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BCORL1 BCL6 corepressor like 1 [ Homo sapiens (human) ]

Gene ID: 63035, updated on 12-Oct-2019

Summary

Official Symbol
BCORL1provided by HGNC
Official Full Name
BCL6 corepressor like 1provided by HGNC
Primary source
HGNC:HGNC:25657
See related
Ensembl:ENSG00000085185 MIM:300688
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SHUVER; BCoR-L1; CXorf10
Summary
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]
Expression
Broad expression in placenta (RPKM 4.2), testis (RPKM 3.4) and 25 other tissues See more
Orthologs

Genomic context

See BCORL1 in Genome Data Viewer
Location:
Xq26.1
Exon count:
20
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (129980285..130058083)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (129114277..129192058)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene spalt like transcription factor 4 pseudogene 2 Neighboring gene uncharacterized LOC105373335 Neighboring gene UTP14A small subunit processome component Neighboring gene E74 like ETS transcription factor 4 Neighboring gene RAB33A, member RAS oncogene family Neighboring gene apoptosis inducing factor mitochondria associated 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
SHUKLA-VERNON SYNDROME
MedGen: CN261159 OMIM: 301029 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Genome-wide association study of chronic periodontitis in a general German population.
NHGRI GWA Catalog
GWAS of dental caries patterns in the permanent dentition.
NHGRI GWA Catalog

Pathways from BioSystems

  • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
  • Mesodermal Commitment Pathway, organism-specific biosystem (from WikiPathways)
    Mesodermal Commitment Pathway, organism-specific biosystemModel depicting mesodermal specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell l...
  • Pathways Affected in Adenoid Cystic Carcinoma, organism-specific biosystem (from WikiPathways)
    Pathways Affected in Adenoid Cystic Carcinoma, organism-specific biosystemProtein pathways altered by mutations in adenoid cystic carcinoma. Pathways include epigentic modification, DNA damage checkpoint signals, MYB/MYC signalling pathway, FGF/IGF/PI3K signalling, and not...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11362, FLJ11632

Gene Ontology Provided by GOA

Process Evidence Code Pubs
chromatin organization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
BCL-6 corepressor-like protein 1
Names
BCoR-like protein 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_021274.1 RefSeqGene

    Range
    27496..80390
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_628

mRNA and Protein(s)

  1. NM_001184772.2NP_001171701.1  BCL-6 corepressor-like protein 1 isoform 1a

    See identical proteins and their annotated locations for NP_001171701.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1a) represents the longer transcript and encodes the longer isoform (1a)
    Source sequence(s)
    AL136450, KF459400, Z82208
    Conserved Domains (4) summary
    cd00204
    Location:14901604
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd14260
    Location:16661779
    PUFD_like_1; PCGF Ub-like fold discriminator of BCOR-like 1
    pfam12796
    Location:15001591
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:14961527
    ANK; ANK repeat [structural motif]
  2. NM_021946.4NP_068765.3  BCL-6 corepressor-like protein 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an alternate in-frame exon compared to isoform 1a. The resulting isoform (1) has the same N- and C-termini but is shorter compared to isoform 1a.
    Source sequence(s)
    AK074089, AL136450, BE244710
    Consensus CDS
    CCDS14616.1
    UniProtKB/Swiss-Prot
    Q5H9F3
    Related
    ENSP00000437775.1, ENST00000540052.5
    Conserved Domains (4) summary
    cd00204
    Location:14261530
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd14260
    Location:15921705
    PUFD_like_1; PCGF Ub-like fold discriminator of BCOR-like 1
    pfam12796
    Location:14261517
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:14551486
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    129980285..130058083
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005262453.4XP_005262510.2  BCL-6 corepressor-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005262510.2

    Conserved Domains (4) summary
    cd00204
    Location:14901604
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd14260
    Location:16661779
    PUFD_like_1; PCGF Ub-like fold discriminator of BCOR-like 1
    pfam12796
    Location:15001591
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:14961527
    ANK; ANK repeat [structural motif]
  2. XM_006724777.3XP_006724840.1  BCL-6 corepressor-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006724840.1

    Conserved Domains (4) summary
    cd00204
    Location:14901604
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd14260
    Location:16661779
    PUFD_like_1; PCGF Ub-like fold discriminator of BCOR-like 1
    pfam12796
    Location:15001591
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:14961527
    ANK; ANK repeat [structural motif]
  3. XM_017029721.1XP_016885210.1  BCL-6 corepressor-like protein 1 isoform X1

    Conserved Domains (4) summary
    cd00204
    Location:14901604
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd14260
    Location:16661779
    PUFD_like_1; PCGF Ub-like fold discriminator of BCOR-like 1
    pfam12796
    Location:15001591
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:14961527
    ANK; ANK repeat [structural motif]
  4. XM_005262452.4XP_005262509.2  BCL-6 corepressor-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005262509.2

    Conserved Domains (4) summary
    cd00204
    Location:14901604
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd14260
    Location:16661779
    PUFD_like_1; PCGF Ub-like fold discriminator of BCOR-like 1
    pfam12796
    Location:15001591
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:14961527
    ANK; ANK repeat [structural motif]
  5. XM_005262456.4XP_005262513.2  BCL-6 corepressor-like protein 1 isoform X3

    Conserved Domains (5) summary
    cd00204
    Location:13601474
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd14260
    Location:15361649
    PUFD_like_1; PCGF Ub-like fold discriminator of BCOR-like 1
    pfam12796
    Location:13701461
    Ank_2; Ankyrin repeats (3 copies)
    pfam15808
    Location:11841297
    BCOR; BCL-6 co-repressor, non-ankyrin-repeat region
    sd00045
    Location:13661397
    ANK; ANK repeat [structural motif]
  6. XM_006724776.3XP_006724839.1  BCL-6 corepressor-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006724839.1

    Conserved Domains (4) summary
    cd00204
    Location:14901604
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd14260
    Location:16661779
    PUFD_like_1; PCGF Ub-like fold discriminator of BCOR-like 1
    pfam12796
    Location:15001591
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:14961527
    ANK; ANK repeat [structural motif]
  7. XM_006724779.2XP_006724842.1  BCL-6 corepressor-like protein 1 isoform X2

    Related
    ENSP00000399483.1, ENST00000456822.5
    Conserved Domains (4) summary
    cd00204
    Location:13921506
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd14260
    Location:15681681
    PUFD_like_1; PCGF Ub-like fold discriminator of BCOR-like 1
    pfam12796
    Location:14021493
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:13981429
    ANK; ANK repeat [structural motif]
  8. XM_005262454.3XP_005262511.2  BCL-6 corepressor-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005262511.2

    Conserved Domains (4) summary
    cd00204
    Location:14901604
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd14260
    Location:16661779
    PUFD_like_1; PCGF Ub-like fold discriminator of BCOR-like 1
    pfam12796
    Location:15001591
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:14961527
    ANK; ANK repeat [structural motif]
  9. XM_005262455.4XP_005262512.2  BCL-6 corepressor-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005262512.2

    Conserved Domains (4) summary
    cd00204
    Location:14901604
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd14260
    Location:16661779
    PUFD_like_1; PCGF Ub-like fold discriminator of BCOR-like 1
    pfam12796
    Location:15001591
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:14961527
    ANK; ANK repeat [structural motif]
  10. XM_017029722.1XP_016885211.1  BCL-6 corepressor-like protein 1 isoform X1

    Conserved Domains (4) summary
    cd00204
    Location:14901604
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd14260
    Location:16661779
    PUFD_like_1; PCGF Ub-like fold discriminator of BCOR-like 1
    pfam12796
    Location:15001591
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:14961527
    ANK; ANK repeat [structural motif]
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