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Q9R210 (TFEB_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 86. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
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Names and origin

Protein namesRecommended name:
Transcription factor EB
Gene names
Name:Tfeb
Synonyms:Tcfeb
OrganismMus musculus (Mouse)
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length475 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 475475Transcription factor EB
PRO_0000127474

Regions

Domain248 – 28841Helix-loop-helix motif
Domain297 – 31822Leucine-zipper
DNA binding232 – 24716Basic motif Ref.3
Region155 – 16410Strong transcription activation domain Potential
Compositional bias10 – 4334Gln-rich
Compositional bias35 – 439Poly-Gln
Compositional bias363 – 41351Pro-rich

Amino acid modifications

Modified residue1081Phosphoserine By similarity
Modified residue1131Phosphoserine Ref.5
Modified residue1211Phosphoserine Ref.5 Ref.6
Modified residue1331Phosphoserine By similarity
Modified residue1371Phosphoserine By similarity
Modified residue1411Phosphoserine By similarity
Modified residue4661Phosphoserine Ref.4

Sequences

Sequence LengthMass (Da)Tools
Q9R210 [UniParc].

Last modified August 29, 2001. Version 2.
Checksum: 4249C6F501968326

FASTA47552,614
        10         20         30         40         50         60 
MASRIGLRMQ LMREQAQQEE QRERMQQQAV MHYMQQQQQQ QQQLGGPPTP AINTPVHFQS 

        70         80         90        100        110        120 
PPPVPGEVLK VQSYLENPTS YHLQQSQHQK VREYLSETYG NKFAAHVSPA QGSPKPAPAA 

       130        140        150        160        170        180 
SPGVRAGHVL STSAGNSAPN SPMAMLHISS NPEKEFDDVI DNIMRLDSVL GYINPEMQMP 

       190        200        210        220        230        240 
NTLPLSSSHL NVYSGDPQVT ASMVGVTSSS CPADLTQKRE LTDAESRALA KERQKKDNHN 

       250        260        270        280        290        300 
LIERRRRFNI NDRIKELGML IPKANDLDVR WNKGTILKAS VDYIRRMQKD LQKSRELENH 

       310        320        330        340        350        360 
SRRLEMTNKQ LWLRIQELEM QARVHGLPTT SPSGVNMAEL AQQVVKQELP SEDGPGEALM 

       370        380        390        400        410        420 
LGPEVPEPEQ MPALPPQAPL PSAAQPQSPF HHLDFSHGLS FGGGGDEGPT GYPDTLGTEH 

       430        440        450        460        470 
GSPFPNLSKK DLDLMLLDDS LLPLASDPLF STMSPEASKA SSRRSSFSME EGDVL 

« Hide

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.
IPIIPI00314502.
RefSeqNP_001155194.1. NM_001161722.1.
NP_001155195.1. NM_001161723.1.
NP_035679.3. NM_011549.3.
UniGeneMm.2305.

3D structure databases

ProteinModelPortalQ9R210.
SMRQ9R210. Positions 232-296.
ModBaseSearch...

Protein-protein interaction databases

IntActQ9R210. 1 interaction.
STRINGQ9R210.

PTM databases

PhosphoSiteQ9R210.

Proteomic databases

PRIDEQ9R210.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000086932; ENSMUSP00000084151; ENSMUSG00000023990.
ENSMUST00000113288; ENSMUSP00000108913; ENSMUSG00000023990.
GeneID21425.
KEGGmmu:21425.

Organism-specific databases

CTD7942.
MGIMGI:103270. Tfeb.

Phylogenomic databases

GeneTreeENSGT00390000004402.
HOVERGENHBG006768.
InParanoidQ9R210.
OrthoDBEOG469QTV.

Gene expression databases

ArrayExpressQ9R210.
BgeeQ9R210.
CleanExMM_TCFEB.
GenevestigatorQ9R210.
GermOnlineENSMUSG00000023990. Mus musculus.

Family and domain databases

InterProIPR024097. bHLH_ZIP_TF.
IPR021802. bHLH_ZIP_TF_MiT/TFE.
IPR011598. HLH_DNA-bd.
IPR024098. TFEB.
[Graphical view]
Gene3DG3DSA:4.10.280.10. HLH_DNA_bd. 1 hit.
KOK15590.
PANTHERPTHR10014. PTHR10014. 1 hit.
PTHR10014:SF9. PTHR10014:SF9. 1 hit.
PfamPF11851. DUF3371. 1 hit.
PF00010. HLH. 1 hit.
[Graphical view]
SMARTSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMSSF47459. HLH_basic. 1 hit.
PROSITEPS50888. HLH. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

SOURCESearch...

Entry information

Entry nameTFEB_MOUSE
AccessionPrimary (citable) accession number: Q9R210
Entry history
Integrated into UniProtKB/Swiss-Prot: August 29, 2001
Last sequence update: August 29, 2001
Last modified: January 25, 2012
This is version 86 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata 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