transcription factor EC (protein TFE-C, transcription factor EC-like, hTFEC-L, TFEC, TCFEC, TFECL)

Function: - transcriptional regulator - acts as a repressor or an activator - acts as a transcriptional repressor on minimal promoter containing element F (that includes an E-box sequence) - binds to element F in an E-box sequence-specific manner - acts as a transcriptional transactivator on the proximal promoter region of the tartrate-resistant acid phosphatase (TRAP) E-box containing promoter (putative) - collaborates with MITF in target gene activation (putative) - acts as a transcriptional repressor on minimal promoter containing mu E3 enhancer sequence - binds to mu E3 DNA sequence of the immunoglobulin heavy-chain gene enhancer (putative) - binds DNA in a homo- or heterodimeric form - forms heterodimers with TFE3 - forms heterodimers with MITF Structure: - homodimer - belongs to the MiT/TFE family - contains 1 basic helix-loop-helix (bHLH) domain Compartment: nucleus Alternative splicing: named isoforms=4 Expression: - expressed moderately in spleen, kidney, bone marrow, small intestine & leukocytes - expressed weakly in testis, trachea & colon

General

basic helix loop helix (bHLH) family transcription factor transcription factor (TF)

Properties

SIZE: entity length = 347 aa MW = 39 kD COMPARTMENT: cell nucleus MOTIF: Necessary for transcriptional transactivation {1-119} DNA-binding motif SITE: 124-136 helix-loop-helix NAME: helix-loop-helix SITE: 137-193 FOR-BINDING-VIA: helix-loop-helix Necessary for transcriptional transactivation {271-347}

Database Correlations

OMIM 604732 UniProt O14948 Pfam PF00010

References

UniProt :accession O14948