Reviewed, UniProtKB/Swiss-Prot Q9C0K0 (BC11B_HUMAN)

Names and origin

Protein names

Recommended name:
    B-cell lymphoma/leukemia 11B
Alternative name(s):
    B-cell CLL/lymphoma 11B
    Radiation-induced tumor suppressor gene 1 protein
      Short name(s)=hRit1
    COUP-TF-interacting protein 2

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.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript 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	NucleusPotential.
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
Gene Ontology (GO)
None. [Check GOA]

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.

Notes: May be due to exon skipping.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view
Molecule processing
	Chain	1 – 894	894	B-cell lymphoma/leukemia 11B
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
Natural variations
	Alternative sequence	143 – 213	71	Missing in isoform 2.
	Natural variant	331	1	S → P in a colorectal cancer sample; somatic mutation.

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		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]	"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.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBLGenBankDDBJ	AJ404614 mRNA. Translation: CAC17726.1. AB043584 mRNA. Translation: BAB32731.1.
RefSeq	NP_075049.1. NP_612808.1.
UniGene	Hs.699440
3D structure databases
HSSP	HSSP built from PDB template 1BBO based on UniProtKB P15822.
ModBase	Search...
PTM databases
PhosphoSite	Q9C0K0.
Genome annotation databases
Ensembl	ENSG00000127152. Homo sapiens. [Contig view]
GeneID	64919.
KEGG	hsa:64919.
Organism-specific databases
H-InvDB	HIX0037643.
HGNC	HGNC:13222. BCL11B.
MIM	606558. gene.
PharmGKB	PA25301.
GenAtlas	Search...
GeneCards	Search...
GeneLynx	Search...
Phylogenomic databases
HOGENOM	Q9C0K0.
HOVERGEN	Q9C0K0.
Gene expression databases
ArrayExpress	Q9C0K0.
CleanEx	HS_BCL11B. HS_RIT1.
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. 2 hits.
Pfam	PF00096. zf-C2H2. 5 hits. [Graphical view]
ProDom	PD000003. Znf_C2H2. 1 hit. [Graphical view] [Entries sharing at least one domain]
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]
BLOCKS	Search...
Other Resources
SOURCE	Search...
ProtoNet	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:	July 22, 2008
This is version 52 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)