• Gene id: 7942

Gene Summary

• Gene Symbol: TFEB   Gene   UCSC   Ensembl
• Aliases: ALPHATFEB, BHLHE35, TCFEB
• Gene name: transcription factor EB
• Alternate names: transcription factor EB, T-cell transcription factor EB, class E basic helix-loop-helix protein 35,
• Gene location: 6p21.1 (41736222: 41683977)     Exons: 17     NC_000006.12

Protein Summary

• Protein general information: P19484  
  • Name: Transcription factor EB (Class E basic helix loop helix protein 35) (bHLHe35)
  • Length: 476  
  • Mass: 52865
• Sequence:

  MASRIGLRMQLMREQAQQEEQRERMQQQAVMHYMQQQQQQQQQQLGGPPTPAINTPVHFQSPPPVPGEVLKVQSY
  LENPTSYHLQQSQHQKVREYLSETYGNKFAAHISPAQGSPKPPPAASPGVRAGHVLSSSAGNSAPNSPMAMLHIG
  SNPERELDDVIDNIMRLDDVLGYINPEMQMPNTLPLSSSHLNVYSSDPQVTASLVGVTSSSCPADLTQKRELTDA
  ESRALAKERQKKDNHNLIERRRRFNINDRIKELGMLIPKANDLDVRWNKGTILKASVDYIRRMQKDLQKSRELEN
  HSRRLEMTNKQLWLRIQELEMQARVHGLPTTSPSGMNMAELAQQVVKQELPSEEGPGEALMLGAEVPDPEPLPAL
  PPQAPLPLPTQPPSPFHHLDFSHSLSFGGREDEGPPGYPEPLAPGHGSPFPSLSKKDLDLMLLDDSLLPLASDPL
  LSTMSPEASKASSRRSSFSMEEGDVL

• Structural information:
  • Protein Domains: (235..28-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981"-)
  • Interpro: IPR011598  IPR036638  IPR021802  IPR031867  IPR024098  
  • Prosite: PS50888
  • CDD: cd00083
  • DIP: 61625
  • STRING: ENSP00000351742
• Other Databases: GeneCards:  TFEB  Malacards:  TFEB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0034198	cellular response to amino acid starvation	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0034198	cellular response to amino acid starvation	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0007040	lysosome organization	IDA	biological process
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0034198	cellular response to amino acid starvation	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0010468	regulation of gene expression	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0009267	cellular response to starvation	IDA	biological process
GO:0010508	positive regulation of autophagy	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0009267	cellular response to starvation	IDA	biological process
GO:0010508	positive regulation of autophagy	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0009267	cellular response to starvation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0009267	cellular response to starvation	IDA	biological process
GO:0007040	lysosome organization	IMP	biological process
GO:0006959	humoral immune response	ISS	biological process
GO:0032418	lysosome localization	IMP	biological process
GO:0010508	positive regulation of autophagy	IMP	biological process
GO:0001892	embryonic placenta development	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0006959	humoral immune response	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0002250	adaptive immune response	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0006914	autophagy	IEA	biological process
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0005634	nucleus	NAS	cellular component
GO:0003700	DNA-binding transcription factor activity	NAS	molecular function
GO:0006355	regulation of transcription, DNA-templated	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04137	Mitophagy - animal

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881