LOCUS AF543190 4522 bp mRNA linear HUM 15-OCT-2002 DEFINITION Homo sapiens KIAA0377 splice variant 4 mRNA, complete cds; alternatively spliced. ACCESSION AF543190 VERSION AF543190.1 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 4522) AUTHORS Avidan,N., Dgany,O., Cattan,D.C., 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with non-syndromic deafness and sperm motility disorder but not with congenital dyserythropoietic anemia type I JOURNAL Unpublished REFERENCE 2 (bases 1 to 4522) AUTHORS Avidan,N., Dgany,O., Cattan,D.C., Pariente,A., Thulliez,M., Borot,N., Moati,L., Alain,B., Krasnov,T., Olender,T.,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 (04-SEP-2002) Molecular Genetics, The Weizmann Institute of Science, Herzel Stree, Rehovot 76100, Israel FEATURES Location/Qualifiers source 1..4522 /db_xref="H-InvDB:HIT000081483" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /tissue_type="bone marrow" CDS 77..3661 /note="alternatively spliced" /codon_start=1 /product="KIAA0377 splice variant 4" /protein_id="AAN40768.1" /translation="MWSLTASEGESTTAHFFLGAGDEGLGTRGIGMRPEESDSELLED EEDEVPPEPQIIVGICAMTKKSKSKPMTQILERLCRFDYLTVVILGEDVILNEPVENW PSCHCLISFHSKGFPLDKAVAYSKLRNPFLINDLAMQYYIQDRREVYRILQEEGIDLP RYAVLNRDPARPEECNLIEGEDQVEVNGAVFPKPFVEKPVSAEDHNVYIYYPSSAGGG SQRLFRKIGSRSSVYSPESSVRKTGSYIYEEFMPTDGTDVKVYTVGPDYAHAEARKSP ALDGKVERDSEGKEIRYPVMLTAMEKLVARKVCVAFKQTVCGFDLLRANGHSFVCDVN GFSFVKNSMKYYDDCAKILGNTIMRELAPQFQIPWSIPTEAEDIPIVPTTSGTMMELR CVIAIIRHGDRTPKQKMKMEVKHPRFFALFQKHGGYKTGKLKLKRPEQLQEVLDITRL LLAELEKEPGGEIEEKTGKLEQLKSVLEMYGHSSGINRKVQLTYYPHGVKASNEGQDP QRETLAPSLLLVLKWGGELTPAGRVQAEELGRAFRCMYPGGQGDYAGFPGCGLLRLHS TFRHDLKIYASDEGRVQMTAAAFAKGLLALEGELTPILVQMVKSANMNGLLDSDGDSL SSCQHRVKARLHHILQQDAPFGPEDYDQLAPTRSTSLLNSMTIIQNPVKVCDQVFALI ENLTHQIRERMQDPRSVDLQLYHSETLELMLQRWSKLERDFRQKSGRYDISKIPDLYD CVKYDVQHNGSLGLQGTAELLRLSKALADVVIPQEYGISREEKLEIAAGFCLPLLRKI LLDLQRTHEDEYSRGVLSPGRHVRTRLYFTSESHVHSLLSVFRYGGLLDETQDADRAL QTSPQPPEGPGLPRRSPLIRNRKVGSMEVLSETSSSRPGGYRLFSSSRPPTEMKQSGL GSQCTGLFSTTVLGGSSSAPNPQDYARSHGKKLPPASLKHRDELLFVPAVKRFSVSFA KHPTNGFEGCSMVPTIYPLETLHNALSLRQVPPMETSQPYEEVSQPCQEVPDISQPCQ DISEALSQPCQKVPDISQQCQENMTNGNHTCQEVPHISQPCQKSSQLCQKVSEEVCQL CLENSEEVSQPCQGVSVEVGKLVHKFHVGVGSLVQETLVEVGSPAEEIPEEVIQPYQE FSVEVGRLAQETSAINLLSQGIPEIDKPSQEFPEEIDLQAQEVPEEIN" BASE COUNT 1098 a 1145 c 1205 g 1074 t ORIGIN 1 cctgaagtta atgtttcttg ctggccaaat cagggacatg ccggcattag cgggatgagt 61 gggtgttccg gcagggatgt ggtcattgac ggccagtgag ggcgagagta ccacggccca 121 cttcttcctt ggagctggag atgaggggct gggcacccgt ggaataggca tgaggccaga 181 agagagtgac agcgagctcc ttgaggatga ggaggatgaa gtgcctcctg aacctcagat 241 cattgttggc atctgtgcca tgaccaagaa atccaagtcc aagccaatga ctcaaatcct 301 agagcgactc tgcagatttg actacctgac tgttgtcatt ctgggagaag atgtaatcct 361 taatgaacct gtggaaaact ggccatcctg ccactgcctc atctctttcc actccaaagg 421 ctttcctctg gacaaagctg ttgcttactc caagcttcga aacccctttc ttatcaatga 481 tctggccatg cagtattaca tccaagatag gagggaggtg taccggatcc tgcaggaaga 541 gggtattgat ctgcctcgat atgctgtgct caaccgtgat cctgcccggc ctgaggaatg 601 caacctgata gaaggtgaag accaagtaga ggtcaatgga gctgtctttc ccaagccctt 661 tgtggagaag ccagtgagtg cagaagacca caatgtttac atctactacc ccagctcagc 721 tggaggagga agccagcgtc tctttcgtaa gattggcagc cgaagcagtg tttactctcc 781 tgagagcagc gtccgaaaga cggggtcgta catctatgag gagtttatgc caacagatgg 841 cacagatgtc aaggtgtata cagtggggcc agattatgcc catgctgaag ctagaaaatc 901 tccagctttg gatgggaagg ttgaacgaga cagtgagggg aaagagattc gatatccagt 961 catgctgact gccatggaaa agctggtggc caggaaagtc tgcgtagctt tcaagcaaac 1021 agtttgtgga tttgaccttc ttcgtgccaa tggtcattcc tttgtgtgtg atgtcaatgg 1081 ctttagtttt gtcaagaact cgatgaaata ctacgatgac tgtgccaaga ttctggggaa 1141 caccataatg cgggagcttg ccccacagtt ccagattcca tggtccatcc ccacggaggc 1201 tgaggacatt cccattgttc ccaccacatc tggcactatg atggaacttc gttgtgtcat 1261 tgcaattatt cgtcatgggg atcgtactcc caagcagaag atgaagatgg aagtgaaaca 1321 cccaaggttt tttgctctgt ttcaaaaaca tggtggctac aagacaggga aattaaaact 1381 caagcgacct gagcagctcc aggaggtgct ggatatcaca aggctgttgt tggctgaact 1441 ggagaaagaa ccaggtggtg agatcgagga gaagactgga aaactagagc agctgaagtc 1501 tgtactggag atgtatggtc actcctcagg tataaaccgg aaggtacaat tgacttacta 1561 ccctcatgga gtaaaagctt ctaatgaggg gcaagatcca cagagggaga ctctggcccc 1621 atctctgttg ctggtactga agtggggtgg agaactgact cctgctggcc gtgttcaggc 1681 tgaggagctg gggcgagctt ttcgctgcat gtaccctgga ggacagggtg actatgctgg 1741 cttccctggt tgtgggctgc ttcgtctcca tagcactttc cgccacgatc tcaagatcta 1801 tgcctctgat gagggtcgtg ttcagatgac tgctgctgcc ttcgccaagg gccttctggc 1861 tctagaaggg gagctgacac ccattttggt gcaaatggtg aagagtgcca acatgaatgg 1921 gctactggac agcgatgggg attccttgag cagctgccag caccgggtga aggctcggct 1981 gcaccatatt ctacagcagg atgcaccctt tggccctgag gactacgatc agctggctcc 2041 caccagaagt acttccctgc tcaactccat gactatcatc cagaatcctg tgaaggtctg 2101 tgatcaggta tttgccctga tcgaaaacct cactcaccag atccgggaac gaatgcagga 2161 ccccaggtct gtagacctgc agctctacca cagtgagaca ctagagctaa tgctacagcg 2221 ttggagcaag ctggagcgtg actttcgaca gaagagtggg cgctatgata tcagtaagat 2281 ccctgacctc tatgactgtg tcaagtatga tgtgcagcac aatgggagtc tgggacttca 2341 aggcacagca gagttgctcc gtctctctaa ggcactggct gatgtggtca ttccccagga 2401 gtacgggatc agtcgggagg agaaactgga aattgctgcg ggcttctgtc ttccactgtt 2461 gcggaagata ctacttgacc tgcagagaac ccacgaggat gagtactccc gaggcgtgct 2521 ctccccaggt cgccacgttc gaacgcgtct ctatttcacc agtgagagcc atgtccactc 2581 cctgctcagt gtcttccgtt atggaggact tcttgatgag acccaggatg cagaccgggc 2641 attgcagact tcaccccagc ctcctgaggg ccctggcctt ccgaggagat cacccctcat 2701 tcgtaaccga aaagttggtt ccatggaggt actttctgag acttcatcct cgaggcctgg 2761 tggctaccgg ctcttttcat cttcacggcc acccacagaa atgaagcaga gtggcctagg 2821 ctcacagtgc acagggctgt tcagcaccac agtgctgggt ggctcctcca gtgccccgaa 2881 tcctcaggac tacgcccgca gccatggcaa aaagctacca cctgccagtc tgaagcaccg 2941 agatgagctc ttgtttgtcc cggccgtaaa acgattttct gtgtcgtttg caaagcatcc 3001 gactaacggg tttgaagggt gttccatggt gcctaccatc taccctctgg aaacactgca 3061 taatgccctt tccctacgtc aagtgccacc tatggaaacc agccagccat acgaggaggt 3121 cagccagcca tgtcaggagg tccctgacat cagccagcca tgccaggaca tttctgaggc 3181 gctcagccag ccatgtcaga aggtccctga catcagccag caatgccagg agaacatgac 3241 caatggtaac cacacatgcc aggaggtccc tcacatcagc cagccatgcc agaagtccag 3301 ccaactgtgc cagaaagtct ctgaggaagt ttgccagcta tgtctggaga actccgagga 3361 ggtcagccag ccatgccagg gggtctctgt ggaggttggc aagctggtcc ataagttcca 3421 tgtaggggtt ggtagcttgg tccaggaaac ccttgtagaa gttggcagcc cagctgaaga 3481 gatccctgag gaggtcatcc agccatacca ggagttctct gtggaggttg gcaggctggc 3541 ccaggagact tctgcgatca atctgttatc tcagggcatc cctgagattg ataaaccatc 3601 ccaagagttc cctgaggaga ttgatctgca ggcccaggag gtccctgagg agataaatta 3661 gaagtcctgg gtggtccctg aagtgattga tcagctgcct ggagagggta ttcctcaagc 3721 ccagcatcca tctggtgatc caaaccctca gagccagtct ctagcccatg accagcactc 3781 accccttcca ccagcaacat gtgattaatt ttctcattag tggtatcaca ctataccagc 3841 catttgagcc agcaaccttt tctgttggct aactcactgg ccagctctca ccagcggtgt 3901 ctggggaagt agttctcttt gtatgaagca tacctgtgcc agagctgtgg ttgaggagga 3961 gccagtttta ggttcgaaga agccattggc tcctcactta gccattagac ttgaatagga 4021 tttccttggg gtgggttggt ctgtcattac ccagccttct ctgagcatcc taggaaatca 4081 cagattgtta aaggaaatgc cgcttcactg ctgaagacac catctggcga cagcaaatgc 4141 aaaagagggg actctagggt cttcactttt ctggggaaat gttcacgact tctcaaggta 4201 cgcttagacc atatgtgcat tcaggggact cttgtctttg ccagcactcc tcaggtgagc 4261 ccgggatggc tatctgaaat gtctggaaaa tagagtccct tccccaaaca tctgacatgg 4321 ccactaaatc tttagacttg ccttatagat ccttccatat catccccaag tgccccttct 4381 gcctcagtcc tgttcctctg ggcaatagct ctagggaaaa gtaggtatta gactgctgtg 4441 caaaattcag agcaactact taaaatgctc tagaggattc ttagccagtc tgtgaaagtg 4501 ggcctcctct gtggtggggc ta //