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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001449 Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $348.00 $299.00 10

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RefSeq Version NM_001449.4, 228480203
Length 2524 bp
Structure linear
Update Date 03-MAY-2014
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
437+c, tdbSNP:368235882
460+g, tdbSNP:11557264
475+c, tdbSNP:372301312
506+dbSNP:
506+a, cdbSNP:143791173
514+a, gdbSNP:11557267
534+a, gdbSNP:139625615
590+c, tdbSNP:372049507
612+c, tdbSNP:150911744
639+c, tdbSNP:122459147
672+dbSNP:
672+g, tdbSNP:374479477
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
815+c, tdbSNP:377693754
824+c, tdbSNP:186683837
932+dbSNP:
932+c, tdbSNP:370597064
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
1117+a, gdbSNP:377071251
1152+a, gdbSNP:151315725
1170+g, tdbSNP:122459148
1188+g, tdbSNP:370017771
1215+a, gdbSNP:140605116
1434..1435+, tcdbSNP:372409515
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
2164+c, tdbSNP:368944000
2256+g, tdbSNP:1802950
2299+a, cdbSNP:367747784
2313+g, tdbSNP:372322483
complement(2332)-g, cdbSNP: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 Stock Status Price Turnaround time Business Day Select
NM_001167819 Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 9, mRNA. In-stock $348.00 $299.00 10
NM_001159701 Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 5, mRNA. On-demand $449.00 14
NM_001159699 Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 7, mRNA. On-demand $449.00 14
NM_001449 Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 2, mRNA. In-stock $348.00 $299.00 10
NM_001159702 Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 1, mRNA. On-demand $549.00 14
NM_001159703 Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 6, mRNA. On-demand $399.00 14
NM_001159700 Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 3, mRNA. In-stock $348.00 $299.00 10
NM_001159704 Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 4, mRNA. In-stock $348.00 $299.00 10
XM_006724743 PREDICTED: Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant X1, mRNA. On-demand $549.00 14
XM_006724744 PREDICTED: Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant X2, mRNA. On-demand $549.00 14
XM_006724745 PREDICTED: Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant X3, mRNA. On-demand $549.00 14
XM_006724746 PREDICTED: Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant X4, mRNA. On-demand $549.00 14
XM_006724747 PREDICTED: Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant X5, mRNA. On-demand $449.00 14
Title Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders .
Author Malfatti E, Olive M, Taratuto AL, Richard P, Brochier G, Bitoun M, Gueneau L, Laforet P, Stojkovic T, Maisonobe T, Monges S, Lubieniecki F, Vasquez G, Streichenberger N, Lacene E, Saccoliti M, Prudhon B, Alexianu M, Figarella-Branger D, Schessl J, Bonnemann C, Eymard B, Fardeau M, Bonne G and Romero NB.
Journal J. Neuropathol. Exp. Neurol. 72 (9), 833-845 (2013)
Title Consequences of mutations within the C terminus of the FHL1 gene .
Author Schoser B, Goebel HH, 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 WK, Baker E, Rabbitts TH and Kees UR.
Journal Gene 232 (2), 203-207 (1999)
Title The LIM proteins FHL1 and FHL3 are expressed differently in skeletal muscle .
Author Morgan MJ and Madgwick AJ.
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 SM, Tsui SK, Chan KK, Garcia-Barcelo M, Waye MM, Fung KP, Liew
Journal Gene 216 (1), 163-170 (1998)
Title The developmental regulation of a novel muscle LIM-protein .
Author Morgan MJ, Madgwick AJ, Charleston B, Pell JM and Loughna PT.
Journal Biochem. Biophys. Res. Commun. 212 (3), 840-846 (1995)
Title Myofibrillar Myopathy .
Author Selcen,D. and Engel,A.G.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Hemophagocytic Lymphohistiocytosis, Familial .
Author Zhang,K., Filipovich,A.H., Johnson,J., Marsh,R.A. and Villanueva,J.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Emery-Dreifuss Muscular Dystrophy .
Author Bonne,G., Leturcq,F. and Ben Yaou,R.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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