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Homo sapiens forkhead box C1 (FOXC1), mRNA.


RefSeq Accession Definition Services Price Order
NM_001453 Homo sapiens forkhead box C1 (FOXC1), mRNA. ORF Sequence $481.98
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RefSeq Version NM_001453.2, 119395715
Length 3452 bp
Structure linear
Update Date 07-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens forkhead box C1 (FOXC1), mRNA.
Product forkhead box protein C1
Comment

Summary: This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it has been shown to play a role in the regulation of embryonic and ocular development. Mutations in this gene cause various glaucoma phenotypes including primary congenital glaucoma, autosomal dominant iridogoniodysgenesis anomaly, and Axenfeld-Rieger anomaly. [provided by RefSeq, Jul 2008].


Sequence Note: This RefSeq record was created from genomic sequence data because mRNA transcripts were not available for the full length of the gene. The extent of this transcript is supported by orthologous mouse data.

RefSeq NP_001444.2
CDS 1..1662
Misc Feature(1)232..465
Misc Feature(2)232..465
Misc Feature(3)order(340..345,370..372,379..384,442..444)
Misc Feature(4)703..705
Misc Feature(5)721..723
Misc Feature(6)958..960
Misc Feature(7)1561..1563
Exon (1)1..3452
Gene:FOXC1
Gene Synonym:ARA; FKHL7; FREAC-3; FREAC3; IGDA; IHG1; IRID1; RIEG3
Translation MQARYSVSSPNSLGVVPYLGGEQSYYRAAAAAAGGGYTAMPAPMSVYSHPAHAEQYPGGM ARAYGPYTPQPQPKDMVKPPYSYIALITMAIQNAPDKKITLNGIYQFIMDRFPFYRDNKQ GWQNSIRHNLSLNECFVKVPRDDKKPGKGSYWTLDPDSYNMFENGSFLRRRRRFKKKDAV KDKEEKDRLHLKEPPPPGRQPPPAPPEQADGNAPGPQPPPVRIQDIKTENGTCPSPPQPL SPAAALGSGSAAAVPKIESPDSSSSSLSSGSSPPGSLPSARPLSLDGADSAPPPPAPSAP PPHHSQGFSVDNIMTSLRGSPQSAAAELSSGLLASAAASSRAGIAPPLALGAYSPGQSSL YSSPCSQTSSAGSSGGGGGGAGAAGGAGGAGTYHCNLQAMSLYAAGERGGHLQGAPGGAG GSAVDDPLPDYSLPPVTSSSSSSLSHGGGGGGGGGGQEAGHHPAAHQGRLTSWYLNQAGG DLGHLASAAAAAAAAGYPGQQQNFHSVREMFESQRIGLNNSPVNGNSSCQMAFPSSQSLY RTSGAFVYDCSKF
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Position Chain Variation Link
67+c, tdbSNP:104893952
144+a, gdbSNP:112885689
171+c, gdbSNP:188085399
195+a, gdbSNP:150084174
204+g, tdbSNP:35168188
207+c, g, tdbSNP:35974174
216+a, gdbSNP:200040370
245+c, gdbSNP:104893953
261+c, gdbSNP:104893954
279+c, tdbSNP:141798688
315+c, tdbSNP:201891353
321+c, tdbSNP:201072263
330+c, gdbSNP:146275363
335+c, tdbSNP:104893951
358+c, tdbSNP:121909339
378+c, gdbSNP:104893958
388+c, tdbSNP:121909338
392+c, tdbSNP:104893957
405+c, tdbSNP:2230096
409+c, gdbSNP:9502980
423+c, gdbSNP:142581779
438+c, gdbSNP:144066933
468+a, gdbSNP:200100677
477+c, tdbSNP:200884695
502+c, tdbSNP:148739656
544+a, gdbSNP:142371761
889+c, tdbSNP:79691946
1123..1124+, ggcdbSNP:71807729
1141..1142+, gcgdbSNP:76840944
1267+g, tdbSNP:281865460
1276+a, gdbSNP:1051933
1333+a, cdbSNP:75089353
1443+c, tdbSNP:183970787
1453+c, tdbSNP:76166083
1458+a, c, gdbSNP:1051934
1554+g, tdbSNP:201687238
1563+g, tdbSNP:73406891
1575+g, tdbSNP:139877144
1599+c, tdbSNP:201266312
1603+c, tdbSNP:201942493
1626+c, gdbSNP:145620663
1650+c, tdbSNP:147749489
1651+a, gdbSNP:140891639
1692+c, gdbSNP:199666960
1714+a, gdbSNP:73406893
1740..1741+, adbSNP:71884933
1767+a, cdbSNP:116336796
1971+a, tdbSNP:62390613
2002+c, gdbSNP:181633430
2209+a, gdbSNP:77607008
2238+a, cdbSNP:34877245
2318+, ctttdbSNP:75932839
2396+a, tdbSNP:35717904
2565+g, tdbSNP:35607877
2681+c, gdbSNP:140591342
2754+a, cdbSNP:190526847
2849+a, tdbSNP:984253
2860+a, gdbSNP:182014366
2890+a, cdbSNP:34470720
2913..2914+, aadbSNP:35347817
2952+a, tdbSNP:186543284
3006+a, gdbSNP:2745599
3015+g, tdbSNP:189813928
3108+a, gdbSNP:181076077
3160+c, tdbSNP:3799328
3227+a, gdbSNP:185531077
3293+a, gdbSNP:34380836
Gene SymbolFOXC1
Gene SynonymARA; FKHL7; FREAC-3; FREAC3; IGDA; IHG1; IRID1; RIEG3
Chromosome6
Locus Map6p25
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001453 Homo sapiens forkhead box C1 (FOXC1), mRNA. Full Length $1208.20
ORF Sequence $481.98
Title Overexpression of forkhead box C1 promotes tumor metastasis and indicates poor prognosis in hepatocellular carcinoma .
Author Xia,L., Huang,W., Tian,D., Zhu,H., Qi,X., Chen,Z., Zhang,Y., Hu,H., Fan,D., Nie,Y. and Wu,K.
Journal Hepatology 57 (2), 610-624 (2013)
Title Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene .
Author Delahaye,A., Khung-Savatovsky,S., Aboura,A., Guimiot,F., Drunat,S., Alessandri,J.L., Gerard,M., Bitoun,P., Boumendil,J., Robin,S., Huel,C., Guilherme,R., Serero,S., Gressens,P., Elion,J., Verloes,A., Benzacken,B., Delezoide,A.L. and Pipiras,E.
Journal Am. J. Med. Genet. A 158A (10), 2430-2438 (2012)
Title The forkhead box transcription factor FOXC1 promotes breast cancer invasion by inducing matrix metalloprotease 7 (MMP7) expression .
Author Sizemore,S.T. and Keri,R.A.
Journal J. Biol. Chem. 287 (29), 24631-24640 (2012)
Title FOXC1 contributes to microvascular invasion in primary hepatocellular carcinoma via regulating epithelial-mesenchymal transition .
Author Xu,Z.Y., Ding,S.M., Zhou,L., Xie,H.Y., Chen,K.J., Zhang,W., Xing,C.Y., Guo,H.J. and Zheng,S.S.
Journal Int. J. Biol. Sci. 8 (8), 1130-1141 (2012)
Title Common TGFbeta2, BMP4, and FOXC1 variants are not associated with primary open-angle glaucoma .
Author Park,S., Jamshidi,Y., Vaideanu,D., Fraser,S. and Sowden,J.C.
Journal Mol. Vis. 18, 1526-1539 (2012)
Title Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25 .
Author Gould,D.B., Mears,A.J., Pearce,W.G. and Walter,M.A.
Journal Am. J. Hum. Genet. 61 (3), 765-768 (1997)
Title Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25 .
Author Mears,A.J., Mirzayans,F., Gould,D.B., Pearce,W.G. and Walter,M.A.
Journal Am. J. Hum. Genet. 59 (6), 1321-1327 (1996)
Title Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12) .
Author Larsson,C., Hellqvist,M., Pierrou,S., White,I., Enerback,S. and Carlsson,P.
Journal Genomics 30 (3), 464-469 (1995)
Title Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending .
Author Pierrou,S., Hellqvist,M., Samuelsson,L., Enerback,S. and Carlsson,P.
Journal EMBO J. 13 (20), 5002-5012 (1994)
Title Drosophila forkhead homologues are expressed in a lineage-restricted manner in human hematopoietic cells .
Author Hromas,R., Moore,J., Johnston,T., Socha,C. and Klemsz,M.
Journal Blood 81 (11), 2854-2859 (1993)

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