Reviewed, UniProtKB/Swiss-Prot P19484 (TFEB_HUMAN)

Names and origin

Protein names

Recommended name:
    Transcription factor EB

Gene names

Name:

TFEB

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	476 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Probable transcription factor binds to the USF/MLTF site and probably recognizes E-box sequences in the heavy-chain immunoglobulin enhancer.
Subunit structure	Efficient DNA binding requires dimerization with another bHLH protein.
Subcellular location	Nucleus.
Sequence similarities	Belongs to the MiT/TFE family. Contains 1 basic helix-loop-helix (bHLH) domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Ligand	DNA-binding
PTM	Phosphoprotein
Gene Ontology (GO)
Biological process	transcription Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	transcription factor activity Ref.1 Non-traceable author statement. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P19484-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: P19484-2)

The sequence of this isoform differs from the canonical sequence as follows:
     72-156: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 476	476	Transcription factor EB		PRO_0000127473
Regions
	Domain	249 – 289	41	Helix-loop-helix motif
	Domain	298 – 319	22	Leucine-zipper Potential
	DNA binding	233 – 248	16	Basic motif
	Region	156 – 165	10	Strong transcription activation domain Potential
	Compositional bias	10 – 44	35	Gln-rich
	Compositional bias	35 – 44	10	Poly-Gln
	Compositional bias	366 – 414	49	Pro-rich
Amino acid modifications
	Modified residue	109	1	Phosphoserine Ref.5
	Modified residue	114	1	Phosphoserine Ref.5
	Modified residue	122	1	Phosphoserine Ref.5
	Modified residue	133	1	Phosphoserine Ref.5
	Modified residue	134	1	Phosphoserine Ref.5
	Modified residue	138	1	Phosphoserine Ref.5
	Modified residue	142	1	Phosphoserine Ref.5
	Modified residue	467	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	72 – 156	85	Missing in isoform 2.		VSP_002159
Experimental info
	Sequence conflict	106	1	A → AA in AAA36730. Ref.1
	Sequence conflict	113 – 141	29	GSPKP…NSAPN → ALRNPHQPPPQGCELDTCCP PPLATVLPI in AAA36730. Ref.1
	Sequence conflict	168 – 170	3	DDV → TMS in AAA36730. Ref.1
	Sequence conflict	415 – 476	62	EPLAP…EGDVL → DRN Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified August 29, 2001. Version 3. Checksum: 093AE3B79C760D99	FASTA	476	52,865
	10 20 30 40 50 60 MASRIGLRMQ LMREQAQQEE QRERMQQQAV MHYMQQQQQQ QQQQLGGPPT PAINTPVHFQ 70 80 90 100 110 120 SPPPVPGEVL KVQSYLENPT SYHLQQSQHQ KVREYLSETY GNKFAAHISP AQGSPKPPPA 130 140 150 160 170 180 ASPGVRAGHV LSSSAGNSAP NSPMAMLHIG SNPERELDDV IDNIMRLDDV LGYINPEMQM 190 200 210 220 230 240 PNTLPLSSSH LNVYSSDPQV TASLVGVTSS SCPADLTQKR ELTDAESRAL AKERQKKDNH 250 260 270 280 290 300 NLIERRRRFN INDRIKELGM LIPKANDLDV RWNKGTILKA SVDYIRRMQK DLQKSRELEN 310 320 330 340 350 360 HSRRLEMTNK QLWLRIQELE MQARVHGLPT TSPSGMNMAE LAQQVVKQEL PSEEGPGEAL 370 380 390 400 410 420 MLGAEVPDPE PLPALPPQAP LPLPTQPPSP FHHLDFSHSL SFGGREDEGP PGYPEPLAPG 430 440 450 460 470 HGSPFPSLSK KDLDLMLLDD SLLPLASDPL LSTMSPEASK ASSRRSSFSM EEGDVL
	Isoform 2. Checksum: 9B43BAA84C5517B2	FASTA	391	43,803
	10 20 30 40 50 60 MASRIGLRMQ LMREQAQQEE QRERMQQQAV MHYMQQQQQQ QQQQLGGPPT PAINTPVHFQ 70 80 90 100 110 120 SPPPVPGEVL KLDDVIDNIM RLDDVLGYIN PEMQMPNTLP LSSSHLNVYS SDPQVTASLV 130 140 150 160 170 180 GVTSSSCPAD LTQKRELTDA ESRALAKERQ KKDNHNLIER RRRFNINDRI KELGMLIPKA 190 200 210 220 230 240 NDLDVRWNKG TILKASVDYI RRMQKDLQKS RELENHSRRL EMTNKQLWLR IQELEMQARV 250 260 270 280 290 300 HGLPTTSPSG MNMAELAQQV VKQELPSEEG PGEALMLGAE VPDPEPLPAL PPQAPLPLPT 310 320 330 340 350 360 QPPSPFHHLD FSHSLSFGGR EDEGPPGYPE PLAPGHGSPF PSLSKKDLDL MLLDDSLLPL 370 380 390 ASDPLLSTMS PEASKASSRR SSFSMEEGDV L

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A helix-loop-helix protein related to the immunoglobulin E box-binding proteins." Carr C.S., Sharp P.A. Mol. Cell. Biol. 10:4384-4388(1990) [PubMed: 2115126] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2). Tissue: B-cell.
[2]	"Regulation of the MiTF/TFE bHLH-LZ transcription factors through restricted spatial expression and alternative splicing of functional domains." Kuiper R.P., Schepens M., Thijssen J., Schoenmakers E.F.P.M., Geurts van Kessel A. Nucleic Acids Res. 32:2315-2322(2004) [PubMed: 15118077] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Kidney.
[3]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed: 14574404] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 58-476 (ISOFORM 2). Tissue: Brain and Lung.
[5]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-109; SER-114; SER-122; SER-133; SER-134; SER-138 AND SER-142, MASS SPECTROMETRY.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBLGenBankDDBJ	M33782 mRNA. Translation: AAA36730.1. Different initiation. AJ608786 mRNA. Translation: CAE77681.1. Different initiation. AL035588 Genomic DNA. Translation: CAD92604.1. BC006225 mRNA. Translation: AAH06225.2. BC032448 mRNA. Translation: AAH32448.1.
IPI	IPI00385436. IPI00465427.
PIR	A35658.
RefSeq	NP_009093.1.
UniGene	Hs.485360
3D structure databases
HSSP	HSSP built from PDB template 1AM9 based on UniProtKB P36956.
ModBase	Search...
PTM databases
PhosphoSite	P19484.
Genome annotation databases
Ensembl	ENSG00000112561. Homo sapiens. [Contig view]
GeneID	7942.
KEGG	hsa:7942.
Organism-specific databases
GeneCards	GC06M041759.
H-InvDB	HIX0005869.
HGNC	HGNC:11753. TFEB.
MIM	600744. gene.
PharmGKB	PA36468.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	P19484.
HOVERGEN	P19484.
Gene expression databases
ArrayExpress	P19484.
Bgee	P19484.
CleanEx	HS_TFEB.
GermOnline	ENSG00000112561. Homo sapiens.
Family and domain databases
InterPro	IPR001092. HLH_basic. IPR011598. HLH_DNA_bd. [Graphical view]
Gene3D	G3DSA:4.10.280.10. HLH_DNA_bd. 1 hit.
Pfam	PF00010. HLH. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. [Graphical view]
PROSITE	PS50888. HLH. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	30462.
SOURCE	Search...

Entry information

Entry name

TFEB_HUMAN

Accession

Primary (citable) accession number: P19484
Secondary accession number(s): Q709B3 , Q7Z6P9, Q9BRJ5, Q9UJD8

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 1991
Last sequence update:	August 29, 2001
Last modified:	June 16, 2009
This is version 93 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)