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Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 2, mRNA.


RefSeq Accession Definition Services Price Order
NM_001449 Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 2, mRNA. ORF Sequence $244.47
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RefSeq Version NM_001449.4, 228480203
Length 2524 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 2, mRNA.
Product four and a half LIM domains protein 1 isoform 2
Comment

Summary: This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. Expression of these family members occurs in a cell- and tissue-specific mode and these proteins are involved in many cellular processes. Mutations in this gene have been found in patients with Emery-Dreifuss muscular dystrophy. Multiple alternately spliced transcript variants which encode different protein isoforms have been described.[provided by RefSeq, Nov 2009].


Transcript Variant: This variant (2) differs in the 5' UTR, 3' UTR, and 3' coding region compared to variant 1. The encoded protein (isoform 2) has a distinct C-terminus and is shorter than isoform 1. Variants 2, 3, 4 and 9 encode the same protein (isoform 2).

RefSeq NP_001440.2
CDS 330..1172
Misc Feature(1)300..302
Misc Feature(2)<342..428
Misc Feature(3)<342..428
Misc Feature(4)order(348..350,357..359,411..413,420..422)
Misc Feature(5)447..608
Misc Feature(6)order(447..449,456..458,513..515,522..524,531..533,
Misc Feature(7)630..803
Misc Feature(8)order(630..632,639..641,696..698,705..707,714..716,
Misc Feature(9)813..971
Misc Feature(10)order(813..815,822..824,873..875,882..884,891..893,
Misc Feature(11)978..1169
Misc Feature(12)order(990..992,999..1001,1065..1067,1074..1076,1083..1085,
Exon (1)1..229
Gene:FHL1
Gene Synonym:FHL-1; FHL1A; FHL1B; FLH1A; KYOT; SLIM; SLIM-1; SLIM1; SLIMMER; XMPMA
Exon (2)230..303
Gene:FHL1
Gene Synonym:FHL-1; FHL1A; FHL1B; FLH1A; KYOT; SLIM; SLIM-1; SLIM1; SLIMMER; XMPMA
Exon (3)304..485
Gene:FHL1
Gene Synonym:FHL-1; FHL1A; FHL1B; FLH1A; KYOT; SLIM; SLIM-1; SLIM1; SLIMMER; XMPMA
Exon (4)486..660
Gene:FHL1
Gene Synonym:FHL-1; FHL1A; FHL1B; FLH1A; KYOT; SLIM; SLIM-1; SLIM1; SLIMMER; XMPMA
Exon (5)661..830
Gene:FHL1
Gene Synonym:FHL-1; FHL1A; FHL1B; FLH1A; KYOT; SLIM; SLIM-1; SLIM1; SLIMMER; XMPMA
Exon (6)831..1017
Gene:FHL1
Gene Synonym:FHL-1; FHL1A; FHL1B; FLH1A; KYOT; SLIM; SLIM-1; SLIM1; SLIMMER; XMPMA
Exon (7)1018..2506
Gene:FHL1
Gene Synonym:FHL-1; FHL1A; FHL1B; FLH1A; KYOT; SLIM; SLIM-1; SLIM1; SLIMMER; XMPMA
Translation MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRF WHDTCFRCAKCLHPLANETFVAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGT VWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAKHCVKCNKAITSGGITYQDQP WHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGFGKGSSVVAY EGQSWHDYCFHCKKCSVNLANKRFVFHQEQVYCPDCAKKL
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Position Chain Variation Link
69+dbSNP:
69+a, cdbSNP:28494155
297+c, gdbSNP:184218793
334+c, tdbSNP:146125558
395+a, gdbSNP:140149764
408+c, tdbSNP:11557265
460+g, tdbSNP:11557264
506+dbSNP:
506+a, cdbSNP:143791173
514+a, gdbSNP:11557267
534+a, gdbSNP:139625615
612+c, tdbSNP:150911744
639+c, tdbSNP:122459147
680+dbSNP:
680+c, tdbSNP:11557266
690+a, gdbSNP:139402062
694+c, gdbSNP:122458140
696+c, tdbSNP:122458142
697+a, tdbSNP:267606812
698+c, gdbSNP:267606813
724+g, tdbSNP:122458143
738+a, gdbSNP:191071512
770+c, tdbSNP:149670651
778+a, gdbSNP:122459146
779+c, tdbSNP:145445372
786+c, tdbSNP:122458144
787+a, gdbSNP:122458145
824+c, tdbSNP:186683837
954+dbSNP:
954+c, tdbSNP:122459149
1001+c, gdbSNP:122458141
1067+dbSNP:
1067+c, tdbSNP:141231353
1075+a, gdbSNP:56391414
1098+a, gdbSNP:190006104
1115+c, gdbSNP:200510559
1152+a, gdbSNP:151315725
1170+g, tdbSNP:122459148
1215+a, gdbSNP:140605116
1545+g, tdbSNP:199720824
1595+a, c, tdbSNP:111336468
1610+c, gdbSNP:150448822
1665+c, tdbSNP:181187092
1799+c, tdbSNP:185874905
1906+a, gdbSNP:190333934
1915+c, tdbSNP:181924843
1981+c, tdbSNP:187265070
2070+a, gdbSNP:9018
2256+g, tdbSNP:1802950
2332+c, gdbSNP:2746
2349+c, tdbSNP:1802951
2492+a, g, tdbSNP:113344027
2493+a, tdbSNP:111506204
2506+a, c, gdbSNP:111893057
Gene SymbolFHL1
Gene SynonymFHL-1; FHL1A; FHL1B; FLH1A; KYOT; SLIM; SLIM-1; SLIM1; SLIMMER; XMPMA
ChromosomeX
Locus MapXq26
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001159699 Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 7, mRNA. Full Length $713.40
ORF Sequence $258.39
NM_001159700 Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 3, mRNA. Full Length $711.95
ORF Sequence $244.47
NM_001159701 Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 5, mRNA. Full Length $675.99
ORF Sequence $269.70
NM_001159702 Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 1, mRNA. Full Length $789.96
ORF Sequence $281.88
NM_001159703 Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 6, mRNA. Full Length $677.73
ORF Sequence $169.65
NM_001159704 Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 4, mRNA. Full Length $842.74
ORF Sequence $244.47
NM_001167819 Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 9, mRNA. Full Length $693.68
ORF Sequence $244.47
NM_001449 Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 2, mRNA. Full Length $731.96
ORF Sequence $244.47
Title Novel FHL1 mutation in a family with reducing body myopathy .
Author Schreckenbach,T., Henn,W., Kress,W., Roos,A., Maschke,M., Feiden,W., Dillmann,U., Schulz,J.B., Weis,J. and Claeys,K.G.
Journal Muscle Nerve 47 (1), 127-134 (2013)
Title Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 gene .
Author Binder,J.S., Weidemann,F., Schoser,B., Niemann,M., Machann,W., Beer,M., Plank,G., Schmidt,A., Bisping,E., Poparic,I., Lafer,I., Stojakovic,T., Quasthoff,S., Vincent,J.B., Rienmueller,R., Speicher,M.R., Berghold,A., Pieske,B. and Windpassinger,C.
Journal Circ Cardiovasc Genet 5 (5), 490-502 (2012)
Title A novel mechanism involving four-and-a-half LIM domain protein-1 and extracellular signal-regulated kinase-2 regulates titin phosphorylation and mechanics .
Author Raskin,A., Lange,S., Banares,K., Lyon,R.C., Zieseniss,A., Lee,L.K., Yamazaki,K.G., Granzier,H.L., Gregorio,C.C., McCulloch,A.D., Omens,J.H. and Sheikh,F.
Journal J. Biol. Chem. 287 (35), 29273-29284 (2012)
Title Consequences of mutations within the C terminus of the FHL1 gene .
Author Schoser,B., Goebel,H.H., Janisch,I., Quasthoff,S., Rother,J., Bergmann,M., Muller-Felber,W. and Windpassinger,C.
Journal Neurology 73 (7), 543-551 (2009)
Title Human four-and-a-half LIM family members suppress tumor cell growth through a TGF-beta-like signaling pathway .
Author Ding,L., Wang,Z., Yan,J., Yang,X., Liu,A., Qiu,W., Zhu,J., Han,J., Zhang,H., Lin,J., Cheng,L., Qin,X., Niu,C., Yuan,B., Wang,X., Zhu,C., Zhou,Y., Li,J., Song,H., Huang,C. and Ye,Q.
Journal J. Clin. Invest. 119 (2), 349-361 (2009)
Title Genomic structure, tissue expression and chromosomal location of the LIM-only gene, SLIM1 .
Author Greene,W.K., Baker,E., Rabbitts,T.H. and Kees,U.R.
Journal Gene 232 (2), 203-207 (1999)
Title The LIM proteins FHL1 and FHL3 are expressed differently in skeletal muscle .
Author Morgan,M.J. and Madgwick,A.J.
Journal Biochem. Biophys. Res. Commun. 255 (2), 245-250 (1999)
Title Chromosomal mapping, tissue distribution and cDNA sequence of four-and-a-half LIM domain protein 1 (FHL1) .
Author Lee,S.M., Tsui,S.K., Chan,K.K., Garcia-Barcelo,M., Waye,M.M., Fung,K.P., Liew,C.C. and Lee,C.Y.
Journal Gene 216 (1), 163-170 (1998)
Title Slim defines a novel family of LIM-proteins expressed in skeletal muscle .
Author Morgan,M.J. and Madgwick,A.J.
Journal Biochem. Biophys. Res. Commun. 225 (2), 632-638 (1996)
Title The developmental regulation of a novel muscle LIM-protein .
Author Morgan,M.J., Madgwick,A.J., Charleston,B., Pell,J.M. and Loughna,P.T.
Journal Biochem. Biophys. Res. Commun. 212 (3), 840-846 (1995)

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