BCL11B
entrez
64919
canonical
uniprot
Q9C0K0
canonical
ensembl
ENSG00000127152
resolver
ensp
ENSP00000280435
resolver
ensp
ENSP00000349723
resolver
genesymbol
ATL1-alpha
resolver
genesymbol
ATL1-beta
resolver
genesymbol
ATL1-delta
resolver
genesymbol
ATL1-gamma
resolver
genesymbol
BCL11B
resolver
genesymbol_syn
BCL11B
resolver
genesymbol_syn
CTIP2
resolver
genesymbol_syn
RIT1
resolver
hgnc
HGNC:13222
resolver
uniprot
L8B567
resolver
uniprot
L8B7P7
resolver
uniprot
L8B862
resolver
uniprot
L8B8F6
resolver
uniprot
Q9H162
resolver
uniprot_entry
BC11B_HUMAN
resolver
uniprot_entry
L8B567_HUMAN
resolver
uniprot_entry
L8B7P7_HUMAN
resolver
uniprot_entry
L8B862_HUMAN
resolver
uniprot_entry
L8B8F6_HUMAN
resolver
uniprot_sec
Q9H162
resolver
amino_acid_sequence
MSRRKQGNPQHLSQRELITPEADHVEAAILEEDEGLEIEEPSGLGLMVGGPDPDLLTCGQCQMNFPLGDILVFIEHKRKQCGGSLGACYDKALDKDSPPPSSRSELRKVSEPVEIGIQVTPDEDDHLLSPTKGICPKQENIAGPCRPAQLPAVAPIAASSHPHSSVITSPLRALGALPPCLPLPCCSARPVSGDGTQGEGQTEAPFGCQCQLSGKDEPSSYICTTCKQPFNSAWFLLQHAQNTHGFRIYLEPGPASSSLTPRLTIPPPLGPEAVAQSPLMNFLGDSNPFNLLRMTGPILRDHPGFGEGRLPGTPPLFSPPPRHHLDPHRLSAEEMGLVAQHPSAFDRVMRLNPMAIDSPAMDFSRRLRELAGNSSTPPPVSPGRGNPMHRLLNPFQPSPKSPFLSTPPLPPMPPGGTPPPQPPAKSKSCEFCGKTFKFQSNLIVHRRSHTGEKPYKCQLCDHACSQASKLKRHMKTHMHKAGSLAGRSDDGLSAASSPEPGTSELAGEGLKAADGDFRHHESDPSLGHEPEEEDEEEEEEEEELLLENESRPESSFSMDSELSRNRENGGGGVPGVPGAGGGAAKALADEKALVLGKVMENVGLGALPQYGELLADKQKRGAFLKRAAGGGDAGDDDDAGGCGDAGAGGAVNGRGGGFAPGTEPFPGLFPRKPAPLPSPGLNSAAKRIKVEKDLELPPAALIPSENVYSQWLVGYAASRHFMKDPFLGFTDARQSPFATSSEHSSENGSLRFSTPPGDLLDGGLSGRSGTASGGSTPHLGGPGPGRPSSKEGRRSDTCEYCGKVFKNCSNLTVHRRSHTGERPYKCELCNYACAQSSKLTRHMKTHGQIGKEVYRCDICQMPFSVYSTLEKHMKKWHGEHLLTNDVKIEQAERS
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency 49, severe combined (IMD49) [MIM:617237]: A form of severe combined immunodeficiency characterized by severe T-cell lymphopenia, no detectable T-cell receptor excision circles, no naive helper CD4+ T-cells, and impaired T-cell proliferative response. In addition to primary immunodeficiency, affected individuals manifest multiple abnormal systemic features, including severe delayed psychomotor development, intellectual disability, spastic quadriplegia, and craniofacial abnormalities. {ECO:0000269|PubMed:27959755, ECO:0000269|PubMed:29985992}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Intellectual developmental disorder with speech delay, dysmorphic facies, and T-cell abnormalities (IDDSFTA) [MIM:618092]: An autosomal dominant developmental disorder with onset in first months of life, and characterized by delayed psychomotor development with intellectual disability and speech delay. Additional features include autistic features, attention deficit-hyperactivity disorder, anxiety, and other behavioral abnormalities. Some patients suffer from recurrent infections, asthma and allergies. {ECO:0000269|PubMed:29985992}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Key regulator of both differentiation and survival of T-lymphocytes during thymocyte development in mammals. Essential in controlling the responsiveness of hematopoietic stem cells to chemotactic signals by modulating the expression of the receptors CCR7 and CCR9, which direct the movement of progenitor cells from the bone marrow to the thymus (PubMed:27959755). Is a regulator of IL2 promoter and enhances IL2 expression in activated CD4(+) T-lymphocytes (PubMed:16809611). Tumor-suppressor that represses transcription through direct, TFCOUP2-independent binding to a GC-rich response element (By similarity). May also function in the P53-signaling pathway (By similarity). {ECO:0000250|UniProtKB:Q99PV8, ECO:0000269|PubMed:16809611, ECO:0000269|PubMed:27959755}.
uniprot
proteins
mass_dalton
95519
uniprot
proteins
post_translational_modification
PTM: Sumoylated with SUMO1. {ECO:0000250}.
uniprot
proteins
pubmed
11719382
uniprot
proteins
pubmed
12565905
uniprot
proteins
pubmed
16809611
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21220648
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25755297
uniprot
proteins
pubmed
27959755
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
29985992
uniprot
proteins
sequence_length
894
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
uniprot
proteins