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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:

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

by @meso_cacase at DBCLS
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