LOCUS HUMACTN3A 2858 bp mRNA linear HUM 30-OCT-1994
DEFINITION Homo sapiens alpha actinin 3 (ACTN3) mRNA, complete cds.
ACCESSION M86407
VERSION M86407.1
KEYWORDS ACTN3 gene; skeletal muscle alpha-actinin.
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 2858)
AUTHORS Beggs,A.H., Byers,T.J., Knoll,J.H., Boyce,F.M., Bruns,G.A. and
Kunkel,L.M.
TITLE Cloning and characterization of two human skeletal muscle
alpha-actinin genes located on chromosomes 1 and 11
JOURNAL J. Biol. Chem. 267 (13), 9281-9288 (1992)
PUBMED 1339456
COMMENT Original source text: Homo sapiens (tissue library: lambda-gt10 of
M.Koenig) fetus skeletal muscle cDNA to mRNA.
FEATURES Location/Qualifiers
source 1..2858
/db_xref="H-InvDB:HIT000196626"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/map="Unassigned"
/tissue_type="skeletal muscle"
/dev_stage="fetus"
/tissue_lib="lambda-gt10 of M.Koenig"
gene 1..2858
/gene="ACTN3"
5'UTR 1..18
/gene="ACTN3"
/note="G00-127-920"
CDS 19..2724
/gene="ACTN3"
/function="'skeletal muscle specific'"
/codon_start=1
/product="alpha-actinin"
/protein_id="AAA51585.1"
/db_xref="GDB:G00-127-920"
/translation="MMMVMQPEGLGAGEGRFAGGGGGGEYMEQEEDWDRDLLLDPAWE
KQQRKTFTAWCNSHLRKAGTQIENIEEDFRNGLKLMLLLEVISGERLPRPDKGKMRFH
KIANVNKALDFIASKGVKLVSIGAEEIVDGNLKMTLGMIWTIILRFAIQDISVEETSA
KEGLLLWCQRKTAPYRNVNVQNFHTSWKDGLALCALIHRHRPDLIDYAKLRKDDPIGN
LNTAFEVAEKYLDIPKMLDAEDIVNTPKPDEKAIMTYVSCFYHAFAGAEQAETAANRI
CKVLAVNQENEKLMEEYEKLASELLEWIRRTVPWLENRVGEPSMSAMQRKLEDFRDYR
RLHKPPRIQEKCQLEINFNTLQTKLRLSHRPAFMPSEGKLVSDIANAWRGLEQVEKGY
EDWLLSEIRRLQRLQHLAEKFRQKASLHEAWTRGKEEMLSQRDYDSALLQEVRALLRR
HEAFESDLAAHQDRVEHIAALAQELNELDYHEAASVNSRCQAICDQWDNLGTLTQKRR
DALERMEKLLETIDQLQLEFARRAAPFNNWLDGAVEDLQDVWLVHSVEETQSLLTAHD
QFKATLPEADRERGAIMGIQGEIQKICQTYGLRPCSTNPYITLSPQDINTKWDMVRKL
VPSRDQTLQEELARQQVNERLRRQFAAQANAIGPWIQAKVEEVGRLAAGLAGSLEEQM
AGLRQQEQNIINYKTNIDRLEGDHQLLQESLVFDNKHTVYSMEHIRVGWEQLLTSIAR
TINEVENQVLTRDAKGLSQEQLNEFRASFNHFDRKRNGMMEPDDFRACLISMGYDLGE
VEFARIMTMVDPNAAGVVTFQAFIDFMTRETAETDTTEQVVASFKILAGDKNYITPEE
LRRELPAKQAEYCIRRMVPYKGSGAPAGALDYVAFSSALYGESDL"
3'UTR 2725..2858
/gene="ACTN3"
/note="G00-127-920"
regulatory 2836..2841
/regulatory_class="polyA_signal_sequence"
/gene="ACTN3"
/note="G00-127-920"
polyA_site 2858
/gene="ACTN3"
/note="G00-127-920"
BASE COUNT 667 a 815 c 896 g 480 t
ORIGIN Chromosome 11q13-q14.
1 gccaggagcc cgatcgagat gatgatggtt atgcagcccg agggtctggg ggccggggag
61 gggcgctttg cgggcggcgg cgggggcggc gagtacatgg aacaggagga ggactgggac
121 cgcgacctgc tgctggaccc ggcctgggag aagcagcagc ggaaaacctt cactgcctgg
181 tgcaactcac acctgcgcaa ggcaggcacc cagatcgaga acatcgagga agatttccgc
241 aatggcctca aactcatgct gctcctggag gtcatttcag gtgagaggct gcctaggcca
301 gataaaggca agatgcgctt ccacaaaatc gccaacgtta acaaggccct ggacttcatt
361 gccagcaagg gggttaaact ggtgtccatt ggtgctgaag agattgttga cgggaacctg
421 aagatgaccc tgggcatgat ctggaccatc atccttcgct tcgccatcca ggacatctct
481 gtggaagaaa cctcagccaa ggaaggcttg cttctgtggt gccagaggaa gacagcaccg
541 taccgcaacg tcaacgtgca gaacttccac accagctgga aggatggcct ggccctctgt
601 gccctcatcc accgacaccg ccctgacctc atcgactacg ccaaactgcg aaaggatgac
661 cccatcggaa acctgaacac tgcctttgag gtggcagaga aatacctgga catccccaag
721 atgttggatg cagaagacat tgtgaacacc ccaaagccgg atgagaaggc catcatgacc
781 tatgtgtcct gcttctacca tgcctttgcc ggggctgagc aggcagagac agctgccaac
841 aggatctgca aggtgctggc agtgaaccag gaaaacgaga agctgatgga ggagtatgag
901 aagcttgcca gtgagctgct ggagtggatc cgccgcactg tcccatggct ggagaaccgt
961 gtgggtgagc ccagcatgag tgccatgcag cgcaaactag aggactttcg ggactaccgg
1021 cgtctgcaca agccgccccg cattcaggaa aagtgccagc tggagatcaa cttcaacaca
1081 ctgcagacca agttgcggct cagccaccgg cctgccttca tgccctccga gggcaagctg
1141 gtctcggaca tcgccaacgc ctggcggggg ctggagcagg tggaaaaggg ctatgaggac
1201 tggctgctct cggagatccg gcgcctgcag cgactccagc acctggctga gaagttccgg
1261 cagaaggcct ccctgcacga agcctggacc cggggaaagg aggagatgct gagccagcgc
1321 gactacgatt cggctttgct acaggaggtg cgggcgttgc tgcggcgcca cgaggccttt
1381 gagagcgacc tggcggcgca ccaggaccgc gtggagcaca ttgccgcgct ggcccaggag
1441 ctcaatgagc tggactacca cgaggcagcc tcagtgaata gccgctgcca ggccatctgc
1501 gatcagtggg acaacctggg caccctgacc cagaagaggc gggatgcgct agagcggatg
1561 gagaagctcc tggagaccat tgaccagctg caactggagt ttgcccggcg ggccgcgccc
1621 ttcaacaact ggctggatgg tgccgtggag gacctgcagg acgtgtggct ggtacactct
1681 gtggaggaga cccagagcct gctgacagcg cacgatcagt tcaaggcaac actgcccgag
1741 gctgaccgag agcgaggtgc catcatgggc atccagggtg agatccagaa gatctgccag
1801 acgtatgggc tgcggccctg ctccaccaat ccctacatca ccctcagccc gcaggacatc
1861 aacaccaagt gggatatggt ccgaaagctg gtgcccagcc gtgaccagac actgcaggag
1921 gagctggcac ggcagcaggt aaacgagagg ctccggcgac agtttgcggc ccaggccaat
1981 gccattggac cctggatcca ggcgaaggtg gaggaagtgg ggcggctggc agcagggcta
2041 gctggctctc tggaggagca gatggctggg ctacggcagc aggagcagaa cattatcaac
2101 tacaagacta acattgaccg gctggagggt gaccaccagc tgctgcagga gagcctggtg
2161 ttcgacaata agcacaccgt ctacagcatg gagcacatcc gcgtgggctg ggagcagctg
2221 ctcacctcca ttgcccgcac catcaatgaa gtggagaacc aggtactgac ccgagacgcc
2281 aagggactga gccaggagca gctcaacgag ttccgagcat ccttcaacca ctttgacagg
2341 aagcggaatg ggatgatgga gcctgatgac ttccgagctt gcctcatctc catgggctat
2401 gacctggggg aagtggagtt tgctcgcatc atgaccatgg tggaccccaa cgcagctggg
2461 gtggtgacct tccaggcctt catagacttc atgacccgag agacagccga gactgacacg
2521 actgagcaag ttgtagcttc cttcaagatc ttggcaggag acaagaacta catcaccccc
2581 gaggagctgc ggcgcgagct ccctgccaag caggccgagt actgcatccg ccgtatggtg
2641 ccctacaagg gatccggggc cccggctgga gccctggact acgtggcctt ctccagtgcc
2701 ctctatgggg agagcgacct ttgaccccaa ccactgaggt tctctatgca agatggagag
2761 aggatgcacc ctgtggctga tcccatccgt ccctcggagc aagggcctaa gagaaaagcc
2821 agccaagtgc ttctgaataa agatccctct ctgggtca
//