AC T05121
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ID T05121
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DT 21.05.2002 (created); mas.
DT 10.07.2014 (updated); pos.
CO Copyright (C), QIAGEN.
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FA ChREBP
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SY MIO; mlx interactor; Mondo B; MondoB; putative hepatic transcription factor; wbscr14; Williams-Beuren Syndrome Chromosome Region 14 Protein; ws basic-helix- loop-helix leucine zipper protein; ws-bhlh; WS-�TRP.
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OS human, Homo sapiens
OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia; eutheria; primates
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GE G004130 MLXIPL; HGNC: MLXIPL.
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CL C0012; bHLH-ZIP; 1.2.6.6.3.
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SF 40% amino acid identity with mouse TCFL4 [2];
SF probably belongs to group B HLH-protein which bind to CACGTG motif (in E-Box) in DNA due to certain residues in DNA-binding domain (arginin at pos. 662) and thus homology to MAX T05056, T00489>, T01567 in this region [2];
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CP (fetus): liver, kidney [2], generally expressed during late stages [1]; (adult): liver [1] [2], kidney [2] [1] [2].
EX brain,,,adult; high; Northern blot; RNA (undefined); [2].
EX brain,,,adult; very low; Northern blot; RNA (undefined); [2].
EX brain,,,fetal; low; Northern blot; RNA (undefined); [2].
EX brain,,,fetal; very low; Northern blot; RNA (undefined); [2].
EX heart,,,adult; high; Northern blot; RNA (undefined); [2].
EX heart,,,adult; none; Northern blot; RNA (undefined); [2].
EX kidney (right and left),,,adult; low; Northern blot; RNA (undefined); [2].
EX kidney (right and left),,,adult; low; Northern blot; RNA (undefined); [2].
EX kidney (right and left),,,fetal; low; Northern blot; RNA (undefined); [2].
EX kidney (right and left),,,fetal; none; Northern blot; RNA (undefined); [2].
EX liver,,,adult; low; Northern blot; RNA (undefined); [2].
EX liver,,,adult; low; Northern blot; RNA (undefined); [2].
EX liver,,,fetal; low; Northern blot; RNA (undefined); [2].
EX liver,,,fetal; none; Northern blot; RNA (undefined); [2].
EX lung (right and left),,,adult; low; Northern blot; RNA (undefined); [2].
EX lung (right and left),,,adult; none; Northern blot; RNA (undefined); [2].
EX lung (right and left),,,fetal; low; Northern blot; RNA (undefined); [2].
EX lung (right and left),,,fetal; none; Northern blot; RNA (undefined); [2].
EX muscles,,,adult; high; Northern blot; RNA (undefined); [2].
EX muscles,,,adult; none; Northern blot; RNA (undefined); [2].
EX pancreas,,,adult; high; Northern blot; RNA (undefined); [2].
EX pancreas,,,adult; none; Northern blot; RNA (undefined); [2].
EX placenta,,,adult; high; Northern blot; RNA (undefined); [2].
EX placenta,,,adult; none; Northern blot; RNA (undefined); [2].
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FF can function as transcriptional repressor (e.g. together with MLX) [3];
FF probably expressed in the brain [2];
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MX M03789 V$CHREBP_Q6.
MX M08802 V$CHREB_Q6_01.
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BS R39540.
BS R33842.
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DR TRANSPATH: MO000032966.
DR UniProtKB: Q9NP71;
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RN [1]; RE0017804.
RX PUBMED: 10780788.
RA de Luis O., Valero M. C., Jurado L. A.
RT WBSCR14, a putative transcription factor gene deleted in Williams-Beuren syndrome: complete characterisation of the human gene and the mouse ortholog
RL Eur. J. Hum. Genet. 8:215-222 (2000).
RN [2]; RE0017805.
RX PUBMED: 9860302.
RA Meng X., Lu X., Li Z., Green E. D., Massa H., Trask B. J., Morris C. A., Keating M. T.
RT Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes
RL Hum. Genet. 103:590-599 (1998).
RN [3]; RE0017806.
RX PUBMED: 11230181.
RA Cairo S., Merla G., Urbinati F., Ballabio A., Reymond A.
RT WBSCR14, a gene mapping to the Williams--Beuren syndrome deleted region, is a new member of the Mlx transcription factor network
RL Hum. Mol. Genet. 10:617-627 (2001).
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