Q9R210 (TFEB_MOUSE) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 86.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Transcription factor EB | ||||
| Gene names |
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| Organism | Mus musculus (Mouse) | ||||
| Taxonomic identifier | 10090 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus |
Protein attributes
| Sequence length | 475 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Transcription factor that specifically recognizes and binds E-box sequences (3'-CANNTG-5'). 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. 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. Ref.2 Ref.3 |
| Subunit structure | Homodimer and heterodimer; with TFE3 or MITF By similarity. |
| Subcellular location | Cytoplasm By similarity. Nucleus By similarity. Note: Mainly present in the cytoplasm. Under aberrant lysosomal storage conditions, it translocates from the cytoplasm to the nucleus By similarity. |
| Tissue specificity | Widely expressed. Ref.3 |
| Developmental stage | Expressed at low levels in the embryo but at high levels in the labyrinthine trophoblast cells of the placenta. Ref.2 |
| Domain | The leucin zipper region is essential for homo- or heterodimerization and high-affinity DNA binding. DNA binding is mediated by the basic region By similarity. |
| Post-translational modification | Sumoylated; does not affect dimerization with MITF By similarity. |
| Disruption phenotype | Death between 9.5 and 10.5 days in embryonic development. Embryos display severe defects in placental vascularization. The embryonic vasculature forms normally but few vessels are seen entering the placenta and those that do enter fail to thrive and branch normally. Ref.2 |
| Sequence similarities | Belongs to the MiT/TFE family. Contains 1 basic helix-loop-helix (bHLH) domain. |
| Sequence caution | The sequence AAD20979.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 475 | 475 | Transcription factor EB | PRO_0000127474 | |||||
Regions | |||||||||
| Domain | 248 – 288 | 41 | Helix-loop-helix motif | ||||||
| Domain | 297 – 318 | 22 | Leucine-zipper | ||||||
| DNA binding | 232 – 247 | 16 | Basic motif Ref.3 | ||||||
| Region | 155 – 164 | 10 | Strong transcription activation domain Potential | ||||||
| Compositional bias | 10 – 43 | 34 | Gln-rich | ||||||
| Compositional bias | 35 – 43 | 9 | Poly-Gln | ||||||
| Compositional bias | 363 – 413 | 51 | Pro-rich | ||||||
Amino acid modifications | |||||||||
| Modified residue | 108 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 113 | 1 | Phosphoserine Ref.5 | ||||||
| Modified residue | 121 | 1 | Phosphoserine Ref.5 Ref.6 | ||||||
| Modified residue | 133 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 137 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 141 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 466 | 1 | Phosphoserine Ref.4 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Cloning and characterization of the murine genes for bHLH-ZIP transcription factors TFEC and TFEB reveal a common gene organization for all MiT subfamily members." Rehli M., Den Elzen N., Cassady A.I., Ostrowski M.C., Hume D.A. Genomics 56:111-120(1999) [PubMed: 10036191] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Strain: BALB/c. |
| [2] | "The bHLH-Zip transcription factor Tfeb is essential for placental vascularization." Steingrimsson E., Tessarollo L., Reid S.W., Jenkins N.A., Copeland N.G. Development 125:4607-4616(1998) [PubMed: 9806910] [Abstract] Cited for: FUNCTION, DISRUPTION PHENOTYPE, DEVELOPMENTAL STAGE. |
| [3] | "Transcription factors TFE3 and TFEB are critical for CD40 ligand expression and thymus-dependent humoral immunity." Huan C., Kelly M.L., Steele R., Shapira I., Gottesman S.R.S., Roman C.A.J. Nat. Immunol. 7:1082-1091(2006) [PubMed: 16936731] [Abstract] Cited for: FUNCTION, DNA-BINDING, TISSUE SPECIFICITY. |
| [4] | "Large-scale phosphorylation analysis of mouse liver." Villen J., Beausoleil S.A., Gerber S.A., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 104:1488-1493(2007) [PubMed: 17242355] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-466, MASS SPECTROMETRY. Tissue: Liver. |
| [5] | "Solid tumor proteome and phosphoproteome analysis by high resolution mass spectrometry." Zanivan S., Gnad F., Wickstroem S.A., Geiger T., Macek B., Cox J., Faessler R., Mann M. J. Proteome Res. 7:5314-5326(2008) [PubMed: 19367708] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-113 AND SER-121, MASS SPECTROMETRY. Tissue: Melanoma. |
| [6] | "The phagosomal proteome in interferon-gamma-activated macrophages." Trost M., English L., Lemieux S., Courcelles M., Desjardins M., Thibault P. Immunity 30:143-154(2009) [PubMed: 19144319] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-121, MASS SPECTROMETRY. Tissue: Macrophage. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF079095 mRNA. Translation: AAD20979.1. Different initiation. |
| IPI | IPI00314502. |
| RefSeq | NP_001155194.1. NM_001161722.1. NP_001155195.1. NM_001161723.1. NP_035679.3. NM_011549.3. |
| UniGene | Mm.2305. |
3D structure databases | |
| ProteinModelPortal | Q9R210. |
| SMR | Q9R210. Positions 232-296. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9R210. 1 interaction. |
| STRING | Q9R210. |
PTM databases | |
| PhosphoSite | Q9R210. |
Proteomic databases | |
| PRIDE | Q9R210. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENSMUST00000086932; ENSMUSP00000084151; ENSMUSG00000023990. ENSMUST00000113288; ENSMUSP00000108913; ENSMUSG00000023990. |
| GeneID | 21425. |
| KEGG | mmu:21425. |
Organism-specific databases | |
| CTD | 7942. |
| MGI | MGI:103270. Tfeb. |
Phylogenomic databases | |
| GeneTree | ENSGT00390000004402. |
| HOVERGEN | HBG006768. |
| InParanoid | Q9R210. |
| OrthoDB | EOG469QTV. |
Gene expression databases | |
| ArrayExpress | Q9R210. |
| Bgee | Q9R210. |
| CleanEx | MM_TCFEB. |
| Genevestigator | Q9R210. |
| GermOnline | ENSMUSG00000023990. Mus musculus. |
Family and domain databases | |
| InterPro | IPR024097. bHLH_ZIP_TF. IPR021802. bHLH_ZIP_TF_MiT/TFE. IPR011598. HLH_DNA-bd. IPR024098. TFEB. [Graphical view] |
| Gene3D | G3DSA:4.10.280.10. HLH_DNA_bd. 1 hit. |
| KO | K15590. |
| PANTHER | PTHR10014. PTHR10014. 1 hit. PTHR10014:SF9. PTHR10014:SF9. 1 hit. |
| Pfam | PF11851. DUF3371. 1 hit. PF00010. HLH. 1 hit. [Graphical view] |
| SMART | SM00353. HLH. 1 hit. [Graphical view] |
| SUPFAM | SSF47459. HLH_basic. 1 hit. |
| PROSITE | PS50888. HLH. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| SOURCE | Search... |
Entry information
| Entry name | TFEB_MOUSE | ||||||||
| Accession | Primary (citable) accession number: Q9R210 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
Relevant documents
| MGD cross-references Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with