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Q9C0K0

- BC11B_HUMAN

UniProt

Q9C0K0 - BC11B_HUMAN

Protein

B-cell lymphoma/leukemia 11B

Gene

BCL11B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 111 (01 Oct 2014)
      Sequence version 1 (01 Jun 2001)
      Previous versions | rss
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    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.By similarity

    Regions

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

    GO - Molecular functioni

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

    GO - Biological processi

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

    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 Curated

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    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 11BPRO_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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

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

    Sequence similaritiesi

    Contains 6 C2H2-type zinc fingers.PROSITE-ProRule annotation

    Zinc finger

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

    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. 1 PublicationVSP_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

    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: October 1, 2014
    This is version 111 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