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TFE3

transcription factor binding to IGHM enhancer 3
General Information
Name transcription factor binding to IGHM enhancer 3
Alias
  • transcription factor E3
  • class E basic helix-loop-helix protein 33
  • transcription factor E family, member A
  • transcription factor for IgH enhancer
  • transcription factor for immunoglobulin heavy-chain enhancer 3
Gene_family Basic helix-loop-helix proteins
organism Homo sapiens
entrez_id 7030
location Xp11.23
transcript_count 4
exon_count 12
Location
by NCBI GRCh38.p14
Summary
    Entrez This gene encodes a basic helix-loop-helix domain-containing transcription factor that binds MUE3-type E-box sequences in the promoter of genes. The encoded protein promotes the expression of genes downstream of transforming growth factor beta (TGF-beta) signaling. This gene may be involved in chromosomal translocations in renal cell carcinomas and other cancers, resulting in the production of fusion proteins. Translocation partners include PRCC (papillary renal cell carcinoma), NONO (non-POU domain containing, octamer-binding), and ASPSCR1 (alveolar soft part sarcoma chromosome region, candidate 1), among other genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
    Stringdb Transcription factor E3; Transcription factor that specifically recognizes and binds E-box sequences (5'-CANNTG-3'). Efficient DNA-binding requires dimerization with itself or with another MiT/TFE family member such as TFEB or MITF. In association with TFEB, activates the expression of CD40L in T-cells, thereby playing a role in T- cell-dependent antibody responses in activated CD4(+) T-cells and thymus-dependent humoral immunity. Specifically recognizes the MUE3 box, a subset of E-boxes, present in the immunoglobulin enhancer. It also binds very well to a USF/MLTF site; Basic helix-lo [...]
    nextProt Transcription factor that acts as a master regulator of lysosomal biogenesis and immune response (PubMed:2338243, PubMed:29146937, PubMed:30733432, PubMed:31672913). Specifically recognizes and binds E-box sequences (5'-CANNTG-3'); efficient DNA-binding requires dimerization with itself or with another MiT/TFE family member such as TFEB or MITF (By similarity). Involved in the cellular response to amino acid availability by acting downstream of MTOR: in the presence of nutrients, TFE3 phosphorylation by MTOR promotes its cytosolic retention and subsequent inactivation (PubMed:31672913). Upon starvation or lysosomal stress, inhibition of MTOR induces TFE3 dephosphorylation, resulting in nuclear localization and transcription factor activity (PubMed:31672913). Maintains the pluripotent state of embryonic stem cells by promoting the expression of genes such as ESRRB; mTOR-dependent TFE3 cytosolic retention and inactivation promotes exit from pluripotency (By similarity). Required to maintain the naive pluripotent state of hematopoietic stem cell; mTOR-dependent cytoplasmic retention of TFE3 promotes the exit of hematopoietic stem cell from pluripotency (PubMed:30733432). TFE3 activity is also involved in the inhibition of neuronal progenitor differentiation (By similarity). Acts as a positive regulator of browning of adipose tissue by promoting expression of target genes; mTOR-dependent phosphorylation promotes cytoplasmic retention of TFE3 and inhibits browning of adipose tissue (By similarity). In association with TFEB, activates the expression of CD40L in T-cells, thereby playing a role in T-cell-dependent antibody responses in activated CD4(+) T-cells and thymus-dependent humoral immunity (By similarity). Specifically recognizes the MUE3 box, a subset of E-boxes, present in the immunoglobulin enhancer (PubMed:2338243). It also binds very well to a USF/MLTF site (PubMed:2338243). May regulate lysosomal positioning in response to nutrient deprivation by promoting the expression of PIP4P1 (PubMed:29146937).
Interactions
NCBI
StringDB
Ontologies
Pathways
Name DB ID
MET in type 1 papillary renal cell carcinoma (WP4205) WikiPathways WP4205_r118937
TGF-beta receptor signaling in skeletal dysplasias (WP4816) WikiPathways WP4816_r116440
TGF-beta receptor signaling (WP560) WikiPathways WP560_r117838
Type 2 papillary renal cell carcinoma (WP4241) WikiPathways WP4241_r123413
Transcripts
Accession Version MolecularType Name NCBI Comments
XR_007068199 1 miscRNA transcript variant X2 NC_000023 Reference
NM_001282142 2 mRNA transcript variant 2 NC_000023 Reference
NM_006521 6 mRNA transcript variant 1 NC_000023 Reference
XM_024452432 2 mRNA transcript variant X1 NC_000023 Reference