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Q9C0K0

- BC11B_HUMAN

UniProt

Q9C0K0 - BC11B_HUMAN

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Protein
B-cell lymphoma/leukemia 11B
Gene
BCL11B, CTIP2, RIT1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Tumor-suppressor protein involved in T-cell lymphomas. May function on the P53-signaling pathway. May be a key regulator of both differentiation and survival during thymocyte development. Repress transcription through direct, TFCOUP2-independent binding to a GC-rich response element By similarity.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri221 – 25131C2H2-type 1
Add
BLAST
Zinc fingeri427 – 45428C2H2-type 2
Add
BLAST
Zinc fingeri455 – 48228C2H2-type 3
Add
BLAST
Zinc fingeri796 – 82328C2H2-type 4
Add
BLAST
Zinc fingeri824 – 85330C2H2-type 5
Add
BLAST
Zinc fingeri854 – 88431C2H2-type 6
Add
BLAST

GO - Molecular functioni

  1. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: Ensembl
  2. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
  3. metal ion binding Source: UniProtKB-KW
  4. protein binding Source: IntAct

GO - Biological processi

  1. T cell differentiation in thymus Source: Ensembl
  2. T cell receptor V(D)J recombination Source: Ensembl
  3. alpha-beta T cell differentiation Source: Ensembl
  4. epithelial cell morphogenesis Source: Ensembl
  5. keratinocyte development Source: Ensembl
  6. negative regulation of apoptotic process Source: Ensembl
  7. negative regulation of cell proliferation Source: Ensembl
  8. odontogenesis of dentin-containing tooth Source: Ensembl
  9. olfactory bulb axon guidance Source: Ensembl
  10. positive T cell selection Source: Ensembl
  11. positive regulation of transcription from RNA polymerase II promoter Source: MGI
  12. post-embryonic camera-type eye development Source: Ensembl
  13. regulation of keratinocyte proliferation Source: Ensembl
  14. regulation of lipid metabolic process Source: Ensembl
  15. regulation of neuron differentiation Source: Ensembl
  16. striatal medium spiny neuron differentiation Source: Ensembl
  17. thymus development Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
B-cell lymphoma/leukemia 11B
Short name:
BCL-11B
Alternative name(s):
B-cell CLL/lymphoma 11B
COUP-TF-interacting protein 2
Radiation-induced tumor suppressor gene 1 protein
Short name:
hRit1
Gene namesi
Name:BCL11B
Synonyms:CTIP2, RIT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 14

Organism-specific databases

HGNCiHGNC:13222. BCL11B.

Subcellular locationi

Nucleus Reviewed prediction

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25301.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 894894B-cell lymphoma/leukemia 11B
PRO_0000047104Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei97 – 971Phosphoserine1 Publication
Modified residuei120 – 1201Phosphothreonine1 Publication
Modified residuei256 – 2561Phosphoserine1 Publication
Modified residuei260 – 2601Phosphothreonine1 Publication
Modified residuei277 – 2771Phosphoserine1 Publication
Modified residuei358 – 3581Phosphoserine1 Publication
Modified residuei376 – 3761Phosphothreonine1 Publication
Modified residuei381 – 3811Phosphoserine1 Publication
Modified residuei398 – 3981Phosphoserine1 Publication
Modified residuei417 – 4171Phosphothreonine1 Publication
Modified residuei483 – 4831Phosphoserine1 Publication
Modified residuei488 – 4881Phosphoserine1 Publication
Modified residuei496 – 4961Phosphoserine1 Publication
Modified residuei497 – 4971Phosphoserine1 Publication
Modified residuei678 – 6781Phosphoserine1 Publication
Modified residuei765 – 7651Phosphoserine1 Publication
Modified residuei851 – 8511N6-acetyllysine1 Publication

Post-translational modificationi

Sumoylated with SUMO1 By similarity.

Keywords - PTMi

Acetylation, Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQBiQ9C0K0.
PaxDbiQ9C0K0.
PRIDEiQ9C0K0.

PTM databases

PhosphoSiteiQ9C0K0.

Expressioni

Tissue specificityi

Highly expressed in brain and in malignant T-cell lines derived from patients with adult T-cell leukemia/lymphoma.

Gene expression databases

ArrayExpressiQ9C0K0.
BgeeiQ9C0K0.
CleanExiHS_BCL11B.
HS_RIT1.
GenevestigatoriQ9C0K0.

Organism-specific databases

HPAiHPA049117.

Interactioni

Subunit structurei

Interacts with TFCOUP1, SIRT1, ARP1 and EAR2 By similarity.

Binary interactionsi

WithEntry#Exp.IntActNotes
HDAC1Q135473EBI-6597578,EBI-301834
HDAC2Q927693EBI-6597578,EBI-301821
SUV39H1O434633EBI-6597578,EBI-349968

Protein-protein interaction databases

BioGridi122343. 18 interactions.
DIPiDIP-44025N.
IntActiQ9C0K0. 5 interactions.
MINTiMINT-4298937.
STRINGi9606.ENSP00000349723.

Structurei

3D structure databases

ProteinModelPortaliQ9C0K0.
SMRiQ9C0K0. Positions 211-250, 424-509, 760-881.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi529 – 55325Glu-rich
Add
BLAST
Compositional biasi569 – 66193Gly-rich
Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiNOG271772.
HOGENOMiHOG000015256.
HOVERGENiHBG050673.
InParanoidiQ9C0K0.
OMAiDDAGGCG.
OrthoDBiEOG7MH0XP.
PhylomeDBiQ9C0K0.
TreeFamiTF318131.

Family and domain databases

Gene3Di3.30.160.60. 4 hits.
InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF00096. zf-C2H2. 1 hit.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 6 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 6 hits.
PS50157. ZINC_FINGER_C2H2_2. 6 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9C0K0-1) [UniParc]FASTAAdd to Basket

Also known as: Alpha

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MSRRKQGNPQ HLSQRELITP EADHVEAAIL EEDEGLEIEE PSGLGLMVGG    50
PDPDLLTCGQ CQMNFPLGDI LVFIEHKRKQ CGGSLGACYD KALDKDSPPP 100
SSRSELRKVS EPVEIGIQVT PDEDDHLLSP TKGICPKQEN IAGPCRPAQL 150
PAVAPIAASS HPHSSVITSP LRALGALPPC LPLPCCSARP VSGDGTQGEG 200
QTEAPFGCQC QLSGKDEPSS YICTTCKQPF NSAWFLLQHA QNTHGFRIYL 250
EPGPASSSLT PRLTIPPPLG PEAVAQSPLM NFLGDSNPFN LLRMTGPILR 300
DHPGFGEGRL PGTPPLFSPP PRHHLDPHRL SAEEMGLVAQ HPSAFDRVMR 350
LNPMAIDSPA MDFSRRLREL AGNSSTPPPV SPGRGNPMHR LLNPFQPSPK 400
SPFLSTPPLP PMPPGGTPPP QPPAKSKSCE FCGKTFKFQS NLIVHRRSHT 450
GEKPYKCQLC DHACSQASKL KRHMKTHMHK AGSLAGRSDD GLSAASSPEP 500
GTSELAGEGL KAADGDFRHH ESDPSLGHEP EEEDEEEEEE EEELLLENES 550
RPESSFSMDS ELSRNRENGG GGVPGVPGAG GGAAKALADE KALVLGKVME 600
NVGLGALPQY GELLADKQKR GAFLKRAAGG GDAGDDDDAG GCGDAGAGGA 650
VNGRGGGFAP GTEPFPGLFP RKPAPLPSPG LNSAAKRIKV EKDLELPPAA 700
LIPSENVYSQ WLVGYAASRH FMKDPFLGFT DARQSPFATS SEHSSENGSL 750
RFSTPPGDLL DGGLSGRSGT ASGGSTPHLG GPGPGRPSSK EGRRSDTCEY 800
CGKVFKNCSN LTVHRRSHTG ERPYKCELCN YACAQSSKLT RHMKTHGQIG 850
KEVYRCDICQ MPFSVYSTLE KHMKKWHGEH LLTNDVKIEQ AERS 894
Length:894
Mass (Da):95,519
Last modified:June 1, 2001 - v1
Checksum:iDF6C467AE2EEC122
GO
Isoform 2 (identifier: Q9C0K0-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     143-213: Missing.

Note: May be due to exon skipping.

Show »
Length:823
Mass (Da):88,476
Checksum:i589266E55A4C367E
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti32 – 321E → V in a patient with amyotrophic lateral sclerosis. 1 Publication
VAR_065741
Natural varianti229 – 2291P → S in a patient with amyotrophic lateral sclerosis. 1 Publication
VAR_065742
Natural varianti331 – 3311S → P in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_035554

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei143 – 21371Missing in isoform 2.
VSP_009565Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ404614 mRNA. Translation: CAC17726.1.
AB043584 mRNA. Translation: BAB32731.1.
CCDSiCCDS9949.1. [Q9C0K0-2]
CCDS9950.1. [Q9C0K0-1]
RefSeqiNP_001269166.1. NM_001282237.1.
NP_001269167.1. NM_001282238.1.
NP_075049.1. NM_022898.2. [Q9C0K0-2]
NP_612808.1. NM_138576.3. [Q9C0K0-1]
UniGeneiHs.709690.

Genome annotation databases

EnsembliENST00000345514; ENSP00000280435; ENSG00000127152. [Q9C0K0-2]
ENST00000357195; ENSP00000349723; ENSG00000127152. [Q9C0K0-1]
GeneIDi64919.
KEGGihsa:64919.
UCSCiuc001yga.3. human. [Q9C0K0-1]
uc001ygb.3. human. [Q9C0K0-2]

Polymorphism databases

DMDMi44887723.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ404614 mRNA. Translation: CAC17726.1 .
AB043584 mRNA. Translation: BAB32731.1 .
CCDSi CCDS9949.1. [Q9C0K0-2 ]
CCDS9950.1. [Q9C0K0-1 ]
RefSeqi NP_001269166.1. NM_001282237.1.
NP_001269167.1. NM_001282238.1.
NP_075049.1. NM_022898.2. [Q9C0K0-2 ]
NP_612808.1. NM_138576.3. [Q9C0K0-1 ]
UniGenei Hs.709690.

3D structure databases

ProteinModelPortali Q9C0K0.
SMRi Q9C0K0. Positions 211-250, 424-509, 760-881.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122343. 18 interactions.
DIPi DIP-44025N.
IntActi Q9C0K0. 5 interactions.
MINTi MINT-4298937.
STRINGi 9606.ENSP00000349723.

PTM databases

PhosphoSitei Q9C0K0.

Polymorphism databases

DMDMi 44887723.

Proteomic databases

MaxQBi Q9C0K0.
PaxDbi Q9C0K0.
PRIDEi Q9C0K0.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000345514 ; ENSP00000280435 ; ENSG00000127152 . [Q9C0K0-2 ]
ENST00000357195 ; ENSP00000349723 ; ENSG00000127152 . [Q9C0K0-1 ]
GeneIDi 64919.
KEGGi hsa:64919.
UCSCi uc001yga.3. human. [Q9C0K0-1 ]
uc001ygb.3. human. [Q9C0K0-2 ]

Organism-specific databases

CTDi 64919.
GeneCardsi GC14M099635.
HGNCi HGNC:13222. BCL11B.
HPAi HPA049117.
MIMi 606558. gene.
neXtProti NX_Q9C0K0.
PharmGKBi PA25301.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG271772.
HOGENOMi HOG000015256.
HOVERGENi HBG050673.
InParanoidi Q9C0K0.
OMAi DDAGGCG.
OrthoDBi EOG7MH0XP.
PhylomeDBi Q9C0K0.
TreeFami TF318131.

Miscellaneous databases

ChiTaRSi BCL11B. human.
GeneWikii BCL11B.
GenomeRNAii 64919.
NextBioi 67057.
PROi Q9C0K0.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9C0K0.
Bgeei Q9C0K0.
CleanExi HS_BCL11B.
HS_RIT1.
Genevestigatori Q9C0K0.

Family and domain databases

Gene3Di 3.30.160.60. 4 hits.
InterProi IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view ]
Pfami PF00096. zf-C2H2. 1 hit.
[Graphical view ]
SMARTi SM00355. ZnF_C2H2. 6 hits.
[Graphical view ]
PROSITEi PS00028. ZINC_FINGER_C2H2_1. 6 hits.
PS50157. ZINC_FINGER_C2H2_2. 6 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
  2. "Homozygous deletions and point mutations of the Rit1/Bcl11b gene in gamma-ray induced mouse thymic lymphomas."
    Wakabayashi Y., Inoue J., Takahashi Y., Matsuki A., Kosugi-Okano H., Shinbo T., Mishima Y., Niwa O., Kominami R.
    Biochem. Biophys. Res. Commun. 301:598-603(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Thymus.
  3. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-97; THR-120; SER-256; THR-260; SER-277; SER-358; THR-376; SER-381; SER-398; THR-417; SER-483; SER-488; SER-496; SER-497; SER-678 AND SER-765, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  4. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
    Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
    Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-851, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  5. Cited for: VARIANT [LARGE SCALE ANALYSIS] PRO-331.
  6. "Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosis."
    Daoud H., Valdmanis P.N., Gros-Louis F., Belzil V., Spiegelman D., Henrion E., Diallo O., Desjarlais A., Gauthier J., Camu W., Dion P.A., Rouleau G.A.
    Arch. Neurol. 68:587-593(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS VAL-32 AND SER-229.

Entry informationi

Entry nameiBC11B_HUMAN
AccessioniPrimary (citable) accession number: Q9C0K0
Secondary accession number(s): Q9H162
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: June 1, 2001
Last modified: July 9, 2014
This is version 110 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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