Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
63035
Gene name Gene Name - the full gene name approved by the HGNC.
BCL6 corepressor like 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BCORL1
Synonyms (NCBI Gene) Gene synonyms aliases
BCoR-L1, CXorf10, SHUVER
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SHUVER
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq26.1
Summary Summary of gene provided in NCBI Entrez 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 trans
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs398123004 A>G Pathogenic Missense variant, coding sequence variant
rs1057521638 C>T Pathogenic, uncertain-significance Missense variant, coding sequence variant
rs1488781894 T>A Pathogenic Missense variant, coding sequence variant
rs1603105985 C>T Pathogenic Coding sequence variant, 5 prime UTR variant, missense variant
rs1603113792 C>T Likely-pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020688 hsa-miR-155-5p Other 20584899
MIRT026121 hsa-miR-192-5p Microarray 19074876
MIRT052199 hsa-let-7b-5p CLASH 23622248
MIRT048203 hsa-miR-196a-5p CLASH 23622248
MIRT036752 hsa-miR-760 CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005654 Component Nucleoplasm IDA
GO:0005886 Component Plasma membrane IDA
GO:0006325 Process Chromatin organization IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300688 25657 ENSG00000085185
Protein
UniProt ID Q5H9F3
Protein name BCL-6 corepressor-like protein 1 (BCoR-L1) (BCoR-like protein 1)
Protein 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 w
PDB 4HPM , 5JH5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15808 BCOR 1221 1464 BCL-6 co-repressor, non-ankyrin-repeat region Family
PF12796 Ank_2 1425 1519 Ankyrin repeats (3 copies) Repeat
PF16553 PUFD 1593 1710 BCORL-PCGF1-binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in testis and prostate. Detected at lower levels in peripheral blood leukocytes and spleen. Mainly expressed in the spermatogonia and primary spermatocytes (PubMed:38342987). {ECO:0000269|PubMed:17379597, ECO:0000269|PubMed:38
Sequence
MISTAPLYSGVHNWTSSDRIRMCGINEERRAPLSDEESTTGDCQHFGSQEFCVSSSFSKV
ELTAVGSGSNARGADPDGSATEKLGHKSEDKPDDPQPKMDYAGNVAEAEGFLVPLSSPGD
GLKLPASDSAEASNSRADCSWTPLNTQMSKQVDCSPAGVKALDSRQGVGEKNTFILATLG
TGVPVEGTLPLVTTNFSPLPAPICPPAPGSASVPHSVPDAFQVPLSVPAPVPHSGLVPVQ
VATSVPAPSPPLAPVPALAPAPPSVPTLISDSNPLSVSASVLVPVPASAPPSGPVPLSAP
APAPLSVPVSAPPLALIQAPVPPSAPTLVLAPVPTPVLAPMPASTPPAAPAPPSVPMPTP
TPSSGPPSTPTLIPAFAPTPVPAPTPAPIFTPAPTPMPAATPAAIPTSAPIPASFSLSRV
CFPAAQAPAMQKVPLSFQPGTVLTPSQPLVYIPPPSCGQPLSVATLPTTLGVSSTLTLPV
LPSYLQDRCLPGVLASPELRSYPYAFSVARPLTSDSKLVSLEVNRLPCTSPSGSTTTQPA
PDGVPGPLADTSLVTASAKVLPTPQPLLPAPSGSSAPPHPAKMPSGTEQQTEGTSVTFSP
LKSPPQLEREMASPPECSEMPLDLSSKSNRQKLPLPNQRKTPPMPVLTPVHTSSKALLST
VLSRSQRTTQAAGGNVTSCLGSTSSPFVIFPEIVRNGDPSTWVKNSTALISTIPGTYVGV
ANPVPASLLLNKDPNLGLNRDPRHLPKQEPISIIDQGEPKGTGATCGKKGSQAGAEGQPS
TVKRYTPARIAPGLPGCQTKELSLWKPTGPANIYPRCSVNGKPTSTQVLPVGWSPYHQAS
LLSIGISSAGQLTPSQGAPIRPTSVVSEFSGVPSLSSSEAVHGLPEGQPRPGGSFVPEQD
PVTKNKTCRIAAKPYEEQVNPVLLTLSPQTGTLALSVQPSGGDIRMNQGPEESESHLCSD
STPKMEGPQGACGLKLAGDTKPKNQVLATYMSHELVLATPQNLPKMPELPLLPHDSHPKE
LILDVVPSSRRGSSTERPQLGSQVDLGRVKMEKVDGDVVFNLATCFRADGLPVAPQRGQA
EVRAKAGQARVKQESVGVFACKNKWQPDDVTESLPPKKMKCGKEKDSEEQQLQPQAKAVV
RSSHRPKCRKLPSDPQESTKKSPRGASDSGKEHNGVRGKHKHRKPTKPESQSPGKRADSH
EEGSLEKKAKSSFRDFIPVVLSTRTRSQSGSICSSFAGMADSDMGSQEVFPTEEEEEVTP
TPAKRRKVRKTQRDTQYRSHHAQDKSLLSQGRRHLWRAREMPWRTEAARQMWDTNEEEEE
EEEEGLLKRKKRRRQKSRKYQTGEYLTEQEDEQRRKGRADLKARKQKTSSSQSLEHRLRN
RNLLLPNKVQGISDSPNGFLPNNLEEPACLENSEKPSGKRKCKT
KHMATVSEEAKDVVLY
CLQKDSEDVNHRDNAGYTALHEAC
SRGWTDILNILLEHGANVNCSAQDGTRPVHDAVVND
NLETIWLLLSYGADPTLAT
YSGQTAMKLASSDTMKRFLSDHLSDLQGRAEGDPGVSWDFY
SSSVLEEKDGFACDLLHNPPGSSDQEGDDPMEEDDFMFELSDKPLLPCYNLQVSVSRGPC
NWFLFSDVLKRLKLSSRIFQARFPHFEITTMPKAEFYRQVASSQLLTPAERPGGLDDRSP
PGSSETVELVRYEPDLLRLLGSEVEFQSCN
S
Sequence length 1711
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Polycomb repressive complex  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Adenocarcinoma Adenoid Cystic Carcinoma rs121913530, rs886039394, rs121913474 23685749
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs786205019
Autism Autistic behavior rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Unknown
Disease term Disease name Evidence References Source
Mental retardation syndromic intellectual disability GenCC
Associations from Text Mining
Disease Name Relationship Type References
Acute erythroleukemia Associate 35967966
Adenosarcoma Associate 36639698
Adenosarcoma of the uterus Associate 36639698
Agenesis of Corpus Callosum Associate 34400773
Anemia Aplastic Associate 26132940, 36499545
Astrocytoma Associate 30051528
Breast Neoplasms Associate 17697391
Carcinoma Associate 30051528, 34302054
Carcinoma Hepatocellular Associate 26879601
Carcinoma Non Small Cell Lung Associate 33629637