LOCUS AY049075 1542 bp mRNA linear HUM 26-JUL-2016
DEFINITION Homo sapiens dynein heavy chain (DNAH5) mRNA, partial cds.
ACCESSION AY049075
VERSION AY049075.1
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 1542)
AUTHORS Omran,H., Haffner,K., Volkel,A., Kuehr,J., Ketelsen,U.P.,
Ross,U.H., Konietzko,N., Wienker,T., Brandis,M. and Hildebrandt,F.
TITLE Homozygosity mapping of a gene locus for primary ciliary dyskinesia
on chromosome 5p and identification of the heavy dynein chain DNAH5
as a candidate gene
JOURNAL Am. J. Respir. Cell Mol. Biol. 23 (5), 696-702 (2000)
PUBMED 11062149
REFERENCE 2 (bases 1 to 1542)
AUTHORS Omran,H., Haffner,K., Volkel,A., Joachim,K., Ketelsen,U.P.,
Ross,U.H., Konietzko,N., Wienker,T., Brandis,M. and Hildebrandt,F.
TITLE Direct Submission
JOURNAL Submitted (31-JUL-2001) University Children's Hospital Freiburg,
Mathildenstrasse 1, Freiburg 79106, Germany
FEATURES Location/Qualifiers
source 1..1542
/db_xref="H-InvDB:HIT000083830"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="5"
/map="5p15-p14"
/clone="HL1-4a2"
/tissue_type="testis"
gene <1..>1542
/gene="DNAH5"
CDS <1..>1542
/gene="DNAH5"
/codon_start=1
/product="dynein heavy chain"
/protein_id="AAL06603.1"
/translation="TPLTDRCYITLAQALGMSMGGAPAGPAGTGKTETTKDMGRCLGK
YVVVFNCSDQMDFRGLGRIFKGLAQSGAWGCFDEFNRIDLPVLSVAAQQISIILTCKK
EHKKSFIFTDGDNVTMNPEFGLFLTMNPGYAGRQELPENLKINFRSVAMMVPDRQIII
RVKLASCGFIDNVVLARKFFTLYKLCEEQLSKQVHYDFGLRNILSVLRTLGAAKRANP
MDTESTIVMRVLRDMNLSKLIDEDEPLFLSLIENLFPNILLDKAGYPELEAAINRQVE
KAGLINHPPWKLKVIQQTKTQRVRHGMMTLGPSGAGKTTCIHTLMRAMTDCGKPHREM
RMNPKAITAPQMFGRLDVATNDWTDGIFSTLWRKTLRAKKGEHIWIILDGPVDAIWIE
NLNSVLDDNKTLTLANGDRIPMAPNCKIIFEPHNIDNASPATVSRNGMVFMSSSILDW
SPILEGFLKKRSPQEAEILRQLYTESFPDLYRFCIQNLEYKMEVLEAFVITQSINMLQ
GLIPLK"
BASE COUNT 426 a 336 c 369 g 411 t
ORIGIN
1 acgccactga cagacagatg ctacatcacg ctggctcaag ctctgggaat gagcatgggg
61 ggagcccctg ctggacctgc aggcacaggc aaaacagaaa ccactaaaga catgggacga
121 tgcctcggga aatacgtcgt ggttttcaat tgttcagacc agatggattt ccgaggactt
181 ggacggattt ttaagggact ggcacagtct ggagcctggg gctgttttga cgaattcaac
241 cgtattgatc taccagttct ctcggttgca gcccagcaaa tttccattat tctgacatgt
301 aaaaaggagc acaaaaagtc ttttatcttt actgatggag ataatgtgac tatgaaccct
361 gaatttgggc ttttcttaac catgaatcct ggctatgccg gacggcagga actccctgaa
421 aacttgaaga ttaatttccg ctcagtggcc atgatggtgc ctgaccgtca gattatcata
481 agggtgaagt tggctagttg tggcttcatt gacaacgttg ttttggccag gaagtttttc
541 acgctctaca aactgtgtga ggagcagctt tctaagcagg tccattatga ctttggcctg
601 cgtaacattc tgtcagttct tcggaccttg ggagcagcaa aaagagccaa tccaatggat
661 acggagtcca cgattgtcat gcgtgtacta cgggacatga atctttctaa actgattgat
721 gaggatgaac ccttgttttt gagtttgatt gaaaatctct ttccaaatat tcttctggac
781 aaggcaggtt accctgaact ggaagcagca attaatagac aggttgaaaa agctggttta
841 atcaaccatc ctccttggaa actgaaggtc atccagcaaa ccaaaacgca aagagtgcga
901 catgggatga tgactctggg gcccagtggg gctgggaaga ccacctgcat ccacaccttg
961 atgagagcca tgacagattg tggaaaacca catcgggaaa tgaggatgaa tcccaaagcg
1021 attactgccc cacagatgtt tggtcggctg gacgttgcca caaatgactg gactgatggg
1081 atattttcta cgctttggag gaaaacatta agagcaaaga aaggggaaca tatctggata
1141 attcttgatg gtccagtaga tgccatctgg attgaaaatc tgaattctgt tttggatgat
1201 aacaaaactc taacccttgc caatggtgat cggattccca tggctccaaa ctgcaagatc
1261 attttcgagc ctcataacat tgacaatgct tctcctgcca ccgtctcaag aaatggaatg
1321 gttttcatga gctcttctat ccttgattgg agtcctattc ttgagggttt tcttaagaaa
1381 cgctcacctc aagaagcaga aattcttcgt cagctgtaca ccgagtcttt cccagacttg
1441 tatcgcttct gtatccagaa cttagaatac aagatggagg tgctggaggc ctttgtcatc
1501 acacagagca ttaacatgct tcaaggcctg attcctctga ag
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