LOCUS D14720 3353 bp DNA linear HUM 30-SEP-2008
DEFINITION Homo sapiens MPZ gene for peripheral myelin protein zero, complete
cds.
ACCESSION D14720 D14583-D14584
VERSION D14720.2
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 3353)
AUTHORS Hayasaka,K.
TITLE Direct Submission
JOURNAL Submitted (08-MAR-1993) to the DDBJ/EMBL/GenBank databases.
Contact:Kiyoshi Hayasaka
Yamagata University School of Medicine, Department of Pediatrics;
2-2-2 Iida Nishi, Yamagata, Yamagata 990-23, Japan
REFERENCE 2
AUTHORS Hayasaka,K., Nanao,K., Tahara,M., Sato,W., Takada,G., Miura,M. and
Uyemura,K.
TITLE Isolation and sequence determination of cDNA encoding the major
structural protein of human peripheral myelin
JOURNAL Biochem. Biophys. Res. Commun. 180, 515-518 (1991)
REFERENCE 3
AUTHORS Hayasaka,K., Ohnishi,A., Takada,G., Fukushima,Y. and Murai,Y.
TITLE Mutation of the myelin Po gene in Charcot-Marie-tooth neuropathy
type 1
JOURNAL Cell. Mol. Biol. Res. 194, 1317-1322 (1993)
REFERENCE 4
AUTHORS Hayasaka,K., Himoro,M., Wang,Y., Takata,M., Minoshima,S.,
Shimizu,N., Miura,M., Uyemura,K. and Takada,G.
TITLE Structure and chromosomal localization of the gene encoding the
human myelin protein zero (MPZ)
JOURNAL Genomics 17, 755-758 (1993)
REFERENCE 5
AUTHORS Hayasaka,K., Takada,G. and Ionasescu,V.V.
TITLE Mutation of the myelin Po gene in Charcot-Marie-Tooth neuropathy
type 1B
JOURNAL Hum. Mol. Genet. 2, 1369-1372 (1993)
REFERENCE 6
AUTHORS Hayasaka,K., Himoro,M., Sawaishi,Y., Nanao,K., Takahashi,T.,
Takada,G., Nicholson,G.A., Ouvirier,R.A. and Tachi,N.
TITLE De novo mutation of the myelin Po gene in Dejerine-Sottas disease
(hereditary motor and sensory neuropathy type III)
JOURNAL Nat. Genet. 5, 266-268 (1993)
COMMENT
FEATURES Location/Qualifiers
source 1..3353
/chromosome="1"
/clone="HP01"
/db_xref="taxon:9606"
/dev_stage="fetus"
/map="1q22-q23"
/mol_type="genomic DNA"
/organism="Homo sapiens"
/tissue_type="spinal cord"
regulatory 171..174
/regulatory_class="CAAT_signal"
regulatory 239..242
/regulatory_class="CAAT_signal"
regulatory 287..294
/regulatory_class="TATA_box"
exon 319..448
/note="MZP"
/number=1
/product="peripheral myelin protein zero"
CDS join(352..448,641..807,1184..1397,1642..1777,1937..1997,
2128..2229)
/codon_start=1
/note="MPZ"
/note="homophilic adhesion molecule"
/product="peripheral myelin protein zero"
/protein_id="BAA03540.1"
/translation="MLRAPAPAPAMAPGAPSSSPSPILAVLLFSSLVLSPAQAIVVYT
DREVHGAVGSRVTLHCSFWSSEWVSDDISFTWRYQPEGGRDAISIFHYAKGQPYIDEV
GTFKERIQWVGDPRWKDGSIVIHNLDYSDNGTFTCDVKNPPDIVGKTSQVTLYVFEKV
PTRYGVVLGAVIGGVLGVVLLLLLLFYVVRYCWLRRQAALQRRLSAMEKGKLHKPGKD
ASKRGRQTPVLYAMLDHSRSTKAVSEKKAKGLGESRKDKK"
gap 504..603
/estimated_length=unknown
exon 641..807
/note="MZP"
/number=2
/product="peripheral myelin protein zero"
gap 1024..1123
/estimated_length=unknown
exon 1184..1397
/number=3
exon 1642..1777
/number=4
exon 1937..1997
/number=5
exon 2128..3353
/number=6
BASE COUNT 669 a 927 c 851 g 706 t
ORIGIN
1 ttgaggttcc atatctatcc ctcagagaag tgtgtctgtg tccctgtttt tgtccctctc
61 cctcaccacc ccccacaaca ttccagcctg gggcaggggg aggccagtgg acacaaagcc
121 ctctgtgtat ggggtggtat gtgtcccccc acccctccac ccagactata caatgcccct
181 tctgctccct gcactctgcc cccctcccca ccacctctca actgcacatg ccaggctgca
241 attggttact ggctgaggac agccccctca tgctggggcc ctaggggatt ttaagcaggt
301 tccaggaacc ccccgttcag ttcctggtcc cccactttct caaccccaca gatgctccgg
361 gcccctgccc ctgccccagc tatggctcct ggggctccct catccagccc cagccctatc
421 ctggctgtgc tgctcttctc ttctttgggt aagtggagcc actctactct gggagtcttg
481 ggactcaggt gtctctcagc aatnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
541 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
601 nnnccatagg tgcatctgat tccccacttt gtgcttgcag tgctgtcccc ggcccaggcc
661 atcgtggttt acaccgacag ggaggtccat ggtgctgtgg gctcccgggt gaccctgcac
721 tgctccttct ggtccagtga gtgggtctca gatgacatct ccttcacctg gcgctaccag
781 cccgaaggag gcagagatgc catttcggtg agtgcctggg ggaatcctgg ggttggataa
841 cagaaagtgc ttcaaagaac aacaaaaaag ataacttggg ctaaggaggg ggaaatcctt
901 tttgagccat aaccccaact ttggcaaggt aaatgacagt ctttgtcacc ctgactacat
961 tgtcctccct tctccagcac taccctttcc agcccaagat cccttaccct gaggctggag
1021 cgannnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
1081 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnagctttg acagctgtgt
1141 tctcattagg gtcctctcac atgcttcccc tcattcctca tagatcttcc actatgccaa
1201 gggacaaccc tacattgacg aggtggggac cttcaaagag cgcatccagt gggtagggga
1261 ccctcgctgg aaggatggct ccattgtcat acacaaccta gactacagtg acaatggcac
1321 gttcacttgt gacgtcaaaa accctccaga catagtgggc aagacctctc aggtcacgct
1381 gtatgtcttt gaaaaaggtg tgagaaggga tggggacaag ggtatgggaa gcagtttggg
1441 aggggatcta gggaggactg acaggttggg ggaagaggca aaaagcccgg cctaaggacc
1501 tttattcagg ctctgggagc gtgggcagaa ggcagtttta gctgggagtc ctacatcctc
1561 aatgcagggc atacactcgg actaggaacc acagatacag ggccctgctc attctcccac
1621 ttcttttccc acccctccta gtgccaacta ggtacggggt cgttctggga gctgtgatcg
1681 ggggtgtcct cggggtggtg ctgttgctgc tgctgctttt ctacgtggtt cggtactgct
1741 ggctacgcag gcaggcggcc ctgcagagga ggctcaggta agggcggagc ctagctcccc
1801 tccccctctc cccactatcc cccatctggg cggagactac tccagtgggt gggagggcca
1861 aggggaagag gaagctgtgt ccgcggtgca aggggttccg gcgaggccaa agtacagcag
1921 tcttctcttc ttgcagtgct atggagaagg ggaaattgca caagccagga aaggacgcgt
1981 cgaagcgcgg gcggcaggtt agcgggactt ggggcctaga caagatggga aggagaaccc
2041 tgggagccgc cgggcagcag tgaggggtgg gatgggaaca gtcaagcccc agtcgctcgg
2101 tgactgatgt gtgcccccct cccccagacg ccagtgctgt atgcaatgct ggaccacagc
2161 agaagcacca aagctgtcag tgagaagaag gccaaggggc tgggggagtc tcgcaaggat
2221 aagaaatagc ggttagcggg ccgggcgggg gatcgggggt taggggtgga gtccgccaaa
2281 ggcccaaagg tgatggtcat cgagatggag ctacgaaagg atgagcagag cccggagctc
2341 cggcctgctg tcaagtcccc cagcagaacc agcctcaaaa acgccctcaa gaacatgatg
2401 ggcctgaact cggacaagtg atcgccaccc ccccacccca ggccctgcca gagcaggggg
2461 acctaggctc ctcttacccc cgtctaggtg ctttccctct ttgctccccc gccctgccct
2521 gccctcacct ccctttgaga cgtaagtttc attccagaat tcattcccca ggcaattgta
2581 ttctccccca ccttcacccc tggctttctg ggagcccagg agctaatcct acccctcacc
2641 tgccccgggg gctgtgtgtt tggtgcctgt ccacctgagc actgagaaga aagggacttt
2701 gataccctct gcctcaagtc caggccacct ggcattccca tctcctgcat cccccagcct
2761 gtccccctgg ctgtttcctc tcccgtccct ccctcccctc taccaggtgg cccagctcca
2821 tactctgtcc ccccagctaa tacccagagc acccagatca gactctcctt cagggtttat
2881 ttaggttatt attttttatt ttttaatcca ttctttgttt gtttacctgt gctcatcctc
2941 tgcccttaca cccatgactg aggaccaatg acgtcatgtg gcttttgcaa ttcacgcccc
3001 ccttaagtcc ttaatgaaga gccagcccaa gtagaggggc ccctgatcct cacacttcag
3061 tatagcattg gttccccctg accactttgg agcactgttc tgggactcca ggtcttgagg
3121 agagagacag agagagagaa tggatcctca taggtcaggg agtgggggag ggggcaaatg
3181 agccttaaga aatggttttt aaacaaccaa acaaaaagca ggaaaaacaa atgggaaatg
3241 ggggggcggg ggggaggaag aggctgcact gcagccacag gggattctta ggatttttct
3301 acattctgta tatttcttct caaacctcca aatgtcctta aatgtttaat aaa
//