LOCUS HUMFSHD 3303 bp DNA linear HUM 15-SEP-2007
DEFINITION Homo sapiens FSHD gene for facioscapulohumeral muscular dystrophy,
complete cds, 4Z4 tandem repeat unit.
ACCESSION D38024
VERSION D38024.1
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 3303)
AUTHORS Lee,J.
TITLE Direct Submission
JOURNAL Submitted (22-AUG-1994) to the DDBJ/EMBL/GenBank databases.
Contact:Je Hyeon Lee
National Institute of Neuroscience, NCNP, Department of
Neuromusclar Research; 4-1-1 Ogawa-higashi, Kodaira, Tokyo 187,
Japan
REFERENCE 2
AUTHORS Lee,J., Goto,K., Matsuda,C. and Arahata,K.
TITLE Characterization of a tandemly repeated 3.3kb KpnI unit in the
facioscapulohumeral muscular dystrophy (FSHD) gene region on
chromosome 4q35
JOURNAL Muscle Nerve 2, S6-S13 (1995)
COMMENT
FEATURES Location/Qualifiers
source 1..3303
/chromosome="4"
/clone="c51"
/db_xref="taxon:9606"
/map="4q35-qter"
/mol_type="genomic DNA"
/organism="Homo sapiens"
repeat_region 1..3303
/function="unknown"
/note="3303bps KpnI fragment in FSHD gene region contains
other repeat and sequence motive"
/rpt_family="D4Z4"
/rpt_type=tandem
repeat_region 1..300
/function="unknown"
/note="region with similarity to Lsau(GenBank X59423),
Part of tandem repeat D4Z4"
/rpt_type=other
misc_feature 393..578
/function="unknown"
/note="extremly G-rich region in 186bps. Part of tandem
repeat locus D4Z4"
repeat_region 398..578
/note="microsatellite of GGAGG, Part of tantem repeat
locus D4Z4"
/rpt_type=direct
CDS 417..2978
/gene="FSHD"
/note="ORF"
/product="facioscapulohumeral muscular dystrophy"
/protein_id="BAA07227.1"
/translation="MERGTGETRGAEGTLGGRQGGREAGRNGGRDRATQGLGAGPREP
GTDGGRKAGRKSGPRPPGVAGPPASGKTVSVRRGLRAGPTAAAPAGGAPPIRPGSGAQ
GVGGFLRDKRPGLGLPSGLHPRGSQTAHPQAEPCNAARGPQTRPRRSHTQDDGGVILV
SEWLCPPEGGLLLTSLRPPKGWPCRLFAPGALRHPETCREGCKPGMVPSLSLPGSKPA
TLQTPPRCRTRESIVRPSRRGGISSLGSRSGLLRGNEREPHACVCETVPATATPTGIA
SFTERGPGTLKTPTEVQFHTPLHPPRLVSPCCRRVGAQRAASRSRGIPGEVRRAGPRN
APPSPLPPLPLPLRLSGPTTTTATTPPPPPPPPTTTTTTTPPAGPRPRRPGSLPGWGG
LSQGGSPPFMKGWSLPACGPLQGRLAGWLAVRAGLLAAPAAVHSPAEVHGSPPASLCP
RPSVKFRPGLTAMALPTPSDSTLPAEARGRGRPRRLVWTPSQSEALRACFERNPYPGI
ATRERLAQAIGIPEPRVQIWFQNERSRQLRQHRRESRPWPGRRGPPEGRRKRTAVTGS
QTALLLRAFEKDRFPGIAAREELARETGLPESRIQIWFQNRRARHPGQGGRAPAQAGG
LCSAAPGGGHPAPSWVAFAHTGAWGTGLPAPHVPCAPGALPQGAFVSQAARAAPALQP
SQAAPAEGVSQPAPARGDFAYAAPAPPEPGRSPTLRLLGGLRTRAKAGRTGTRSATAC
RAPARWHSLGPLKRGRRPRGACATHVPGESVVGLGPGSPGRRGGVGTPSRGSSTSPAR
APGTPPPPRGRGRCKASRRPPRRSRSRRPGLHSPAACCWMSSWRARSFCSRRNLS"
misc_feature 1405..1554
/function="unknown"
/note="Extremly C-rich region(69%) in 186bps. Part of
tandem repeat locus 4DZ4."
repeat_region 1470..1536
/note="microsatellite of CCA, Part of tandem repeat locus
D4Z4"
/rpt_type=direct
repeat_region 1590..1703
/note="microsatellite of GGCT, Part of tandem repeat
locus D4Z4"
/rpt_type=direct
misc_feature 1863..2037
/function="unknown"
/note="paired type homeodomain seq I,
translation;PRRLVWTPSQSEALRACFERNPYPGIATRERLAQAIGIPEPRVQIW
FQNERSRQLR"
misc_feature 2082..2264
/function="unknown"
/note="paired type homeodomain seq II,
translationGRRKRTAVTGSQTALLLRAFEKDRFPGIAAREELARETGLPESRIQI
WFQNRRARHPGQG"
BASE COUNT 486 a 1257 c 1142 g 418 t
ORIGIN
1 ggtaccagca ggtgggccgc ctactgcgca cgcgcgggtt tgcgggcagc cgcctgggct
61 gtgggagcag cccgggccag agctctcctg cctctccacc agcccacccc gccgcctgac
121 cgccccctcc ccacccccca ccccccaccc ccggaaaacg cgtcgtcccc tgggctgggt
181 ggagaccccc gtcccgcgaa acaccgggcc ccgcgcagcg tccgggcctg acaccgctcc
241 gccggctcgc ctcctcctgt cgcccccggg ccaccgtcgc ccgcccgccc gggcccctgc
301 gggcccctgc agccgcccag ctgccagcac gggcggctgg cggcggaacg cagaccccag
361 gcccggcgca caccggggac gctgagcgtt ccaggcggga gggaaggcgg gcagagatgg
421 agagaggaac gggagagact agaggggcgg aagggacgtt aggagggagg cagggaggca
481 gggaggcagg gaggaacgga gggagagaca gagcgacgca gggactgggg gcggggccga
541 gggagccggg gacggacggg gggaggaagg cagggaggaa aagcggtcct cggcctccgg
601 gagtagcggg accgcccgcc tccgggaaaa cggtcagcgt ccggcgcggg ctgagggctg
661 ggcccacagc cgccgcgccg gccggcgggg caccacccat tcgccccggt tccggggccc
721 agggagtggg cggtttcctc cgggacaaaa gaccgggact cgggttgccg tcgggtcttc
781 acccgcgcgg ttcacagacc gcacatcccc aggctgagcc ctgcaacgcg gcgcgaggcc
841 cacagacccg gccacggagg agccacacgc aggacgacgg aggcgtgatt ttggtttccg
901 agtggctttg ccctcccgaa ggcggcctgt tgctcacgtc tctccggccc ccgaaaggct
961 ggccatgccg actgtttgct cccggagctc tgcggcaccc ggaaacatgc agggaagggt
1021 gcaagcccgg catggtgcct tcgctctcct tgccaggttc caaacccgcc acactgcaga
1081 ctcccccacg ttgccgcacg cgggaatcca tcgtcaggcc atcacgccgg ggaggcatct
1141 cctctctggg gtctcgctct ggtcttctac gtggaaatga acgagagcca cacgcctgcg
1201 tgtgcgagac cgtcccggca acggcgacgc ccacaggcat tgcctccttc acggagagag
1261 ggcctggcac actcaagact cccacggagg ttcagttcca cactcccctc caccctccca
1321 ggctggtttc tccctgctgc cgacgcgtgg gagcccagag agcggcttcc cgttcccgcg
1381 ggatccctgg agaggtccgg agagccggcc cccgaaacgc gcccccctcc cccctccccc
1441 ctctccccct tcctcttcgt ctctccggcc ccaccaccac caccgccacc acgcctcccc
1501 caccaccccc cccccccacc accaccacca ccaccacccc gccggccggc cccaggcctc
1561 gacgccctgg gtcccttccg gggtggggcg ggctgtccca ggggggctca ccgccattca
1621 tgaaggggtg gagcctgcct gcctgtgggc ctttacaagg gcggctggct ggctggctgg
1681 ctgtccgggc aggcctcctg gctgcacctg ccgcagtgca cagtccggct gaggtgcacg
1741 ggagcccgcc ggcctctctc tgcccgcgtc cgtccgtgaa attccggccg gggctcaccg
1801 cgatggccct cccgacaccc tcggacagca ccctccccgc ggaagcccgg ggacgaggac
1861 ggccacggag actcgtttgg accccgagcc aaagcgaggc cctgcgagcc tgctttgagc
1921 ggaacccgta cccgggcatc gccaccagag aacggctggc ccaggccatc ggcattccgg
1981 agcccagggt ccagatttgg tttcagaatg agaggtcacg ccagctgagg cagcaccggc
2041 gggaatctcg gccctggccc gggagacgcg gcccgccaga aggccggcga aagcggaccg
2101 ccgtcaccgg atcccagacc gccctgctcc tccgagcctt tgagaaggat cgctttccag
2161 gcatcgccgc ccgggaggag ctggccagag agacgggcct cccggagtcc aggattcaga
2221 tctggtttca gaatcgaagg gccaggcacc cgggacaggg tggcagggcg cccgcgcagg
2281 caggcggcct gtgcagcgcg gcccccggcg ggggtcaccc tgctccctcg tgggtcgcct
2341 tcgcccacac cggcgcgtgg ggaacggggc ttcccgcacc ccacgtgccc tgcgcgcctg
2401 gggctctccc acagggggct ttcgtgagcc aggcagcgag ggccgccccc gcgctgcagc
2461 ccagccaggc cgcgccggca gagggggtct cccaacctgc cccggcgcgc ggggatttcg
2521 cctacgccgc cccggctcct ccggagccgg ggcgctctcc caccctcagg ctcctcggtg
2581 gcctccgcac ccgggcaaaa gccgggagga ccgggacccg cagcgcgacg gcctgccggg
2641 cccctgcgcg gtggcacagc ctgggcccgc tcaagcgggg ccgcaggcca aggggtgctt
2701 gcgccaccca cgtcccaggg gagtccgtgg tggggctggg gccggggtcc ccaggtcgcc
2761 ggggcggcgt gggaacccca agccggggca gctccacctc cccagcccgc gcccccggga
2821 cgcctccgcc tccgcgcggc aggggcagat gcaaggcatc ccggcgccct cccaggcgct
2881 ccaggagccg gcgccctggt ctgcactccc ctgcggcctg ctgctggatg agctcctggc
2941 gagcccggag tttctgcagc aggcgcaacc tctcctagaa acggaggccc cgggggagct
3001 ggaggcctcg gaagaggcgc ctcgctggaa gcacccctca gcgaggaaga ataccgggct
3061 ctgctggagg agctttagga cgcggggttg ggacggggtc gggtggttcg gggcagggcg
3121 gtggcctctc tttcgcgggg aacacctggc tggctacgga ggggcgtgtc tccgccccgc
3181 cccctccacc gggctgaccg gcctgggatt cctgccttct aggtccaggc ccggtgagag
3241 actccacacc gcggagaact gccattcttt cctgggcatc ccggggatcc cagagccggc
3301 cca
//