Human Gene TFEC (ENST00000457268.5) from GENCODE V44
Description: Homo sapiens transcription factor EC (TFEC), transcript variant 3, mRNA. (from RefSeq NM_001244583) RefSeq Summary (NM_001244583): This gene encodes a member of the micropthalmia (MiT) family of basic helix-loop-helix leucine zipper transcription factors. MiT transcription factors regulate the expression of target genes by binding to E-box recognition sequences as homo- or heterodimers, and play roles in multiple cellular processes including survival, growth and differentiation. The encoded protein is a transcriptional activator of the nonmuscle myosin II heavy chain-A gene, and may also co-regulate target genes in osteoclasts as a heterodimer with micropthalmia-associated transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]. Gencode Transcript: ENST00000457268.5 Gencode Gene: ENSG00000105967.16 Transcript (Including UTRs) Position: hg38 chr7:115,935,148-115,968,313 Size: 33,166 Total Exon Count: 6 Strand: - Coding Region Position: hg38 chr7:115,940,551-115,968,250 Size: 27,700 Coding Exon Count: 6
ID:TFEC_HUMAN DESCRIPTION: RecName: Full=Transcription factor EC; Short=TFE-C; AltName: Full=Class E basic helix-loop-helix protein 34; Short=bHLHe34; AltName: Full=Transcription factor EC-like; Short=hTFEC-L; FUNCTION: Transcriptional regulator that 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 (By similarity). Collaborates with MITF in target gene activation (By similarity). Acts as a transcriptional repressor on minimal promoter containing mu E3 enhancer sequence (By similarity). Binds to mu E3 DNA sequence of the immunoglobulin heavy-chain gene enhancer (By similarity). Binds DNA in a homo- or heterodimeric form. SUBUNIT: Homodimer. Forms heterodimers with TFE3. Forms heterodimers with MITF (By similarity). Interacts with MITF (By similarity). SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Expressed moderately in spleen, kidney, bone marrow, small intestine and leukocytes. Expressed weakly in testis, trachea and colon. SIMILARITY: Belongs to the MiT/TFE family. SIMILARITY: Contains 1 bHLH (basic helix-loop-helix) domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF11851 - Domain of unknown function (DUF3371) PF00010 - Helix-loop-helix DNA-binding domain
ModBase Predicted Comparative 3D Structure on O14948
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0003713 transcription coactivator activity GO:0003714 transcription corepressor activity GO:0005515 protein binding GO:0046983 protein dimerization activity
Biological Process: GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006366 transcription from RNA polymerase II promoter GO:0034605 cellular response to heat GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:1903507 negative regulation of nucleic acid-templated transcription
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