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transcription factor E2-alpha; class B basic helix-loop-helix protein 21; bHLHb21; immunoglobulin enhancer-binding factor E12/E47; immunoglobulin transcription factor 1; Kappa-E2-binding factor; transcription factor 3; TCF-3; transcription factor ITF-1 (TCF3, BHLHB21, E2A, ITF1)

Function: - heterodimers between TCF3 & 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 - efficient DNA binding requires dimerization with another bHLH protein - forms a heterodimer with ASH1 & TWIST2 - isoform E12 interacts with GRIPE & FIGLA (putative) - interacts with PTF1A & TGFB1I1 - component of a nuclear TAL-1 complex composed at least of CBFA2T3, LDB1, TAL1 & TCF3 (putative) - interacts with UBE2I - phosphorylated following NGF stimulation (putative) Structure: contains 1 basic helix-loop-helix (bHLH) domain Compartment: nucleus Alternative splicing: named isoforms=2 Pathology: - chromosomal aberrations involving TCF3 are cause of forms of pre-B-cell acute lymphoblastic leukemia (B-ALL) a) translocation t(1;19)(q23;p13.3) with PBX1 b) translocation t(17;19)(q22;p13.3) with HLF c) inversion inv(19)(p13;q13) with TFPT

Related

E2A/TCF3 gene transcription factor BTF3; RNA polymerase B transcription factor-3 (BTF3, NACB, OK/SW-cl8)

General

basic helix loop helix (bHLH) family transcription factor proto oncogene protein

Properties

SIZE: entity length = 654 aa MW = 68 kD COMPARTMENT: cell nucleus MOTIF: 9aaTAD {19-27} Ser phosphorylation site {S139} nuclear translocation signal {170-176} Ser phosphorylation site {S359} Ser phosphorylation site {S379} leucine zipper SITE: 389-425 FOR-BINDING-VIA: leucine zipper breakpoint {483-484} DNA-binding motif SITE: 546-561 helix-loop-helix NAME: helix-loop-helix SITE: 562-605 FOR-BINDING-VIA: helix-loop-helix

Database Correlations

OMIM 147141 UniProt P15923 Pfam PF00010 Entrez Gene 6929 Kegg hsa:6929

References

  1. UniProt :accession P15923
  2. Atlas of genetics & cytogenetics in oncology & haematology http://atlasgeneticsoncology.org/genes/E2A.html

Component-of

pancreas transcription factor 1 complex (PTF1)