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UniProtKB - P15923 (TFE2_HUMAN)

Entry version 229 (22 Apr 2020)
Sequence version 1 (01 Apr 1990)
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Protein

Transcription factor E2-alpha

Gene

TCF3

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

Transcriptional regulator. Involved in the initiation of neuronal differentiation. Heterodimers between TCF3 and tissue-specific basic helix-loop-helix (bHLH) proteins play major roles in determining tissue-specific cell fate during embryogenesis, like muscle or early B-cell differentiation. Dimers bind DNA on E-box motifs: 5'-CANNTG-3'. Binds to the kappa-E2 site in the kappa immunoglobulin gene enhancer. Binds to IEB1 and IEB2, which are short DNA sequences in the insulin gene transcription control region.By similarity

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 functionDNA-binding
Biological processDifferentiation, Neurogenesis, Transcription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-525793 Myogenesis
R-HSA-8939236 RUNX1 regulates transcription of genes involved in differentiation of HSCs

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P15923

SIGNOR Signaling Network Open Resource

More...SIGNORi		P15923

<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%5Fand%5Ftaxonomy%5Fsection">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:
Transcription factor E2-alpha
Alternative name(s):
Class B basic helix-loop-helix protein 21
Short name:
bHLHb21
Immunoglobulin enhancer-binding factor E12/E47
Immunoglobulin transcription factor 1
Kappa-E2-binding factor
Transcription factor 3
Short name:
TCF-3
Transcription factor ITF-1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:TCF3
Synonyms:BHLHB21, E2A, ITF1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 19

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:11633 TCF3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		147141 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P15923

<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 & Seán O’Donoghue; 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

Chromosomal aberrations involving TCF3 are cause of forms of pre-B-cell acute lymphoblastic leukemia (B-ALL). Translocation t(1;19)(q23;p13.3) with PBX1. TCF3-PBX1 transforms cells by constitutively activating transcription of genes regulated by PBX1 or by other members of the PBX protein family (PubMed:1967983, PubMed:1671560). Translocation t(17;19)(q22;p13.3) with HLF (PubMed:1386162). Inversion inv(19)(p13;q13) with TFPT (PubMed:10086727).4 Publications
Agammaglobulinemia 8, autosomal dominant (AGM8)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of agammaglobulinemia, a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Isoform E47 (identifier: P15923-2)
<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_082832555E → K in AGM8, localizes normally to the nucleus, does not perform proper DNA binding, acts in a dominant-negative manner when coexpressed with wild-type) (Ref.29. 1 Publication1

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei483 – 484Breakpoint for translocation to form TCF3-PBX1 oncogene2

Keywords - Diseasei

Disease mutation, Proto-oncogene

Organism-specific databases

DisGeNET

More...DisGeNETi		6929

MalaCards human disease database

More...MalaCardsi		TCF3
MIMi616941 phenotype

Open Targets

More...OpenTargetsi		ENSG00000071564

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

More...Orphaneti		33110 Autosomal agammaglobulinemia
99860 Precursor B-cell acute lymphoblastic leukemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA164742580

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P15923 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		TCF3

Domain mapping of disease mutations (DMDM)

More...DMDMi		135655

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001274661 – 654Transcription factor E2-alphaAdd BLAST654

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 residuei134PhosphoserineCombined sources1
Modified residuei139PhosphoserineCombined sources1
Modified residuei355PhosphothreonineBy similarity1
Modified residuei359PhosphoserineCombined sources1
Modified residuei371Omega-N-methylarginineBy similarity1
Modified residuei379PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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-linki498Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei529PhosphoserineCombined sources1
Cross-linki625Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Isoform E47 (identifier: P15923-2)
Modified residuei531PhosphothreonineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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

Phosphorylated following NGF stimulation.By similarity

Keywords - PTMi

Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P15923

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P15923

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P15923

MaxQB - The MaxQuant DataBase

More...MaxQBi		P15923

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

More...PaxDbi		P15923

PeptideAtlas

More...PeptideAtlasi		P15923

PRoteomics IDEntifications database

More...PRIDEi		P15923

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		53242 [P15923-1]
53243 [P15923-2]
61481

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P15923

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

More...PhosphoSitePlusi		P15923

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000071564 Expressed in testis and 231 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P15923 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P15923 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000071564 Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Forms a heterodimer with ASH1 and TWIST2. Isoform E12 interacts with RALGAPA1 and FIGLA. Efficient DNA binding requires dimerization with another bHLH protein.

Component of a nuclear TAL-1 complex composed at least of CBFA2T3, LDB1, TAL1 and TCF3.

Interacts with NEUROD2, PTF1A and TGFB1I1.

Forms a heterodimer with MYOG; heterodimerization enhances MYOG DNA-binding and transcriptional activities (By similarity). Homodimer. Heterodimer.

Forms a heterodimer with NEUROD1; the heterodimer is inhibited in presence of ID2, but not NR0B2, to E-box element.

Interacts with EP300 and UBE2I.

Interacts with BHLHA9 (PubMed:25466284).

Forms a heterodimer with ATOH8; repress transcription of TCF3 and TCF3/NEUROG3 dimer-induced transactivation of E box-dependent promoters (By similarity).

By similarity4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Show more details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		112791, 201 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P15923

Database of interacting proteins

More...DIPi		DIP-74N

Protein interaction database and analysis system

More...IntActi		P15923, 41 interactors

Molecular INTeraction database

More...MINTi		P15923

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000262965

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P15923 protein

<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

Secondary structure

1654
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		P15923

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini549 – 602bHLHPROSITE-ProRule annotationAdd BLAST54

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>Regioni389 – 425Leucine-zipperAdd BLAST37

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi19 – 279aaTAD9
Motifi170 – 176Nuclear localization signalSequence analysis7

<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 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.2 Publications

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3910 Eukaryota
ENOG410XYUA LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157036

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_021099_2_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P15923

KEGG Orthology (KO)

More...KOi		K09063

Identification of Orthologs from Complete Genome Data

More...OMAi		AHVHRPH

Database of Orthologous Groups

More...OrthoDBi		571132at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P15923

TreeFam database of animal gene trees

More...TreeFami		TF321672

Family and domain databases

Conserved Domains Database

More...CDDi		cd00083 HLH, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		4.10.280.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00010 HLH, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00353 HLH, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47459 SSF47459, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50888 BHLH, 1 hit

<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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 3 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 14 potential isoforms that are computationally mapped.Show allAlign All

Isoform E12 (identifier: P15923-1) [UniParc]FASTAAdd to basket
Also known as: PAN-2

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MNQPQRMAPV GTDKELSDLL DFSMMFPLPV TNGKGRPASL AGAQFGGSGL 
        60         70         80         90        100
EDRPSSGSWG SGDQSSSSFD PSRTFSEGTH FTESHSSLSS STFLGPGLGG 
       110        120        130        140        150
KSGERGAYAS FGRDAGVGGL TQAGFLSGEL ALNSPGPLSP SGMKGTSQYY 
       160        170        180        190        200
PSYSGSSRRR AADGSLDTQP KKVRKVPPGL PSSVYPPSSG EDYGRDATAY 
       210        220        230        240        250
PSAKTPSSTY PAPFYVADGS LHPSAELWSP PGQAGFGPML GGGSSPLPLP 
       260        270        280        290        300
PGSGPVGSSG SSSTFGGLHQ HERMGYQLHG AEVNGGLPSA SSFSSAPGAT 
       310        320        330        340        350
YGGVSSHTPP VSGADSLLGS RGTTAGSSGD ALGKALASIY SPDHSSNNFS 
       360        370        380        390        400
SSPSTPVGSP QGLAGTSQWP RAGAPGALSP SYDGGLHGLQ SKIEDHLDEA 
       410        420        430        440        450
IHVLRSHAVG TAGDMHTLLP GHGALASGFT GPMSLGGRHA GLVGGSHPED 
       460        470        480        490        500
GLAGSTSLMH NHAALPSQPG TLPDLSRPPD SYSGLGRAGA TAAASEIKRE 
       510        520        530        540        550
EKEDEENTSA ADHSEEEKKE LKAPRARTSP DEDEDDLLPP EQKAEREKER 
       560        570        580        590        600
RVANNARERL RVRDINEAFK ELGRMCQLHL NSEKPQTKLL ILHQAVSVIL 
       610        620        630        640        650
NLEQQVRERN LNPKAACLKR REEEKVSGVV GDPQMVLSAP HPGLSEAHNP 

AGHM
Length:654
Mass (Da):67,600
Last modified:April 1, 1990 - 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:i52F5E3DE1890AE13
GO
Isoform E47 (identifier: P15923-2) [UniParc]FASTAAdd to basket
Also known as: PAN-1

The sequence of this isoform differs from the canonical sequence as follows:
     530-601: PDEDEDDLLP...LHQAVSVILN → STDEVLSLEE...LQQAVQVILG

Note: The bHLH domain encompassing amino acids 546 to 599 is sufficient to mediate DNA-binding and homodimerization. Combined mutagenesis of Phe-566 and Leu-569 to Asp-566 and Glu-569, mutagenesis of Lys-585 to Ala-585 or combined mutagenesis of Ile-588 and Leu-589 to Asp-588 and Glu-589 prevents DNA-binding and homodimerization. Mutagenesis of Arg-548 to Lys-548, combined mutagenesis of Arg-547 and Arg-548 to Gly-547 and Gly-548, mutagenesis of Arg-556 to Lys-556, mutagenesis of Arg-558 to Lys-558, or combined mutagenesis of Arg-556 and Arg-558 to Gly-556 and Gly-558, alter DNA-binding but not dimerization.Curated
Show »
Length:651
Mass (Da):67,265
Checksum:iF5F11C462351FFD6
GO
Isoform 3 (identifier: P15923-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     49-99: Missing.
     528-528: T → TRCQPTPRHSPPSPHQDAHVHRPHAHRTHTGRPSAGPTLFPQPHCLPLAPSRRPPH

Show »
Length:658
Mass (Da):68,510
Checksum:i3CAD1F1EB5AD39EA
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 14 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
X6REB3X6REB3_HUMAN
Transcription factor E2-alpha
TCF3
679Annotation 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>
A0A0A0MRB7A0A0A0MRB7_HUMAN
Transcription factor E2-alpha
TCF3
600Annotation 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>
K7EMM4K7EMM4_HUMAN
Transcription factor E2-alpha
TCF3
220Annotation 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>
K7ERZ7K7ERZ7_HUMAN
Transcription factor E2-alpha
TCF3
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>
K7ENH8K7ENH8_HUMAN
Transcription factor E2-alpha
TCF3
314Annotation 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>
K7EPH6K7EPH6_HUMAN
Transcription factor E2-alpha
TCF3
96Annotation 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>
K7EKB9K7EKB9_HUMAN
Transcription factor E2-alpha
TCF3
179Annotation 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>
A0A494C1R3A0A494C1R3_HUMAN
Transcription factor E2-alpha
TCF3
139Annotation 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>
K7ENI0K7ENI0_HUMAN
Transcription factor E2-alpha
TCF3
95Annotation 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>
K7EK65K7EK65_HUMAN
Transcription factor E2-alpha
TCF3
82Annotation 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 AAA52331 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.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 conflicti69 – 99FDPSR…GPGLG → GGGECLAWCGPSAVHRCADV GLGMVSARTAP in CAA36297 (PubMed:2308859).CuratedAdd BLAST31
Sequence conflicti214 – 216FYV → EFR in AAA56830 (PubMed:2493990).Curated3
Sequence conflicti302Missing in AAA36764 (PubMed:1967983).Curated1
Sequence conflicti390Missing in AAA56830 (PubMed:2493990).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0363968A → V in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs376780559Ensembl.1
Natural variantiVAR_049552120L → P. Corresponds to variant dbSNP:rs35354874Ensembl.1
Natural variantiVAR_049553198T → A. Corresponds to variant dbSNP:rs11879402Ensembl.1
Natural variantiVAR_049554431G → S. Corresponds to variant dbSNP:rs1052692Ensembl.1
Isoform E47 (identifier: P15923-2)
Natural variantiVAR_082832555E → K in AGM8, localizes normally to the nucleus, does not perform proper DNA binding, acts in a dominant-negative manner when coexpressed with wild-type) (Ref.29. 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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_05727749 – 99Missing in isoform 3. 1 PublicationAdd BLAST51
Alternative sequenceiVSP_057278528T → TRCQPTPRHSPPSPHQDAHV HRPHAHRTHTGRPSAGPTLF PQPHCLPLAPSRRPPH in isoform 3. 1 Publication1
Alternative sequenceiVSP_002155530 – 601PDEDE…SVILN → STDEVLSLEEKDLRDRERRM ANNARERVRVRDINEAFREL GRMCQMHLKSDKAQTKLLIL QQAVQVILG in isoform E47. 4 PublicationsAdd BLAST72

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
M31523 mRNA Translation: AAA61146.1
M31522 mRNA Translation: AAA36764.1 Different termination.
M31222 mRNA Translation: AAA52331.1 Different initiation.
AC006274 Genomic DNA Translation: AAC99797.1
AC005321 Genomic DNA Translation: AAC27373.1
KC877695 Genomic DNA No translation available.
BC110579 mRNA Translation: AAI10580.1
BC110580 mRNA Translation: AAI10581.1
M24404 mRNA Translation: AAA56829.1
M24405 mRNA Translation: AAA56830.1
X52078 mRNA Translation: CAA36297.1
M65214 mRNA Translation: AAC41693.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS12074.1 [P15923-1]
CCDS45899.1 [P15923-2]

Protein sequence database of the Protein Information Resource

More...PIRi		A34734
S10099

NCBI Reference Sequences

More...RefSeqi		NP_001129611.1, NM_001136139.2 [P15923-2]
NP_003191.1, NM_003200.3 [P15923-1]
XP_016882669.1, XM_017027180.1 [P15923-3]
XP_016882670.1, XM_017027181.1 [P15923-1]
XP_016882671.1, XM_017027182.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000262965; ENSP00000262965; ENSG00000071564 [P15923-1]
ENST00000395423; ENSP00000378813; ENSG00000071564 [P15923-3]
ENST00000588136; ENSP00000468487; ENSG00000071564 [P15923-2]
ENST00000611869; ENSP00000480564; ENSG00000071564 [P15923-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6929

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6929

UCSC genome browser

More...UCSCi		uc002ltr.3 human [P15923-1]

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%5Freferences%5Fsection">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
M31523 mRNA Translation: AAA61146.1
M31522 mRNA Translation: AAA36764.1 Different termination.
M31222 mRNA Translation: AAA52331.1 Different initiation.
AC006274 Genomic DNA Translation: AAC99797.1
AC005321 Genomic DNA Translation: AAC27373.1
KC877695 Genomic DNA No translation available.
BC110579 mRNA Translation: AAI10580.1
BC110580 mRNA Translation: AAI10581.1
M24404 mRNA Translation: AAA56829.1
M24405 mRNA Translation: AAA56830.1
X52078 mRNA Translation: CAA36297.1
M65214 mRNA Translation: AAC41693.1
CCDSiCCDS12074.1 [P15923-1]
CCDS45899.1 [P15923-2]
PIRiA34734
S10099
RefSeqiNP_001129611.1, NM_001136139.2 [P15923-2]
NP_003191.1, NM_003200.3 [P15923-1]
XP_016882669.1, XM_017027180.1 [P15923-3]
XP_016882670.1, XM_017027181.1 [P15923-1]
XP_016882671.1, XM_017027182.1

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
1HLHmodel-A/B549-610[»]
2MH0NMR-A1-37[»]
2YPAX-ray2.80B546-616[»]
2YPBX-ray2.87B546-616[»]
3U5VX-ray1.70A563-613[»]
6MGNX-ray1.90A561-612[»]
SMRiP15923
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi112791, 201 interactors
CORUMiP15923
DIPiDIP-74N
IntActiP15923, 41 interactors
MINTiP15923
STRINGi9606.ENSP00000262965

PTM databases

iPTMnetiP15923
PhosphoSitePlusiP15923

Polymorphism and mutation databases

BioMutaiTCF3
DMDMi135655

Proteomic databases

EPDiP15923
jPOSTiP15923
MassIVEiP15923
MaxQBiP15923
PaxDbiP15923
PeptideAtlasiP15923
PRIDEiP15923
ProteomicsDBi53242 [P15923-1]
53243 [P15923-2]
61481

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		4332 545 antibodies

Genome annotation databases

EnsembliENST00000262965; ENSP00000262965; ENSG00000071564 [P15923-1]
ENST00000395423; ENSP00000378813; ENSG00000071564 [P15923-3]
ENST00000588136; ENSP00000468487; ENSG00000071564 [P15923-2]
ENST00000611869; ENSP00000480564; ENSG00000071564 [P15923-2]
GeneIDi6929
KEGGihsa:6929
UCSCiuc002ltr.3 human [P15923-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		6929
DisGeNETi6929

GeneCards: human genes, protein and diseases

More...GeneCardsi		TCF3
HGNCiHGNC:11633 TCF3
HPAiENSG00000071564 Low tissue specificity
MalaCardsiTCF3
MIMi147141 gene
616941 phenotype
neXtProtiNX_P15923
OpenTargetsiENSG00000071564
Orphaneti33110 Autosomal agammaglobulinemia
99860 Precursor B-cell acute lymphoblastic leukemia
PharmGKBiPA164742580

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3910 Eukaryota
ENOG410XYUA LUCA
GeneTreeiENSGT00940000157036
HOGENOMiCLU_021099_2_1_1
InParanoidiP15923
KOiK09063
OMAiAHVHRPH
OrthoDBi571132at2759
PhylomeDBiP15923
TreeFamiTF321672

Enzyme and pathway databases

ReactomeiR-HSA-525793 Myogenesis
R-HSA-8939236 RUNX1 regulates transcription of genes involved in differentiation of HSCs
SignaLinkiP15923
SIGNORiP15923

Miscellaneous databases

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

More...ChiTaRSi		TCF3 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		TCF3

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

More...GenomeRNAii		6929
PharosiP15923 Tbio

Protein Ontology

More...PROi		PR:P15923
RNActiP15923 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000071564 Expressed in testis and 231 other tissues
ExpressionAtlasiP15923 baseline and differential
GenevisibleiP15923 HS

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiTFE2_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: P15923
Secondary accession number(s): P15883
, Q14208, Q14635, Q14636, Q2TB39, Q2TB40, Q9UPI9
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: April 1, 1990
Last modified: April 22, 2020
This is version 229 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

3D-structure, 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 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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