Homo sapiens Protein: TFEB
Summary
InnateDB Protein IDBP-295010.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TFEB
Protein Name transcription factor EB
Synonyms ALPHATFEB; BHLHE35; TCFEB;
Species Homo sapiens
Ensembl Protein ENSP00000384203
InnateDB Gene IDBG-86793 (TFEB)
Protein Structure
UniProt Annotation
Function 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 TFE3 or MITF. In association with TFE3, 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 and binds the CLEAR-box sequence (5'-GTCACGTGAC-3') present in the regulatory region of many lysosomal genes, leading to activate their expression. It thereby plays a central role in expression of lysosomal genes. Acts as a positive regulator of autophagy by promoting expression of genes involved in autophagy. Specifically recognizes the gamma-E3 box, a subset of E-boxes, present in the heavy-chain immunoglobulin enhancer. Plays a role in the signal transduction processes required for normal vascularization of the placenta. {ECO:0000269PubMed:19556463, ECO:0000269PubMed:23434374}.
Subcellular Localization Cytoplasm. Nucleus. Note=Mainly present in the cytoplasm. Under aberrant lysosomal storage conditions, it translocates from the cytoplasm to the nucleus.
Disease Associations
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 4 [view]
Protein-Protein 3 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0044212 transcription regulatory region DNA binding
GO:0046983 protein dimerization activity
Biological Process
GO:0001892 embryonic placenta development
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006914 autophagy
GO:0006959 humoral immune response
GO:0007040 lysosome organization
GO:0010508 positive regulation of autophagy
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
Protein Structure and Domains
PDB ID
InterPro IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
IPR021802 Basic helix-loop-helix leucine zipper transcrition factor MiT/TFE
PFAM PF00010
PF11851
PRINTS
PIRSF
SMART SM00353
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P19484
PhosphoSite PhosphoSite-P19484
TrEMBL Q86WB1
UniProt Splice Variant
Entrez Gene 7942
UniGene Hs.485360
RefSeq NP_001258874
HUGO HGNC:11753
OMIM 600744
CCDS CCDS4858
HPRD 02847
IMGT
EMBL AJ535461 AJ608786 AJ608787 AJ608790 AJ608791 AJ608793 AK095061 AL035588 AL365205 BC006225 BC032448 CH471081 M33782
GenPept AAA36730 AAH06225 AAH32448 BAG52979 CAD59560 CAD92604 CAE77672 CAE77675 CAE77676 CAE77678 CAE77681 EAX04056 EAX04058