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Homo sapiens cardiotrophin-like cytokine factor 1 (CLCF1), transcript variant 1, mRNA.


RefSeq Accession Definition Services Price Order
NM_013246 Homo sapiens cardiotrophin-like cytokine factor 1 (CLCF1), transcript variant 1, mRNA. ORF Sequence $196.62
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RefSeq Version NM_013246.2, 50726992
Length 1860 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens cardiotrophin-like cytokine factor 1 (CLCF1), transcript variant 1, mRNA.
Product cardiotrophin-like cytokine factor 1 isoform 1 precursor
Comment

Summary: This gene is a member of the glycoprotein (gp)130 cytokine family and encodes cardiotrophin-like cytokine factor 1 (CLCF1). CLCF1 forms a heterodimer complex with cytokine receptor-like factor 1 (CRLF1). This dimer competes with ciliary neurotrophic factor (CNTF) for binding to the ciliary neurotrophic factor receptor (CNTFR) complex, and activates the Jak-STAT signaling cascade. CLCF1 can be actively secreted from cells by forming a complex with soluble type I CRLF1 or soluble CNTFR. CLCF1 is a potent neurotrophic factor, B-cell stimulatory agent and neuroendocrine modulator of pituitary corticotroph function. Defects in CLCF1 cause cold-induced sweating syndrome 2 (CISS2). This syndrome is characterized by a profuse sweating after exposure to cold as well as congenital physical abnormalities of the head and spine. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009].


Transcript Variant: This variant (1) encodes the longer isoform (1). Though this isoform has a predicted signal peptide at amino acids 1-27, experiments show it is retained within the cell.

RefSeq NP_037378.1
CDS 197..874
Misc Feature(1)110..112
Misc Feature(2)<362..832
Exon (1)1..212
Gene:CLCF1
Gene Synonym:BSF-3; BSF3; CISS2; CLC; NNT-1; NNT1; NR6
Exon (2)213..379
Gene:CLCF1
Gene Synonym:BSF-3; BSF3; CISS2; CLC; NNT-1; NNT1; NR6
Exon (3)380..1842
Gene:CLCF1
Gene Synonym:BSF-3; BSF3; CISS2; CLC; NNT-1; NNT1; NR6
Translation MDLRAGDSWGMLACLCTVLWHLPAVPALNRTGDPGPGPSIQKTYDLTRYLEHQLRSLAGT YLNYLGPPFNEPDFNPPRLGAETLPRATVDLEVWRSLNDKLRLTQNYEAYSHLLCYLRGL NRQAATAELRRSLAHFCTSLQGLLGSIAGVMAALGYPLPQPLPGTEPTWTPGPAHSDFLQ KMDDFWLLKELQTWLWRSAKDFNRLKKKMQPPAAAVTLHLGAHGF
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Position Chain Variation Link
complement(22..23)-dbSNP:
complement(22..23)-, tdbSNP:35544864
complement(176)-g, cdbSNP:112054504
complement(220)-dbSNP:
complement(220)-t, cdbSNP:141954460
complement(224)-t, cdbSNP:145282707
complement(225)-t, cdbSNP:140222264
complement(242)-t, cdbSNP:137853934
complement(247)-t, cdbSNP:200379623
complement(284)-g, adbSNP:76168219
complement(300)-c, adbSNP:184518539
complement(304)-t, adbSNP:867193
complement(308)-g, adbSNP:140759579
complement(336)-g, cdbSNP:201269564
complement(375)-g, adbSNP:137879055
complement(429)-dbSNP:
complement(429)-t, cdbSNP:145294376
complement(437)-t, cdbSNP:140383361
complement(472)-t, cdbSNP:145660153
complement(487)-g, adbSNP:150131356
complement(517)-c, adbSNP:104894198
complement(554)-g, adbSNP:140841317
complement(561)-t, cdbSNP:151050272
complement(584)-g, adbSNP:142875118
complement(587)-g, adbSNP:140020543
complement(588)-t, cdbSNP:34057094
complement(640)-t, cdbSNP:147960206
complement(677)-g, adbSNP:78755659
complement(678)-g, adbSNP:140991132
complement(680)-g, adbSNP:144403804
complement(696)-g, cdbSNP:149603003
complement(785)-g, cdbSNP:76654399
complement(786)-t, gdbSNP:104894203
complement(851)-g, adbSNP:139364696
complement(856..862)-, agcccccdbSNP:140997186
complement(872)-t, cdbSNP:137853935
complement(1001)-t, cdbSNP:116002422
complement(1018)-t, cdbSNP:73503948
complement(1056)-g, adbSNP:72932728
complement(1116)-g, adbSNP:200395167
complement(1417)-t, cdbSNP:148796566
complement(1482..1483)-, ggtctdbSNP:200359845
complement(1519..1520)-, gdbSNP:35385218
complement(1520)-g, cdbSNP:144359415
complement(1593)-g, cdbSNP:184926921
complement(1629..1630)-, adbSNP:140450526
complement(1703)-, cdbSNP:35896036
Gene SymbolCLCF1
Gene SynonymBSF-3; BSF3; CISS2; CLC; NNT-1; NNT1; NR6
Chromosome11
Locus Map11q13.3
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001166212 Homo sapiens cardiotrophin-like cytokine factor 1 (CLCF1), transcript variant 2, mRNA. Full Length $515.91
ORF Sequence $187.92
NM_013246 Homo sapiens cardiotrophin-like cytokine factor 1 (CLCF1), transcript variant 1, mRNA. Full Length $539.40
ORF Sequence $196.62
Title Ciliary neurotrophic factor, cardiotrophin-like cytokine, and neuropoietin share a conserved binding site on the ciliary neurotrophic factor receptor alpha chain .
Author Rousseau,F., Chevalier,S., Guillet,C., Ravon,E., Diveu,C., Froger,J., Barbier,F., Grimaud,L. and Gascan,H.
Journal J. Biol. Chem. 283 (44), 30341-30350 (2008)
Title Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes .
Author Dagoneau,N., Bellais,S., Blanchet,P., Sarda,P., Al-Gazali,L.I., Di Rocco,M., Huber,C., Djouadi,F., Le Goff,C., Munnich,A. and Cormier-Daire,V.
Journal Am. J. Hum. Genet. 80 (5), 966-970 (2007)
Title Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient .
Author Rousseau,F., Gauchat,J.F., McLeod,J.G., Chevalier,S., Guillet,C., Guilhot,F., Cognet,I., Froger,J., Hahn,A.F., Knappskog,P.M., Gascan,H. and Boman,H.
Journal Proc. Natl. Acad. Sci. U.S.A. 103 (26), 10068-10073 (2006)
Title Transcriptome analysis of human gastric cancer .
Author Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J., Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and Kim,N.S.
Journal Mamm. Genome 16 (12), 942-954 (2005)
Title Two different contact sites are recruited by cardiotrophin-like cytokine (CLC) to generate the CLC/CLF and CLC/sCNTFRalpha composite cytokines .
Author Perret,D., Guillet,C., Elson,G., Froger,J., Plun-Favreau,H., Rousseau,F., Chabbert,M., Gauchat,J.F. and Gascan,H.
Journal J. Biol. Chem. 279 (42), 43961-43970 (2004)
Title Signaling pathways recruited by the cardiotrophin-like cytokine/cytokine-like factor-1 composite cytokine: specific requirement of the membrane-bound form of ciliary neurotrophic factor receptor alpha component .
Author Lelievre,E., Plun-Favreau,H., Chevalier,S., Froger,J., Guillet,C., Elson,G.C., Gauchat,J.F. and Gascan,H.
Journal J. Biol. Chem. 276 (25), 22476-22484 (2001)
Title The ciliary neurotrophic factor receptor alpha component induces the secretion of and is required for functional responses to cardiotrophin-like cytokine .
Author Plun-Favreau,H., Elson,G., Chabbert,M., Froger,J., deLapeyriere,O., Lelievre,E., Guillet,C., Hermann,J., Gauchat,J.F., Gascan,H. and Chevalier,S.
Journal EMBO J. 20 (7), 1692-1703 (2001)
Title CLF associates with CLC to form a functional heteromeric ligand for the CNTF receptor complex .
Author Elson,G.C., Lelievre,E., Guillet,C., Chevalier,S., Plun-Favreau,H., Froger,J., Suard,I., de Coignac,A.B., Delneste,Y., Bonnefoy,J.Y., Gauchat,J.F. and Gascan,H.
Journal Nat. Neurosci. 3 (9), 867-872 (2000)
Title Novel neurotrophin-1/B cell-stimulating factor-3: a cytokine of the IL-6 family .
Author Senaldi,G., Varnum,B.C., Sarmiento,U., Starnes,C., Lile,J., Scully,S., Guo,J., Elliott,G., McNinch,J., Shaklee,C.L., Freeman,D., Manu,F., Simonet,W.S., Boone,T. and Chang,M.S.
Journal Proc. Natl. Acad. Sci. U.S.A. 96 (20), 11458-11463 (1999)
Title Computational EST database analysis identifies a novel member of the neuropoietic cytokine family .
Author Shi,Y., Wang,W., Yourey,P.A., Gohari,S., Zukauskas,D., Zhang,J., Ruben,S. and Alderson,R.F.
Journal Biochem. Biophys. Res. Commun. 262 (1), 132-138 (1999)

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