Q9C0K0 (BC11B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	BCL11B
Synonyms:	CTIP2, RIT1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	894 AA.
Sequence status	Complete.
Protein existence	Evidence 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.
Sequence similarities	Contains 6 C2H2-type zinc fingers.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat Zinc-finger
Ligand	Metal-binding Zinc
Molecular function	Repressor
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 894	894	B-cell lymphoma/leukemia 11B		PRO_0000047104
Regions
	Zinc finger	221 – 251	31	C2H2-type 1
	Zinc finger	427 – 454	28	C2H2-type 2
	Zinc finger	455 – 482	28	C2H2-type 3
	Zinc finger	796 – 823	28	C2H2-type 4
	Zinc finger	824 – 853	30	C2H2-type 5
	Zinc finger	854 – 884	31	C2H2-type 6
	Compositional bias	529 – 553	25	Glu-rich
	Compositional bias	569 – 661	93	Gly-rich
Amino acid modifications
	Modified residue	97	1	Phosphoserine Ref.4
	Modified residue	120	1	Phosphothreonine Ref.4
	Modified residue	256	1	Phosphoserine Ref.4
	Modified residue	260	1	Phosphothreonine Ref.4
	Modified residue	277	1	Phosphoserine Ref.4
	Modified residue	313	1	Phosphothreonine Ref.4
	Modified residue	318	1	Phosphoserine Ref.4
	Modified residue	358	1	Phosphoserine Ref.4
	Modified residue	376	1	Phosphothreonine Ref.4
	Modified residue	381	1	Phosphoserine Ref.4
	Modified residue	417	1	Phosphothreonine Ref.4
	Modified residue	483	1	Phosphoserine Ref.4
	Modified residue	488	1	Phosphoserine Ref.4
	Modified residue	493	1	Phosphoserine Ref.4
	Modified residue	496	1	Phosphoserine Ref.4
	Modified residue	497	1	Phosphoserine Ref.4
	Modified residue	678	1	Phosphoserine Ref.4
	Modified residue	754	1	Phosphothreonine Ref.4
	Modified residue	765	1	Phosphoserine Ref.4
	Modified residue	772	1	Phosphoserine Ref.3
	Modified residue	851	1	N6-acetyllysine Ref.5
Natural variations
	Alternative sequence	143 – 213	71	Missing in isoform 2.		VSP_009565
	Natural variant	32	1	E → V in a patient with amyotrophic lateral sclerosis. Ref.7		VAR_065741
	Natural variant	229	1	P → S in a patient with amyotrophic lateral sclerosis. Ref.7		VAR_065742
	Natural variant	331	1	S → P in a colorectal cancer sample; somatic mutation. Ref.6		VAR_035554

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (Alpha) [UniParc]. Last modified June 1, 2001. Version 1. Checksum: DF6C467AE2EEC122	FASTA	894	95,519
	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
	Isoform 2 [UniParc]. Checksum: 589266E55A4C367E	FASTA	823	88,476
	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 IAGKDEPSSY ICTTCKQPFN SAWFLLQHAQ NTHGFRIYLE 190 200 210 220 230 240 PGPASSSLTP RLTIPPPLGP EAVAQSPLMN FLGDSNPFNL LRMTGPILRD HPGFGEGRLP 250 260 270 280 290 300 GTPPLFSPPP RHHLDPHRLS AEEMGLVAQH PSAFDRVMRL NPMAIDSPAM DFSRRLRELA 310 320 330 340 350 360 GNSSTPPPVS PGRGNPMHRL LNPFQPSPKS PFLSTPPLPP MPPGGTPPPQ PPAKSKSCEF 370 380 390 400 410 420 CGKTFKFQSN LIVHRRSHTG EKPYKCQLCD HACSQASKLK RHMKTHMHKA GSLAGRSDDG 430 440 450 460 470 480 LSAASSPEPG TSELAGEGLK AADGDFRHHE SDPSLGHEPE EEDEEEEEEE EELLLENESR 490 500 510 520 530 540 PESSFSMDSE LSRNRENGGG GVPGVPGAGG GAAKALADEK ALVLGKVMEN VGLGALPQYG 550 560 570 580 590 600 ELLADKQKRG AFLKRAAGGG DAGDDDDAGG CGDAGAGGAV NGRGGGFAPG TEPFPGLFPR 610 620 630 640 650 660 KPAPLPSPGL NSAAKRIKVE KDLELPPAAL IPSENVYSQW LVGYAASRHF MKDPFLGFTD 670 680 690 700 710 720 ARQSPFATSS EHSSENGSLR FSTPPGDLLD GGLSGRSGTA SGGSTPHLGG PGPGRPSSKE 730 740 750 760 770 780 GRRSDTCEYC GKVFKNCSNL TVHRRSHTGE RPYKCELCNY ACAQSSKLTR HMKTHGQIGK 790 800 810 820 EVYRCDICQM PFSVYSTLEK HMKKWHGEHL LTNDVKIEQA ERS

References

	« Hide 'large scale' referencesShow '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: 11719382] [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: 12565905] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Thymus.
[3]	"Phosphorylation analysis of primary human T lymphocytes using sequential IMAC and titanium oxide enrichment." Carrascal M., Ovelleiro D., Casas V., Gay M., Abian J. J. Proteome Res. 7:5167-5176(2008) [PubMed: 19367720] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-772, MASS SPECTROMETRY. Tissue: T-cell.
[4]	"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: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-97; THR-120; SER-256; THR-260; SER-277; THR-313; SER-318; SER-358; THR-376; SER-381; THR-417; SER-483; SER-488; SER-493; SER-496; SER-497; SER-678; THR-754 AND SER-765, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[5]	"Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed: 19608861] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-851, MASS SPECTROMETRY.
[6]	"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. , 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: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] PRO-331.
[7]	"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: 21220648] [Abstract] Cited for: VARIANTS VAL-32 AND SER-229.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ404614 mRNA. Translation: CAC17726.1. AB043584 mRNA. Translation: BAB32731.1.
IPI	IPI00009213. IPI00009646.
RefSeq	NP_075049.1. NM_022898.1. NP_612808.1. NM_138576.2.
UniGene	Hs.709690.
3D structure databases
ProteinModelPortal	Q9C0K0.
SMR	Q9C0K0. Positions 211-244, 396-596, 760-878.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-44025N.
MINT	MINT-4298937.
STRING	Q9C0K0.
PTM databases
PhosphoSite	Q9C0K0.
Polymorphism databases
DMDM	44887723.
Proteomic databases
PRIDE	Q9C0K0.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000357195; ENSP00000349723; ENSG00000127152.
GeneID	64919.
KEGG	hsa:64919.
UCSC	uc001yga.1. human. uc001ygb.1. human.
Organism-specific databases
CTD	64919.
GeneCards	GC14M099635.
H-InvDB	HIX0037643.
HGNC	HGNC:13222. BCL11B.
MIM	606558. gene.
neXtProt	NX_Q9C0K0.
PharmGKB	PA25301.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG13280.
GeneTree	ENSGT00530000063542.
HOGENOM	HBG355234.
HOVERGEN	HBG050673.
InParanoid	Q9C0K0.
OMA	DDDAGGC.
OrthoDB	EOG4CNQQK.
PhylomeDB	Q9C0K0.
Gene expression databases
ArrayExpress	Q9C0K0.
Bgee	Q9C0K0.
CleanEx	HS_BCL11B. HS_RIT1.
Genevestigator	Q9C0K0.
GermOnline	ENSG00000127152. Homo sapiens.
Family and domain databases
InterPro	IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. IPR013087. Znf_C2H2/integrase_DNA-bd. [Graphical view]
Gene3D	G3DSA:3.30.160.60. Znf_C2H2/integrase_DNA-bd. 4 hits.
Pfam	PF00096. zf-C2H2. 5 hits. [Graphical view]
SMART	SM00355. ZnF_C2H2. 6 hits. [Graphical view]
PROSITE	PS00028. ZINC_FINGER_C2H2_1. 6 hits. PS50157. ZINC_FINGER_C2H2_2. 6 hits. [Graphical view]
ProtoNet	Search...
Other
NextBio	67057.
SOURCE	Search...

Entry information

Entry name

BC11B_HUMAN

Accession

Primary (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:	January 25, 2012
This is version 86 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.