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 //