Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

B-cell lymphoma/leukemia 11B

Gene

BCL11B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Key regulator of both differentiation and survival of T-lymphocytes during thymocyte development in mammals. Essential in controlling the responsiveness of hematopoietic stem cells to chemotactic signals by modulating the expression of the receptors CCR7 and CCR9, which direct the movement of progenitor cells from the bone marrow to the thymus (PubMed:27959755). Is a regulator of IL2 promoter and enhances IL2 expression in activated CD4+ T-lymphocytes (PubMed:16809611). Tumor-suppressor that represses transcription through direct, TFCOUP2-independent binding to a GC-rich response element (By similarity). May also function in the P53-signaling pathway (By similarity).By similarity2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri221 – 251C2H2-type 1PROSITE-ProRule annotationAdd BLAST31
Zinc fingeri427 – 454C2H2-type 2PROSITE-ProRule annotationAdd BLAST28
Zinc fingeri455 – 482C2H2-type 3PROSITE-ProRule annotationAdd BLAST28
Zinc fingeri796 – 823C2H2-type 4PROSITE-ProRule annotationAdd BLAST28
Zinc fingeri824 – 853C2H2-type 5PROSITE-ProRule annotationAdd BLAST30
Zinc fingeri854 – 884C2H2-type 6PROSITE-ProRule annotationAdd BLAST31

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionRepressor
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9C0K0

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:BCL11B
Synonyms:CTIP2, RIT1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 14

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000127152.17

Human Gene Nomenclature Database

More...
HGNCi
HGNC:13222 BCL11B

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606558 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9C0K0

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Immunodeficiency 49 (IMD49)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of severe combined immunodeficiency characterized by severe T-cell lymphopenia, no detectable T-cell receptor excision circles, no naive helper CD4+ T-cells, and impaired T-cell proliferative response. In addition to primary immunodeficiency, affected individuals manifest multiple abnormal systemic features, including severe delayed psychomotor development, intellectual disability, spastic quadriplegia, and craniofacial abnormalities.
See also OMIM:617237
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_078423441N → K in IMD49; loss of stimulation of T-lymphocyte development; dominant negative loss of activation of IL2 expression; results in reduced binding to known canonical promoters and abnormal binding to novel DNA sites not recognized by the wild-type protein; no effect on interaction with EP300. 1 PublicationCorresponds to variant dbSNP:rs750610248EnsemblClinVar.1
Natural variantiVAR_081175807N → K in IMD49. 1 Publication1
Intellectual developmental disorder with speech delay, dysmorphic facies, and T-cell abnormalities (IDDSFTA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant developmental disorder with onset in first months of life, and characterized by delayed psychomotor development with intellectual disability and speech delay. Additional features include autistic features, attention deficit-hyperactivity disorder, anxiety, and other behavioral abnormalities. Some patients suffer from recurrent infections, asthma and allergies.
See also OMIM:618092
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_081174499 – 894Missing in IDDSFTA. 1 PublicationAdd BLAST396

Keywords - Diseasei

Disease mutation, Mental retardation, SCID

Organism-specific databases

DisGeNET

More...
DisGeNETi
64919

MalaCards human disease database

More...
MalaCardsi
BCL11B
MIMi617237 phenotype
618092 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000127152

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA25301

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
BCL11B

Domain mapping of disease mutations (DMDM)

More...
DMDMi
44887723

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000471041 – 894B-cell lymphoma/leukemia 11BAdd BLAST894

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei97PhosphoserineCombined sources1
Modified residuei110PhosphoserineBy similarity1
Modified residuei120PhosphothreonineCombined sources1
Modified residuei129PhosphoserineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki137Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei256PhosphoserineCombined sources1
Modified residuei260PhosphothreonineCombined sources1
Modified residuei277PhosphoserineCombined sources1
Modified residuei293Omega-N-methylarginineBy similarity1
Modified residuei322Asymmetric dimethylarginineBy similarity1
Modified residuei358PhosphoserineCombined sources1
Modified residuei376PhosphothreonineCombined sources1
Modified residuei381PhosphoserineCombined sources1
Modified residuei398PhosphoserineCombined sources1
Modified residuei401PhosphoserineBy similarity1
Modified residuei406PhosphothreonineBy similarity1
Modified residuei417PhosphothreonineCombined sources1
Modified residuei483PhosphoserineCombined sources1
Modified residuei488PhosphoserineCombined sources1
Modified residuei496PhosphoserineCombined sources1
Modified residuei497PhosphoserineCombined sources1
Cross-linki591Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki617Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei678PhosphoserineCombined sources1
Cross-linki686Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki723Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei754PhosphothreonineBy similarity1
Modified residuei765PhosphoserineCombined sources1
Modified residuei772PhosphoserineBy similarity1
Modified residuei851N6-acetyllysineCombined sources1
Cross-linki887Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Isoform 2 (identifier: Q9C0K0-2)
Cross-linki137Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Sumoylated with SUMO1.By similarity

Keywords - PTMi

Acetylation, Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9C0K0

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9C0K0

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9C0K0

PeptideAtlas

More...
PeptideAtlasi
Q9C0K0

PRoteomics IDEntifications database

More...
PRIDEi
Q9C0K0

ProteomicsDB human proteome resource

More...
ProteomicsDBi
80066
80067 [Q9C0K0-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9C0K0

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9C0K0

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000127152 Expressed in 167 organ(s), highest expression level in forebrain

CleanEx database of gene expression profiles

More...
CleanExi
HS_BCL11B
HS_RIT1

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9C0K0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9C0K0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA049117

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with TFCOUP1, SIRT1, ARP1 and EAR2 (By similarity). Interacts with EP300; the interaction is detected in activated T-lymphocytes, but not under resting conditions (PubMed:27959755).By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
122343, 18 interactors

Database of interacting proteins

More...
DIPi
DIP-44025N

Protein interaction database and analysis system

More...
IntActi
Q9C0K0, 8 interactors

Molecular INTeraction database

More...
MINTi
Q9C0K0

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000349723

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q9C0K0

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9C0K0

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi529 – 553Glu-richAdd BLAST25
Compositional biasi569 – 661Gly-richAdd BLAST93

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri221 – 251C2H2-type 1PROSITE-ProRule annotationAdd BLAST31
Zinc fingeri427 – 454C2H2-type 2PROSITE-ProRule annotationAdd BLAST28
Zinc fingeri455 – 482C2H2-type 3PROSITE-ProRule annotationAdd BLAST28
Zinc fingeri796 – 823C2H2-type 4PROSITE-ProRule annotationAdd BLAST28
Zinc fingeri824 – 853C2H2-type 5PROSITE-ProRule annotationAdd BLAST30
Zinc fingeri854 – 884C2H2-type 6PROSITE-ProRule annotationAdd BLAST31

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1721 Eukaryota
COG5048 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000161060

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000015256

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG050673

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9C0K0

KEGG Orthology (KO)

More...
KOi
K22046

Identification of Orthologs from Complete Genome Data

More...
OMAi
ASRHFIK

Database of Orthologous Groups

More...
OrthoDBi
224109at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9C0K0

TreeFam database of animal gene trees

More...
TreeFami
TF318131

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00096 zf-C2H2, 5 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00355 ZnF_C2H2, 6 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF57667 SSF57667, 3 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 6 hits
PS50157 ZINC_FINGER_C2H2_2, 6 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9C0K0-1) [UniParc]FASTAAdd to basket
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.

« Hide
        10         20         30         40         50
MSRRKQGNPQ HLSQRELITP EADHVEAAIL EEDEGLEIEE PSGLGLMVGG
60 70 80 90 100
PDPDLLTCGQ CQMNFPLGDI LVFIEHKRKQ CGGSLGACYD KALDKDSPPP
110 120 130 140 150
SSRSELRKVS EPVEIGIQVT PDEDDHLLSP TKGICPKQEN IAGPCRPAQL
160 170 180 190 200
PAVAPIAASS HPHSSVITSP LRALGALPPC LPLPCCSARP VSGDGTQGEG
210 220 230 240 250
QTEAPFGCQC QLSGKDEPSS YICTTCKQPF NSAWFLLQHA QNTHGFRIYL
260 270 280 290 300
EPGPASSSLT PRLTIPPPLG PEAVAQSPLM NFLGDSNPFN LLRMTGPILR
310 320 330 340 350
DHPGFGEGRL PGTPPLFSPP PRHHLDPHRL SAEEMGLVAQ HPSAFDRVMR
360 370 380 390 400
LNPMAIDSPA MDFSRRLREL AGNSSTPPPV SPGRGNPMHR LLNPFQPSPK
410 420 430 440 450
SPFLSTPPLP PMPPGGTPPP QPPAKSKSCE FCGKTFKFQS NLIVHRRSHT
460 470 480 490 500
GEKPYKCQLC DHACSQASKL KRHMKTHMHK AGSLAGRSDD GLSAASSPEP
510 520 530 540 550
GTSELAGEGL KAADGDFRHH ESDPSLGHEP EEEDEEEEEE EEELLLENES
560 570 580 590 600
RPESSFSMDS ELSRNRENGG GGVPGVPGAG GGAAKALADE KALVLGKVME
610 620 630 640 650
NVGLGALPQY GELLADKQKR GAFLKRAAGG GDAGDDDDAG GCGDAGAGGA
660 670 680 690 700
VNGRGGGFAP GTEPFPGLFP RKPAPLPSPG LNSAAKRIKV EKDLELPPAA
710 720 730 740 750
LIPSENVYSQ WLVGYAASRH FMKDPFLGFT DARQSPFATS SEHSSENGSL
760 770 780 790 800
RFSTPPGDLL DGGLSGRSGT ASGGSTPHLG GPGPGRPSSK EGRRSDTCEY
810 820 830 840 850
CGKVFKNCSN LTVHRRSHTG ERPYKCELCN YACAQSSKLT RHMKTHGQIG
860 870 880 890
KEVYRCDICQ MPFSVYSTLE KHMKKWHGEH LLTNDVKIEQ AERS
Length:894
Mass (Da):95,519
Last modified:June 1, 2001 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iDF6C467AE2EEC122
GO
Isoform 2 (identifier: Q9C0K0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     143-213: Missing.

Note: May be due to exon skipping.Combined sources
Show »
Length:823
Mass (Da):88,476
Checksum:i589266E55A4C367E
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D3YTK1D3YTK1_HUMAN
B-cell lymphoma/leukemia 11B
BCL11B
700Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06574132E → V in a patient with amyotrophic lateral sclerosis. 1 Publication1
Natural variantiVAR_065742229P → S in a patient with amyotrophic lateral sclerosis. 1 PublicationCorresponds to variant dbSNP:rs749837100Ensembl.1
Natural variantiVAR_035554331S → P in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_078423441N → K in IMD49; loss of stimulation of T-lymphocyte development; dominant negative loss of activation of IL2 expression; results in reduced binding to known canonical promoters and abnormal binding to novel DNA sites not recognized by the wild-type protein; no effect on interaction with EP300. 1 PublicationCorresponds to variant dbSNP:rs750610248EnsemblClinVar.1
Natural variantiVAR_081174499 – 894Missing in IDDSFTA. 1 PublicationAdd BLAST396
Natural variantiVAR_081175807N → K in IMD49. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_009565143 – 213Missing in isoform 2. 1 PublicationAdd BLAST71

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AJ404614 mRNA Translation: CAC17726.1
AB043584 mRNA Translation: BAB32731.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS9949.1 [Q9C0K0-2]
CCDS9950.1 [Q9C0K0-1]

NCBI Reference Sequences

More...
RefSeqi
NP_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]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.709690

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000345514; ENSP00000280435; ENSG00000127152 [Q9C0K0-2]
ENST00000357195; ENSP00000349723; ENSG00000127152 [Q9C0K0-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
64919

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:64919

UCSC genome browser

More...
UCSCi
uc001yga.5 human [Q9C0K0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ404614 mRNA Translation: CAC17726.1
AB043584 mRNA Translation: BAB32731.1
CCDSiCCDS9949.1 [Q9C0K0-2]
CCDS9950.1 [Q9C0K0-1]
RefSeqiNP_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]
UniGeneiHs.709690

3D structure databases

ProteinModelPortaliQ9C0K0
SMRiQ9C0K0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122343, 18 interactors
DIPiDIP-44025N
IntActiQ9C0K0, 8 interactors
MINTiQ9C0K0
STRINGi9606.ENSP00000349723

PTM databases

iPTMnetiQ9C0K0
PhosphoSitePlusiQ9C0K0

Polymorphism and mutation databases

BioMutaiBCL11B
DMDMi44887723

Proteomic databases

jPOSTiQ9C0K0
MaxQBiQ9C0K0
PaxDbiQ9C0K0
PeptideAtlasiQ9C0K0
PRIDEiQ9C0K0
ProteomicsDBi80066
80067 [Q9C0K0-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000345514; ENSP00000280435; ENSG00000127152 [Q9C0K0-2]
ENST00000357195; ENSP00000349723; ENSG00000127152 [Q9C0K0-1]
GeneIDi64919
KEGGihsa:64919
UCSCiuc001yga.5 human [Q9C0K0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
64919
DisGeNETi64919
EuPathDBiHostDB:ENSG00000127152.17

GeneCards: human genes, protein and diseases

More...
GeneCardsi
BCL11B
HGNCiHGNC:13222 BCL11B
HPAiHPA049117
MalaCardsiBCL11B
MIMi606558 gene
617237 phenotype
618092 phenotype
neXtProtiNX_Q9C0K0
OpenTargetsiENSG00000127152
PharmGKBiPA25301

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00940000161060
HOGENOMiHOG000015256
HOVERGENiHBG050673
InParanoidiQ9C0K0
KOiK22046
OMAiASRHFIK
OrthoDBi224109at2759
PhylomeDBiQ9C0K0
TreeFamiTF318131

Enzyme and pathway databases

SIGNORiQ9C0K0

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
BCL11B human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
BCL11B

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
64919

Protein Ontology

More...
PROi
PR:Q9C0K0

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000127152 Expressed in 167 organ(s), highest expression level in forebrain
CleanExiHS_BCL11B
HS_RIT1
ExpressionAtlasiQ9C0K0 baseline and differential
GenevisibleiQ9C0K0 HS

Family and domain databases

InterProiView protein in InterPro
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PfamiView protein in Pfam
PF00096 zf-C2H2, 5 hits
SMARTiView protein in SMART
SM00355 ZnF_C2H2, 6 hits
SUPFAMiSSF57667 SSF57667, 3 hits
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 6 hits
PS50157 ZINC_FINGER_C2H2_2, 6 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiBC11B_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9C0K0
Secondary accession number(s): Q9H162
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: June 1, 2001
Last modified: January 16, 2019
This is version 151 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again