BCL11A - Gene info - The Human Protein Atlas

Gene name

BCL11A (HGNC Symbol)

Synonyms

BCL11A-L, BCL11A-S, BCL11A-XL, CTIP1, EVI9, HBFQTL5, ZNF856

Description

B-cell CLL/lymphoma 11A (zinc finger protein) (HGNC Symbol)

Entrez gene summary

This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Chromosome

Cytoband

p16.1

Chromosome location (bp)

60451167 - 60553567

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000119866 (version 78.38)

Entrez gene

53335

UniProt

Q9H165 (UniProt - Evidence at protein level)

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

BCL11A-001

ENSP00000338774
ENST00000335712

Q9H165
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Q9H165 [Direct mapping]
B-cell lymphoma/leukemia 11A
D6W5D9 [Target identity:100%; Query identity:100%]
B-cell CLL/lymphoma 11A (Zinc finger protein), isoform CRA_b {ECO:0000313|EMBL:EAX00039.1}; BCL11A B-cell CLL/lymphoma 11A (Zinc finger protein) isoform 1 {ECO:0000313|EMBL:ADL14508.1}
Q53TS1 [Target identity:84%; Query identity:100%]
Putative uncharacterized protein BCL11A {ECO:0000313|EMBL:AAX93205.1}
Q53TE8 [Target identity:15%; Query identity:100%]
Putative uncharacterized protein BCL11A {ECO:0000313|EMBL:AAY14784.1}

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Predicted intracellular proteins
Plasma proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Cancer-related genes
   Candidate cancer biomarkers
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

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GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0001078 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription]
GO:0003714 [transcription corepressor activity]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0006351 [transcription, DNA-templated]
GO:0010629 [negative regulation of gene expression]
GO:0010976 [positive regulation of neuron projection development]
GO:0010977 [negative regulation of neuron projection development]
GO:0016925 [protein sumoylation]
GO:0030183 [B cell differentiation]
GO:0030217 [T cell differentiation]
GO:0030517 [negative regulation of axon extension]
GO:0032463 [negative regulation of protein homooligomerization]
GO:0042803 [protein homodimerization activity]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046872 [metal ion binding]
GO:0046982 [protein heterodimerization activity]
GO:0048671 [negative regulation of collateral sprouting]
GO:0048672 [positive regulation of collateral sprouting]
GO:0050773 [regulation of dendrite development]
GO:2000171 [negative regulation of dendrite development]
GO:2001141 [regulation of RNA biosynthetic process]

835

91.2

BCL11A-002

ENSP00000349300
ENST00000356842

Q9H165
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Q9H165 [Direct mapping]
B-cell lymphoma/leukemia 11A
D9YZV9 [Target identity:100%; Query identity:100%]
B-cell CLL/lymphoma 11A (Zinc finger protein) isoform 2 {ECO:0000313|EMBL:ADL14507.1}; B-cell CLL/lymphoma 11A (Zinc finger protein), isoform CRA_c {ECO:0000313|EMBL:EAX00037.1}
Q53TE8 [Target identity:16%; Query identity:100%]
Putative uncharacterized protein BCL11A {ECO:0000313|EMBL:AAY14784.1}

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GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0001078 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0006351 [transcription, DNA-templated]
GO:0010976 [positive regulation of neuron projection development]
GO:0010977 [negative regulation of neuron projection development]
GO:0016925 [protein sumoylation]
GO:0030517 [negative regulation of axon extension]
GO:0032463 [negative regulation of protein homooligomerization]
GO:0042803 [protein homodimerization activity]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046872 [metal ion binding]
GO:0046982 [protein heterodimerization activity]
GO:0048671 [negative regulation of collateral sprouting]
GO:0048672 [positive regulation of collateral sprouting]
GO:0050773 [regulation of dendrite development]
GO:2000171 [negative regulation of dendrite development]

773

83.9

BCL11A-003

ENSP00000352648
ENST00000359629

Q9H165
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Q9H165 [Direct mapping]
B-cell lymphoma/leukemia 11A
Q53TE8 [Target identity:52%; Query identity:100%]
Putative uncharacterized protein BCL11A {ECO:0000313|EMBL:AAY14784.1}

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GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0001078 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0006351 [transcription, DNA-templated]
GO:0010976 [positive regulation of neuron projection development]
GO:0010977 [negative regulation of neuron projection development]
GO:0016925 [protein sumoylation]
GO:0030517 [negative regulation of axon extension]
GO:0032463 [negative regulation of protein homooligomerization]
GO:0042803 [protein homodimerization activity]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046872 [metal ion binding]
GO:0046982 [protein heterodimerization activity]
GO:0048671 [negative regulation of collateral sprouting]
GO:0048672 [positive regulation of collateral sprouting]
GO:0050773 [regulation of dendrite development]
GO:2000171 [negative regulation of dendrite development]

243

26.9

BCL11A-006

ENSP00000351307
ENST00000358510

Q9H165
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Q9H165 [Direct mapping]
B-cell lymphoma/leukemia 11A
Q53TE8 [Target identity:15%; Query identity:100%]
Putative uncharacterized protein BCL11A {ECO:0000313|EMBL:AAY14784.1}

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GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0001078 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0006351 [transcription, DNA-templated]
GO:0010976 [positive regulation of neuron projection development]
GO:0010977 [negative regulation of neuron projection development]
GO:0016925 [protein sumoylation]
GO:0030517 [negative regulation of axon extension]
GO:0032463 [negative regulation of protein homooligomerization]
GO:0042803 [protein homodimerization activity]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046872 [metal ion binding]
GO:0046982 [protein heterodimerization activity]
GO:0048671 [negative regulation of collateral sprouting]
GO:0048672 [positive regulation of collateral sprouting]
GO:0050773 [regulation of dendrite development]
GO:2000171 [negative regulation of dendrite development]

801

87.6

The Human Protein Atlas project is funded by the Knut & Alice Wallenberg foundation.