AC T09949
XX
ID T09949
XX
DT 24.11.2006 (created); din.
DT 12.07.2013 (updated); sup.
CO Copyright (C), QIAGEN.
XX
FA foxc1
XX
SY FKHL7; 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.
XX
SZ 553 AA; 56.8 kDa (cDNA) (calc.).
XX
SQ MQARYSVSSPNSLGVVPYLGGEQSYYRAAAAAAGGGYTAMPAPMSVYSHPAHAEQYPGGM
SQ ARAYGPYTPQPQPKDMVKPPYSYIALITMAIQNAPDKKITLNGIYQFIMDRFPFYRDNKQ
SQ GWQNSIRHNLSLNECFVKVPRDDKKPGKGSYWTLDPDSYNMFENGSFLRRRRRFKKKDAV
SQ KDKEEKDRLHLKEPPPPGRQPPPAPPEQADGNAPGPQPPPVRIQDIKTENGTCPSPPQPL
SQ SPAAALGSGSAAAVPKIESPDSSSSSLSSGSSPPGSLPSARPLSLDGADSAPPPPAPSAP
SQ PPHHSQGFSVDNIMTSLRGSPQSAAAELSSGLLASAAASSRAGIAPPLALGAYSPGQSSL
SQ YSSPCSQTSSAGSSGGGGGGAGAAGGAGGAGTYHCNLQAMSLYAAGERGGHLQGAPGGAG
SQ GSAVDNPLPDYSLPPVTSSSSSSLSHGGGGGGGGGGQEAGHHPAAHQGRLTSWYLNQAGG
SQ DLGHLASAAAAAAAAGYPGQQQNFHSVREMFESQRIGLNNSPVNGNSSCQMAFPSSQSLY
SQ RTSGAFVYDCSKF
XX
SC translated from EMBL #AF048693
XX
FT 75 524 
PF00478; IMP dehydrogenase / GMP reductase domain.
FT 76 166 
SM00339; forkneu4.
FT 77 168 
fork head domain [8].
FT 78 172 
PS50039; FORK_HEAD_3.
FT 78 173 
PF00250; Fork head domain.
FT 79 79 
essential for DNA binding, important for transactivation [9].
FT 82 82 
essential for DNA binding, important for transactivation [8].
FT 84 92 
helix alpha 1 [8].
FT 86 86 
essential for DNA binding, important for transactivation and nuclear localization [10].
FT 87 87 
important for protein levels [10].
FT 91 91 essential for DNA binding, important for transactivation [9].
FT 91 91 essential for DNA binding, important for transactivation and nuclear localization [10].
FT 101 111 helix alpha 2 [8].
FT 112 112 important for transactivation [8].
FT 114 118 helix alpha 4 [8].
FT 123 133 helix alpha 3 [8].
FT 126 126 essenital for DNA bunding, important for transactivation and nuclear localization [10].
FT 126 126 important for transactivation [8].
FT 127 127 essential for DNA binding, important for transactivation [9].
FT 127 127 essential for DNA binding, important for transactivation and nuclear localization [10].
FT 131 131 essential for DNA binding, important for transactivation [8].
FT 137 139 strand beta 1 [8].
FT 151 153 strand beta 2 [8].
FT 158 164 helix alpha 5 [8].
XX
IN T09966 Pbx1; Mammalia.
XX
MX M07254 V$FOXC1_Q4.
MX M00291 V$FREAC3_01.
XX
BS R19402.
BS R19368.
BS R19403.
BS R19404.
BS R19405.
BS R19406.
BS R19407.
BS R19408.
BS R19409.
BS R19410.
BS R19411.
BS R19412.
BS R19413.
BS R19414.
BS R19415.
BS R19416.
BS R19417.
BS R19418.
BS R19419.
BS R19420.
BS R19475.
BS R19476.
BS R19477.
BS R19478.
BS R19479.
BS R19480.
BS R57019.
XX
DR TRANSPATH: MO000093137.
DR EMBL: AF048693;
DR EMBL: U13221;
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).
RN [11]; RE0066368.
RX PUBMED: 11782474.
RA Berry F. B., Saleem R. A., Walter M. A.
RT FOXC1 transcriptional regulation is mediated by N- and C-terminal activation domains and contains a phosphorylated transcriptional inhibitory domain.
RL J. Biol. Chem. 277:10292-10297 (2002).
XX
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