LOCUS       NG_006672               9852 bp    DNA     linear   PRI 16-AUG-2009
DEFINITION  Homo sapiens actin, alpha 1, skeletal muscle (ACTA1) on chromosome
            1.
ACCESSION   NG_006672
VERSION     NG_006672.1  GI:156151447
KEYWORDS    RefSeqGene.
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 9852)
  AUTHORS   Taylor,A., Erba,H.P., Muscat,G.E. and Kedes,L.
  TITLE     Nucleotide sequence and expression of the human skeletal
            alpha-actin gene: evolution of functional regulatory domains
  JOURNAL   Genomics 3 (4), 323-336 (1988)
   PUBMED   2907503
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL160004.18.
            
            Summary: The product encoded by this gene belongs to the actin
            family of proteins, which are highly conserved proteins that play a
            role in cell motility, structure and integrity. Alpha, beta and
            gamma actin isoforms have been identified, with alpha actins being
            a major constituent of the contractile apparatus, while beta and
            gamma actins are involved in the regulation of cell motility. This
            actin is an alpha actin that is found in skeletal muscle. Mutations
            in this gene cause nemaline myopathy type 3, congenital myopathy
            with excess of thin myofilaments, congenital myopathy with cores,
            and congenital myopathy with fiber-type disproportion, diseases
            that lead to muscle fiber defects. [provided by RefSeq].
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9852              AL160004.18        50502-60353         c
FEATURES             Location/Qualifiers
     source          1..9852
                     /organism="Homo sapiens"
                     /mol_type="genomic DNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.13"
     gene            5001..7852
                     /gene="ACTA1"
                     /gene_synonym="ACTA; ASMA; CFTD; CFTD1; CFTDM; MPFD; NEM1;
                     NEM2; NEM3"
                     /note="actin, alpha 1, skeletal muscle"
                     /db_xref="GeneID:58"
                     /db_xref="HGNC:129"
                     /db_xref="MIM:102610"
     mRNA            join(5001..5093,5970..6110,6217..6541,6666..6827,
                     6912..7103,7195..7376,7455..7852)
                     /gene="ACTA1"
                     /gene_synonym="ACTA; ASMA; CFTD; CFTD1; CFTDM; MPFD; NEM1;
                     NEM2; NEM3"
                     /product="actin, alpha 1, skeletal muscle"
                     /transcript_id="NM_001100.3"
                     /db_xref="GI:47078293"
                     /db_xref="GeneID:58"
                     /db_xref="HGNC:129"
                     /db_xref="MIM:102610"
     exon            5001..5093
                     /gene="ACTA1"
                     /gene_synonym="ACTA; ASMA; CFTD; CFTD1; CFTDM; MPFD; NEM1;
                     NEM2; NEM3"
                     /inference="alignment:Splign"
                     /number=1
     exon            5970..6110
                     /gene="ACTA1"
                     /gene_synonym="ACTA; ASMA; CFTD; CFTD1; CFTDM; MPFD; NEM1;
                     NEM2; NEM3"
                     /inference="alignment:Splign"
                     /number=2
     CDS             join(5982..6110,6217..6541,6666..6827,6912..7103,
                     7195..7376,7455..7598)
                     /gene="ACTA1"
                     /gene_synonym="ACTA; ASMA; CFTD; CFTD1; CFTDM; MPFD; NEM1;
                     NEM2; NEM3"
                     /codon_start=1
                     /protein_id="NP_001091.1"
                     /db_xref="GI:4501881"
                     /db_xref="CCDS:CCDS1578.1"
                     /db_xref="GeneID:58"
                     /db_xref="HGNC:129"
                     /db_xref="MIM:102610"
     exon            6217..6541
                     /gene="ACTA1"
                     /gene_synonym="ACTA; ASMA; CFTD; CFTD1; CFTDM; MPFD; NEM1;
                     NEM2; NEM3"
                     /inference="alignment:Splign"
                     /number=3
     exon            6666..6827
                     /gene="ACTA1"
                     /gene_synonym="ACTA; ASMA; CFTD; CFTD1; CFTDM; MPFD; NEM1;
                     NEM2; NEM3"
                     /inference="alignment:Splign"
                     /number=4
     exon            6912..7103
                     /gene="ACTA1"
                     /gene_synonym="ACTA; ASMA; CFTD; CFTD1; CFTDM; MPFD; NEM1;
                     NEM2; NEM3"
                     /inference="alignment:Splign"
                     /number=5
     exon            7195..7376
                     /gene="ACTA1"
                     /gene_synonym="ACTA; ASMA; CFTD; CFTD1; CFTDM; MPFD; NEM1;
                     NEM2; NEM3"
                     /inference="alignment:Splign"
                     /number=6
     exon            7455..7852
                     /gene="ACTA1"
                     /gene_synonym="ACTA; ASMA; CFTD; CFTD1; CFTDM; MPFD; NEM1;
                     NEM2; NEM3"
                     /inference="alignment:Splign"
                     /number=7
     STS             7475..7981
                     /standard_name="ACTA1_3134.2"
                     /db_xref="UniSTS:466097"
     STS             7708..7810
                     /gene="ACTA1"
                     /gene_synonym="ACTA; ASMA; CFTD; CFTD1; CFTDM; MPFD; NEM1;
                     NEM2; NEM3"
                     /standard_name="RH36158"
                     /db_xref="UniSTS:78325"
ORIGIN      
        1 ttcttgacct tttttttttt atcacccctc ctgaggagcc tttttagaca gtttttccta
       61 atcacctccc actccaaaga aagtgtaata ccacagacct actatatatc attcattcat
      121 tcattcattc attcattcat tcatttggaa atggagtctt gctctgtcac ccaggctgga
      181 gtgcagtggc gcgatcttgg ctcgctgcaa cctctgcctc ctgggttcaa gcaattctcc
      241 tgcctcagcc tcccgagtag ctgggattac aggcacccgc catcatgcct ggctaatttt
      301 tgtattttta atagagacag ggtttcacca tgttggccag gctggtctag aactcctgac
      361 ctcaggtgat ctgcctgcct cggcctccca aagtgctggg attataggcg tgagccacca
      421 cacttggccg actatctttt aaatgtactg tggcctttgg aagccataaa ccattgtact
      481 atctgaattt ttttcactct ctaagaacca agttttcccc ctttgagaat gcccatctta
      541 attattattt agaatacaat gttttaaatg cgtgatactt taccatatgg cagaaccata
      601 attaatgtaa cagcccttat tctcttgctg tagctctctc tcaaaagaca catttttttg
      661 accattttaa ataatgctag aataaatctt tgtacaaaaa tctttatgcc ctccaaatac
      721 ggtgaacatg acattgactc tccttgctca gttgcagtga cattgatgtg tgtatactga
      781 gcaggccaat gactttaatg ttcttttctc accttttctg ccactgcact gtgtgcacct
      841 gccccaagcc cttagtcatt ggaagcaaga catggcacca tgtgctgaat gtttcatatg
      901 tcttaggtac tcacctagtt tgttgttttg tttttggttt tggttttggt tttttgagac
      961 ggagtcttgc tctgttccta ggctggagtg cagtagcgca atctcagctc actgcagcct
     1021 gtctcttggg ttcaagagat tctcctgcct cagcctccct agtagctggg attacaggca
     1081 cccgccacca tgcccagcta atttttttgt atttttagta gagaccaggt ttcaccatgt
     1141 tggccaggct ggtgttgaac tcctgacctc aagtgatctg tccacctggg cctcccaaag
     1201 tgctgggatt acagacgtga gccaccgcac tcagctctca cctggtttta atcctcagat
     1261 cagtcttaag gagtattgtg agttgagaat gctttctgga aagtcacttg tccaagatca
     1321 catagccagt cagaggggaa ggtaaatgca gctctgcttg attccagaat gcaagctcct
     1381 aaccagttca tgatattctg ggtataaaga atgttgaaga gagggcactg ctccaatgaa
     1441 tcatcaggtt cttagaggtg gccatgagtg caaaaaccac cagcttcagg aggaggaaaa
     1501 agtagaaaat ccaagcccaa gccctttctt tgggctgcca ggagttgact caactttttt
     1561 tttttttttt tttttgagat ggagtctctc tctgttgccc aggcctggcg tgcagtggtg
     1621 ggatctcggc tcactgcaac ctctgcctcc caggttcaag tgattctcct gtctcagcct
     1681 cccgagtagc tgggattata ggtgtgcacc accacgcctg gctaattttt gtgtttttag
     1741 tagagacggg gtttcaccat gttggccagg ctggtcttga actcctgacc tcaagtgatc
     1801 caccagcctc ggcttcccaa agtgctggga ttacaggcat gggccaccgc gcctggccga
     1861 cccgacgttt ttaagtagct tgtgagaatg agttggtctt tgtctaccct gttcctggaa
     1921 tatctctaac ttggagtgcc cagccagccc ctcaaagctg agtttctggg gaagctacgg
     1981 cttttcatgt caggatgtct ttggctcatt actgggaaag atccctcaag ggcctgttct
     2041 gtttcgaact gtacccagtg ttggtgagga ttagagagaa gcagcagtcc ttgccctccc
     2101 tggccactgg cagtagaagg aaggacagcc caagcccgtc tcctccactg gctgctgtgg
     2161 aacctggggt gtgttttagc tcattaagcc tcagttttct ttaaaaaaga aaaaaaactg
     2221 gaatgagtaa tacctatctt atttacctta ggatagttaa acggttaatt gaaacacgaa
     2281 agcatattat aaagtgtttt accaattcct gtttaaattg ataggaaaca cagtaggaag
     2341 actggaactg agcaagattg gggtacgggt gtgtggagtg ttgaggggca caattggaga
     2401 gaagggaagt gtgaacacac cggggtagtg gtagcagaag ggcccggtca gggtatgaag
     2461 agctgaggct gcacctgaaa acttagaagc aggaactccc tgtcaagcat accctacatg
     2521 gctgaccttt acttagtgac agttctcaaa aggcggagca gggcgccgct gcgctccccc
     2581 aaaacataca tgtatggaga cgtggctctg ccacccacca ttcagtctat tctctaagcc
     2641 aatgagaatg caacaagacc agaatgggac tgagggtggc ctgtggtgac ctgtcaggga
     2701 ctatttaaac cagccgcaaa tcatgtgggc agggaacaga tgcctggctg gccacctcag
     2761 gggccatctc ccacagtttg ctgtactagc aggtctctgt tcgcttgtga gtgtttttaa
     2821 tcatggtcag cttttagtgt gggtttgaat gtaacagact gagcttagaa aagctttctg
     2881 taaggaaagg taagagttga actgagcaag agttttgaaa aatagtgaca atcccattct
     2941 cctttggaat gcgcacaaat attgaggtat ccagtgaacg gcagcaaatt tcctaccttc
     3001 aaggcccaaa tgtaagctag tccccttacg ttacatgcag ctcatttgct aagtggtttt
     3061 tttctagtat ctccactact cgctgacaca ggaggacaca ggatgttaaa aaggaaatac
     3121 agttctgtca attattcact tactctccaa aatacttgga agaactaaat atggaaccat
     3181 aggagacttt atcctcaccg catagtccct atactagtca aactccttat tttttaattg
     3241 atcattttta ggaaggtagc attttattca ctagaacatt tttgttaata cttgtttatt
     3301 tttgggatga actgccatga tgtgggctac agaggagggt cgcatatgct tccatccccc
     3361 ttttagagaa tccacacctg tcccagttgc tgggttccac taccaaaagt gaattgcaac
     3421 tattttagga gcacttaagc acatccgaaa aatgagtgat tctgttctgg cccacaccac
     3481 atcactgatg taccccctta aagcatgtcc ctgagttcat cacagaagac tgctcctcct
     3541 gtgccctcca caaggttaga actgtccttg tcttagggaa aaaggagaga gagagagaga
     3601 gagagagaga gagagagaga gagagagaga gagagggaca ggcaccaact gggtaacctc
     3661 tgctgacccc cactctactt taccataagt agctccaaat ccttctagaa aatctgaaag
     3721 gcatagcccc atatatcagt gatataaata gaacctgcag caggctctgg taaatgatga
     3781 ctacaaggtg gactgggagg cagcccggcc ttggcaggca tcatcctcta aatataaaga
     3841 tgagtttgtt cagcctttgc agaaggaaaa actgccaccc atcctagagt gccgcgtcct
     3901 tgtcccccca ccccctccaa tttattggga ggaaggacca gctaagcctc atctaggaag
     3961 agcccctcac ccatctccac ctccactcca ggtctagcca gtcctgggtt gtgacccttg
     4021 tctttcagcc ccaggagagg gacacacata gtgccaccaa agaggctggg ggagggcctc
     4081 agcccaccaa aacctggggc cagtgcgtcc tacaggaggg gaaccctcac cccttcaatc
     4141 cctttaggag acccaagggc gctgcgcgtc cctgaggcgg acagctccgt gtgctcaggc
     4201 tttgcgcctg acaggcctat ccccgggagc ccccgcgcct cctccccggc gctccgccct
     4261 cgcctccccc cgccagttgt ctatcctgcg acagctgcgc gccctccggc cgccggtggc
     4321 cctctgtgcg gtgggggaag gggtcgacgt ggctcagctt tttggattca gggagctcgg
     4381 gggtgggaag agagaaatgg agttccaggg gcgtaaagga gagggagttc gccttccttc
     4441 ccttcctgag actcaggagt gactgcttct ccaatcctcc caagcccacc actccacacg
     4501 actccctctt cccggtagtc gcaagtggga gtttggggat ctgagcaaag aacccgaaga
     4561 ggagttgaaa tattggaagt cagcagtcag gcaccttccc gagcgcccag ggcgctcaga
     4621 gtggacatgg ttggggaggc ctttgggaca ggtgcggttc ccggagcgca ggcgcacaca
     4681 tgcacccacc ggcgaacgcg gtgaccctcg ccccacccca tcccctccgg cgggcaactg
     4741 ggtcgggtca ggaggggcaa acccgctagg gagacactcc atatacggcc cggcccgcgt
     4801 tacctgggac cgggccaacc cgctccttct ttggtcaacg caggggaccc gggcgggggc
     4861 ccaggccgcg aaccggccga gggagggggc tctagtgccc aacacccaaa tatggctcga
     4921 gaagggcagc gacattcctg cggggtggcg cggagggaat gcccgcgggc tatataaaac
     4981 ctgagcagag ggacaagcgg ccaccgcagc ggacagcgcc aagtgaagcc tcgcttcccc
     5041 tccgcggcga ccagggcccg agccgagagt agcagttgta gctacccgcc caggtagggc
     5101 aggagttggg aggggacagg gggacagggc actaccgagg ggaacctgaa ggactccggg
     5161 gcagaaccca gtcggttcac ctggtcagcc ccaggcctgc gccctgagcg ctgtgcctcg
     5221 tctccggagc cacacgcgct ttaaaaagga ggcaagacag tcagcctctg gaaattagac
     5281 ttctccaaat ttttctctag cccctttggg ctcctttacc tggcatgtag gatgtgccta
     5341 gggagataaa cggttttgct ttagttgtcg ccaaggcagt tcccttccaa actagcgcta
     5401 gagcgaatga gcgagcagcc aggaccaccc attctgggtt tccaacaggc gaaaaggccc
     5461 tttctgagtt tgaaatgtca cagggttcct aacaggccac tcttccctgg atggggtgcc
     5521 aacgcctttc ccatgggcat ctccttccac cctcacgctg gcccagcaag caggcagtgc
     5581 tgaggcctta tctccctagg tgacagatgt ggtcagggag gcgcagagag gatgggcact
     5641 agcgtccagc tcctggaaca ggtgtcaggc agggagggca gacaggtctt ggggaacatg
     5701 ttcccctggc tatgtggaca gaggacttct cagtggggtc tcgcgaccct gtgccccttt
     5761 tcctggttca gggcagccct tagccggggc aaaggtcgag aagagaaccc ctggtcgccg
     5821 ccctggcaga atttgagtgg ctccggcagg agatgtccct aggttcctgg ggagggagga
     5881 cgtcggggcc agccaggctt acccccccct gccgctgaga cttctgcgct gatgcaccgc
     5941 gcctcttcgc ggtctccctg tccttgcaga aactagacac aatgtgcgac gaagacgaga
     6001 ccaccgccct cgtgtgcgac aatggctccg gcctggtgaa agccggcttc gccggggatg
     6061 acgcccctag ggccgtgttc ccgtccatcg tgggccgccc ccgacaccag gtcaggctgc
     6121 ccctccgcag agggagccgg ctcggggtcc ccgcgtaagc cagcctggtg ccacccggag
     6181 cggcgttaac gggtgcgtgg tgtctcggct ctgcagggcg tcatggtcgg tatgggtcag
     6241 aaagattcct acgtgggcga cgaggctcag agcaagagag gtatcctgac cctgaagtac
     6301 cctatcgagc acggcatcat caccaactgg gatgacatgg agaagatctg gcaccacacc
     6361 ttctacaacg agcttcgcgt ggctcccgag gagcacccca ccctgctcac cgaggccccc
     6421 ctcaatccca aggccaaccg cgagaagatg acccagatca tgtttgagac cttcaacgtg
     6481 cccgccatgt acgtggccat ccaggccgtg ctgtccctct acgcctccgg caggaccacc
     6541 ggtgagtgcc cgctgccccc agtcccctct cccgcccccg cccccgcccc cgcccccgcc
     6601 gctagcgctg agagcctagc ctcggcctcg cccccagcca ctcactctct cccgcgcgcg
     6661 cacaggcatc gtgctggact ccggcgacgg cgtcacccac aacgtgccca tttatgaggg
     6721 ctacgcgctg ccgcacgcca tcatgcgcct ggacctggcg ggccgcgatc tcaccgacta
     6781 cctgatgaag atcctcactg agcgtggcta ctccttcgtg accacaggtg cgcggcgccc
     6841 ctgcaccccg ggcgggaggg ccggcggcgg cccctgagtg agggctcctc tcctgcttct
     6901 gccctccgca gctgagcgcg agatcgtgcg cgacatcaag gagaagctgt gctacgtggc
     6961 cctggacttc gagaacgaga tggcgacggc cgcctcctcc tcctccctgg aaaagagcta
     7021 cgagctgcca gacgggcagg tcatcaccat cggcaacgag cgcttccgct gcccggagac
     7081 gctcttccag ccctccttca tcggtgagcc ccgctcgccc tcgccccggc ccccaggccc
     7141 cgccggcccc cggcgccccg agcttctgct cacgctcccc gccgcggtcc ccaggtatgg
     7201 agtcggcggg cattcacgag accacctaca acagcatcat gaagtgtgac atcgacatca
     7261 ggaaggacct gtatgccaac aacgtcatgt cggggggcac cacgatgtac cctgggatcg
     7321 ctgaccgcat gcagaaagag atcaccgcgc tggcacccag caccatgaag atcaaggtgg
     7381 gtggtggcct gcgcgggctg tcggcggggt gggctccagg gtgaggtctc cccacctcac
     7441 gcgctgtctt gcagatcatc gccccgccgg agcgcaaata ctcggtgtgg atcggcggct
     7501 ccatcctggc ctcgctgtcc accttccagc agatgtggat caccaagcag gagtacgacg
     7561 aggccggccc ttccatcgtc caccgcaaat gcttctagac acactccacc tccagcacgc
     7621 gacttctcag gacgacgaat cttctcaatg ggggggcggc tgagctccag ccaccccgca
     7681 gtcactttct ttgtaacaac ttccgttgct gccatcgtaa actgacacag tgtttataac
     7741 gtgtacatac attaacttat tacctcattt tgttattttt cgaaacaaag ccctgtggaa
     7801 gaaaatggaa aacttgaaga agcattaaag tcattctgtt aagctgcgta aagtggtcgt
     7861 gtttatttgc ttggggcggg agtggagcag gaagagggat tcccatcccc cacatcctct
     7921 taagtcactt ttcacgatac cccaaatgaa tgggctcctt ggaagacaaa acttacatct
     7981 tcccatgctc ccctgccggt ttctgcagtg gatcagatcc attccagatc actggcagct
     8041 agtggtggcc tgacttgacc ctctggggtg tggcgaggca gctttcttcc tctgcgcagc
     8101 gctcccgagt gttgccagca ctgccggggc ggcctccgct ggtggccctg ggtcccctca
     8161 ggcagcgggc gctgaccatg gtgctggggc tggagagctg tttctcagag ggcgtctcag
     8221 ctccgcctat ggtgttcccc tactgaatct ccagatctga gagggggttg tgttctgcat
     8281 gtaacaagtc attttgtttt tgtttttgtt tttgtttttt aatagagaca gggtctcgcc
     8341 ctgtcgccca cggtggagag cagtggtgtg atcagagccc aactgtatcc tctaattgag
     8401 ctcaaggggt cctcccacct cagcctcccc agttgctaat attttcgcat gtgccaccgc
     8461 gtccagccag ttttttattt ttattgtaga gacagggtct cagggtcttg ttatgctgcc
     8521 caggctggtc tcgaactcct ggccacaagc aatgcttctg cctcagcccc tcaaagttct
     8581 gggattacag gtctgtgcca ctatgtccag gcttaataaa tgagttttaa tttgcaagtg
     8641 aagaccgtca ctgcctctct ccaatgggga agtcctttgc ttcacaccag gtgctgctgg
     8701 tagaaagaaa caccccctcg tgcaggacct gggaaggagg caagggaggg ccaagtgaga
     8761 gctccagaaa gaagggcagc aaagaagcgt cggaggggtg ggaagctgag gctcacgctg
     8821 gaagacgggg aggtaagcaa ggggaggagg aacaccctca cccccaaaac aagttttaaa
     8881 ggcatcaaat ttatcaacag tttgaacttc tgtgggagag tgcaatacct attccttaaa
     8941 gggagcttaa tgtttcctag tcaagtttct caagagcagt ggcccctaaa tataatggat
     9001 tcagactcaa agtaataaac tcgtttgtaa ataagtttat agctgcaatt gacaaaatag
     9061 ctatgttaca tgccacgtag tcatatgttt aatccctcat cttctggctt attgaaaaac
     9121 ttcagaaatc tttgaggcct caaaaggcat ggtactgtca aatccagata tcaagagagt
     9181 tgacaatatt gctaaaattt aagattttaa taaaagaagt atataatacc atgttcattg
     9241 aaaaccttgt attgtcccac tcagggtgga tgaaggttaa aaatgggcta aatactagtc
     9301 tttcagaggt atacagcttt tgttgataat actaaccaca tatatacata tctgatataa
     9361 taatactcta acatattggt aatattgaat atgcaaaggc atatctgagc aaacataacc
     9421 tacacacaca tagcttaaat aattcattcg tggccagatg cagtggctca cacctgtaat
     9481 ctcagcactt tgggaggccg aggtgggcgg atcacttgag gccaggagtt cgagaccagc
     9541 ctgtccagcg tggtgaaacc ctgcctctac taaaaataca aaaattagct agtcatggtg
     9601 gtgtgcacct gtagtcccag ctactcggaa cgcggaagtg ggagaatcac ttgagcccca
     9661 agaggcagag cttgcagtga gccaagatta tgccactgca atccagcctg ggtgcagtga
     9721 gaccctgttt caaaaataaa taaataaatt cattcatgta gccagcagcc tggtaaaata
     9781 tcactattac atgtgttagc tgactgtcat gctaacgatt tttgaaccag aaccctaaat
     9841 caattgggat tt
//

