LOCUS AF502586 5249 bp mRNA linear HUM 24-JAN-2014
DEFINITION Homo sapiens KIAA0377 splice variant 1 mRNA, complete cds,
alternatively spliced.
ACCESSION AF502586
VERSION AF502586.1
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 5249)
AUTHORS Avidan,N., Dgany,O., Cattan,D., Pariente,A., Thulliez,M., Borot,N.,
Moati,L., Alain,B., Krasnov,T., Olender,T., Shalmon,L.,
Ben-Asher,E., Khen,M., Shalev,H., Fellous,M., Delaunay,J.,
Yaniv,I., Zaizov,R., Beckmann,J.S., Lancet,D. and Tamary,H.
TITLE A 60kb genomic deletion is associated with non-syndromic deafness
and sperm motility disorder but not with congenital
dyserythropoietic anemia type I
JOURNAL Unpublished
REFERENCE 2 (bases 1 to 5249)
AUTHORS Avidan,N., Dgany,O., Cattan,D., Pariente,A., Thulliez,M., Borot,N.,
Moati,L., Alain,B., Krasnov,T., Olender,T., Shalmon,L.,
Ben-Asher,E., Khen,M., Shalev,H., Fellous,M., Delaunay,J.,
Yaniv,I., Zaizov,R., Beckmann,J.S., Lancet,D. and Tamary,H.
TITLE Direct Submission
JOURNAL Submitted (16-APR-2002) Department of Molecular Genetics, The
Weizmann Institute of Science, Hertzel Street, Rehovot 76100,
Israel
FEATURES Location/Qualifiers
source 1..5249
/db_xref="H-InvDB:HIT000080947"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/tissue_type="trachea"
CDS 95..4387
/note="alternatively spliced"
/codon_start=1
/product="KIAA0377 splice variant 1"
/protein_id="AAP30842.1"
/translation="MWSLTASEGESTTAHFFLGAGDEGLGTRGIGMRPEESDSELLED
EEDEVPPEPQIIVGICAMTKKSKSKPMTQILERLCRFDYLTVVILGEDVILNEPVENW
PSCHCLISFHSKGFPLDKAVAYSKLRNPFLINDLAMQYYIQDRREVYRILQEEGIDLP
RYAVLNRDPARPEECNLIEGEDQVEVNGAVFPKPFVEKPVSAEDHNVYIYYPSSAGGG
SQRLFRKIGSRSSVYSPESSVRKTGSYIYEEFMPTDGTDVKVYTVGPDYAHAEARKSP
ALDGKVERDSEGKEIRYPVMLTAMEKLVARKVCVAFKQTVCGFDLLRANGHSFVCDVN
GFSFVKNSMKYYDDCAKILGNTIMRELAPQFQIPWSIPTEAEDIPIVPTTSGTMMELR
CVIAIIRHGDRTPKQKMKMEVKHPRFFALFEKHGGYKTGKLKLKRPEQLQEVLDITRL
LLAELEKEPGGEIEEKTGKLEQLKSVLEMYGHFSGINRKVQLTYYPHGVKASNEGQDP
QRETLAPSLLLVLKWGGELTPAGRVQAEELGRAFRCMYPGGQGDYAGFPGCGLLRLHS
TFRHDLKIYASDEGRVQMTAAAFAKGLLALEGELTPILVQMVKSANMNGLLDSDGDSL
SSCQHRVKARLHHILQQDAPFGPEDYDQLAPTRSTSLLNSMTIIQNPVKVCDQVFALI
ENLTHQIRERMQDPRSVDLQLYHSETLELMLQRWSKLERDFRQKSGRYDISKIPDIYD
CVKYDVQHNGSLGLQGTAELLRLSKALADVVIPQEYGISREEKLEIAVGFCLPLLRKI
LLDLQRTHEDESVNKLHPLYSRGVLSPGRHVRTRLYFTSESHVHSLLSVFRYGGLLDE
TQDAQWQRALDYLSAISELNYMTQIVIMLYEDNTQDPLSEERFHVELHFSPGVKGVEE
EGSAPAGCGFRPASSENEEMKTNQGSMENLCPGKASDEPDRALQTSPQPPEGPGLPRR
SPLIRNRKAGSMEVLSETSSSRPGGYRLFSSSRPPTEMKQSGLGSQCTGLFSTTVLGG
SSSAPNLQDYARSHGKKLPPASLKHRDELLFLPAVKRFSVSFAKHPTNGGFEGCSMVP
TIYPLETLHNALSLRQVSEFLSRVCQRHTDAQAQASAALFDSMHSSQASDNPFSPPRT
LHSPPLQLQQRSEKPPWYSSGPSSTVSSAGPSSPTTVDGNSQFGFSDQPSLNSHVAEE
HQGLGLLQETPGSGAQELSIEGEQELFEPNQSPQVPPMETSQPYEEVSQPCQEVPDIS
QPCQDISEALSQPCQKVPDISQQCQENHDNGNHTCQEVPHISQPCQKSSQLCQKVSEE
VCQLCLENSEEVSQPCQGVSVEVGKLVHKFHVGVGSLVQETLVEVGSPAEEIPEEVIQ
PYQEFSVEVGRLAQETSAINLLSQGIPEIDKPSQEFPEEIDLQAQEVPEEIN"
BASE COUNT 1280 a 1350 c 1377 g 1242 t
ORIGIN
1 tgcctttccc atttgctgca tgaagttaat gtttcttgct ggccaaatca gggacatgcc
61 ggcattagcg ggatgagtgg gtgttccggc agggatgtgg tcattgacgg ccagtgaggg
121 cgagagtacc acggcccact tcttccttgg agctggagat gaggggctgg gcacccgtgg
181 aataggcatg aggccagaag agagtgacag cgagctcctt gaggatgagg aggatgaagt
241 gcctcctgaa cctcagatca ttgttggcat ctgtgccatg accaagaaat ccaagtccaa
301 gccaatgact caaatcctag agcgactctg cagatttgac tacctgactg ttgtcattct
361 gggagaagat gtaatcctta atgaacctgt ggaaaactgg ccatcctgcc actgcctcat
421 ctctttccac tccaaaggct ttcctctgga caaagctgtt gcttactcca agcttcgaaa
481 cccctttctt atcaatgatc tggccatgca gtattacatc caagatagga gggaggtgta
541 ccggatcctg caggaagagg gtattgatct gcctcgatat gctgtgctca accgtgatcc
601 tgcccggcct gaggaatgca acctgataga aggtgaagac caagtagagg tcaatggagc
661 tgtctttccc aagccctttg tggagaagcc agtgagtgca gaagaccaca atgtttacat
721 ctactacccc agctcagctg gaggaggaag ccagcgtctc tttcgtaaga ttggcagccg
781 aagcagtgtt tactctcctg agagcagcgt ccgaaagacg gggtcgtaca tctatgagga
841 gtttatgcca acagatggca cagatgtcaa ggtgtataca gtggggccag attatgccca
901 tgctgaagct agaaaatctc cagctttgga tgggaaggtt gaacgagaca gtgaggggaa
961 agagattcga tatccagtca tgctgactgc catggaaaag ctggtggcca ggaaagtctg
1021 cgtagctttc aagcaaacag tttgtggatt tgaccttctt cgtgccaatg gtcattcctt
1081 tgtgtgtgat gtcaatggct ttagttttgt caagaactcg atgaaatact acgatgactg
1141 tgccaagatt ctggggaaca ccataatgcg ggagcttgcc ccacagttcc agattccatg
1201 gtccatcccc acggaggctg aggacattcc cattgttccc accacatctg gcactatgat
1261 ggaacttcgt tgtgtcattg caattattcg tcatggggat cgtactccca agcagaagat
1321 gaagatggaa gtgaaacacc caaggttttt tgctctgttt gaaaaacatg gtggctacaa
1381 gacagggaaa ttaaaactca agcgacctga gcagctccag gaggtgctgg atatcacaag
1441 gctgttgttg gctgaactgg agaaagaacc aggtggtgag atcgaggaga agactggaaa
1501 actagagcag ctgaagtctg tactggagat gtatggtcac ttctcaggta taaaccggaa
1561 ggtacaattg acttactacc ctcatggagt aaaagcttct aatgaggggc aagatccaca
1621 gagggaaact ctggccccat ctctgttgct ggtactgaag tggggtggag aactgactcc
1681 tgctggccgt gttcaggctg aggagctggg gcgagctttt cgctgcatgt accctggagg
1741 acagggtgac tatgctggct tccctggttg tgggctgctt cgtctccata gcactttccg
1801 ccacgatctc aagatctatg cctctgatga gggtcgtgtt cagatgactg ctgctgcctt
1861 cgccaagggc cttctggctc tagaagggga gctgacaccc attttggtgc aaatggtgaa
1921 gagtgccaac atgaatgggc tactggacag cgatggggat tccttgagca gctgccagca
1981 ccgggtgaag gctcggctgc accatattct acagcaggat gcaccctttg gccctgagga
2041 ctacgatcag ctggctccca ccagaagtac ttccctgctc aactccatga ctatcatcca
2101 gaatcctgtg aaggtctgtg atcaggtatt tgccctgatc gaaaacctca cccaccagat
2161 ccgggaacga atgcaggacc ccaggtctgt agacctgcag ctctaccaca gtgagacact
2221 agagctaatg ctacagcgtt ggagcaagct ggagcgtgac tttcgacaga agagtgggcg
2281 ctatgatatc agtaagatcc ctgacatcta tgactgtgtc aagtatgatg tgcagcacaa
2341 tgggagtctg ggacttcaag gcacagcaga gttgctccgt ctctctaagg cactggctga
2401 tgtggtcatt ccccaggagt acgggatcag tcgggaggag aaactggaaa ttgctgtggg
2461 cttctgtctt ccactgttgc ggaagatact acttgacctg cagagaaccc acgaggatga
2521 gtctgtcaac aagctgcatc ccctgtactc ccgaggcgtg ctctccccag gtcgccacgt
2581 tcgaacgcgt ctctatttca ccagtgagag ccatgtccac tccctgctca gtgtcttccg
2641 ttatggagga cttcttgatg agacccagga tgcacaatgg cagcgagctt tggattatct
2701 tagtgccatc tcagagctta actacatgac ccagattgtc atcatgcttt atgaggacaa
2761 cacacaggat cccttatcag aggaacggtt ccatgtggag ctacacttca gccccggagt
2821 gaaaggtgtt gaggaagaag gcagtgcccc ggctggctgt ggattccgtc cagcctcttc
2881 tgagaatgag gagatgaaaa ccaaccaagg cagtatggag aacctgtgtc caggaaaggc
2941 atcagatgaa ccagaccggg cattgcagac ttcaccccag cctcctgagg gccctggcct
3001 tccgaggaga tcacccctca ttcgtaaccg aaaagctggt tccatggagg tactttctga
3061 gacttcatcc tcgaggcctg gtggctaccg gctcttttca tcttcacggc cacccacaga
3121 aatgaagcag agtggcctag gctcacagtg cacagggctg ttcagcacca cagtgctggg
3181 tggctcctcc agtgccccga atcttcagga ctacgcccgc agccatggca aaaagctacc
3241 acctgccagt ctgaagcacc gagatgagct cttgtttctc ccggccgtaa aacgattttc
3301 tgtgtcgttt gcaaagcatc cgactaacgg tgggtttgaa gggtgttcca tggtgcctac
3361 catctaccct ctggaaacac tgcataatgc cctttcccta cgtcaagtga gtgaattctt
3421 gagtagagtc tgccagcgcc acactgatgc ccaggcacag gcatctgcag ccctctttga
3481 ttccatgcac agcagccagg cctcagataa cccattttct ccaccacgta ctcttcattc
3541 acctcccctg caactccagc agcgctctga gaagccccct tggtacagca gtggcccttc
3601 tagcactgtg tccagtgctg gtccttcttc ccctactaca gtagatggta actcccaatt
3661 tggcttcagt gatcaaccct ccctaaattc acacgtggct gaagaacatc aaggccttgg
3721 gctgctccag gagacccctg ggagtggagc acaagagctc tccatagaag gggagcaaga
3781 gctttttgaa ccaaatcagt ccccacaggt gccacctatg gaaaccagcc agccatacga
3841 ggaggtcagc cagccatgtc aggaggtccc tgacatcagc cagccatgcc aggacatttc
3901 tgaggcgctc agccagccat gtcagaaggt ccctgacatc agccagcaat gccaggagaa
3961 ccatgacaat ggtaaccaca catgccagga ggtccctcac atcagccagc catgccagaa
4021 gtccagccaa ctgtgccaga aagtctctga ggaagtttgc cagctatgtc tggagaactc
4081 cgaggaggtc agccagccat gccagggggt ctctgtggag gttggcaagc tggtccataa
4141 gttccatgta ggggttggta gcttggtcca ggaaaccctt gtagaagttg gcagcccagc
4201 tgaagagatc cctgaggagg tcatccagcc ataccaggag ttctctgtgg aggttggcag
4261 gctggcccag gagacttctg cgatcaatct gttatctcag ggcatccctg agattgataa
4321 accatcccaa gagttccctg aggagattga tctgcaggcc caggaggtcc ctgaggagat
4381 aaattagaag tcctgggtgg tccctgaagt gattgatcag ctgcctggag agggtattcc
4441 tcaagcccag catccatctg gtgatccaaa ccctcagagc cagtctctag cccatgacca
4501 gcactcaccc cttccaccag caacatgtga ttaattttct cattagtggt atcacactat
4561 accagccatt tgagccagca accttttctg ttggctaact cactggccag ctctcaccag
4621 cggtgtctgg ggaagtagtt ctctttgtat gaagcatacc tgtgccagag ctgtggttga
4681 ggaggagcca gttttaggtt cgaagaagcc attggctcct cacttagcca ttagacttga
4741 ataggatttc cttggggtgg gttggtctgt cattacccag ccttctctga gcatcctagg
4801 aaatcacaga ttgttaaagg aaatgccgct tcactgctga agacaccatc tggcgacagc
4861 aaatgcaaaa gaggggactc tagggtcttc acttttctgg ggaaatgttc acgacttctc
4921 aaggtacgct tagaccatat gtgcattcag gggactcttg tctttgccag cactcctcag
4981 gtgagcccgg gatggctatc tgaaatgtct ggaaaataga gtcccttccc caaacatctg
5041 acatggccac taaatcttta gacttgcctt atagatcctt ccatatcatc cccaagtgcc
5101 ccttctgcct cagtcctgtt cctctgggca atagctctag ggaaaagtag gtattagact
5161 gctgtgcaaa attcagagca actacttaaa atgctctaga ggattcttag ccagtctgtg
5221 aaagtgggcc tcctctgtgg tggggctat
//