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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

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RefSeq Version NM_005159.4, 113722123
Length 3693 bp
Structure linear
Update Date 17-APR-2013
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)
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(187)-dbSNP:
complement(187)-t, g, adbSNP:113178069
complement(194)-t, cdbSNP:139691739
complement(310)-t, cdbSNP:193922681
complement(318)-t, gdbSNP:144819872
complement(385)-dbSNP:
complement(385)-c, adbSNP:76508081
complement(408)-g, adbSNP:149432225
complement(511)-t, cdbSNP:121912676
complement(513)-g, adbSNP:138812333
complement(543)-g, adbSNP:141322728
544+a, gdbSNP:193922680
complement(616)-g, adbSNP:121912677
complement(648)-g, adbSNP:181479041
739+dbSNP:
739+c, gdbSNP:267606628
complement(756)-g, adbSNP:145023222
complement(765)-g, cdbSNP:149768491
complement(779)-c, adbSNP:201921957
complement(866)-dbSNP:
complement(866)-t, cdbSNP:142839840
complement(876)-g, adbSNP:199947846
complement(1019)-g, cdbSNP:199566566
complement(1073)-dbSNP:
complement(1073)-t, cdbSNP:113513162
complement(1132)-t, gdbSNP:121912675
complement(1146)-t, cdbSNP:138347995
complement(1170)-t, cdbSNP:2307493
complement(1184)-g, adbSNP:121912673
1240+dbSNP:
1240+c, gdbSNP:267606629
complement(1275)-g, cdbSNP:113835687
complement(1296)-g, cdbSNP:151321743
complement(1331)-g, adbSNP:121912674
complement(1335)-g, adbSNP:140261885
complement(1393)-g, adbSNP:201258118
complement(1397)-t, adbSNP:143407466
complement(1399)-t, cdbSNP:28730667
complement(1416)-t, cdbSNP:3729758
complement(1514)-t, adbSNP:149031785
complement(1646)-g, adbSNP:74009720
complement(1765)-g, adbSNP:1370154
complement(1849)-t, cdbSNP:1370155
complement(1895)-t, cdbSNP:115295911
complement(1922)-t, cdbSNP:147572632
complement(2065)-c, adbSNP:116184851
complement(2134)-t, cdbSNP:78727649
complement(2158)-t, cdbSNP:145085048
complement(2223)-t, cdbSNP:78596978
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 Functional characterization of the human alpha-cardiac actin mutations Y166C and M305L involved in hypertrophic cardiomyopathy .
Author Muller,M., Mazur,A.J., Behrmann,E., Diensthuber,R.P., Radke,M.B., Qu,Z., Littwitz,C., Raunser,S., Schoenenberger,C.A., Manstein,D.J. and Mannherz,H.G.
Journal Cell. Mol. Life Sci. 69 (20), 3457-3479 (2012)
Title Clathrin potentiates vaccinia-induced actin polymerization to facilitate viral spread .
Author Humphries,A.C., Dodding,M.P., Barry,D.J., Collinson,L.M., Durkin,C.H. and Way,M.
Journal Cell Host Microbe 12 (3), 346-359 (2012)
Title A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants .
Author Tao,S., Wang,Z., Feng,J., Hsu,F.C., Jin,G., Kim,S.T., Zhang,Z., Gronberg,H., Zheng,L.S., Isaacs,W.B., Xu,J. and Sun,J.
Journal Carcinogenesis 33 (3), 598-603 (2012)
Title High-mobility group protein N2 (HMGN2) inhibited the internalization of Klebsiella pneumoniae into cultured bladder epithelial cells .
Author Wu,G., Cao,Y., Fan,B., Zheng,F., Gao,X., Liu,N., Liu,X. and Huang,N.
Journal Acta Biochim. Biophys. Sin. (Shanghai) 43 (9), 680-687 (2011)
Title Molecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse .
Author Song,W., Dyer,E., Stuckey,D.J., Copeland,O., Leung,M.C., Bayliss,C., Messer,A., Wilkinson,R., Tremoleda,J.L., Schneider,M.D., Harding,S.E., Redwood,C.S., Clarke,K., Nowak,K., Monserrat,L., Wells,D. and Marston,S.B.
Journal J. Biol. Chem. 286 (31), 27582-27593 (2011)
Title Regional localization of the gene for cardiac muscle actin (ACTC) on chromosome 15q .
Author Kramer,P.L., Luty,J.A. and Litt,M.
Journal Genomics 13 (3), 904-905 (1992)
Title Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin .
Author Dawson,S.J. and White,L.A.
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,N.K.
Journal Nucleic Acids Res. 19 (24), 6980 (1991)
Title Actin and myosin multigene families: their expression during the formation and maturation of striated muscle .
Author Buckingham,M., Alonso,S., Barton,P., Cohen,A., Daubas,P., Garner,I., Robert,B. and Weydert,A.
Journal Am. J. Med. Genet. 25 (4), 623-634 (1986)
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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