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Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_005159 Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA. GenEZ ORF Cloning In-stock $418.00 $369.00 10

*Business Day

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RefSeq Version NM_005159.4, 113722123
Length 3693 bp
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA.
Product actin, alpha cardiac muscle 1 proprotein
Comment

Summary: Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC). [provided by RefSeq, Jul 2008].

RefSeq NP_005150.1
CDS 244..1377
Misc Feature(1)229..231
Misc Feature(2)229..231
Misc Feature(3)256..1374
Misc Feature(4)271..792
Misc Feature(5)order(280..291,295..297,301..303,658..660,709..720)
Misc Feature(6)499..501
Exon (1)1..221
Gene:ACTC1
Gene Synonym:ACTC; ASD5; CMD1R; CMH11; LVNC4
Exon (2)222..372
Gene:ACTC1
Gene Synonym:ACTC; ASD5; CMD1R; CMH11; LVNC4
Exon (3)373..697
Gene:ACTC1
Gene Synonym:ACTC; ASD5; CMD1R; CMH11; LVNC4
Exon (4)698..859
Gene:ACTC1
Gene Synonym:ACTC; ASD5; CMD1R; CMH11; LVNC4
Exon (5)860..1051
Gene:ACTC1
Gene Synonym:ACTC; ASD5; CMD1R; CMH11; LVNC4
Exon (6)1052..1233
Gene:ACTC1
Gene Synonym:ACTC; ASD5; CMD1R; CMH11; LVNC4
Exon (7)1234..3693
Gene:ACTC1
Gene Synonym:ACTC; ASD5; CMD1R; CMH11; LVNC4
Translation MCDDEETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEA QSKRGILTLKYPIEHGIITNWDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREK MTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRL DLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNV LSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWIS KQEYDEAGPSIVHRKCF
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Position Chain Variation Link
complement(16)-dbSNP:
complement(16)-t, gdbSNP:370499568
complement(187)-t, g, adbSNP:113178069
194+c, tdbSNP:139691739
complement(210)-c, adbSNP:374056306
complement(232)-t, cdbSNP:372036883
250+c, gdbSNP:397517069
271+a, cdbSNP:397517057
complement(276)-t, cdbSNP:368212410
310+c, tdbSNP:193922681
complement(318)-t, gdbSNP:144819872
326+c, tdbSNP:397517072
385+dbSNP:
385+a, cdbSNP:76508081
complement(408)-g, adbSNP:149432225
complement(423)-g, adbSNP:370322510
457..473+, cccatcgagcatggtatdbSNP:387906585
complement(462)-g, adbSNP:376566924
472+a, gdbSNP:397517056
complement(489)-g, adbSNP:373261583
511+c, tdbSNP:121912676
complement(513)-g, adbSNP:138812333
537+a, gdbSNP:397517058
complement(543)-g, adbSNP:141322728
544+a, gdbSNP:193922680
553+c, tdbSNP:397517059
598+c, gdbSNP:397517060
615+c, gdbSNP:397517061
616+a, gdbSNP:121912677
complement(648)-g, adbSNP:181479041
708+dbSNP:
708+a, gdbSNP:397517062
718+a, gdbSNP:397517063
739+c, gdbSNP:267606628
complement(741)-g, adbSNP:370082904
complement(756)-g, adbSNP:145023222
759+c, tdbSNP:397517064
complement(765)-g, cdbSNP:149768491
complement(779)-c, adbSNP:201921957
796+c, tdbSNP:397517065
complement(866)-dbSNP:
complement(866)-t, cdbSNP:142839840
complement(876)-g, adbSNP:199947846
878+a, gdbSNP:397517067
complement(960)-t, cdbSNP:369019849
complement(999)-g, adbSNP:371940910
complement(1019)-g, cdbSNP:199566566
1041+c, tdbSNP:397517068
1049+c, tdbSNP:397517071
complement(1073)-dbSNP:
complement(1073)-t, cdbSNP:113513162
complement(1086)-g, adbSNP:368010998
1093+a, tdbSNP:397517073
1132+g, tdbSNP:121912675
complement(1146)-t, cdbSNP:138347995
1161+a, tdbSNP:397517074
1184+a, gdbSNP:121912673
1240+dbSNP:
1240+c, gdbSNP:267606629
complement(1275)-g, cdbSNP:113835687
complement(1296)-t, g, cdbSNP:151321743
complement(1328)-t, gdbSNP:375435815
1331+a, gdbSNP:121912674
complement(1335)-g, adbSNP:140261885
complement(1342)-t, cdbSNP:370256882
complement(1393)-g, adbSNP:201258118
complement(1397)-t, adbSNP:143407466
1399+c, tdbSNP:28730667
complement(1403)-g, adbSNP:373997876
1416+c, tdbSNP:3729758
complement(1417)-t, cdbSNP:377546862
complement(1422)-g, adbSNP:374252209
complement(1423)-t, gdbSNP:370919129
complement(1492)-g, adbSNP:367884939
1514+a, tdbSNP:149031785
complement(1646)-g, adbSNP:74009720
1765+a, gdbSNP:1370154
1849+c, tdbSNP:1370155
complement(1895)-t, cdbSNP:115295911
complement(1922)-t, cdbSNP:147572632
complement(2065)-c, adbSNP:116184851
complement(2134)-t, cdbSNP:78727649
2158+c, tdbSNP:145085048
complement(2223)-t, cdbSNP:78596978
complement(2226)-t, cdbSNP:374736519
complement(2230)-g, adbSNP:12904588
complement(2233)-t, cdbSNP:79104010
complement(2245)-c, adbSNP:80139141
complement(2252)-g, cdbSNP:73387693
complement(2295)-, tdbSNP:34323254
complement(2295)-t, cdbSNP:201867681
complement(2333)-g, adbSNP:76039064
complement(2381)-t, cdbSNP:116034611
complement(2416)-t, cdbSNP:589759
complement(2453)-g, cdbSNP:7183591
complement(2596)-g, adbSNP:139559367
complement(2639)-g, cdbSNP:189725849
complement(2790)-g, adbSNP:147815755
complement(2822)-g, cdbSNP:8037241
complement(2836)-g, adbSNP:149715837
complement(2890)-g, adbSNP:113063427
complement(2985)-t, cdbSNP:112420026
complement(2994)-t, cdbSNP:181221098
complement(2998)-t, adbSNP:189953579
complement(3051)-g, adbSNP:112660730
complement(3059)-t, cdbSNP:533021
complement(3255)-g, adbSNP:117033977
complement(3270)-g, adbSNP:185151197
complement(3319)-t, gdbSNP:181638011
complement(3430)-c, adbSNP:79955486
complement(3467)-t, cdbSNP:604689
complement(3468)-t, cdbSNP:112920084
complement(3469)-t, cdbSNP:142735669
complement(3579)-t, cdbSNP:188953722
complement(3581)-g, adbSNP:184599823
complement(3652)-g, adbSNP:140004011
Gene SymbolACTC1
Gene SynonymACTC; ASD5; CMD1R; CMH11; LVNC4
Chromosome15
Locus Map15q14
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_005159 Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA. In-stock $418.00 $369.00 10
Title Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defect .
Author Greenway SC, McLeod R, Hume S, Roslin NM, Alvarez N, Giuffre M, Zhan SH, Shen Y, Preuss C, Andelfinger G, Jones SJ and Gerull B.
Journal Can J Cardiol 30 (2), 181-187 (2014)
Title Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error .
Author Cheng CY, Schache M, Ikram MK, Young TL, Guggenheim JA, Vitart V, MacGregor S, Verhoeven VJ, Barathi VA, Liao J, Hysi PG, Bailey-Wilson JE, St Pourcain B, Kemp JP, McMahon G, Timpson NJ, Evans DM, Montgomery GW, Mishra A, Wang YX, Wang JJ, Rochtchina E, Polasek O, Wright AF, Amin N, van Leeuwen EM, Wilson JF, Pennell CE, van Duijn CM, de Jong PT, Vingerling JR, Zhou X, Chen P, Li R, Tay WT, Zheng Y, Chew M, Burdon KP, Craig JE, Iyengar SK, Igo RP Jr, Lass JH Jr, Chew EY, Haller T, Mihailov E, Metspalu A, Wedenoja J, Simpson CL, Wojciechowski R, Hohn R, Mirshahi A, Zeller T, Pfeiffer N, Lackner KJ, Bettecken T, Meitinger T, Oexle K, Pirastu M, Portas L, Nag A, Williams KM, Yonova-Doing E, Klein R, Klein BE, Hosseini SM, Paterson AD, Makela KM, Lehtimaki T, Kahonen M, Raitakari O, Yoshimura N, Matsuda F, Chen LJ, Pang CP, Yip SP, Yap MK, Meguro A, Mizuki N, Inoko H, Foster PJ, Zhao JH, Vithana E, Tai ES, Fan Q, Xu L, Campbell H, Fleck B, Rudan I, Aung T, Hofman A, Uitterlinden AG, Bencic G, Khor CC, Forward H, Parssinen O, Mitchell P, Rivadeneira F, Hewitt AW, Williams C, Oostra BA, Teo YY, Hammond CJ, Stambolian D, Mackey DA, Klaver CC, Wong TY, Saw SM and Baird PN.
Journal Am. J. Hum. Genet. 93 (2), 264-277 (2013)
Title Functional characterization of the human alpha-cardiac actin mutations Y166C and M305L involved in hypertrophic cardiomyopathy .
Author Muller M, Mazur AJ, Behrmann E, Diensthuber RP, Radke MB, Qu Z, Littwitz C, Raunser S, Schoenenberger CA, Manstein DJ and Mannherz HG.
Journal Cell. Mol. Life Sci. 69 (20), 3457-3479 (2012)
Title Clathrin potentiates vaccinia-induced actin polymerization to facilitate viral spread .
Author Humphries AC, Dodding MP, Barry DJ, Collinson LM, Durkin CH and Way M.
Journal Cell Host Microbe 12 (3), 346-359 (2012)
Title Hypertrophic Cardiomyopathy Overview .
Author Cirino,A.L. and Ho,C.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Dilated Cardiomyopathy Overview .
Author Hershberger,R.E. and Morales,A.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Regional localization of the gene for cardiac muscle actin (ACTC) on chromosome 15q .
Author Kramer PL, Luty JA and Litt M.
Journal Genomics 13 (3), 904-905 (1992)
Title Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin .
Author Dawson SJ and White LA.
Journal J. Infect. 24 (3), 317-320 (1992)
Title Dinucleotide repeat polymorphism in the human alpha-cardiac actin gene, intron IV (ACTC), detected using the polymerase chain reaction .
Author Watkins C, Bodfish P, Warne D, Nyberg K and Spurr NK.
Journal Nucleic Acids Res. 19 (24), 6980 (1991)
Title Human heart and platelet actins are products of different genes .
Author Elzinga,M., Maron,B.J. and Adelstein,R.S.
Journal Science 191 (4222), 94-95 (1976)

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