Homo sapiens Protein: TFEB
Summary
InnateDB Protein IDBP-378360.5
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 ENSP00000412551
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 Q709A8
UniProt Splice Variant
Entrez Gene 7942
UniGene Hs.485360
RefSeq NP_001258872
HUGO HGNC:11753
OMIM 600744
CCDS CCDS64424
HPRD 02847
IMGT
EMBL AJ608786 AJ608787 AJ608791 AL035588 AL365205 BC006225 BC032448 M33782
GenPept AAA36730 AAH06225 AAH32448 CAD92604 CAE77672 CAE77676 CAE77681