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

More general terms

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

Database

• OMIM: https://mirror.omim.org/entry/604732
• UniProt: http://www.uniprot.org/uniprot/O14948.html