AC T02471
XX
ID T02471
XX
DT 10.06.1998 (created); tme.
DT 29.07.2014 (updated); sla.
CO Copyright (C), QIAGEN.
XX
FA foxc1
XX
SY FKHL7; Forkhead box protein C1; FREAC3.
XX
OS human, Homo sapiens
OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia; eutheria; primates
XX
GE G006083 FOXC1; HGNC: FOXC1.
XX
CL C0023; fork head; 3.3.1.3.1.
XX
SF threading analysis on the forkhead domain has been performed [8];
SF Molecular models of foxc1 forkhead domain have been constructed [9];
SF Molecular models of foxc1 forkhead domain have been constructed [10];
SF gene is located on chromosome 6p25 [3];
XX
CP (fetal) heart, liver, kidney, weak in brain, lung; (adult) high in heart, kidney, pancreas, peripheric blood leukocytes, medium in liver, skeletal muscle, prostate, ovary, testis, weak in brain, placenta, spleen, colon, leukocytes [6] [2].
CN (fetal) brain, lung; (adult) lung, thymus, small intestine, [6] [2].
XX
FF Upon binding, foxc1 bends DNA approximately 112� [9];
FF substitutions R127K and R127K resulted in a different DNA binding specificity [10];
FF binding of Freac-3/GST fusion protein to recognition sites induced bending of the DNA at an angle of 80-90 degrees;
FF two different mRNAs have been detected in colon, leukocytes and fetal kidney [2];
FF deletions of the distal region (including 6p25) of chromosome 6 result in phenotypes similar to congenital hydrocephalus [4];
FF mutations cause primary congenital glaucoma (PCG) and Axenfeld-Rieger anomaly [5] [6];
XX
IN T06000 Pbx1; human, Homo sapiens.
XX
MX M04234 V$FOXC1_04.
MX M07254 V$FOXC1_Q4.
MX M00291 V$FREAC3_01.
XX
BS R39655.
BS R05067.
BS R57961.
BS R57962.
BS R57965.
XX
DR TRANSPATH: MO000026452.
DR PATHODB: MT010665.
DR PATHODB: MT010666.
DR PATHODB: MT010667.
DR PATHODB: MT010668.
DR PATHODB: MT010669.
DR PATHODB: MT010674.
DR PATHODB: MT010675.
DR PATHODB: MT010676.
DR PATHODB: MT010680.
DR UniProtKB: Q12948;
XX
RN [1]; RE0006655.
RA TRANSFAC_Team.
RT Revisions of transcription factor domains
RL TRANSFAC Reports 1:0002 (1998).
RN [2]; RE0006883.
RX PUBMED: 7957066.
RA Pierrou S., Hellqvist M., Samuelsson L., Enerbaeck S., Carlsson P.
RT Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending
RL EMBO J. 13:5002-5012 (1994).
RN [3]; RE0006884.
RX PUBMED: 8825632.
RA Larsson C., Hellqvist M., Pierrou S., White I., Enerbaeck S., Carlsson P.
RT Chromosomal localization of six human forkhead genes, freac-1(FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12)
RL Genomics 30:464-469 (1995).
RN [4]; RE0006920.
RX PUBMED: 9635428.
RA Kume T., Deng K.-Y., Winfrey V., Gould D. B., Walter M. A., Hogan B. L. M.
RT The Forkhead/Winged Helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus
RL Cell 93:985-996 (1998).
RN [5]; RE0013359.
RX PUBMED: 9620769.
RA Nishimura D. Y., Swiderski R. E., Alward W. L., Searby C. C., Patil S. R., Bennet S. R., Kanis A. B., Gastier J.M., Stone E. M., Sheffield V. C.
RT The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25
RL Nat. Genet. 19:140-147 (1998).
RN [6]; RE0015551.
RX PUBMED: 9792859.
RA Mears A. J., Jordan T., Mirzayans F., Dubois S., Kume T., Parlee M., Ritch R., Koop B., Kuo W. L., Collins C., Marshall J., Gould D. B., Pearce W., Carlsson P., Enerback S., Morissette J., Bhattacharya S., Hogan B., Raymond V., Walter M. A.
RT Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly
RL Am. J. Hum. Genet. 63:1316-1328 (1998).
RN [7]; RE0047186.
RX PUBMED: 15684392.
RA Berry F. B., O'Neill M. A., Coca-Prados M., Walter M. A.
RT FOXC1 transcriptional regulatory activity is impaired by PBX1 in a filamin A-mediated manner
RL Mol. Cell. Biol. 25:1415-24 (2005).
RN [8]; RE0047915.
RX PUBMED: 11179011.
RA Saleem R. A., Banerjee-Basu S., Berry F. B., Baxevanis A. D., Walter M. A.
RT Analyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1.
RL Am. J. Hum. Genet. 68:627-641 (2001).
RN [9]; RE0047918.
RX PUBMED: 14506133.
RA Saleem R. A., Banerjee-Basu S., Berry F. B., Baxevanis A. D., Walter M. A.
RT Structural and functional analyses of disease-causing missense mutations in the forkhead domain of FOXC1.
RL Hum. Mol. Genet. 12:2993-3005 (2003).
RN [10]; RE0047921.
RX PUBMED: 15299087.
RA Saleem R. A., Banerjee-Basu S., Murphy T. C., Baxevanis A., Walter M. A.
RT Essential structural and functional determinants within the forkhead domain of FOXC1.
RL Nucleic Acids Res. 32:4182-4193 (2004).
XX
//