BCL11A
entrez
53335
canonical
uniprot
Q9H165
canonical
ensembl
ENSG00000119866
resolver
ensp
ENSP00000338774
resolver
ensp
ENSP00000349300
resolver
ensp
ENSP00000351307
resolver
ensp
ENSP00000352648
resolver
ensp
ENSP00000493484
resolver
ensp
ENSP00000495759
resolver
ensp
ENSP00000496168
resolver
ensp
ENSP00000710957
resolver
enst
ENST00000358510
resolver
enst
ENST00000642439
resolver
enst
ENST00000646249
resolver
genesymbol
BCL11A
resolver
genesymbol_syn
CTIP1
resolver
genesymbol_syn
EVI9
resolver
genesymbol_syn
KIAA1809
resolver
genesymbol_syn
ZNF856
resolver
hgnc
HGNC:13221
resolver
uniprot
A0A2R8Y2E8
resolver
uniprot
A0A2U3TZJ5
resolver
uniprot
B4DT16
resolver
uniprot
D6W5D7
resolver
uniprot
Q66LN6
resolver
uniprot
Q86W14
resolver
uniprot
Q8WU92
resolver
uniprot
Q96JL6
resolver
uniprot
Q9H163
resolver
uniprot
Q9H164
resolver
uniprot
Q9H3G9
resolver
uniprot
Q9NWA7
resolver
uniprot_entry
A0A2R8Y2E8_HUMAN
resolver
uniprot_entry
A0A2U3TZJ5_HUMAN
resolver
uniprot_entry
B4DT16_HUMAN
resolver
uniprot_entry
BC11A_HUMAN
resolver
uniprot_sec
D6W5D7
resolver
uniprot_sec
Q66LN6
resolver
uniprot_sec
Q86W14
resolver
uniprot_sec
Q8WU92
resolver
uniprot_sec
Q96JL6
resolver
uniprot_sec
Q9H163
resolver
uniprot_sec
Q9H164
resolver
uniprot_sec
Q9H3G9
resolver
uniprot_sec
Q9NWA7
resolver
amino_acid_sequence
MSRRKQGKPQHLSKREFSPEPLEAILTDDEPDHGPLGAPEGDHDLLTCGQCQMNFPLGDILIFIEHKRKQCNGSLCLEKAVDKPPSPSPIEMKKASNPVEVGIQVTPEDDDCLSTSSRGICPKQEHIADKLLHWRGLSSPRSAHGALIPTPGMSAEYAPQGICKDEPSSYTCTTCKQPFTSAWFLLQHAQNTHGLRIYLESEHGSPLTPRVGIPSGLGAECPSQPPLHGIHIADNNPFNLLRIPGSVSREASGLAEGRFPPTPPLFSPPPRHHLDPHRIERLGAEEMALATHHPSAFDRVLRLNPMAMEPPAMDFSRRLRELAGNTSSPPLSPGRPSPMQRLLQPFQPGSKPPFLATPPLPPLQSAPPPSQPPVKSKSCEFCGKTFKFQSNLVVHRRSHTGEKPYKCNLCDHACTQASKLKRHMKTHMHKSSPMTVKSDDGLSTASSPEPGTSDLVGSASSALKSVVAKFKSENDPNLIPENGDEEEEEDDEEEEEEEEEEEEELTESERVDYGFGLSLEAARHHENSSRGAVVGVGDESRALPDVMQGMVLSSMQHFSEAFHQVLGEKHKRGHLAEAEGHRDTCDEDSVAGESDRIDDGTVNGRGCSPGESASGGLSKKLLLGSPSSLSPFSKRIKLEKEFDLPPAAMPNTENVYSQWLAGYAASRQLKDPFLSFGDSRQSPFASSSEHSSENGSLRFSTPPGELDGGISGRSGTGSGGSTPHISGPGPGRPSSKEGRRSDTCEYCGKVFKNCSNLTVHRRSHTGERPYKCELCNYACAQSSKLTRHMKTHGQVGKDVYKCEICKMPFSVYSTLEKHMKKWHSDRVLNNDIKTE
uniprot
proteins
disease_involvement
DISEASE: Note=Chromosomal aberrations involving BCL11A are associated with B-cell malignancies. Translocation t(2;14)(p13;q32.3) causes BCL11A deregulation and overexpression. {ECO:0000269|PubMed:11719382}.; DISEASE: Intellectual developmental disorder with persistence of fetal hemoglobin (IDPFH) [MIM:617101]: An autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin. {ECO:0000269|PubMed:27453576, ECO:0000269|PubMed:30250039}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor (PubMed:16704730, PubMed:29606353). Associated with the BAF SWI/SNF chromatin remodeling complex (PubMed:23644491, PubMed:39607926). Binds to the 5'-TGACCA-3' sequence motif in regulatory regions of target genes, including a distal promoter of the HBG1 hemoglobin subunit gamma-1 gene (PubMed:29606353, PubMed:39423807). Involved in regulation of the developmental switch from gamma- to beta-globin, probably via direct repression of HBG1; hence indirectly repressing fetal hemoglobin (HbF) level (PubMed:26375765, PubMed:29606353, PubMed:39423807, PubMed:39607926). Involved in brain development (PubMed:27453576). May play a role in hematopoiesis (By similarity). Essential factor in lymphopoiesis required for B-cell formation in fetal liver (By similarity). May function as a modulator of the transcriptional repression activity of NR2F2 (By similarity). {ECO:0000250|UniProtKB:Q9QYE3, ECO:0000269|PubMed:16704730, ECO:0000269|PubMed:23644491, ECO:0000269|PubMed:29606353, ECO:0000269|PubMed:39423807, ECO:0000269|PubMed:39607926, ECO:0000303|PubMed:26375765, ECO:0000303|PubMed:27453576}.
uniprot
proteins
mass_dalton
91197
uniprot
proteins
mutagenesis
MUTAGEN 46; /note="L->A: Abolishes self-association; when associated with A-57, A-60, A-61 and A-63."; /evidence="ECO:0000269|PubMed:39607926"; MUTAGEN 57; /note="L->A: Abolishes self-association; when associated with A-46, A-60, A-61 and A-63."; /evidence="ECO:0000269|PubMed:39607926"; MUTAGEN 60; /note="I->A: Impairs self-association. Abolishes self-association; when associated with A-46, A-57, A-61 and A-63. Reduces expression in erythroid cells; when associated with A-61."; /evidence="ECO:0000269|PubMed:39607926"; MUTAGEN 61; /note="L->A: Abolishes self-association; when associated with A-46, A-57, A-60 and A-63. Reduces expression in erythroid cells; when associated with A-60."; /evidence="ECO:0000269|PubMed:39607926"; MUTAGEN 63; /note="F->A: Impairs self-association. Abolishes self-association; when associated with A-46, A-57, A-60 and A-61."; /evidence="ECO:0000269|PubMed:39607926
uniprot
proteins
post_translational_modification
PTM: Sumoylated with SUMO1. {ECO:0000250|UniProtKB:Q9QYE3}.
uniprot
proteins
pubmed
11161790
uniprot
proteins
pubmed
11347906
uniprot
proteins
pubmed
11719382
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16704730
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17767159
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
23644491
uniprot
proteins
pubmed
25755297
uniprot
proteins
pubmed
26375765
uniprot
proteins
pubmed
27453576
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
29606353
uniprot
proteins
pubmed
30250039
uniprot
proteins
pubmed
39423807
uniprot
proteins
pubmed
39607926
uniprot
proteins
sequence_length
835
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11161790}. Nucleus {ECO:0000269|PubMed:11161790}. Chromosome {ECO:0000269|PubMed:29606353}. Note=Associates with the nuclear body. Colocalizes with SUMO1 and SENP2 in nuclear speckles (By similarity). {ECO:0000250}.; SUBCELLULAR LOCATION: [Isoform 1]: Nucleus matrix {ECO:0000269|PubMed:16704730}. Note=Colocalizes with BCL6 in nuclear paraspeckles. {ECO:0000269|PubMed:16704730}.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm {ECO:0000269|PubMed:27453576}. Nucleus {ECO:0000269|PubMed:27453576}. Note=Predominantly localized in the nucleus in nuclear paraspeckles. {ECO:0000269|PubMed:27453576}.; SUBCELLULAR LOCATION: [Isoform 3]: Cytoplasm {ECO:0000269|PubMed:27453576}. Nucleus {ECO:0000269|PubMed:27453576}. Note=Predominantly localized in the cytoplasm in the absence of interaction with isoform 1 and isoform 2. In presence of isoform 1 or isoform 2, translocates from the cytoplasm into nuclear paraspeckles. {ECO:0000269|PubMed:27453576}.
uniprot
proteins