Q9R210

PR
Gene name
Tfeb
Protein name
Transcription factor EB
Names
Species
Mus musculus (Mouse)
KEGG Pathway
mmu:21425
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

1-475 (Predicted disordered autoinhibitory region) PR

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for Q9R210

Entry ID Method Resolution Chain Position Source
AF-Q9R210-F1 Predicted AlphaFoldDB

17 variants for Q9R210

Variant ID(s) Position Change Description Diseaes Association Provenance
rs3389463557 84 Q>* No EVA
rs3389481044 104 A>D No EVA
rs3389437281 188 S>N No EVA
rs3389485759 198 Q>H No EVA
rs3389417796 224 A>V No EVA
rs3406820383 285 R>L No EVA
rs3407727885 288 Q>* No EVA
rs3389481072 290 D>E No EVA
rs3389448294 313 L>F No EVA
rs3389471970 317 E>D No EVA
rs3389470110 354 G>D No EVA
rs3389417770 367 E>D No EVA
rs3389485783 375 P>T No EVA
rs3389448332 389 P>L No EVA
rs3389468141 395 F>I No EVA
rs3389481085 410 T>A No EVA
rs3389427054 441 L>P No EVA

No associated diseases with Q9R210

4 regional properties for Q9R210

Type Name Position InterPro Accession
domain Myc-type, basic helix-loop-helix (bHLH) domain 234 - 293 IPR011598
domain MiT/TFE transcription factors, C-terminal 320 - 472 IPR021802
domain Transcription factor EB, bHLHzip domain 225 - 315 IPR024098
domain MiT/TFE transcription factors, N-terminal 4 - 161 IPR031867

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
  • Cytoplasm, cytosol
  • Lysosome membrane
  • Mainly present in the cytoplasm (By similarity)
  • When nutrients are present, recruited to the lysosomal membrane via association with GDP-bound RagC/RRAGC (or RagD/RRAGD): it is then phosphorylated by MTOR (By similarity)
  • Phosphorylation by MTOR prevents nuclear translocation and activity by promoting interaction with 14-3-3 proteins, such as YWHAZ (By similarity)
  • Under aberrant lysosomal storage conditions, it translocates from the cytoplasm to the nucleus (By similarity)
  • The translocation to the nucleus is regulated by ATP13A2 (PubMed:27278822)
  • Conversely, inhibition of mTORC1, starvation and lysosomal disruption, promotes dephosphorylation and translocation to the nucleus (By similarity)
  • Exported from the nucleus in response to nutrient availability (By similarity)
  • In macrophages, translocates into the nucleus upon live S
  • enterica infection (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
lysosomal membrane The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
transcription regulator complex A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription.

9 GO annotations of molecular function

Name Definition
DNA binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
DNA-binding transcription activator activity, RNA polymerase II-specific A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II.
DNA-binding transcription factor activity A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons.
DNA-binding transcription factor activity, RNA polymerase II-specific A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
enzyme binding Binding to an enzyme, a protein with catalytic activity.
protein heterodimerization activity Binding to a nonidentical protein to form a heterodimer.
RNA polymerase II cis-regulatory region sequence-specific DNA binding Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
sequence-specific double-stranded DNA binding Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding.
transcription cis-regulatory region binding Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon.

15 GO annotations of biological process

Name Definition
adaptive immune response An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory).
antibacterial innate immune response An defense response against a bacteria mediated through an innate immune response. An innate immune response is mediated by germline encoded components that directly recognize components of potential pathogens.
autophagy The cellular catabolic process in which cells digest parts of their own cytoplasm; allows for both recycling of macromolecular constituents under conditions of cellular stress and remodeling the intracellular structure for cell differentiation.
cellular response to amino acid starvation Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of deprivation of amino acids.
cellular response to starvation Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of deprivation of nourishment.
defense response to Gram-negative bacterium Reactions triggered in response to the presence of a Gram-negative bacterium that act to protect the cell or organism.
embryonic placenta development The embryonically driven process whose specific outcome is the progression of the placenta over time, from its formation to the mature structure. The placenta is an organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin.
humoral immune response An immune response mediated through a body fluid.
lysosome localization Any process in which a lysosome is transported to, and/or maintained in, a specific location.
lysosome organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a lysosome. A lysosome is a cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases.
positive regulation of autophagy Any process that activates, maintains or increases the rate of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm.
positive regulation of DNA-templated transcription Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of transcription by RNA polymerase II Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
regulation of gene expression Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

4 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q15853 USF2 Upstream stimulatory factor 2 Homo sapiens (Human) PR
P19484 TFEB Transcription factor EB Homo sapiens (Human) PR
Q08874 Mitf Microphthalmia-associated transcription factor Mus musculus (Mouse) PR
Q8S3F1 NAI1 Transcription factor NAI1 Arabidopsis thaliana (Mouse-ear cress) PR
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