Tfeb transcription factor EB [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tfebprovided by MGI
Official Full Name: transcription factor EBprovided by MGI
Primary source: MGI:MGI:103270
See related: Ensembl:ENSMUSG00000023990 AllianceGenome:MGI:103270
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Tcfeb; bHLHe35
Summary: Enables DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and protein heterodimerization activity. Involved in several processes, including defense response to Gram-negative bacterium; embryonic placenta development; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within lysosome organization and positive regulation of transcription, DNA-templated. Located in cytoplasm and nucleus. Part of transcription regulator complex. Is expressed in several structures, including cardiovascular system; central nervous system; early conceptus; genitourinary system; and gut gland. Orthologous to human TFEB (transcription factor EB). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in spleen adult (RPKM 26.0), colon adult (RPKM 13.7) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 C; 17 23.99 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (48047962..48103341)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (47737037..47792416)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Erbin accelerates TFEB-mediated lysosome biogenesis and autophagy and alleviates sepsis-induced inflammatory responses and organ injuries.
Title: Erbin accelerates TFEB-mediated lysosome biogenesis and autophagy and alleviates sepsis-induced inflammatory responses and organ injuries.
Impaired TFEB-mediated autophagy-lysosome fusion promotes tubular cell cycle G2/M arrest and renal fibrosis by suppressing ATP6V0C expression and interacting with SNAREs.
Title: Impaired TFEB-mediated autophagy-lysosome fusion promotes tubular cell cycle G2/M arrest and renal fibrosis by suppressing ATP6V0C expression and interacting with SNAREs.
ABCG2 is an itaconate exporter that limits antibacterial innate immunity by alleviating TFEB-dependent lysosomal biogenesis.
Title: ABCG2 is an itaconate exporter that limits antibacterial innate immunity by alleviating TFEB-dependent lysosomal biogenesis.
TFEB drives mTORC1 hyperactivation and kidney disease in Tuberous Sclerosis Complex.
Title: TFEB drives mTORC1 hyperactivation and kidney disease in Tuberous Sclerosis Complex.
TFEB-vacuolar ATPase signaling regulates lysosomal function and microglial activation in tauopathy.
Title: TFEB-vacuolar ATPase signaling regulates lysosomal function and microglial activation in tauopathy.
Abnormal Cholesterol Metabolism and Lysosomal Dysfunction Induce Age-Related Hearing Loss by Inhibiting mTORC1-TFEB-Dependent Autophagy.
Title: Abnormal Cholesterol Metabolism and Lysosomal Dysfunction Induce Age-Related Hearing Loss by Inhibiting mTORC1-TFEB-Dependent Autophagy.
Electroacupuncture ameliorates cognitive impairment in APP/PS1 mouse by modulating TFEB levels to relieve ALP dysfunction.
Title: Electroacupuncture ameliorates cognitive impairment in APP/PS1 mouse by modulating TFEB levels to relieve ALP dysfunction.
Dectin-1/CARD9 induction of the TFEB and TFE3 gene network is dispensable for phagocyte anti-Aspergillus activity in the lung.
Title: Dectin-1/CARD9 induction of the TFEB and TFE3 gene network is dispensable for phagocyte anti-Aspergillus activity in the lung.
TFEB SUMOylation in macrophages accelerates atherosclerosis by promoting the formation of foam cells through inhibiting lysosomal activity.
Title: TFEB SUMOylation in macrophages accelerates atherosclerosis by promoting the formation of foam cells through inhibiting lysosomal activity.
FBXL5 promotes lipid accumulation in alcoholic fatty liver disease by promoting the ubiquitination and degradation of TFEB.
Title: FBXL5 promotes lipid accumulation in alcoholic fatty liver disease by promoting the ubiquitination and degradation of TFEB.

Submit: New GeneRIF Correction See all GeneRIFs (118)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1) 1 citation
Targeted (5) 1 citation
Endonuclease-mediated (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Tcfeb (e-PCR), detects polymorphism
- UniSTS:532255

REN60515 (e-PCR)
- UniSTS:385315

REN60529 (e-PCR)
- UniSTS:385329

PMC123673P1 (e-PCR)
- UniSTS:270456

Tcfeb (e-PCR), detects polymorphism
- UniSTS:144569

Tcfeb (e-PCR), detects polymorphism
- UniSTS:144570

Tcfeb (e-PCR), detects polymorphism
- UniSTS:144571

Tcfeb (e-PCR), detects polymorphism
- UniSTS:144572

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info
enables protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription cis-regulatory region binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within adaptive immune response	IEA Inferred from Electronic Annotation more info
involved_in antibacterial innate immune response	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within autophagy	IEA Inferred from Electronic Annotation more info
involved_in cellular response to amino acid starvation	ISO Inferred from Sequence Orthology more info
involved_in cellular response to starvation	ISO Inferred from Sequence Orthology more info
involved_in defense response to Gram-negative bacterium	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic placenta development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in humoral immune response	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within immune system process	IEA Inferred from Electronic Annotation more info
involved_in lysosome localization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lysosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lysosome organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of autophagy	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
located_in lysosome	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	ISO Inferred from Sequence Orthology more info
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: transcription factor EB

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001161722.1 → NP_001155194.1 transcription factor EB isoform b

See identical proteins and their annotated locations for NP_001155194.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode isoform b.

Source sequence(s)

AC113536, AC124830, AK078755, BC064789

Consensus CDS

CCDS50133.1

UniProtKB/Swiss-Prot

Q9R210

UniProtKB/TrEMBL

Q3U327

Related

ENSMUSP00000084151.4, ENSMUST00000086932.10

Conserved Domains (3) summary

pfam11851
Location:320 → 472

DUF3371; Domain of unknown function (DUF3371)

pfam15951
Location:4 → 161

MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

cd18927
Location:225 → 315

bHLHzip_TFEB; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in transcription factor EB (TFEB) and similar proteins
NM_001161723.1 → NP_001155195.1 transcription factor EB isoform b

See identical proteins and their annotated locations for NP_001155195.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode isoform b.

Source sequence(s)

AC113536, AC124830, AK078755, BC064789

Consensus CDS

CCDS50133.1

UniProtKB/Swiss-Prot

Q9R210

UniProtKB/TrEMBL

Q3U327

Related

ENSMUSP00000108913.2, ENSMUST00000113288.8

Conserved Domains (3) summary

pfam11851
Location:320 → 472

DUF3371; Domain of unknown function (DUF3371)

pfam15951
Location:4 → 161

MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

cd18927
Location:225 → 315

bHLHzip_TFEB; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in transcription factor EB (TFEB) and similar proteins
NM_011549.3 → NP_035679.3 transcription factor EB isoform a

See identical proteins and their annotated locations for NP_035679.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a).

Source sequence(s)

AC113536, AK146016, BC064789

Consensus CDS

CCDS28856.1

UniProtKB/TrEMBL

Q3UKG7, Q6P203

Related

ENSMUSP00000024786.8, ENSMUST00000024786.14

Conserved Domains (3) summary

cd00083
Location:291 → 351

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

pfam11851
Location:379 → 531

DUF3371; Domain of unknown function (DUF3371)

pfam15951
Location:63 → 219

MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000083.7 Reference GRCm39 C57BL/6J

Range

48047962..48103341

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006524007.5 → XP_006524070.1 transcription factor EB isoform X1

See identical proteins and their annotated locations for XP_006524070.1

UniProtKB/Swiss-Prot

Q9R210

UniProtKB/TrEMBL

Q3U327

Conserved Domains (3) summary

pfam11851
Location:320 → 472

DUF3371; Domain of unknown function (DUF3371)

pfam15951
Location:4 → 161

MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

cd18927
Location:225 → 315

bHLHzip_TFEB; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in transcription factor EB (TFEB) and similar proteins
XM_006524006.4 → XP_006524069.1 transcription factor EB isoform X1

See identical proteins and their annotated locations for XP_006524069.1

UniProtKB/Swiss-Prot

Q9R210

UniProtKB/TrEMBL

Q3U327

Conserved Domains (3) summary

pfam11851
Location:320 → 472

DUF3371; Domain of unknown function (DUF3371)

pfam15951
Location:4 → 161

MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

cd18927
Location:225 → 315

bHLHzip_TFEB; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in transcription factor EB (TFEB) and similar proteins
XM_006524004.1 → XP_006524067.1 transcription factor EB isoform X2

UniProtKB/TrEMBL

Q3U327

Conserved Domains (3) summary

pfam11851
Location:355 → 507

DUF3371; Domain of unknown function (DUF3371)

pfam15951
Location:39 → 196

MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

cd18927
Location:260 → 350

bHLHzip_TFEB; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in transcription factor EB (TFEB) and similar proteins
XM_006524003.4 → XP_006524066.2 transcription factor EB isoform X1

See identical proteins and their annotated locations for XP_006524066.2

UniProtKB/Swiss-Prot

Q9R210

UniProtKB/TrEMBL

Q3U327

Conserved Domains (3) summary

pfam11851
Location:320 → 472

DUF3371; Domain of unknown function (DUF3371)

pfam15951
Location:4 → 161

MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

cd18927
Location:225 → 315

bHLHzip_TFEB; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in transcription factor EB (TFEB) and similar proteins