AC T00812
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ID T00812
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DT 20.10.1992 (created); ewi.
DT 13.03.2014 (updated); spk.
CO Copyright (C), QIAGEN.
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FA tfeb-isoform1
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SY TFEB; transcription factor EB.
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OS human, Homo sapiens
OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia; eutheria; primates
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GE G004670 TFEB; HGNC: TFEB.
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CL C0012; bHLH-ZIP; 1.2.6.1.2.1.
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SZ 476 AA; 52.9 kDa (calc.).
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SQ MASRIGLRMQLMREQAQQEEQRERMQQQAVMHYMQQQQQQQQQQLGGPPTPAINTPVHFQ
SQ SPPPVPGEVLKVQSYLENPTSYHLQQSQHQKVREYLSETYGNKFAAHISPAQGSPKPPPA
SQ ASPGVRAGHVLSSSAGNSAPNSPMAMLHIGSNPERELDDVIDNIMRLDDVLGYINPEMQM
SQ PNTLPLSSSHLNVYSSDPQVTASLVGVTSSSCPADLTQKRELTDAESRALAKERQKKDNH
SQ NLIERRRRFNINDRIKELGMLIPKANDLDVRWNKGTILKASVDYIRRMQKDLQKSRELEN
SQ HSRRLEMTNKQLWLRIQELEMQARVHGLPTTSPSGMNMAELAQQVVKQELPSEEGPGEAL
SQ MLGAEVPDPEPLPALPPQAPLPLPTQPPSPFHHLDFSHSLSFGGREDEGPPGYPEPLAPG
SQ HGSPFPSLSKKDLDLMLLDDSLLPLASDPLLSTMSPEASKASSRRSSFSMEEGDVL
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SC translated from EMBL #AL035588
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FT 233 289 
PS50888; HLH.
FT 236 289 
PF00010; Helix-loop-helix DNA-binding domain.
FT 241 294 
SM00353; finulus.
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SF tfeb-isoform1 is closely related to TFE3;
SF leucine zipper: essential for dimerization [1];
SF free in solution: tetramerization [1];
SF induces DNA bending towards the minor groove to 74-82 deg [4];
SF basic region becomes alpha-helically folded upon binding to DNA (CD) [5];
SF K334, H337, E340, R343: critical for DNA-binding [5];
SF C-terminal part of basic region: clamp, forming phosphate contacts across the major groove framing a base pair contact [5];
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CP transcripts detected in all tissues examined, but with large variations in expression levels between different transcripts and different tissues [6].
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FF increased tfeb-isoform1 expression due to promoter substitution (chromosomal translocation t(6;
FF 11)(p21;
FF q13)) in a subgroup of renal cell carcinomas [7];
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IN T01553 MITF; human, Homo sapiens.
IN T01554 MITF; mouse, Mus musculus.
IN T00814 TFEA-xbb1; mouse, Mus musculus.
IN T00810 TFEA-xbb2; mouse, Mus musculus.
IN T00811 TFEA; human, Homo sapiens.
IN T00812 tfeb-isoform1; human, Homo sapiens.
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MX M01034 V$EBOX_Q6_01.
MX M01029 V$TFE_Q6.
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BS R00992.
BS R02094.
BS R03231.
BS R03232.
BS R03233.
BS R02253.
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DR TRANSPATH: MO000025188.
DR EMBL: AL035588; AL035588.
DR EMBL: M33782;
DR UniProtKB: P19484-1;
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RN [1]; RE0000699.
RX PUBMED: 1748288.
RA Fisher D. E., Carr C. S., Parent L. A., Sharp P. A.
RT TFEB has DNA-binding and oligomerization properties of a unique helix-loop-helix/leucine zipper family
RL Genes Dev. 5:2342-2352 (1991).
RN [2]; RE0001449.
RX PUBMED: 2115126.
RA Carr C. S., Sharp Ph. A.
RT A Helix-Loop-Helix Protein Related to the Immunoglobulin E Box-Binding Proteins
RL Mol. Cell. Biol. 10:4384-4388 (1990).
RN [3]; RE0002511.
RX PUBMED: 2068097.
RA Halazonetis T. D., Kandil A. N.
RT Determination of the C-MYC DNA-binding site
RL Proc. Natl. Acad. Sci. USA 88:6162-6166 (1991).
RN [4]; RE0003338.
RX PUBMED: 1465398.
RA Fisher D. E., Parent L. A., Sharp P. A.
RT Myc/Max and other helix-loop-helix/leucine zipper proteins bend DNA toward the minor groove
RL Proc. Natl. Acad. Sci. USA 89:11779-11783 (1992).
RN [5]; RE0003420.
RX PUBMED: 8431949.
RA Fisher D. E., Parent L. A., Sharp P. A.
RT High affinity DNA-binding Myc analogs: recognition by an alpha helix
RL Cell 72:467-476 (1993).
RN [6]; RE0025424.
RX PUBMED: 15118077.
RA Kuiper R. P., Schepens M., Thijssen J., Schoenmakers E. F., van Kessel A. G.
RT Regulation of the MiTF/TFE bHLH-LZ transcription factors through restricted spatial expression and alternative splicing of functional domains.
RL Nucleic Acids Res. 32:2315-2322 (2004).
RN [7]; RE0025433.
RX PUBMED: 12837690.
RA Kuiper R. P., Schepens M., Thijssen J., van Asseldonk M., van den Berg E., Bridge J., Schuuring E., Schoenmakers E. F., van Kessel A. G.
RT Upregulation of the transcription factor TFEB in t(6;11)(p21;q13)-positive renal cell carcinomas due to promoter substitution.
RL Hum. Mol. Genet. 12:1661-1669 (2003).
XX
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