BCORL1
entrez
63035
canonical
uniprot
Q5H9F3
canonical
ensembl
ENSG00000085185
resolver
ensp
ENSP00000218147
resolver
ensp
ENSP00000437775
resolver
genesymbol
BCORL1
resolver
hgnc
HGNC:25657
resolver
uniprot
B5MDQ8
resolver
uniprot
Q5H9F2
resolver
uniprot
Q5H9F4
resolver
uniprot
Q6ZVE0
resolver
uniprot
Q8TEN3
resolver
uniprot
Q9Y528
resolver
uniprot_entry
BCORL_HUMAN
resolver
uniprot_sec
B5MDQ8
resolver
uniprot_sec
Q5H9F2
resolver
uniprot_sec
Q5H9F4
resolver
uniprot_sec
Q6ZVE0
resolver
uniprot_sec
Q8TEN3
resolver
uniprot_sec
Q9Y528
resolver
amino_acid_sequence
MISTAPLYSGVHNWTSSDRIRMCGINEERRAPLSDEESTTGDCQHFGSQEFCVSSSFSKVELTAVGSGSNARGADPDGSATEKLGHKSEDKPDDPQPKMDYAGNVAEAEGLLVPLSSPGDGLKLPASDSAEASNSRADCSWTPLNTQMSKQVDCSPAGVKALDSRQGVGEKNTFILATLGTGVPVEGTLPLVTTNFSPLPAPICPPAPGSASVPHSVPDAFQVPLSVPAPVPHSGLVPVQVATSVPAPSPPLAPVPALAPAPPSVPTLISDSNPLSVSASVLVPVPASAPPSGPVPLSAPAPAPLSVPVSAPPLALIQAPVPPSAPTLVLAPVPTPVLAPMPASTPPAAPAPPSVPMPTPTPSSGPPSTPTLIPAFAPTPVPAPTPAPIFTPAPTPMPAATPAAIPTSAPIPASFSLSRVCFPAAQAPAMQKVPLSFQPGTVLTPSQPLVYIPPPSCGQPLSVATLPTTLGVSSTLTLPVLPSYLQDRCLPGVLASPELRSYPYAFSVARPLTSDSKLVSLEVNRLPCTSPSGSTTTQPAPDGVPGPLADTSLVTASAKVLPTPQPLLPAPSGSSAPPHPAKMPSGTEQQTEGTSVTFSPLKSPPQLEREMASPPECSEMPLDLSSKSNRQKLPLPNQRKTPPMPVLTPVHTSSKALLSTVLSRSQRTTQAAGGNVTSCLGSTSSPFVIFPEIVRNGDPSTWVKNSTALISTIPGTYVGVANPVPASLLLNKDPNLGLNRDPRHLPKQEPISIIDQGEPKGTGATCGKKGSQAGAEGQPSTVKRYTPARIAPGLPGCQTKELSLWKPTGPANIYPRCSVNGKPTSTQVLPVGWSPYHQASLLSIGISSAGQLTPSQGAPIRPTSVVSEFSGVPSLSSSEAVHGLPEGQPRPGGSFVPEQDPVTKNKTCRIAAKPYEEQVNPVLLTLSPQTGTLALSVQPSGGDIRMNQGPEESESHLCSDSTPKMEGPQGACGLKLAGDTKPKNQVLATYMSHELVLATPQNLPKMPELPLLPHDSHPKELILDVVPSSRRGSSTERPQLGSQVDLGRVKMEKVDGDVVFNLATCFRADGLPVAPQRGQAEVRAKAGQARVKQESVGVFACKNKWQPDDVTESLPPKKMKCGKEKDSEEQQLQPQAKAVVRSSHRPKCRKLPSDPQESTKKSPRGASDSGKEHNGVRGKHKHRKPTKPESQSPGKRADSHEEGSLEKKAKSSFRDFIPVVLSTRTRSQSGSICSSFAGMADSDMGSQEVFPTEEEEEVTPTPAKRRKVRKTQRDTQYRSHHAQDKSLLSQGRRHLWRAREMPWRTEAARQMWDTNEEEEEEEEEGLLKRKKRRRQKSRKYQTGEYLTEQEDEQRRKGRADLKARKQKTSSSQSLEHRLRNRNLLLPNKVQGISDSPNGFLPNNLEEPACLENSEKPSGKRKCKTKHMATVSEEAKGKGRWSQQKTRSPKSPTPVKPTEPCTPSKSRSASSEEASESPTARQIPPEARRLIVNKNAGETLLQRAARLGYKDVVLYCLQKDSEDVNHRDNAGYTALHEACSRGWTDILNILLEHGANVNCSAQDGTRPVHDAVVNDNLETIWLLLSYGADPTLATYSGQTAMKLASSDTMKRFLSDHLSDLQGRAEGDPGVSWDFYSSSVLEEKDGFACDLLHNPPGSSDQEGDDPMEEDDFMFELSDKPLLPCYNLQVSVSRGPCNWFLFSDVLKRLKLSSRIFQARFPHFEITTMPKAEFYRQVASSQLLTPAERPGGLDDRSPPGSSETVELVRYEPDLLRLLGSEVEFQSCNS
uniprot
proteins
disease_involvement
DISEASE: 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.; DISEASE: Note=Defects in BCORL1 may be a cause of male infertility due to oligoasthenoteratozoospermia (PubMed:38342987). Affected individuals have a reduced sperm count, decreased progressive sperm motility, and a low proportion of morphologically normal sperm. In some cases, infertility is due to non-obstructive azoospermia. {ECO:0000269|PubMed:38342987}.
uniprot
proteins
function
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. {ECO:0000269|PubMed:17379597}.
uniprot
proteins
mass_dalton
190561
uniprot
proteins
mutagenesis
MUTAGEN 623..624; /note="DL->AS: Strongly reduced repressor activity. Interferes with CTBP1 binding."; /evidence="ECO:0000269|PubMed:17379597"; MUTAGEN 1739; /note="L->D,R: Slightly inhibits interaction with PCGF1."; /evidence="ECO:0000269|PubMed:23523425
uniprot
proteins
protein_family
BCOR family
uniprot
proteins
pubmed
12693554
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17379597
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23523425
uniprot
proteins
pubmed
24123876
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
25755297
uniprot
proteins
pubmed
26933038
uniprot
proteins
pubmed
27568929
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
30941876
uniprot
proteins
pubmed
32376790
uniprot
proteins
pubmed
38342987
uniprot
proteins
sequence_length
1785
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17379597, ECO:0000269|PubMed:38342987}.
uniprot
proteins