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Q9C0K0 (BC11B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 110. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:BCL11B
Synonyms:CTIP2, RIT1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length894 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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

Subcellular location

Nucleus Potential.

Tissue specificity

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

Post-translational modification

Sumoylated with SUMO1 By similarity.

Sequence similarities

Contains 6 C2H2-type zinc fingers.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
Zinc-finger
   LigandMetal-binding
Zinc
   Molecular functionRepressor
   PTMAcetylation
Phosphoprotein
Ubl conjugation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processT cell differentiation in thymus

Inferred from electronic annotation. Source: Ensembl

T cell receptor V(D)J recombination

Inferred from electronic annotation. Source: Ensembl

alpha-beta T cell differentiation

Inferred from electronic annotation. Source: Ensembl

epithelial cell morphogenesis

Inferred from electronic annotation. Source: Ensembl

keratinocyte development

Inferred from electronic annotation. Source: Ensembl

negative regulation of apoptotic process

Inferred from electronic annotation. Source: Ensembl

negative regulation of cell proliferation

Inferred from electronic annotation. Source: Ensembl

odontogenesis of dentin-containing tooth

Inferred from electronic annotation. Source: Ensembl

olfactory bulb axon guidance

Inferred from electronic annotation. Source: Ensembl

positive T cell selection

Inferred from electronic annotation. Source: Ensembl

positive regulation of transcription from RNA polymerase II promoter

Inferred from mutant phenotype PubMed 16809611. Source: MGI

post-embryonic camera-type eye development

Inferred from electronic annotation. Source: Ensembl

regulation of keratinocyte proliferation

Inferred from electronic annotation. Source: Ensembl

regulation of lipid metabolic process

Inferred from electronic annotation. Source: Ensembl

regulation of neuron differentiation

Inferred from electronic annotation. Source: Ensembl

striatal medium spiny neuron differentiation

Inferred from electronic annotation. Source: Ensembl

thymus development

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionRNA polymerase II core promoter proximal region sequence-specific DNA binding

Inferred from electronic annotation. Source: Ensembl

RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription

Inferred from electronic annotation. Source: Ensembl

metal ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

protein binding

Inferred from physical interaction PubMed 17245431PubMed 23752268. Source: IntAct

Complete GO annotation...

Binary interactions

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9C0K0-1)

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.
Isoform 2 (identifier: Q9C0K0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     143-213: Missing.
Note: May be due to exon skipping.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 894894B-cell lymphoma/leukemia 11B
PRO_0000047104

Regions

Zinc finger221 – 25131C2H2-type 1
Zinc finger427 – 45428C2H2-type 2
Zinc finger455 – 48228C2H2-type 3
Zinc finger796 – 82328C2H2-type 4
Zinc finger824 – 85330C2H2-type 5
Zinc finger854 – 88431C2H2-type 6
Compositional bias529 – 55325Glu-rich
Compositional bias569 – 66193Gly-rich

Amino acid modifications

Modified residue971Phosphoserine Ref.3
Modified residue1201Phosphothreonine Ref.3
Modified residue2561Phosphoserine Ref.3
Modified residue2601Phosphothreonine Ref.3
Modified residue2771Phosphoserine Ref.3
Modified residue3581Phosphoserine Ref.3
Modified residue3761Phosphothreonine Ref.3
Modified residue3811Phosphoserine Ref.3
Modified residue3981Phosphoserine Ref.3
Modified residue4171Phosphothreonine Ref.3
Modified residue4831Phosphoserine Ref.3
Modified residue4881Phosphoserine Ref.3
Modified residue4961Phosphoserine Ref.3
Modified residue4971Phosphoserine Ref.3
Modified residue6781Phosphoserine Ref.3
Modified residue7651Phosphoserine Ref.3
Modified residue8511N6-acetyllysine Ref.4

Natural variations

Alternative sequence143 – 21371Missing in isoform 2.
VSP_009565
Natural variant321E → V in a patient with amyotrophic lateral sclerosis. Ref.6
VAR_065741
Natural variant2291P → S in a patient with amyotrophic lateral sclerosis. Ref.6
VAR_065742
Natural variant3311S → P in a colorectal cancer sample; somatic mutation. Ref.5
VAR_035554

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Alpha) [UniParc].

Last modified June 1, 2001. Version 1.
Checksum: DF6C467AE2EEC122

FASTA89495,519
        10         20         30         40         50         60 
MSRRKQGNPQ HLSQRELITP EADHVEAAIL EEDEGLEIEE PSGLGLMVGG PDPDLLTCGQ 

        70         80         90        100        110        120 
CQMNFPLGDI LVFIEHKRKQ CGGSLGACYD KALDKDSPPP SSRSELRKVS EPVEIGIQVT 

       130        140        150        160        170        180 
PDEDDHLLSP TKGICPKQEN IAGPCRPAQL PAVAPIAASS HPHSSVITSP LRALGALPPC 

       190        200        210        220        230        240 
LPLPCCSARP VSGDGTQGEG QTEAPFGCQC QLSGKDEPSS YICTTCKQPF NSAWFLLQHA 

       250        260        270        280        290        300 
QNTHGFRIYL EPGPASSSLT PRLTIPPPLG PEAVAQSPLM NFLGDSNPFN LLRMTGPILR 

       310        320        330        340        350        360 
DHPGFGEGRL PGTPPLFSPP PRHHLDPHRL SAEEMGLVAQ HPSAFDRVMR LNPMAIDSPA 

       370        380        390        400        410        420 
MDFSRRLREL AGNSSTPPPV SPGRGNPMHR LLNPFQPSPK SPFLSTPPLP PMPPGGTPPP 

       430        440        450        460        470        480 
QPPAKSKSCE FCGKTFKFQS NLIVHRRSHT GEKPYKCQLC DHACSQASKL KRHMKTHMHK 

       490        500        510        520        530        540 
AGSLAGRSDD GLSAASSPEP GTSELAGEGL KAADGDFRHH ESDPSLGHEP EEEDEEEEEE 

       550        560        570        580        590        600 
EEELLLENES RPESSFSMDS ELSRNRENGG GGVPGVPGAG GGAAKALADE KALVLGKVME 

       610        620        630        640        650        660 
NVGLGALPQY GELLADKQKR GAFLKRAAGG GDAGDDDDAG GCGDAGAGGA VNGRGGGFAP 

       670        680        690        700        710        720 
GTEPFPGLFP RKPAPLPSPG LNSAAKRIKV EKDLELPPAA LIPSENVYSQ WLVGYAASRH 

       730        740        750        760        770        780 
FMKDPFLGFT DARQSPFATS SEHSSENGSL RFSTPPGDLL DGGLSGRSGT ASGGSTPHLG 

       790        800        810        820        830        840 
GPGPGRPSSK EGRRSDTCEY CGKVFKNCSN LTVHRRSHTG ERPYKCELCN YACAQSSKLT 

       850        860        870        880        890 
RHMKTHGQIG KEVYRCDICQ MPFSVYSTLE KHMKKWHGEH LLTNDVKIEQ AERS 

« Hide

Isoform 2 [UniParc].

Checksum: 589266E55A4C367E
Show »

FASTA82388,476

References

« Hide 'large scale' references
[1]"The BCL11 gene family: involvement of BCL11A in lymphoid malignancies."
Satterwhite E., Sonoki T., Willis T.G., Harder L., Nowak R., Arriola E.L., Liu H., Price H.P., Gesk S., Steinemann D., Schlegelberger B., Oscier D.G., Siebert R., Tucker P.W., Dyer M.J.
Blood 98:3413-3420(2001) [PubMed] [Europe PMC] [Abstract]
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]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ404614 mRNA. Translation: CAC17726.1.
AB043584 mRNA. Translation: BAB32731.1.
CCDSCCDS9949.1. [Q9C0K0-2]
CCDS9950.1. [Q9C0K0-1]
RefSeqNP_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]
UniGeneHs.709690.

3D structure databases

ProteinModelPortalQ9C0K0.
SMRQ9C0K0. Positions 211-250, 424-509, 760-881.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122343. 18 interactions.
DIPDIP-44025N.
IntActQ9C0K0. 5 interactions.
MINTMINT-4298937.
STRING9606.ENSP00000349723.

PTM databases

PhosphoSiteQ9C0K0.

Polymorphism databases

DMDM44887723.

Proteomic databases

MaxQBQ9C0K0.
PaxDbQ9C0K0.
PRIDEQ9C0K0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000345514; ENSP00000280435; ENSG00000127152. [Q9C0K0-2]
ENST00000357195; ENSP00000349723; ENSG00000127152. [Q9C0K0-1]
GeneID64919.
KEGGhsa:64919.
UCSCuc001yga.3. human. [Q9C0K0-1]
uc001ygb.3. human. [Q9C0K0-2]

Organism-specific databases

CTD64919.
GeneCardsGC14M099635.
HGNCHGNC:13222. BCL11B.
HPAHPA049117.
MIM606558. gene.
neXtProtNX_Q9C0K0.
PharmGKBPA25301.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG271772.
HOGENOMHOG000015256.
HOVERGENHBG050673.
InParanoidQ9C0K0.
OMADDAGGCG.
OrthoDBEOG7MH0XP.
PhylomeDBQ9C0K0.
TreeFamTF318131.

Gene expression databases

ArrayExpressQ9C0K0.
BgeeQ9C0K0.
CleanExHS_BCL11B.
HS_RIT1.
GenevestigatorQ9C0K0.

Family and domain databases

Gene3D3.30.160.60. 4 hits.
InterProIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamPF00096. zf-C2H2. 1 hit.
[Graphical view]
SMARTSM00355. ZnF_C2H2. 6 hits.
[Graphical view]
PROSITEPS00028. ZINC_FINGER_C2H2_1. 6 hits.
PS50157. ZINC_FINGER_C2H2_2. 6 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSBCL11B. human.
GeneWikiBCL11B.
GenomeRNAi64919.
NextBio67057.
PROQ9C0K0.
SOURCESearch...

Entry information

Entry nameBC11B_HUMAN
AccessionPrimary (citable) accession number: Q9C0K0
Secondary accession number(s): Q9H162
Entry history
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 statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM