TFEB transcription factor EB [Homo sapiens] - Gene

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Summary

Official Symbol: TFEBprovided by HGNC
Official Full Name: transcription factor EBprovided by HGNC
Primary source: HGNC:11753
Locus tag: RP4-696P19.3
See related: Ensembl:ENSG00000112561; HPRD:02847; MIM:600744; Vega:OTTHUMG00000014684
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TCFEB; BHLHE35; ALPHATFEB

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Genomic context

Location :: 6p21

Sequence :: Chromosome: 6; NC_000006.11 (41651716..41703997, complement)

See TFEB in Epigenomics, MapViewer

Chromosome 6 - NC_000006.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

When nutrients are present, phosphorylation of TFEB by mTORC1 inhibits TFEB activity.
Title: A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB.
TFEB coordinates the expression of 471 genes network involved in the early and late steps of lysosomal biogenesis.
Title: Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways.
TFEB transcriptionally regulates lysosomal exocytosis both by inducing the release of intracellular Ca2+ through its target gene MCOLN1 and by increasing the population of lysosomes ready to fuse with the plasma membrane.
Title: Transcriptional activation of lysosomal exocytosis promotes cellular clearance.
study found that starvation activates a transcriptional program controlling major steps of the autophagic pathway; TFEB, a master gene for lysosomal biogenesis, coordinated this program by driving expression of autophagy and lysosomal genes
Title: TFEB links autophagy to lysosomal biogenesis.
overexpression of TFE3 or TFEB in renal cell carinomas activates the expression of genes normally regulated by microphthalmia transcription factor in other cell types.
Title: Cathepsin-K immunoreactivity distinguishes MiTF/TFE family renal translocation carcinomas from other renal carcinomas.
TFEB in the neoplastic tissue compared to the normal sample, supports that the fusion gene does not encode for a chimeric protein but causes an upregulation of the wild-type TFEB.
Title: Characterization of t(6;11)(p21;q12) in a renal-cell carcinoma of an adult patient.
This gene fuses with an intronless gene in renal tumors harboring the t(6;11)(p21;q13) chromosome translocation.
Title: Cloning of an Alpha-TFEB fusion in renal tumors harboring the t(6;11)(p21;q13) chromosome translocation.
TFEB protein is a highly sensitive and specific diagnostic marker for these renal neoplasms
Title: Renal carcinomas with the t(6;11)(p21;q12): clinicopathologic features and demonstration of the specific alpha-TFEB gene fusion by immunohistochemistry, RT-PCR, and DNA PCR.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.

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Products	Interactant	Other Gene	Source	Pubs
P19484	O75030	MITF	HPRD	PubMed
P19484	P19532	TFE3	HPRD	PubMed
P19484	Transcription factor EC	TFEC	HPRD	PubMed

Function	Evidence Code	Pubs
DNA binding	IEA Inferred from Electronic Annotation more info
protein heterodimerization activity	IEA Inferred from Electronic Annotation more info
sequence-specific DNA binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
sequence-specific DNA binding transcription factor activity	IEA Inferred from Electronic Annotation more info
sequence-specific DNA binding transcription factor activity	NAS Non-traceable Author Statement more info	PubMed
transcription regulatory region DNA binding	IDA Inferred from Direct Assay more info	PubMed
transcription regulatory region DNA binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
embryonic placenta development	IEA Inferred from Electronic Annotation more info
embryonic placenta development	ISS Inferred from Sequence or Structural Similarity more info
humoral immune response	IEA Inferred from Electronic Annotation more info
humoral immune response	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of transcription from RNA polymerase II promoter	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription from RNA polymerase II promoter	IEA Inferred from Electronic Annotation more info
regulation of transcription, DNA-dependent	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed
nucleus	NAS Non-traceable Author Statement more info	PubMed
transcription factor complex	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: transcription factor EB

Names: transcription factor EB; T-cell transcription factor EB; class E basic helix-loop-helix protein 35

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NCBI Reference Sequences (RefSeq)

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_001167827.1 → NP_001161299.1 transcription factor EB

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AJ608786, AL035588

Consensus CDS

CCDS4858.1

UniProtKB/Swiss-Prot

P19484

Related

ENSP00000384203, ENST00000403298

Conserved Domains (2) summary

cd00083
Location:233 – 293
Blast Score: 149

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:321 – 357
Blast Score: 117

DUF3371; Domain of unknown function (DUF3371)
NM_007162.2 → NP_009093.1 transcription factor EB

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

BC032448

Consensus CDS

CCDS4858.1

UniProtKB/Swiss-Prot

P19484

Related

ENSP00000230323, OTTHUMP00000043542, ENST00000230323, OTTHUMT00000040522

Conserved Domains (2) summary

cd00083
Location:233 – 293
Blast Score: 149

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:321 – 357
Blast Score: 117

DUF3371; Domain of unknown function (DUF3371)

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000006.11 Reference GRCh37.p5 Primary Assembly

Range

41651716..41703997, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000138.1 Alternate HuRef

Range

41370592..41422827, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AJ535461.1	CAD59560.1
genomic	AL035588.21	CAD92604.1
		CAI22453.1
		CAI22454.1
		CAI22455.1
		CAI95733.1
		CAI95734.1
		CAI95735.1
		CAI95736.1
		CAI95737.1
		CAO72131.1
		CAQ07961.1
		CAQ07962.1
genomic	AL365205.35	None
genomic	CH471081.1	EAX04055.1
		EAX04056.1
		EAX04057.1
		EAX04058.1
mRNA	AA235980.1	None
mRNA	AJ608786.1	CAE77681.1
mRNA	AJ608787.1	CAE77672.1
mRNA	AJ608788.1	CAE77673.1
mRNA	AJ608789.1	CAE77674.1
mRNA	AJ608790.1	CAE77675.1
mRNA	AJ608791.2	CAE77676.1
mRNA	AJ608792.1	CAE77677.1
mRNA	AJ608793.1	CAE77678.1
mRNA	AJ608794.1	CAE77679.1
mRNA	AK095061.1	BAG52979.1
mRNA	AK298390.1	BAG60625.1
mRNA	AK310063.1	None
mRNA	BC006225.2	AAH06225.2
mRNA	BC032448.1	AAH32448.1
mRNA	M33782.1	AAA36730.1
other-genetic	EU446667.1	ABZ92196.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P19484.3	GenPept	UniProtKB/Swiss-Prot:P19484
Q709A5	GenPept	UniProtKB/TrEMBL:Q709A5
Q709A8	GenPept	UniProtKB/TrEMBL:Q709A8
Q709A9	GenPept	UniProtKB/TrEMBL:Q709A9
Q709B0	GenPept	UniProtKB/TrEMBL:Q709B0
Q86WB1	GenPept	UniProtKB/TrEMBL:Q86WB1