2024-03-29 19:12:33, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_005159 3693 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA. ACCESSION NM_005159 VERSION NM_005159.4 GI:113722123 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 3693) AUTHORS 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. TITLE Functional characterization of the human alpha-cardiac actin mutations Y166C and M305L involved in hypertrophic cardiomyopathy JOURNAL Cell. Mol. Life Sci. 69 (20), 3457-3479 (2012) PUBMED 22643837 REMARK GeneRIF: ACTC1 mutations Y166C and M305L are associated with hypertrophic cardiomyopathy REFERENCE 2 (bases 1 to 3693) AUTHORS Humphries,A.C., Dodding,M.P., Barry,D.J., Collinson,L.M., Durkin,C.H. and Way,M. TITLE Clathrin potentiates vaccinia-induced actin polymerization to facilitate viral spread JOURNAL Cell Host Microbe 12 (3), 346-359 (2012) PUBMED 22980331 REMARK GeneRIF: The authors demonstrate that clathrin promotes clustering of the vaccinia virus actin tail nucleator A36 and host N-WASP, which activates actin nucleation through the Arp2/3 complex. REFERENCE 3 (bases 1 to 3693) AUTHORS 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. TITLE A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants JOURNAL Carcinogenesis 33 (3), 598-603 (2012) PUBMED 22219177 REFERENCE 4 (bases 1 to 3693) AUTHORS Wu,G., Cao,Y., Fan,B., Zheng,F., Gao,X., Liu,N., Liu,X. and Huang,N. TITLE High-mobility group protein N2 (HMGN2) inhibited the internalization of Klebsiella pneumoniae into cultured bladder epithelial cells JOURNAL Acta Biochim. Biophys. Sin. (Shanghai) 43 (9), 680-687 (2011) PUBMED 21778192 REMARK GeneRIF: Data show that HMGN2 inhibited the attachment of bacteria, and then decreased bacteria-induced ERK1/2 activation and actin polymerization, which might contribute to bacterial internalization into T24 cells. REFERENCE 5 (bases 1 to 3693) AUTHORS 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. TITLE Molecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse JOURNAL J. Biol. Chem. 286 (31), 27582-27593 (2011) PUBMED 21622575 REMARK GeneRIF: propose that the ACTC E99K mutation causes higher myofibrillar Ca(2+) sensitivity that is responsible for the sudden cardiac death, apical hypertrophy, and subsequent development of heart failure in humans and mice. REFERENCE 6 (bases 1 to 3693) AUTHORS Kramer,P.L., Luty,J.A. and Litt,M. TITLE Regional localization of the gene for cardiac muscle actin (ACTC) on chromosome 15q JOURNAL Genomics 13 (3), 904-905 (1992) PUBMED 1639426 REFERENCE 7 (bases 1 to 3693) AUTHORS Dawson,S.J. and White,L.A. TITLE Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin JOURNAL J. Infect. 24 (3), 317-320 (1992) PUBMED 1602151 REFERENCE 8 (bases 1 to 3693) AUTHORS Watkins,C., Bodfish,P., Warne,D., Nyberg,K. and Spurr,N.K. TITLE Dinucleotide repeat polymorphism in the human alpha-cardiac actin gene, intron IV (ACTC), detected using the polymerase chain reaction JOURNAL Nucleic Acids Res. 19 (24), 6980 (1991) PUBMED 1762945 REFERENCE 9 (bases 1 to 3693) AUTHORS Buckingham,M., Alonso,S., Barton,P., Cohen,A., Daubas,P., Garner,I., Robert,B. and Weydert,A. TITLE Actin and myosin multigene families: their expression during the formation and maturation of striated muscle JOURNAL Am. J. Med. Genet. 25 (4), 623-634 (1986) PUBMED 3789022 REFERENCE 10 (bases 1 to 3693) AUTHORS Elzinga,M., Maron,B.J. and Adelstein,R.S. TITLE Human heart and platelet actins are products of different genes JOURNAL Science 191 (4222), 94-95 (1976) PUBMED 1246600 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DB504220.1, BC009978.2, AK056592.1, CR737466.1 and AI222203.1. This sequence is a reference standard in the RefSeqGene project. On Aug 31, 2006 this sequence version replaced gi:46411161. 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC009978.2, AK129902.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025088 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-38 DB504220.1 1-38 39-1559 BC009978.2 1-1521 1560-1764 AK056592.1 1100-1304 1765-2070 CR737466.1 18-323 2071-2714 AK056592.1 1611-2254 2715-2717 AI222203.1 407-409 c 2718-3693 AK056592.1 2258-3233 FEATURES Location/Qualifiers source 1..3693 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="15" /map="15q14" gene 1..3693 /gene="ACTC1" /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4" /note="actin, alpha, cardiac muscle 1" /db_xref="GeneID:70" /db_xref="HGNC:143" /db_xref="HPRD:00015" /db_xref="MIM:102540" exon 1..221 /gene="ACTC1" /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4" /inference="alignment:Splign:1.39.8" exon 222..372 /gene="ACTC1" /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4" /inference="alignment:Splign:1.39.8" misc_feature 229..231 /gene="ACTC1" /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4" /note="upstream in-frame stop codon" CDS 244..1377 /gene="ACTC1" /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4" /codon_start=1 /product="actin, alpha cardiac muscle 1 proprotein" /protein_id="NP_005150.1" /db_xref="GI:4885049" /db_xref="CCDS:CCDS10041.1" /db_xref="GeneID:70" /db_xref="HGNC:143" /db_xref="HPRD:00015" /db_xref="MIM:102540" /translation="
MCDDEETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITNWDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRKCF
" mat_peptide 250..1374 /gene="ACTC1" /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4" /product="actin, alpha cardiac muscle 1" misc_feature 256..1374 /gene="ACTC1" /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4" /note="Actin; Region: Actin; pfam00022" /db_xref="CDD:200935" misc_feature 271..792 /gene="ACTC1" /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4" /note="Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily; Region: NBD_sugar-kinase_HSP70_actin; cd00012" /db_xref="CDD:212657" misc_feature order(280..291,295..297,301..303,658..660,709..720) /gene="ACTC1" /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4" /note="nucleotide binding site [chemical binding]; other site" /db_xref="CDD:212657" exon 373..697 /gene="ACTC1" /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4" /inference="alignment:Splign:1.39.8" STS 437..973 /gene="ACTC1" /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4" /standard_name="PMC133998P8" /db_xref="UniSTS:270713" STS 478..831 /gene="ACTC1" /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4" /standard_name="PMC23952P1" /db_xref="UniSTS:272216" STS 504..633 /gene="ACTC1" /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4" /standard_name="LOC345651" /db_xref="UniSTS:265879" exon 698..859 /gene="ACTC1" /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4" /inference="alignment:Splign:1.39.8" exon 860..1051 /gene="ACTC1" /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4" /inference="alignment:Splign:1.39.8" STS 907..1181 /gene="ACTC1" /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4" /standard_name="STS_ADH2" /db_xref="UniSTS:470621" exon 1052..1233 /gene="ACTC1" /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4" /inference="alignment:Splign:1.39.8" variation 1170 /gene="ACTC1" /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4" /replace="c" /replace="t" /db_xref="dbSNP:2307493" exon 1234..3693 /gene="ACTC1" /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4" /inference="alignment:Splign:1.39.8" STS 1382..1558 /gene="ACTC1" /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4" /standard_name="SHGC-35611" /db_xref="UniSTS:33932" variation 1399 /gene="ACTC1" /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4" /replace="c" /replace="t" /db_xref="dbSNP:28730667" variation 1416 /gene="ACTC1" /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4" /replace="c" /replace="t" /db_xref="dbSNP:3729758" polyA_signal 1532..1537 /gene="ACTC1" /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4" polyA_site 1559 /gene="ACTC1" /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4" variation 1765 /gene="ACTC1" /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4" /replace="a" /replace="g" /db_xref="dbSNP:1370154" variation 1849 /gene="ACTC1" /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4" /replace="c" /replace="t" /db_xref="dbSNP:1370155" polyA_signal 2888..2893 /gene="ACTC1" /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4" polyA_signal 3040..3045 /gene="ACTC1" /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4" polyA_signal 3102..3107 /gene="ACTC1" /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4" polyA_signal 3670..3675 /gene="ACTC1" /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4" ORIGIN
tggctgatcctctcccctgcccttggctccatgaatggcctcggcagtcctagcgggtgcgaaggggaccaaataaggcaaggtggcagaccgggccccccacccctgcccccggctgctccaactgaccctgtccatcagcgttctataaagcggccctcctggagccagccacccagagcccgctgccgccggagccgagccgacccgccccgccgacgaaccccctgaagctgtgccaagatgtgtgacgacgaggagaccaccgccctggtgtgcgacaacggctctgggctggtgaaggccggctttgcgggcgatgacgcgccccgcgctgtcttcccgtccatcgtgggccgcccgcggcaccagggagttatggtgggtatgggtcagaaggactcctacgtaggtgatgaagcccagagcaagagaggcatcctgaccctgaagtatcccatcgagcatggtatcatcaccaactgggacgacatggagaagatctggcaccacaccttctacaatgagctccgtgtggctcccgaggagcaccccaccctgctcacagaggccccgctgaaccccaaggccaaccgggagaagatgactcagatcatgtttgagaccttcaatgtccctgccatgtacgtggccatccaggcagtgctatccctgtatgcttctggccgtaccacaggcattgttctggactctggggatggtgtaactcacaatgtccccatctatgagggctacgctttgccccatgccatcatgcgtctggatctggctggtcgggacctcactgactacctcatgaagatcctcactgagcgtggctactcctttgtcaccactgctgaacgtgaaattgtccgtgacattaaagagaagctgtgctatgtcgccctggattttgagaatgagatggccacagctgcctcttcctcctccctggagaagagctatgaactgcctgatggccaagtcatcactattggcaatgagcgcttccgctgtcctgagacactcttccagccctccttcattggtatggaatctgctggcatccatgaaacaacttacaatagcatcatgaagtgtgacattgatatccgcaaggacctgtatgccaacaatgtcttatctggaggcaccactatgtaccctggtattgctgatcgtatgcagaaggaaatcactgctctggctcctagcaccatgaagattaagattattgctccccctgagcgtaaatactctgtctggattgggggctccatcctggcctctctgtccaccttccagcaaatgtggattagcaagcaagagtacgatgaggcaggcccatccattgtccaccgcaaatgcttctaagatgccttctctctccatctaccttccagtcaggatgacggtattatgcttcttggagtcttccaaaccaccttccctcatctttcatcaatcattgtacagtttgtttacacacgtgcaatttgtttgtgcttctaatatttattgctttataaataaaccagaccaggacttgcaacctataaaagcctctcgtttgtttttggggtaggcgtggggtggggcaggtgtttgctttgacaccctgagcattgtcaaagttcagtaccacaaggttcatccagatgaattaatatgacagttagctgggagttataatgctaacttttgatttcatattttgagacagaatcatgaatatatttcatacctgaaaagcagattaaggtttagttccatataagtaagaaatgaaattgaataagatagttctctagaattagttgctgcagatgacactgaagattattttaacatatgttccagttgtttttgtaaccttgcagaaaatacacatatattgataatgagaaagtcaaagattattttaaatgaattggcttaacttttcaattctttgaactcttcaattttcttcctgggggctatgaaagaaacatgaaggttagctgacagttgggccagccacatcccattgcaaataccctctaaacatatcaagaccattgtgtgtgtgcaaaacaaatgtgaggaagcaggagccaaacacttctgcctgatcagtgactaacttgcgagacagaagccttcaatctcttcgtttctttgaaatcttgagatcttgggttgagtgaactgaaggctgcgaggtcctgagggagcaaggggaggcgagagccacagtgtttgctttgctctgtgcagagctctctgcaaagtatggtgggaaggctgctaggggcagcgttgaaaagaattgaatgtgttccatcctcgaggagttcacacacctacacataatcccccagtgcgtgtggcctggaggctttaaggagatgtatgtgggtctgggtcttagagaatggtcaggaattagggaggtgagaagagcagagaggacatctcagcagaaggaagtgtggcagaagccaggatacaagacatggggcaggctggtaggtgctgatgaattttagaaaatccactgggaaaggtagatttcaactagattgcagaagccttacagatttttgttttcaaattaattgccagtgaactgttagcattcacagaagtgtttgaatagacttaattgaattttattgatgaggattcaagacacagagattaagcaactggtgcaatgttataaactttatttgtggaatgtgctagacaggaactcagattttctgacacctactctgatggtgtctctaaaataatctttctaactttatagtttatcaagggtaaccccattctatcacatgccttttgagaatttgggttcaatatttggagtactctggactcatcagacatctttaataaattgtaatacattgccactgtcattcaaggtcctatgtgtgtctttttgcctattcataccaaaaatatcttttgatccctgactctgggtcgggcatagtattaagggcaggggacacaaagatgtatgagagcacattttctgtgaataaaaagctcagagtttagagttctgtatgtagcatattcaaatggaaggccttctatgcaataaaggctaaataatacatcaacttggtggcattttatttagataaggtgcaaacattattgtacatatgccccccgcccccaccaccccattgtatcctatagcacagttgaactggtttaaaagccatgcatggggaggtatgatttcactagtttttgtgtctctttcttttcctctgtacaattgagtgcataaatattatgaattgtatcctctgaacacagtattaatgctttaactgtagatgattggctggggtatcacctctggttctttccatctgtgattagaaatggagaggacatttttatttctatgtaaaagtagaagctttaagaatcagcttctgatatttatatcagaagaggtaagcacccagattcttgttgaattctgaggtcttctcatctttgcttgattatagggtataaagtattagaacaattgaatcttaaaaattgtgcttaaggaaggtactaagacaaaaatgtttgcttaaggtaatcttcatatgtatacaataactgagacatggatagtgcctacgtctttggttaaagtgcaataaacaaagaactatataaatt
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:70 -> Molecular function: GO:0005524 [ATP binding] evidence: IDA GeneID:70 -> Molecular function: GO:0016887 [ATPase activity] evidence: IDA GeneID:70 -> Molecular function: GO:0017022 [myosin binding] evidence: IDA GeneID:70 -> Molecular function: GO:0017022 [myosin binding] evidence: IPI GeneID:70 -> Biological process: GO:0006200 [ATP catabolic process] evidence: IDA GeneID:70 -> Biological process: GO:0006915 [apoptotic process] evidence: ISS GeneID:70 -> Biological process: GO:0030048 [actin filament-based movement] evidence: IDA GeneID:70 -> Biological process: GO:0030049 [muscle filament sliding] evidence: TAS GeneID:70 -> Biological process: GO:0030240 [skeletal muscle thin filament assembly] evidence: ISS GeneID:70 -> Biological process: GO:0031032 [actomyosin structure organization] evidence: ISS GeneID:70 -> Biological process: GO:0033275 [actin-myosin filament sliding] evidence: IMP GeneID:70 -> Biological process: GO:0042493 [response to drug] evidence: IEA GeneID:70 -> Biological process: GO:0045471 [response to ethanol] evidence: IEA GeneID:70 -> Biological process: GO:0055003 [cardiac myofibril assembly] evidence: ISS GeneID:70 -> Biological process: GO:0055008 [cardiac muscle tissue morphogenesis] evidence: ISS GeneID:70 -> Biological process: GO:0060047 [heart contraction] evidence: IMP GeneID:70 -> Biological process: GO:0060048 [cardiac muscle contraction] evidence: IEA GeneID:70 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA GeneID:70 -> Cellular component: GO:0005829 [cytosol] evidence: TAS GeneID:70 -> Cellular component: GO:0005884 [actin filament] evidence: IDA GeneID:70 -> Cellular component: GO:0030017 [sarcomere] evidence: IDA GeneID:70 -> Cellular component: GO:0031674 [I band] evidence: ISS GeneID:70 -> Cellular component: GO:0042643 [actomyosin, actin part] evidence: IDA GeneID:70 -> Cellular component: GO:0070062 [extracellular vesicular exosome] evidence: IDA
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