenta (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BCORL1 Gene



Protein tissue co-expression partners for BCORL1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BCORL1

SOURCE GeneReport for Unigene cluster for BCORL1 Gene:

Hs.496748

mRNA Expression by UniProt/SwissProt for BCORL1 Gene:

Q5H9F3-BCORL_HUMAN
Tissue specificity: Detected in testis and prostate. Detected at lower levels in peripheral blood leukocytes and spleen.

Evidence on tissue expression from TISSUES for BCORL1 Gene

  • Nervous system(4.3)
  • Liver(4.2)
  • Spleen(4.2)
genes like me logo Genes that share expression patterns with BCORL1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for BCORL1 Gene

Orthologs for BCORL1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for BCORL1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia BCORL1 29
  • 91.09 (n)
Dog
(Canis familiaris)
Mammalia BCORL1 29 30
  • 90.61 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BCORL1 29 30
  • 88.65 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Bcorl1 29
  • 86.82 (n)
Mouse
(Mus musculus)
Mammalia Bcorl1 29 16 30
  • 86.79 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia BCORL1 30
  • 61 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia BCORL1 30
  • 58 (a)
OneToOne
Chicken
(Gallus gallus)
Aves BCORL1 29 30
  • 66.82 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BCORL1 30
  • 50 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia bcorl1 29
  • 55.83 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12934 29
Zebrafish
(Danio rerio)
Actinopterygii CU459160.2 30
  • 27 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG14073 30
  • 12 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HOS4 30
  • 11 (a)
OneToMany
Species where no ortholog for BCORL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for BCORL1 Gene

ENSEMBL:
Gene Tree for BCORL1 (if available)
TreeFam:
Gene Tree for BCORL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BCORL1: view image
Alliance of Genome Resources:
Additional Orthologs for BCORL1

Paralogs for BCORL1 Gene

Paralogs for BCORL1 Gene

(5) SIMAP similar genes for BCORL1 Gene using alignment to 5 proteins:

  • BCORL_HUMAN
  • H7C4B2_HUMAN
  • L8EB38_HUMAN
  • Q86YA6_HUMAN
  • V9GYD4_HUMAN
genes like me logo Genes that share paralogs with BCORL1: view

Variants for BCORL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BCORL1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
1004155 Uncertain Significance: not provided 130,014,283(+) A/G
NM_001379451.1(BCORL1):c.1511A>G (p.Tyr504Cys)
MISSENSE
1028230 Uncertain Significance: Shukla-Vernon syndrome 130,013,827(+) C/G
NM_001379451.1(BCORL1):c.1055C>G (p.Pro352Arg)
MISSENSE
1028231 Uncertain Significance: Shukla-Vernon syndrome 130,014,030(+) G/A
NM_001379451.1(BCORL1):c.1258G>A (p.Val420Met)
MISSENSE
871642 Uncertain Significance: not provided 130,015,320(+) G/A
NM_001379451.1(BCORL1):c.2548G>A (p.Gly850Arg)
MISSENSE
871643 Uncertain Significance: not provided 130,025,088(+) G/A
NM_001379451.1(BCORL1):c.3787G>A (p.Ala1263Thr)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BCORL1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for BCORL1 Gene

Variant ID Type Subtype PubMed ID
esv3574556 CNV loss 25503493
nsv528290 CNV gain 19592680
nsv7090 CNV deletion 18451855

Variation tolerance for BCORL1 Gene

Residual Variation Intolerance Score: 32.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.11; 51.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BCORL1 Gene

Human Gene Mutation Database (HGMD)
BCORL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BCORL1
Leiden Open Variation Database (LOVD)
BCORL1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BCORL1 Gene

Disorders for BCORL1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for BCORL1 Gene - From: OMI, CVR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
shukla-vernon syndrome
  • shuver
non-specific syndromic intellectual disability
  • complex neurodevelopmental disorder
acquired pure red cell aplasia
  • acquired prca
plasma cell neoplasm
  • plasma cell dyscrasia
pure red-cell aplasia
  • primary red cell aplasia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

BCORL_HUMAN
  • Shukla-Vernon syndrome (SHUVER) [MIM:301029]: An X-linked neurodevelopmental disorder manifesting in affected males with intellectual and learning disability, motor and language delay, autism spectrum disorder, attention deficit and hyperactivity disorder, and dysmorphic features. Some patients may have seizures and/or cerebellar atrophy on brain imaging. Carrier females may have mild disease manifestations. {ECO:0000269 PubMed:24123876, ECO:0000269 PubMed:30941876}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Additional Disease Information for BCORL1

genes like me logo Genes that share disorders with BCORL1: view

No data available for Genatlas for BCORL1 Gene

Publications for BCORL1 Gene

  1. Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities. (PMID: 30941876) Shukla A … Vernon HJ (American journal of medical genetics. Part A 2019) 3 4 72
  2. KDM2B Recruitment of the Polycomb Group Complex, PRC1.1, Requires Cooperation between PCGF1 and BCORL1. (PMID: 27568929) Wong SJ … Kim CA (Structure (London, England : 1993) 2016) 3 4
  3. Structure of the polycomb group protein PCGF1 in complex with BCOR reveals basis for binding selectivity of PCGF homologs. (PMID: 23523425) Junco SE … Kim CA (Structure (London, England : 1993) 2013) 3 4
  4. A novel corepressor, BCoR-L1, represses transcription through an interaction with CtBP. (PMID: 17379597) Pagan JK … Khanna KK (The Journal of biological chemistry 2007) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for BCORL1 Gene

Sources for BCORL1 Gene