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Q9H165 (BC11A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 123. 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·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length835 AA.
Sequence statusComplete.
Protein existenceEvidence 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 processTranscription
Transcription regulation
   Cellular componentCytoplasm
Nucleus
   Coding sequence diversityAlternative splicing
Chromosomal rearrangement
Polymorphism
   DomainRepeat
Zinc-finger
   LigandMetal-binding
Zinc
   Molecular functionRepressor
   PTMIsopeptide bond
Phosphoprotein
Ubl conjugation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processB cell differentiation

Inferred from electronic annotation. Source: Ensembl

T cell differentiation

Inferred from electronic annotation. Source: Ensembl

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: Ensembl

negative regulation of neuron projection development

Inferred from direct assay PubMed 19616629. Source: BHF-UCL

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-templated

Inferred from electronic annotation. Source: UniProtKB-KW

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

nucleus

Inferred from direct assay PubMed 19616629. Source: BHF-UCL

   Molecular_functionmetal ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

nucleic acid binding

Inferred from electronic annotation. Source: InterPro

protein heterodimerization activity

Inferred from physical interaction PubMed 19616629PubMed 19616629. Source: BHF-UCL

protein homodimerization activity

Traceable author statement PubMed 19616629. Source: BHF-UCL

transcription corepressor activity

Inferred from electronic annotation. Source: Ensembl

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 835835B-cell lymphoma/leukemia 11A
PRO_0000047102

Regions

Zinc finger170 – 19324C2H2-type 1
Zinc finger377 – 39923C2H2-type 2
Zinc finger405 – 42925C2H2-type 3
Zinc finger742 – 76423C2H2-type 4
Zinc finger770 – 79223C2H2-type 5
Zinc finger800 – 82324C2H2-type 6
Region1 – 210210Required for nuclear body formation and for SUMO1 recruitment By similarity
Compositional bias260 – 373114Pro-rich
Compositional bias481 – 50929Glu-rich

Amino acid modifications

Modified residue2051Phosphoserine Ref.9
Modified residue3321Phosphoserine Ref.10
Modified residue6081Phosphoserine Ref.9
Modified residue6251Phosphoserine Ref.10
Modified residue6301Phosphoserine Ref.10
Modified residue7011Phosphothreonine Ref.10
Cross-link634Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO-1) By similarity

Natural variations

Alternative sequence11M → MSKGTDEDIFSGVSFFLTRL SRCEPSRRPPAPQPT in isoform 4 and isoform 5.
VSP_009547
Alternative sequence129 – 16335DKLLH…PQGIC → G in isoform 6.
VSP_009548
Alternative sequence211 – 23929VGIPS…NNPFN → CSSHTPIRRSTQRAQDVWQF SDGSRALKF in isoform 5.
VSP_009549
Alternative sequence212 – 24332GIPSG…NLLRI → LHTPPFGVVPRELKMCGSFR MEAREPLSSEKI in isoform 3.
VSP_009550
Alternative sequence240 – 835596Missing in isoform 5.
VSP_009551
Alternative sequence244 – 835592Missing in isoform 3.
VSP_009552
Alternative sequence522 – 53211Missing in isoform 4.
VSP_009553
Alternative sequence745 – 77329EYCGK…PYKCE → SSHTPIRRSTQRAQDVWQFS DGSSRALKF in isoform 2 and isoform 4.
VSP_009554
Alternative sequence774 – 83562Missing in isoform 2 and isoform 4.
VSP_009555
Natural variant1421S → F in a breast cancer sample; somatic mutation. Ref.11
VAR_035553

Experimental info

Sequence conflict1191G → R in CAC17723. Ref.2
Sequence conflict1191G → R in CAC17724. Ref.2
Sequence conflict1191G → R in CAC17725. Ref.2
Sequence conflict3161S → F in AAG49025. Ref.1
Sequence conflict3861F → L in AAG49025. Ref.1
Sequence conflict6481A → T in CAC17723. Ref.2
Sequence conflict6481A → T in CAC17724. Ref.2
Sequence conflict6531E → D in AAG49025. Ref.1
Sequence conflict7301P → T in CAC17723. Ref.2
Sequence conflict7301P → T in CAC17724. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (BCL11A-XL) (BCL11A extra long form) [UniParc].

Last modified March 1, 2004. Version 2.
Checksum: D36A7D0BE6976DCF

FASTA83591,197
        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 

« Hide

Isoform 2 (BCL11A-L) (BCL11A long form) [UniParc].

Checksum: 251E8A1F3EB87956
Show »

FASTA77383,860
Isoform 3 (BCL11A-S) (BCL11A short form) [UniParc].

Checksum: 5B24FE61F3831226
Show »

FASTA24326,866
Isoform 4 [UniParc].

Checksum: DE7726EEECF40070
Show »

FASTA79686,419
Isoform 5 [UniParc].

Checksum: 901EB02453006AF7
Show »

FASTA27330,251
Isoform 6 [UniParc].

Checksum: 3DFB3B3A0798B567
Show »

FASTA80187,554

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[10]"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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[11]"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] PHE-142.
[12]"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.

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.
CCDSCCDS1861.1. [Q9H165-2]
CCDS1862.1. [Q9H165-1]
CCDS46295.1. [Q9H165-3]
RefSeqNP_060484.2. NM_018014.3. [Q9H165-2]
NP_075044.2. NM_022893.3. [Q9H165-1]
NP_612569.1. NM_138559.1. [Q9H165-3]
UniGeneHs.370549.

3D structure databases

ProteinModelPortalQ9H165.
SMRQ9H165. Positions 165-202, 338-460, 706-827.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119737. 22 interactions.
IntActQ9H165. 9 interactions.
STRING9606.ENSP00000338774.

PTM databases

PhosphoSiteQ9H165.

Polymorphism databases

DMDM44887724.

Proteomic databases

MaxQBQ9H165.
PaxDbQ9H165.
PRIDEQ9H165.

Protocols and materials databases

DNASU53335.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000335712; ENSP00000338774; ENSG00000119866. [Q9H165-1]
ENST00000356842; ENSP00000349300; ENSG00000119866. [Q9H165-2]
ENST00000358510; ENSP00000351307; ENSG00000119866. [Q9H165-6]
ENST00000359629; ENSP00000352648; ENSG00000119866. [Q9H165-3]
GeneID53335.
KEGGhsa:53335.
UCSCuc002sac.3. human. [Q9H165-3]
uc002sad.1. human. [Q9H165-1]
uc002saf.1. human. [Q9H165-6]

Organism-specific databases

CTD53335.
GeneCardsGC02M060678.
HGNCHGNC:13221. BCL11A.
HPACAB014891.
HPA029003.
MIM142335. phenotype.
606557. gene.
neXtProtNX_Q9H165.
Orphanet46532. Hereditary persistence of fetal hemoglobin - beta-thalassemia.
PharmGKBPA25300.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG271772.
HOVERGENHBG050673.
InParanoidQ9H165.
OMAMIPENGD.
OrthoDBEOG7MH0XP.
PhylomeDBQ9H165.
TreeFamTF318131.

Gene expression databases

ArrayExpressQ9H165.
BgeeQ9H165.
CleanExHS_BCL11A.
GenevestigatorQ9H165.

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

ChiTaRSBCL11A. human.
GeneWikiBCL11A.
GenomeRNAi53335.
NextBio55950.
PROQ9H165.
SOURCESearch...

Entry information

Entry nameBC11A_HUMAN
AccessionPrimary (citable) accession number: Q9H165
Secondary accession number(s): D6W5D7 expand/collapse secondary AC list , 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: July 9, 2014
This is version 123 of the entry and version 2 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 2

Human chromosome 2: entries, gene names and cross-references to MIM