LOCUS HSU46024 3411 bp mRNA linear HUM 27-AUG-1997
DEFINITION Homo sapiens myotubularin (MTM1) mRNA, complete cds.
ACCESSION U46024
VERSION U46024.1
KEYWORDS .
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 3411)
AUTHORS Laporte,J., Hu,L.J., Kretz,C., Mandel,J.L., Kioschis,P., Coy,J.F.,
Klauck,S.M., Poustka,A. and Dahl,N.
TITLE A gene mutated in X-linked myotubular myopathy defines a new
putative tyrosine phosphatase family conserved in yeast
JOURNAL Nat. Genet. 13 (2), 175-182 (1996)
PUBMED 8640223
REFERENCE 2 (bases 1 to 3411)
AUTHORS Laporte,J., Kioschis,P., Hu,L.J., Kretz,C., Coy,J., Klauck,S.,
Poutska,A., Dahl,N. and Mandel,J.L.
TITLE Direct Submission
JOURNAL Submitted (12-JAN-1996) Jocelyn Laporte, Human Genetics,
I.G.B.M.C., 1, rue Laurent Fries - BP 163, Illkirch, 67404, France
FEATURES Location/Qualifiers
source 1..3411
/db_xref="H-InvDB:HIT000219984"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="X"
/map="Xq28, between DXS7423 and DXS1684"
/note="names: G45, XAP84"
gene 1..3411
/gene="MTM1"
CDS 55..1866
/gene="MTM1"
/note="X-linked myotubular myopathy gene; protein tyrosine
phosphatase homolog"
/codon_start=1
/product="myotubularin"
/protein_id="AAC51682.1"
/translation="MASASTSKYNSHSLENESIKRTSRDGVNRDLTEAVPRLPGETLI
TDKEVIYICPFNGPIKGRVYITNYRLYLRSLETDSSLILDVPLGVISRIEKMGGATSR
GENSYGLDITCKDMRNLRFALKQEGHSRRDMFEILTRYAFPLAHSLPLFAFLNEEKFN
VDGWTVYNPVEEYRRQGLPNHHWRITFINKCYELCDTYPALLVVPYRASDDDLRRVAT
FRSRNRIPVLSWIHPENKTVIVRCSQPLVGMSGKRNKDDEKYLDVIRETNKQISKLTI
YDARPSVNAVANKATGGGYESDDAYHNAELFFLDIHNIHVMRESLKKVKDIVYPNVEE
SHWLSSLESTHWLEHIKLVLTGAIQVADKVSSGKSSVLVHCSDGWDRTAQLTSLAMLM
LDSFYRSIEGFEILVQKEWISFGHKFASRIGHGDKNHTDADRSPIFLQFIDCVWQMSK
QFPTAFEFNEQFLIIILDHLYSCRFGTFLFNCESARERQKVTERTVSLWSLINSNKEK
FKNPFYTKEINRVLYPVASMRHLELWVNYYIRWNPRIKQQQPNPVEQRYMELLALRDE
YIKRLEELQLANSAKLSDPPTSPSSPSQMMPHVQTHF"
BASE COUNT 1057 a 609 c 701 g 1044 t
ORIGIN
1 gcagccgagc agcctggcaa cggcggtggc gcccggagcc cgagagtttc caggatggct
61 tctgcatcaa cttctaaata taattcacac tccttggaga atgagtctat taagaggacg
121 tctcgagatg gagtcaatcg agatctcact gaggctgttc ctcgacttcc aggagaaaca
181 ctaatcactg acaaagaagt tatttacata tgtcctttca atggccccat taagggaaga
241 gtttacatca caaattatcg tctttattta agaagtttgg aaacggattc ttctctaata
301 cttgatgttc ctctgggtgt gatctcgaga attgaaaaaa tgggaggcgc gacaagtaga
361 ggagaaaatt cctatggtct agatattact tgtaaagaca tgagaaacct gaggttcgct
421 ttgaaacagg aaggccacag cagaagagat atgtttgaga tcctcacgag atacgcgttt
481 cccctggctc acagtctgcc attatttgca tttttaaatg aagaaaagtt taacgtggat
541 ggatggacag tttacaatcc agtggaagaa tacaggaggc agggcttgcc caatcaccat
601 tggagaataa cttttattaa taagtgctat gagctctgtg acacttaccc tgctcttttg
661 gtggttccgt atcgtgcctc agatgatgac ctccggagag ttgcaacttt taggtcccga
721 aatcgaattc cagtgctgtc atggattcat ccagaaaata agacggtcat tgtgcgttgc
781 agtcagcctc ttgtcggtat gagtgggaaa cgaaataaag atgatgagaa atatctcgat
841 gttatcaggg agactaataa acaaatttct aaactcacca tttatgatgc aagacccagc
901 gtaaatgcag tggccaacaa ggcaacagga ggaggatatg aaagtgatga tgcatatcat
961 aacgccgaac ttttcttctt agacattcat aatattcatg ttatgcggga atctttaaaa
1021 aaagtgaagg acattgttta tcctaatgta gaagaatctc attggttgtc cagtttggag
1081 tctactcatt ggttagaaca tatcaagctc gttttgacag gagccattca agtagcagac
1141 aaagtttctt cagggaagag ttcagtgctt gtgcattgca gtgacggatg ggacaggact
1201 gctcagctga catccttggc catgctgatg ttggatagct tctataggag cattgaaggg
1261 ttcgaaatac tggtacaaaa agaatggata agttttggac ataaatttgc atctcgaata
1321 ggtcatggtg ataaaaacca caccgatgct gaccgttctc ctatttttct ccagtttatt
1381 gattgtgtgt ggcaaatgtc aaaacagttc cctacagctt ttgaattcaa tgaacaattt
1441 ttgattataa ttttggatca tctgtatagt tgccgatttg gtactttctt attcaactgt
1501 gaatctgctc gagaaagaca gaaggttaca gaaaggactg tttctttatg gtcactgata
1561 aacagtaata aagaaaaatt caaaaacccc ttctatacta aagaaatcaa tcgagtttta
1621 tatccagttg ccagtatgcg tcacttggaa ctctgggtga attactacat tagatggaac
1681 cccaggatca agcaacaaca gccgaatcca gtggagcagc gttacatgga gctcttagcc
1741 ttacgcgacg aatacataaa gcggcttgag gaactgcagc tcgccaactc tgccaagctt
1801 tctgatcccc caacttcacc ttccagtcct tcgcaaatga tgccccatgt gcaaactcac
1861 ttctgagggg ggaccctggc accgcattag agctcgaaat aaaggcgata gctgactttc
1921 atttggggca tttgtaaaaa gtagattaaa atatttgcct ccatgtagaa cttgaactaa
1981 cataatctta aactcttgaa tatgtgcctt ctagaataca tattacaaga aaactacagg
2041 gtccacacgg caatcagaag aaaggagctg agatgaggtt ttggaaaacc ctgacacctt
2101 taaaaagcag tttttgaaag acaaaattta gatttaattt acgtcttgag aaatactata
2161 tatacaatat atatgggggg ggcttaattg aaacaacatt attttaaaat caaaggggat
2221 atatgtttgt ggaatggatt ttcctgaagc tgcttaacag ttgctttgga ttctctaaga
2281 tgaatccaaa tgtgaaagat gcatgttact gccaaaacca aattgagctc agcttcctag
2341 gcattaccca aaagcaaggt gtttaagtaa ttgccagctt ttataccatc atgagtggtg
2401 acttaaggag aaatagctgt atagatgagt ttttcattat ttggaaattt aggggtagaa
2461 aatgttttcc cctaattttc cagagaagcc tatttttata tttttaaaaa actgacaggg
2521 cccagttaaa tatgatttgc attttttaaa tttgccagtt ttattttcta aattctttca
2581 tgagcttgcc taaaattcgg aatggttttc gggttgtggc aaaccccaaa gagagcactg
2641 tccaaggatg tcgggagcat cctgctgctt aggggaatgt tttcgcaaat gttgctctag
2701 tcagtccagc tcatctgcca aaatgtaggg ctaccgtctt ggatgcatga gctattgcta
2761 gagcatcatc cttagaaatc agtgccccag atgtacatgt gttgagcgta ttcttgaagt
2821 attgtgttta tgcatttcaa tttcaatggt gttggcttcc cctccccacc ccacgcgtgc
2881 ataaaaactg gttctacaaa tttttacttg aagtaccagg ccgtttgctt tttcaggttg
2941 ttttgtttta tagtattaag tgaaatttta aatgcacagt tctatttgct atctgaacta
3001 attcatttat taagtatatt tgtaaaagct aaggctcgag ttaaaacaat gaagtgtttt
3061 acaatgattt gtaaaggact atttataact aatatggttt tgttttcaat gaattaagaa
3121 agattaaata tatctttgta aattatttta tgtcatagtt taattggtct cccaagtaag
3181 acatctcaaa tacagtagta taatgtatga attttgtaag tataagaaat tttattagac
3241 attctcttac tttttgtaaa tgctgtaaat atttcataaa ttaacaaagt gtcactccat
3301 aaaaagaaag ctaatactaa tagcctaaaa gattttgtga aatttcatga aaacttttta
3361 atggcaataa tgactaaaga cctgctgtaa taaatgtatt aactgaaacc t
//