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Protein

B-cell lymphoma/leukemia 11A

Gene

BCL11A

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

Transcription factor associated with the BAF SWI/SNF chromatin remodeling complex (By similarity). Repressor of fetal hemoglobin (HbF) level (PubMed:26375765). Involved in brain development (PubMed:27453576). Functions as a myeloid and B-cell proto-oncogene. May play important roles in leukemogenesis and hematopoiesis. Essential factor in lymphopoiesis required for B-cell formation in fetal liver. May function as a modulator of the transcriptional repression activity of ARP1 (By similarity).2 PublicationsBy similarity

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 fingeri170 – 193C2H2-type 1PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri377 – 399C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri405 – 429C2H2-type 3PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri742 – 764C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri770 – 792C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri800 – 823C2H2-type 6PROSITE-ProRule annotationAdd BLAST24

<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
Q9H165

<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 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
<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:BCL11A
Synonyms:CTIP1, EVI9, KIAA1809, ZNF856
<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 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000119866.20

Human Gene Nomenclature Database

More...
HGNCi
HGNC:13221 BCL11A

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606557 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9H165

<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

Cytoplasm, 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

Chromosomal aberrations involving BCL11A may be a cause of lymphoid malignancies. Translocation t(2;14)(p13;q32.3) causes BCL11A deregulation and amplification.1 Publication
Intellectual developmental disorder with persistence of fetal hemoglobin (IDPFH)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Disease descriptionAn autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin.
See also OMIM:617101
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_07692147T → P in IDPFH; de novo mutation; loss of function in transactivation of transcription; reduces the interaction between isoform 2 and isoform 3; disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3. 1 PublicationCorresponds to variant dbSNP:rs886037864EnsemblClinVar.1
Natural variantiVAR_07692248C → F in IDPFH; de novo mutation; loss of function in transactivation of transcription; reduces the interaction between isoform 2 and isoform 3; disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3. 1 PublicationCorresponds to variant dbSNP:rs886037865EnsemblClinVar.1
Natural variantiVAR_07692366H → Q in IDPFH; de novo mutation; loss of function in transactivation of transcription; reduces the interaction between isoform 2 and isoform 3; disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3. 1 PublicationCorresponds to variant dbSNP:rs886037866EnsemblClinVar.1
Isoform 2 (identifier: Q9H165-2)
Natural varianti47T → P in IDPFH, de novo mutation, loss of function in transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3. 1 Publication1
Natural varianti48C → F in IDPFH, de novo mutation, loss of function in transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3. 1 Publication1
Natural varianti66H → Q in IDPFH, de novo mutation, loss of function in transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3. 1 Publication1
Isoform 3 (identifier: Q9H165-3)
Natural varianti47T → P in IDPFH, de novo mutation, loss of function transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3. 1 Publication1
Natural varianti48C → F in IDPFH, de novo mutation, loss of function in transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3. 1 Publication1
Natural varianti66H → Q in IDPFH, de novo mutation, loss of function in transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
53335

MalaCards human disease database

More...
MalaCardsi
BCL11A
MIMi142335 phenotype
617101 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000119866

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA25300

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
BCL11A

Domain mapping of disease mutations (DMDM)

More...
DMDMi
44887724

<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_00000471021 – 835B-cell lymphoma/leukemia 11AAdd BLAST835

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 residuei86PhosphoserineBy 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-linki123Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki164Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei205PhosphoserineCombined sources1
Modified residuei271Asymmetric dimethylarginineBy similarity1
Modified residuei332PhosphoserineCombined sources1
Modified residuei337PhosphoserineBy similarity1
Modified residuei446PhosphoserineBy similarity1
Modified residuei447PhosphoserineBy similarity1
Modified residuei608PhosphoserineCombined sources1
Cross-linki620Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei625PhosphoserineCombined sources1
Modified residuei630PhosphoserineCombined sources1
Cross-linki634Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)By similarity
Modified residuei701PhosphothreonineCombined sources1
Cross-linki833Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Isoform 6 (identifier: Q9H165-6)
Cross-linki123Glycyl 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

Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9H165

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9H165

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

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PaxDbi
Q9H165

PeptideAtlas

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PeptideAtlasi
Q9H165

PRoteomics IDEntifications database

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PRIDEi
Q9H165

ProteomicsDB human proteome resource

More...
ProteomicsDBi
80362
80363 [Q9H165-2]
80364 [Q9H165-3]
80367 [Q9H165-6]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9H165

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

More...
PhosphoSitePlusi
Q9H165

<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

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.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000119866 Expressed in 190 organ(s), highest expression level in forebrain

CleanEx database of gene expression profiles

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CleanExi
HS_BCL11A

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9H165 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9H165 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB014891
HPA029003

<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, PIAS3, ARP1 and EAR2 (By similarity). Isoform 1, isoform 2 and isoform 3 form homodimers and heterodimers (PubMed:27453576).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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
119737, 32 interactors

Database of interacting proteins

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DIPi
DIP-45629N

Protein interaction database and analysis system

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IntActi
Q9H165, 21 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000338774

<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

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ProteinModelPortali
Q9H165

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

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SMRi
Q9H165

Database of comparative protein structure models

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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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 210Required for nuclear body formation and for SUMO1 recruitmentBy similarityAdd BLAST210

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 biasi260 – 373Pro-richAdd BLAST114
Compositional biasi481 – 509Glu-richAdd BLAST29

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The N-terminus is involved in protein dimerization and in transactivation of transcription.1 Publication

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri170 – 193C2H2-type 1PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri377 – 399C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri405 – 429C2H2-type 3PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri742 – 764C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri770 – 792C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri800 – 823C2H2-type 6PROSITE-ProRule annotationAdd BLAST24

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1721 Eukaryota
COG5048 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156983

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000088605

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG050673

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9H165

KEGG Orthology (KO)

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KOi
K22045

Identification of Orthologs from Complete Genome Data

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OMAi
GEGRFPP

Database of Orthologous Groups

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OrthoDBi
EOG091G160N

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9H165

TreeFam database of animal gene trees

More...
TreeFami
TF318131

Family and domain databases

Integrated resource of protein families, domains and functional sites

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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 (5+)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 5 <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 5 described isoforms and 13 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H165-1) [UniParc]FASTAAdd to basket
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.

« Hide
        10         20         30         40         50
MSRRKQGKPQ HLSKREFSPE PLEAILTDDE PDHGPLGAPE GDHDLLTCGQ
60 70 80 90 100
CQMNFPLGDI LIFIEHKRKQ CNGSLCLEKA VDKPPSPSPI EMKKASNPVE
110 120 130 140 150
VGIQVTPEDD DCLSTSSRGI CPKQEHIADK LLHWRGLSSP RSAHGALIPT
160 170 180 190 200
PGMSAEYAPQ GICKDEPSSY TCTTCKQPFT SAWFLLQHAQ NTHGLRIYLE
210 220 230 240 250
SEHGSPLTPR VGIPSGLGAE CPSQPPLHGI HIADNNPFNL LRIPGSVSRE
260 270 280 290 300
ASGLAEGRFP PTPPLFSPPP RHHLDPHRIE RLGAEEMALA THHPSAFDRV
310 320 330 340 350
LRLNPMAMEP PAMDFSRRLR ELAGNTSSPP LSPGRPSPMQ RLLQPFQPGS
360 370 380 390 400
KPPFLATPPL PPLQSAPPPS QPPVKSKSCE FCGKTFKFQS NLVVHRRSHT
410 420 430 440 450
GEKPYKCNLC DHACTQASKL KRHMKTHMHK SSPMTVKSDD GLSTASSPEP
460 470 480 490 500
GTSDLVGSAS SALKSVVAKF KSENDPNLIP ENGDEEEEED DEEEEEEEEE
510 520 530 540 550
EEEELTESER VDYGFGLSLE AARHHENSSR GAVVGVGDES RALPDVMQGM
560 570 580 590 600
VLSSMQHFSE AFHQVLGEKH KRGHLAEAEG HRDTCDEDSV AGESDRIDDG
610 620 630 640 650
TVNGRGCSPG ESASGGLSKK LLLGSPSSLS PFSKRIKLEK EFDLPPAAMP
660 670 680 690 700
NTENVYSQWL AGYAASRQLK DPFLSFGDSR QSPFASSSEH SSENGSLRFS
710 720 730 740 750
TPPGELDGGI SGRSGTGSGG STPHISGPGP GRPSSKEGRR SDTCEYCGKV
760 770 780 790 800
FKNCSNLTVH RRSHTGERPY KCELCNYACA QSSKLTRHMK THGQVGKDVY
810 820 830
KCEICKMPFS VYSTLEKHMK KWHSDRVLNN DIKTE
Note: Expressed in fetal and adult brain, and in the plasmacytoid dendritic cell. Partitions into the nuclear matrix and colocalizes with BCL6 in nuclear paraspeckles.1 Publication
Length:835
Mass (Da):91,197
Last modified:March 1, 2004 - v2
<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:iD36A7D0BE6976DCF
GO
Isoform 2 (identifier: Q9H165-2) [UniParc]FASTAAdd to basket
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.

Note: Predominantly localized in the nucleus in nuclear paraspeckles.1 Publication
Show »
Length:773
Mass (Da):83,860
Checksum:i251E8A1F3EB87956
GO
Isoform 3 (identifier: Q9H165-3) [UniParc]FASTAAdd to basket
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.

Note: Predominantly localized in the cytoplasm in the absence of interaction with isoform 1 and isoform 2. In presence of isoform 1 or isoform 2, translocates from the cytoplasm into nuclear paraspeckles.1 Publication
Show »
Length:243
Mass (Da):26,866
Checksum:i5B24FE61F3831226
GO
Isoform 6 (identifier: Q9H165-6) [UniParc]FASTAAdd to basket

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

Show »
Length:801
Mass (Da):87,554
Checksum:i3DFB3B3A0798B567
GO
Isoform 7 (identifier: Q9H165-8) [UniParc]FASTAAdd to basket
Also known as: BCL11A-XS, BCL11A eXtra short form

The sequence of this isoform differs from the canonical sequence as follows:
     129-142: DKLLHWRGLSSPRS → AQTELEDVFVYLMV
     143-835: Missing.

Show »
Length:142
Mass (Da):15,720
Checksum:i135EA16BBA202DB3
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 are 13 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2U3TZJ5A0A2U3TZJ5_HUMAN
B-cell lymphoma/leukemia 11A
BCL11A
793Annotation 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>
A0A0J9YXG2A0A0J9YXG2_HUMAN
B-cell lymphoma/leukemia 11A
BCL11A
241Annotation 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>
A0A2R8YDW6A0A2R8YDW6_HUMAN
B-cell lymphoma/leukemia 11A
BCL11A
331Annotation 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>
A0A2R8Y2E8A0A2R8Y2E8_HUMAN
B-cell lymphoma/leukemia 11A
BCL11A
209Annotation 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>
A0A2R8Y7B0A0A2R8Y7B0_HUMAN
B-cell lymphoma/leukemia 11A
BCL11A
204Annotation 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>
A0A0J9YY13A0A0J9YY13_HUMAN
B-cell lymphoma/leukemia 11A
BCL11A
17Annotation 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>
A0A0J9YYJ9A0A0J9YYJ9_HUMAN
B-cell lymphoma/leukemia 11A
BCL11A
167Annotation 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>
A0A2R8YEK1A0A2R8YEK1_HUMAN
B-cell CLL/lymphoma 11A (Zinc finge...
BCL11A hCG_1986387
130Annotation 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>
A0A2R8Y7W4A0A2R8Y7W4_HUMAN
B-cell lymphoma/leukemia 11A
BCL11A
102Annotation 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>
A0A2R8YDS7A0A2R8YDS7_HUMAN
B-cell lymphoma/leukemia 11A
BCL11A
94Annotation 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>
There are more potential isoformsShow all

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAG49025 differs from that shown.Curated
The sequence BAB47438 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti119G → R in CAC17723 (PubMed:11719382).Curated1
Sequence conflicti119G → R in CAC17724 (PubMed:11719382).Curated1
Sequence conflicti119G → R in CAC17725 (PubMed:11719382).Curated1
Sequence conflicti316S → F in AAG49025 (PubMed:11161790).Curated1
Sequence conflicti386F → L in AAG49025 (PubMed:11161790).Curated1
Sequence conflicti522 – 532Missing in AAG49025 (PubMed:11161790).CuratedAdd BLAST11
Sequence conflicti648A → T in CAC17723 (PubMed:11719382).Curated1
Sequence conflicti648A → T in CAC17724 (PubMed:11719382).Curated1
Sequence conflicti653E → D in AAG49025 (PubMed:11161790).Curated1
Sequence conflicti730P → T in CAC17723 (PubMed:11719382).Curated1
Sequence conflicti730P → T in CAC17724 (PubMed:11719382).Curated1

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

Genetic variation in BCL11A underlies the fetal hemoglobin quantitative trait locus 5 [MIMi: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.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07692147T → P in IDPFH; de novo mutation; loss of function in transactivation of transcription; reduces the interaction between isoform 2 and isoform 3; disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3. 1 PublicationCorresponds to variant dbSNP:rs886037864EnsemblClinVar.1
Natural variantiVAR_07692248C → F in IDPFH; de novo mutation; loss of function in transactivation of transcription; reduces the interaction between isoform 2 and isoform 3; disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3. 1 PublicationCorresponds to variant dbSNP:rs886037865EnsemblClinVar.1
Natural variantiVAR_07692366H → Q in IDPFH; de novo mutation; loss of function in transactivation of transcription; reduces the interaction between isoform 2 and isoform 3; disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3. 1 PublicationCorresponds to variant dbSNP:rs886037866EnsemblClinVar.1
Natural variantiVAR_035553142S → F in a breast cancer sample; somatic mutation. 1 Publication1
Isoform 2 (identifier: Q9H165-2)
Natural varianti47T → P in IDPFH, de novo mutation, loss of function in transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3. 1 Publication1
Natural varianti48C → F in IDPFH, de novo mutation, loss of function in transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3. 1 Publication1
Natural varianti66H → Q in IDPFH, de novo mutation, loss of function in transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3. 1 Publication1
Isoform 3 (identifier: Q9H165-3)
Natural varianti47T → P in IDPFH, de novo mutation, loss of function transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3. 1 Publication1
Natural varianti48C → F in IDPFH, de novo mutation, loss of function in transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3. 1 Publication1
Natural varianti66H → Q in IDPFH, de novo mutation, loss of function in transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3. 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_009548129 – 163DKLLH…PQGIC → G in isoform 6. 1 PublicationAdd BLAST35
Alternative sequenceiVSP_058656129 – 142DKLLH…SSPRS → AQTELEDVFVYLMV in isoform 7. Add BLAST14
Alternative sequenceiVSP_058657143 – 835Missing in isoform 7. Add BLAST693
Alternative sequenceiVSP_009550212 – 243GIPSG…NLLRI → LHTPPFGVVPRELKMCGSFR MEAREPLSSEKI in isoform 3. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_009552244 – 835Missing in isoform 3. 1 PublicationAdd BLAST592
Alternative sequenceiVSP_009554745 – 773EYCGK…PYKCE → SSHTPIRRSTQRAQDVWQFS DGSSRALKF in isoform 2. 3 PublicationsAdd BLAST29
Alternative sequenceiVSP_009555774 – 835Missing in isoform 2. 3 PublicationsAdd BLAST62

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
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.
AY692278 mRNA Translation: AAU04557.1
AC007381 Genomic DNA No translation available.
AC009970 Genomic DNA No translation available.
CH471053 Genomic DNA Translation: EAX00035.1
CH471053 Genomic DNA Translation: EAX00040.1
CH471053 Genomic DNA Translation: EAX00041.1
BC021098 mRNA Translation: AAH21098.1
AF080216 mRNA Translation: AAG49025.1 Sequence problems.
AK001035 mRNA No translation available.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS1861.1 [Q9H165-2]
CCDS1862.1 [Q9H165-1]
CCDS46295.1 [Q9H165-3]

NCBI Reference Sequences

More...
RefSeqi
NP_060484.2, NM_018014.3 [Q9H165-2]
NP_075044.2, NM_022893.3 [Q9H165-1]
NP_612569.1, NM_138559.1 [Q9H165-3]
XP_011531211.1, XM_011532909.1 [Q9H165-1]
XP_016859823.1, XM_017004334.1 [Q9H165-6]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.370549

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000335712; ENSP00000338774; ENSG00000119866 [Q9H165-6]
ENST00000356842; ENSP00000349300; ENSG00000119866 [Q9H165-2]
ENST00000359629; ENSP00000352648; ENSG00000119866 [Q9H165-3]
ENST00000409351; ENSP00000487844; ENSG00000119866 [Q9H165-8]
ENST00000642384; ENSP00000496168; ENSG00000119866 [Q9H165-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
53335

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:53335

UCSC genome browser

More...
UCSCi
uc002sab.4 human [Q9H165-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, 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
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.
AY692278 mRNA Translation: AAU04557.1
AC007381 Genomic DNA No translation available.
AC009970 Genomic DNA No translation available.
CH471053 Genomic DNA Translation: EAX00035.1
CH471053 Genomic DNA Translation: EAX00040.1
CH471053 Genomic DNA Translation: EAX00041.1
BC021098 mRNA Translation: AAH21098.1
AF080216 mRNA Translation: AAG49025.1 Sequence problems.
AK001035 mRNA No translation available.
CCDSiCCDS1861.1 [Q9H165-2]
CCDS1862.1 [Q9H165-1]
CCDS46295.1 [Q9H165-3]
RefSeqiNP_060484.2, NM_018014.3 [Q9H165-2]
NP_075044.2, NM_022893.3 [Q9H165-1]
NP_612569.1, NM_138559.1 [Q9H165-3]
XP_011531211.1, XM_011532909.1 [Q9H165-1]
XP_016859823.1, XM_017004334.1 [Q9H165-6]
UniGeneiHs.370549

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5VTBX-ray2.40B2-16[»]
ProteinModelPortaliQ9H165
SMRiQ9H165
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119737, 32 interactors
DIPiDIP-45629N
IntActiQ9H165, 21 interactors
STRINGi9606.ENSP00000338774

PTM databases

iPTMnetiQ9H165
PhosphoSitePlusiQ9H165

Polymorphism and mutation databases

BioMutaiBCL11A
DMDMi44887724

Proteomic databases

EPDiQ9H165
MaxQBiQ9H165
PaxDbiQ9H165
PeptideAtlasiQ9H165
PRIDEiQ9H165
ProteomicsDBi80362
80363 [Q9H165-2]
80364 [Q9H165-3]
80367 [Q9H165-6]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
53335
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000335712; ENSP00000338774; ENSG00000119866 [Q9H165-6]
ENST00000356842; ENSP00000349300; ENSG00000119866 [Q9H165-2]
ENST00000359629; ENSP00000352648; ENSG00000119866 [Q9H165-3]
ENST00000409351; ENSP00000487844; ENSG00000119866 [Q9H165-8]
ENST00000642384; ENSP00000496168; ENSG00000119866 [Q9H165-1]
GeneIDi53335
KEGGihsa:53335
UCSCiuc002sab.4 human [Q9H165-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
53335
DisGeNETi53335
EuPathDBiHostDB:ENSG00000119866.20

GeneCards: human genes, protein and diseases

More...
GeneCardsi
BCL11A
HGNCiHGNC:13221 BCL11A
HPAiCAB014891
HPA029003
MalaCardsiBCL11A
MIMi142335 phenotype
606557 gene
617101 phenotype
neXtProtiNX_Q9H165
OpenTargetsiENSG00000119866
Orphaneti251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
PharmGKBiPA25300

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00940000156983
HOGENOMiHOG000088605
HOVERGENiHBG050673
InParanoidiQ9H165
KOiK22045
OMAiGEGRFPP
OrthoDBiEOG091G160N
PhylomeDBiQ9H165
TreeFamiTF318131

Enzyme and pathway databases

SIGNORiQ9H165

Miscellaneous databases

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

More...
ChiTaRSi
BCL11A human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
BCL11A

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

More...
GenomeRNAii
53335

Protein Ontology

More...
PROi
PR:Q9H165

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000119866 Expressed in 190 organ(s), highest expression level in forebrain
CleanExiHS_BCL11A
ExpressionAtlasiQ9H165 baseline and differential
GenevisibleiQ9H165 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 nameiBC11A_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: Q9H165
Secondary accession number(s): D6W5D7
, Q66LN6, Q86W14, Q8WU92, Q96JL6, Q9H163, Q9H164, Q9H3G9, Q9NWA7
<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: March 1, 2004
Last modified: December 5, 2018
This is version 166 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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