Q9H165 (BC11A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
B-cell lymphoma/leukemia 11A
Short name=BCL-11A

Alternative name(s):
B-cell CLL/lymphoma 11A
COUP-TF-interacting protein 1
Ecotropic viral integration site 9 protein homolog
Short name=EVI-9
Zinc finger protein 856

Gene names

Name:	BCL11A
Synonyms:	CTIP1, EVI9, KIAA1809, ZNF856

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	835 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Functions as a myeloid and B-cell proto-oncogene. May play important roles in leukemogenesis and hematopoiesis. An essential factor in lymphopoiesis, is required for B-cell formation in fetal liver. May function as a modulator of the transcriptional repression activity of ARP1 By similarity.
Subunit structure	Interacts with TFCOUP1, PIAS3, ARP1 and EAR2 By similarity.
Subcellular location	Cytoplasm. Nucleus. Note: Associates with the nuclear body. Colocalizes with SUMO1 and SENP2 in nuclear speckles By similarity. Ref.1
Tissue specificity	Expressed at high levels in brain, spleen thymus, bone marrow and testis. Expressed in CD34-positive myeloid precursor cells, B-cells, monocytes and megakaryocytes. Expression is tightly regulated during B-cell development. Ref.1 Ref.2
Post-translational modification	Sumoylated with SUMO1 By similarity.
Polymorphism	Genetic variation in BCL11A underlies the fetal hemoglobin quantitative trait locus 5 [MIM:142335]. It is associated with quantitative variation in the production of F cells, that is erythrocytes containing measurable amounts of fetal hemoglobin (HbF). In healthy adults, HbF is present at residual levels (less than 0.6% of total hemoglobin) with over twenty-fold variation. Ten to fifteen percent of adults in the upper tail of the distribution have HbF levels between 0.8% and 5.0%, a condition referred to as heterocellular hereditary persistence of fetal hemoglobin (hHPFH). Although these HbF levels are modest in otherwise healthy individuals, interaction of hHPFH with beta thalassemia or sickle cell disease can increase HbF output in these individuals to levels that are clinically beneficial.
Involvement in disease	Chromosomal aberrations involving BCL11A may be a cause of lymphoid malignancies. Translocation t(2;14)(p13;q32.3) causes BCL11A deregulation and amplification.
Sequence similarities	Contains 6 C2H2-type zinc fingers.
Sequence caution	The sequence BAB47438.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Alternative splicing Chromosomal rearrangement Polymorphism
Domain	Repeat Zinc-finger
Ligand	Metal-binding Zinc
Molecular function	Repressor
PTM	Isopeptide bond Phosphoprotein Ubl conjugation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	B cell differentiation Inferred from electronic annotation. Source: Compara T cell differentiation Inferred from electronic annotation. Source: Compara hemopoiesis Non-traceable author statement. Source: UniProtKB negative regulation of axon extension Inferred from sequence or structural similarity PubMed 19616629. Source: BHF-UCL negative regulation of collateral sprouting Inferred from mutant phenotype PubMed 19616629. Source: BHF-UCL negative regulation of dendrite development Inferred from mutant phenotype PubMed 19616629. Source: BHF-UCL negative regulation of gene expression Inferred from electronic annotation. Source: Compara negative regulation of protein homooligomerization Inferred by curator PubMed 19616629. Source: BHF-UCL positive regulation of collateral sprouting Inferred from mutant phenotype PubMed 19616629. Source: BHF-UCL positive regulation of neuron projection development Inferred from direct assay PubMed 19616629. Source: BHF-UCL positive regulation of transcription from RNA polymerase II promoter Inferred from sequence or structural similarity PubMed 19616629. Source: BHF-UCL protein sumoylation Inferred from sequence or structural similarity. Source: UniProtKB regulation of dendrite development Inferred from mutant phenotype PubMed 19616629. Source: BHF-UCL regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	cytoplasm Inferred from sequence or structural similarity PubMed 19616629. Source: BHF-UCL nucleus Inferred from direct assay PubMed 19616629. Source: BHF-UCL
Molecular_function	nucleic acid binding Inferred from electronic annotation. Source: InterPro protein homodimerization activity Traceable author statement PubMed 19616629. Source: BHF-UCL transcription corepressor activity Inferred from electronic annotation. Source: Compara zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9H165-1)

Also known as: BCL11A-XL; BCL11A extra long form;

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: Q9H165-2)

Also known as: BCL11A-L; BCL11A long form;

The sequence of this isoform differs from the canonical sequence as follows:
     745-773: EYCGKVFKNCSNLTVHRRSHTGERPYKCE → SSHTPIRRSTQRAQDVWQFSDGSSRALKF
     774-835: Missing.

Isoform 3 (identifier: Q9H165-3)

Also known as: BCL11A-S; BCL11A short form;

The sequence of this isoform differs from the canonical sequence as follows:
     212-243: GIPSGLGAECPSQPPLHGIHIADNNPFNLLRI → LHTPPFGVVPRELKMCGSFRMEAREPLSSEKI
     244-835: Missing.

Isoform 4 (identifier: Q9H165-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MSKGTDEDIFSGVSFFLTRLSRCEPSRRPPAPQPT
     522-532: Missing.
     745-773: EYCGKVFKNCSNLTVHRRSHTGERPYKCE → SSHTPIRRSTQRAQDVWQFSDGSSRALKF
     774-835: Missing.

Isoform 5 (identifier: Q9H165-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MSKGTDEDIFSGVSFFLTRLSRCEPSRRPPAPQPT
     211-239: VGIPSGLGAECPSQPPLHGIHIADNNPFN → CSSHTPIRRSTQRAQDVWQFSDGSRALKF
     240-835: Missing.

Isoform 6 (identifier: Q9H165-6)

The sequence of this isoform differs from the canonical sequence as follows:
     129-163: DKLLHWRGLSSPRSAHGALIPTPGMSAEYAPQGIC → G

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 835	835	B-cell lymphoma/leukemia 11A		PRO_0000047102
Regions
	Zinc finger	170 – 193	24	C2H2-type 1
	Zinc finger	377 – 399	23	C2H2-type 2
	Zinc finger	405 – 429	25	C2H2-type 3
	Zinc finger	742 – 764	23	C2H2-type 4
	Zinc finger	770 – 792	23	C2H2-type 5
	Zinc finger	800 – 823	24	C2H2-type 6
	Region	1 – 210	210	Required for nuclear body formation and for SUMO1 recruitment By similarity
	Compositional bias	260 – 373	114	Pro-rich
	Compositional bias	481 – 509	29	Glu-rich
Amino acid modifications
	Modified residue	205	1	Phosphoserine Ref.8
	Modified residue	332	1	Phosphoserine Ref.9
	Modified residue	608	1	Phosphoserine Ref.8
	Modified residue	625	1	Phosphoserine Ref.9
	Modified residue	630	1	Phosphoserine Ref.9
	Modified residue	701	1	Phosphothreonine Ref.9
	Cross-link	634		Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO-1) By similarity
Natural variations
	Alternative sequence	1	1	M → MSKGTDEDIFSGVSFFLTRL SRCEPSRRPPAPQPT in isoform 4 and isoform 5.		VSP_009547
	Alternative sequence	129 – 163	35	DKLLH…PQGIC → G in isoform 6.		VSP_009548
	Alternative sequence	211 – 239	29	VGIPS…NNPFN → CSSHTPIRRSTQRAQDVWQF SDGSRALKF in isoform 5.		VSP_009549
	Alternative sequence	212 – 243	32	GIPSG…NLLRI → LHTPPFGVVPRELKMCGSFR MEAREPLSSEKI in isoform 3.		VSP_009550
	Alternative sequence	240 – 835	596	Missing in isoform 5.		VSP_009551
	Alternative sequence	244 – 835	592	Missing in isoform 3.		VSP_009552
	Alternative sequence	522 – 532	11	Missing in isoform 4.		VSP_009553
	Alternative sequence	745 – 773	29	EYCGK…PYKCE → SSHTPIRRSTQRAQDVWQFS DGSSRALKF in isoform 2 and isoform 4.		VSP_009554
	Alternative sequence	774 – 835	62	Missing in isoform 2 and isoform 4.		VSP_009555
	Natural variant	142	1	S → F in a breast cancer sample; somatic mutation. Ref.10		VAR_035553
Experimental info
	Sequence conflict	119	1	G → R in CAC17723. Ref.2
	Sequence conflict	119	1	G → R in CAC17724. Ref.2
	Sequence conflict	119	1	G → R in CAC17725. Ref.2
	Sequence conflict	316	1	S → F in AAG49025. Ref.1
	Sequence conflict	386	1	F → L in AAG49025. Ref.1
	Sequence conflict	648	1	A → T in CAC17723. Ref.2
	Sequence conflict	648	1	A → T in CAC17724. Ref.2
	Sequence conflict	653	1	E → D in AAG49025. Ref.1
	Sequence conflict	730	1	P → T in CAC17723. Ref.2
	Sequence conflict	730	1	P → T in CAC17724. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (BCL11A-XL) (BCL11A extra long form) [UniParc]. Last modified March 1, 2004. Version 2. Checksum: D36A7D0BE6976DCF	FASTA	835	91,197
	10 20 30 40 50 60 MSRRKQGKPQ HLSKREFSPE PLEAILTDDE PDHGPLGAPE GDHDLLTCGQ CQMNFPLGDI 70 80 90 100 110 120 LIFIEHKRKQ CNGSLCLEKA VDKPPSPSPI EMKKASNPVE VGIQVTPEDD DCLSTSSRGI 130 140 150 160 170 180 CPKQEHIADK LLHWRGLSSP RSAHGALIPT PGMSAEYAPQ GICKDEPSSY TCTTCKQPFT 190 200 210 220 230 240 SAWFLLQHAQ NTHGLRIYLE SEHGSPLTPR VGIPSGLGAE CPSQPPLHGI HIADNNPFNL 250 260 270 280 290 300 LRIPGSVSRE ASGLAEGRFP PTPPLFSPPP RHHLDPHRIE RLGAEEMALA THHPSAFDRV 310 320 330 340 350 360 LRLNPMAMEP PAMDFSRRLR ELAGNTSSPP LSPGRPSPMQ RLLQPFQPGS KPPFLATPPL 370 380 390 400 410 420 PPLQSAPPPS QPPVKSKSCE FCGKTFKFQS NLVVHRRSHT GEKPYKCNLC DHACTQASKL 430 440 450 460 470 480 KRHMKTHMHK SSPMTVKSDD GLSTASSPEP GTSDLVGSAS SALKSVVAKF KSENDPNLIP 490 500 510 520 530 540 ENGDEEEEED DEEEEEEEEE EEEELTESER VDYGFGLSLE AARHHENSSR GAVVGVGDES 550 560 570 580 590 600 RALPDVMQGM VLSSMQHFSE AFHQVLGEKH KRGHLAEAEG HRDTCDEDSV AGESDRIDDG 610 620 630 640 650 660 TVNGRGCSPG ESASGGLSKK LLLGSPSSLS PFSKRIKLEK EFDLPPAAMP NTENVYSQWL 670 680 690 700 710 720 AGYAASRQLK DPFLSFGDSR QSPFASSSEH SSENGSLRFS TPPGELDGGI SGRSGTGSGG 730 740 750 760 770 780 STPHISGPGP GRPSSKEGRR SDTCEYCGKV FKNCSNLTVH RRSHTGERPY KCELCNYACA 790 800 810 820 830 QSSKLTRHMK THGQVGKDVY KCEICKMPFS VYSTLEKHMK KWHSDRVLNN DIKTE
	Isoform 2 (BCL11A-L) (BCL11A long form) [UniParc]. Checksum: 251E8A1F3EB87956	FASTA	773	83,860
	10 20 30 40 50 60 MSRRKQGKPQ HLSKREFSPE PLEAILTDDE PDHGPLGAPE GDHDLLTCGQ CQMNFPLGDI 70 80 90 100 110 120 LIFIEHKRKQ CNGSLCLEKA VDKPPSPSPI EMKKASNPVE VGIQVTPEDD DCLSTSSRGI 130 140 150 160 170 180 CPKQEHIADK LLHWRGLSSP RSAHGALIPT PGMSAEYAPQ GICKDEPSSY TCTTCKQPFT 190 200 210 220 230 240 SAWFLLQHAQ NTHGLRIYLE SEHGSPLTPR VGIPSGLGAE CPSQPPLHGI HIADNNPFNL 250 260 270 280 290 300 LRIPGSVSRE ASGLAEGRFP PTPPLFSPPP RHHLDPHRIE RLGAEEMALA THHPSAFDRV 310 320 330 340 350 360 LRLNPMAMEP PAMDFSRRLR ELAGNTSSPP LSPGRPSPMQ RLLQPFQPGS KPPFLATPPL 370 380 390 400 410 420 PPLQSAPPPS QPPVKSKSCE FCGKTFKFQS NLVVHRRSHT GEKPYKCNLC DHACTQASKL 430 440 450 460 470 480 KRHMKTHMHK SSPMTVKSDD GLSTASSPEP GTSDLVGSAS SALKSVVAKF KSENDPNLIP 490 500 510 520 530 540 ENGDEEEEED DEEEEEEEEE EEEELTESER VDYGFGLSLE AARHHENSSR GAVVGVGDES 550 560 570 580 590 600 RALPDVMQGM VLSSMQHFSE AFHQVLGEKH KRGHLAEAEG HRDTCDEDSV AGESDRIDDG 610 620 630 640 650 660 TVNGRGCSPG ESASGGLSKK LLLGSPSSLS PFSKRIKLEK EFDLPPAAMP NTENVYSQWL 670 680 690 700 710 720 AGYAASRQLK DPFLSFGDSR QSPFASSSEH SSENGSLRFS TPPGELDGGI SGRSGTGSGG 730 740 750 760 770 STPHISGPGP GRPSSKEGRR SDTCSSHTPI RRSTQRAQDV WQFSDGSSRA LKF
	Isoform 3 (BCL11A-S) (BCL11A short form) [UniParc]. Checksum: 5B24FE61F3831226	FASTA	243	26,866
	10 20 30 40 50 60 MSRRKQGKPQ HLSKREFSPE PLEAILTDDE PDHGPLGAPE GDHDLLTCGQ CQMNFPLGDI 70 80 90 100 110 120 LIFIEHKRKQ CNGSLCLEKA VDKPPSPSPI EMKKASNPVE VGIQVTPEDD DCLSTSSRGI 130 140 150 160 170 180 CPKQEHIADK LLHWRGLSSP RSAHGALIPT PGMSAEYAPQ GICKDEPSSY TCTTCKQPFT 190 200 210 220 230 240 SAWFLLQHAQ NTHGLRIYLE SEHGSPLTPR VLHTPPFGVV PRELKMCGSF RMEAREPLSS EKI
	Isoform 4 [UniParc]. Checksum: DE7726EEECF40070	FASTA	796	86,419
	10 20 30 40 50 60 MSKGTDEDIF SGVSFFLTRL SRCEPSRRPP APQPTSRRKQ GKPQHLSKRE FSPEPLEAIL 70 80 90 100 110 120 TDDEPDHGPL GAPEGDHDLL TCGQCQMNFP LGDILIFIEH KRKQCNGSLC LEKAVDKPPS 130 140 150 160 170 180 PSPIEMKKAS NPVEVGIQVT PEDDDCLSTS SRGICPKQEH IADKLLHWRG LSSPRSAHGA 190 200 210 220 230 240 LIPTPGMSAE YAPQGICKDE PSSYTCTTCK QPFTSAWFLL QHAQNTHGLR IYLESEHGSP 250 260 270 280 290 300 LTPRVGIPSG LGAECPSQPP LHGIHIADNN PFNLLRIPGS VSREASGLAE GRFPPTPPLF 310 320 330 340 350 360 SPPPRHHLDP HRIERLGAEE MALATHHPSA FDRVLRLNPM AMEPPAMDFS RRLRELAGNT 370 380 390 400 410 420 SSPPLSPGRP SPMQRLLQPF QPGSKPPFLA TPPLPPLQSA PPPSQPPVKS KSCEFCGKTF 430 440 450 460 470 480 KFQSNLVVHR RSHTGEKPYK CNLCDHACTQ ASKLKRHMKT HMHKSSPMTV KSDDGLSTAS 490 500 510 520 530 540 SPEPGTSDLV GSASSALKSV VAKFKSENDP NLIPENGDEE EEEDDEEEEE EEEEEEEELT 550 560 570 580 590 600 ESERVDYGFG LSLEAVVGVG DESRALPDVM QGMVLSSMQH FSEAFHQVLG EKHKRGHLAE 610 620 630 640 650 660 AEGHRDTCDE DSVAGESDRI DDGTVNGRGC SPGESASGGL SKKLLLGSPS SLSPFSKRIK 670 680 690 700 710 720 LEKEFDLPPA AMPNTENVYS QWLAGYAASR QLKDPFLSFG DSRQSPFASS SEHSSENGSL 730 740 750 760 770 780 RFSTPPGELD GGISGRSGTG SGGSTPHISG PGPGRPSSKE GRRSDTCSSH TPIRRSTQRA 790 QDVWQFSDGS SRALKF
	Isoform 5 [UniParc]. Checksum: 901EB02453006AF7	FASTA	273	30,251
	10 20 30 40 50 60 MSKGTDEDIF SGVSFFLTRL SRCEPSRRPP APQPTSRRKQ GKPQHLSKRE FSPEPLEAIL 70 80 90 100 110 120 TDDEPDHGPL GAPEGDHDLL TCGQCQMNFP LGDILIFIEH KRKQCNGSLC LEKAVDKPPS 130 140 150 160 170 180 PSPIEMKKAS NPVEVGIQVT PEDDDCLSTS SRGICPKQEH IADKLLHWRG LSSPRSAHGA 190 200 210 220 230 240 LIPTPGMSAE YAPQGICKDE PSSYTCTTCK QPFTSAWFLL QHAQNTHGLR IYLESEHGSP 250 260 270 LTPRCSSHTP IRRSTQRAQD VWQFSDGSRA LKF
	Isoform 6 [UniParc]. Checksum: 3DFB3B3A0798B567	FASTA	801	87,554
	10 20 30 40 50 60 MSRRKQGKPQ HLSKREFSPE PLEAILTDDE PDHGPLGAPE GDHDLLTCGQ CQMNFPLGDI 70 80 90 100 110 120 LIFIEHKRKQ CNGSLCLEKA VDKPPSPSPI EMKKASNPVE VGIQVTPEDD DCLSTSSRGI 130 140 150 160 170 180 CPKQEHIAGK DEPSSYTCTT CKQPFTSAWF LLQHAQNTHG LRIYLESEHG SPLTPRVGIP 190 200 210 220 230 240 SGLGAECPSQ PPLHGIHIAD NNPFNLLRIP GSVSREASGL AEGRFPPTPP LFSPPPRHHL 250 260 270 280 290 300 DPHRIERLGA EEMALATHHP SAFDRVLRLN PMAMEPPAMD FSRRLRELAG NTSSPPLSPG 310 320 330 340 350 360 RPSPMQRLLQ PFQPGSKPPF LATPPLPPLQ SAPPPSQPPV KSKSCEFCGK TFKFQSNLVV 370 380 390 400 410 420 HRRSHTGEKP YKCNLCDHAC TQASKLKRHM KTHMHKSSPM TVKSDDGLST ASSPEPGTSD 430 440 450 460 470 480 LVGSASSALK SVVAKFKSEN DPNLIPENGD EEEEEDDEEE EEEEEEEEEE LTESERVDYG 490 500 510 520 530 540 FGLSLEAARH HENSSRGAVV GVGDESRALP DVMQGMVLSS MQHFSEAFHQ VLGEKHKRGH 550 560 570 580 590 600 LAEAEGHRDT CDEDSVAGES DRIDDGTVNG RGCSPGESAS GGLSKKLLLG SPSSLSPFSK 610 620 630 640 650 660 RIKLEKEFDL PPAAMPNTEN VYSQWLAGYA ASRQLKDPFL SFGDSRQSPF ASSSEHSSEN 670 680 690 700 710 720 GSLRFSTPPG ELDGGISGRS GTGSGGSTPH ISGPGPGRPS SKEGRRSDTC EYCGKVFKNC 730 740 750 760 770 780 SNLTVHRRSH TGERPYKCEL CNYACAQSSK LTRHMKTHGQ VGKDVYKCEI CKMPFSVYST 790 800 LEKHMKKWHS DRVLNNDIKT E

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Human EVI9, a homologue of the mouse myeloid leukemia gene, is expressed in the hematopoietic progenitors and down-regulated during myeloid differentiation of HL60 cells." Saiki Y., Yamazaki Y., Yoshida M., Katoh O., Nakamura T. Genomics 70:387-391(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4 AND 5), SUBCELLULAR LOCATION, TISSUE SPECIFICITY. Tissue: Fetal brain.
[2]	"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] (ISOFORMS 1; 2 AND 3), TISSUE SPECIFICITY.
[3]	"Identification of a new isoform for B-cell CLL/lymphoma 11A (BCL11A) gene." Suriyapperuma S.P., Sarfarazi M. Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 6).
[4]	"Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O. DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain.
[5]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Lymph.
[7]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 636-835. Tissue: Embryo.
[8]	"Large-scale proteomics analysis of the human kinome." Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H. Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-205 AND SER-608, MASS SPECTROMETRY.
[9]	"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-332; SER-625; SER-630 AND THR-701, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[10]	"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] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] PHE-142.
[11]	"A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15." Menzel S., Garner C., Gut I., Matsuda F., Yamaguchi M., Heath S., Foglio M., Zelenika D., Boland A., Rooks H., Best S., Spector T.D., Farrall M., Lathrop M., Thein S.L. Nat. Genet. 39:1197-1199(2007) [PubMed] [Europe PMC] [Abstract] Cited for: POLYMORPHISM, ASSOCIATION WITH FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF080216 mRNA. Translation: AAG49025.1. AJ404611 mRNA. Translation: CAC17723.1. AJ404612 mRNA. Translation: CAC17724.1. AJ404613 mRNA. Translation: CAC17725.1. AY228763 mRNA. Translation: AAO88272.1. AB058712 mRNA. Translation: BAB47438.1. Different initiation. CH471053 Genomic DNA. Translation: EAX00035.1. CH471053 Genomic DNA. Translation: EAX00040.1. CH471053 Genomic DNA. Translation: EAX00041.1. BC021098 mRNA. Translation: AAH21098.1. AK001035 mRNA. No translation available.
IPI	IPI00300332. IPI00400867. IPI00400868. IPI00400869. IPI00400870. IPI00400871.
RefSeq	NP_060484.2. NM_018014.3. NP_075044.2. NM_022893.3. NP_612569.1. NM_138559.1.
UniGene	Hs.370549.
3D structure databases
ProteinModelPortal	Q9H165.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9H165. 7 interactions.
STRING	9606.ENSP00000338774.
PTM databases
PhosphoSite	Q9H165.
Polymorphism databases
DMDM	44887724.
Proteomic databases
PaxDb	Q9H165.
PRIDE	Q9H165.
Protocols and materials databases
DNASU	53335.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000335712; ENSP00000338774; ENSG00000119866. ENST00000356842; ENSP00000349300; ENSG00000119866. ENST00000358510; ENSP00000351307; ENSG00000119866. ENST00000359629; ENSP00000352648; ENSG00000119866.
GeneID	53335.
KEGG	hsa:53335.
UCSC	uc002sac.3. human. uc002sad.1. human. uc002saf.1. human.
Organism-specific databases
CTD	53335.
GeneCards	GC02M060678.
HGNC	HGNC:13221. BCL11A.
HPA	CAB014891.
MIM	142335. phenotype. 606557. gene.
neXtProt	NX_Q9H165.
Orphanet	46532. Hereditary persistence of fetal hemoglobin - beta-thalassemia.
PharmGKB	PA25300.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG271772.
HOVERGEN	HBG050673.
InParanoid	Q9H165.
OMA	GEGRFPP.
OrthoDB	EOG45DWQ2.
Gene expression databases
ArrayExpress	Q9H165.
Bgee	Q9H165.
CleanEx	HS_BCL11A.
Genevestigator	Q9H165.
GermOnline	ENSG00000119866. Homo sapiens.
Family and domain databases
Gene3D	3.30.160.60. 4 hits.
InterPro	IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. IPR013087. Znf_C2H2/integrase_DNA-bd. [Graphical view]
Pfam	PF00096. zf-C2H2. 1 hit. [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
ChiTaRS	BCL11A. human.
GenomeRNAi	53335.
NextBio	55950.
SOURCE	Search...

Entry information

Entry name

BC11A_HUMAN

Accession

Primary (citable) accession number: Q9H165
Secondary accession number(s): D6W5D7 , Q86W14, Q8WU92, Q96JL6, Q9H163, Q9H164, Q9H3G9, Q9NWA7

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 1, 2004
Last sequence update:	March 1, 2004
Last modified:	May 1, 2013
This is version 112 of the entry and version 2 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.