LOCUS AF502588 5183 bp mRNA linear HUM 24-JAN-2014 DEFINITION Homo sapiens KIAA0377 splice variant 3 mRNA, complete cds, alternatively spliced. ACCESSION AF502588 VERSION AF502588.1 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 5183) 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with non-syndromic deafness and sperm motility disorder but not with congenital dyserythropoietic anemia type I JOURNAL Unpublished REFERENCE 2 (bases 1 to 5183) AUTHORS Avidan,N., Dgany,O., Cattan,D., Pariente,A., Thulliez,M., Borot,N., Moati,L., Alain,B., Krasnov,T., Olender,T.,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..5183 /db_xref="H-InvDB:HIT000080949" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /tissue_type="testis" CDS 95..4321 /note="alternatively spliced" /codon_start=1 /product="KIAA0377 splice variant 3" /protein_id="AAP30844.1" /translation="MWSLTASEGESTTAHFFLGAGDEGLGTRGIGMRPEESDSELLED EEDEVPPEPQIIVGICAMTKKSKSKPMTQILERLCRFDYLTVVILGEDVILNEPVENW PSCHCLISFHSKGFPLDKAVAYSKLRNPFLINDLAMQYYIQDRREVYRILQEEGIDLP RYAVLNRDPARPEECNLIEGEDQVEVNGAVFPKPFVEKPVSAEDHNVYIYYPSSAGGG SQRLFRKIGSRSSVYSPESSVRKTGSYIYEEFMPTDGTDVKVYTVGPDYAHAEARKSP ALDGKVERDSEGKEIRYPVMLTAMEKLVARKVCVAFKQTVCGFDLLRANGHSFVCDVN GFSFVKNSMKYYDDCAKILGNTIMRELAPQFQIPWSIPTEAEDIPIVPTTSGTMMELR CVIAIIRHGDRTPKQKMKMEVKHPRFFALFEKHGGYKTGKLKLKRPEQLQEVLDITRL LLAELEKEPGGEIEEKTGKLEQLKSVLEMYGHFSGINRKVQLTYYPHGVKASNEGQDP QRETLAPSLLLVLKWGGELTPAGRVQAEELGRAFRCMYPGGQGDYAGFPGCGLLRLHS TFRHDLKIYASDEGRVQMTAAAFAKGLLALEGELTPILVQMVKSANMNGLLDSDGDSL SSCQHRVKARLHHILQQDAPFGPEDYDQLAPTRSTSLLNSMTIIQNPVKVCDQVFALI ENLTHQIRERMQDPRSVDLQLYHSETLELMLQRWSKLERDFRQKSGRYDISKIPDIYD CVKYDVQHNGSLGLQGTAELLRLSKALADVVIPQEYGISREEKLEIAVGFCLPLLRKI LLDLQRTHEDESVNKLHPLYSRGVLSPGRHVRTRLYFTSESHVHSLLSVFRYGGLLDE TQDAQWQRALDYLSAISELNYMTQIVIMLYEDNTQDPLSEERFHVELHFSPGVKGVEE EGSAPAGCGFRPASSENEEMKTNQGSMENLCPGKASDEPDRALQTSPQPPEGPGLPRR SPLIRNRKAGSMEVLSETSSSRPGGYRLFSSSRPPTEMKQSGLGSQCTGLFSTTVLGG SSSAPNLQDYARSHGKKLPPASLKHRDGFEGCSMVPTIYPLETLHNALSLRQVSEFLS RVCQRHTDAQAQASAALFDSMHSSQASDNPFSPPRTLHSPPLQLQQRSEKPPWYSSGP SSTVSSAGPSSPTTVDGNSQFGFSDQPSLNSHVAEEHQGLGLLQETPGSGAQELSIEG EQELFEPNQSPQVPPMETSQPYEEVSQPCQEVPDISQPCQDISEALSQPCQKVPDISQ QCQENHDNGNHTCQEVPHISQPCQKSSQLCQKVSEEVCQLCLENSEEVSQPCQGVSVE VGKLVHKFHVGVGSLVQETLVEVGSPAEEIPEEVIQPYQEFSVEVGRLAQETSAINLL SQGIPEIDKPSQEFPEEIDLQAQEVPEEIN" BASE COUNT 1267 a 1333 c 1362 g 1221 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 gagatgggtt tgaagggtgt tccatggtgc ctaccatcta 3301 ccctctggaa acactgcata atgccctttc cctacgtcaa gtgagtgaat tcttgagtag 3361 agtctgccag cgccacactg atgcccaggc acaggcatct gcagccctct ttgattccat 3421 gcacagcagc caggcctcag ataacccatt ttctccacca cgtactcttc attcacctcc 3481 cctgcaactc cagcagcgct ctgagaagcc cccttggtac agcagtggcc cttctagcac 3541 tgtgtccagt gctggtcctt cttcccctac tacagtagat ggtaactccc aatttggctt 3601 cagtgatcaa ccctccctaa attcacacgt ggctgaagaa catcaaggcc ttgggctgct 3661 ccaggagacc cctgggagtg gagcacaaga gctctccata gaaggggagc aagagctttt 3721 tgaaccaaat cagtccccac aggtgccacc tatggaaacc agccagccat acgaggaggt 3781 cagccagcca tgtcaggagg tccctgacat cagccagcca tgccaggaca tttctgaggc 3841 gctcagccag ccatgtcaga aggtccctga catcagccag caatgccagg agaaccatga 3901 caatggtaac cacacatgcc aggaggtccc tcacatcagc cagccatgcc agaagtccag 3961 ccaactgtgc cagaaagtct ctgaggaagt ttgccagcta tgtctggaga actccgagga 4021 ggtcagccag ccatgccagg gggtctctgt ggaggttggc aagctggtcc ataagttcca 4081 tgtaggggtt ggtagcttgg tccaggaaac ccttgtagaa gttggcagcc cagctgaaga 4141 gatccctgag gaggtcatcc agccatacca ggagttctct gtggaggttg gcaggctggc 4201 ccaggagact tctgcgatca atctgttatc tcagggcatc cctgagattg ataaaccatc 4261 ccaagagttc cctgaggaga ttgatctgca ggcccaggag gtccctgagg agataaatta 4321 gaagtcctgg gtggtccctg aagtgattga tcagctgcct ggagagggta ttcctcaagc 4381 ccagcatcca tctggtgatc caaaccctca gagccagtct ctagcccatg accagcactc 4441 accccttcca ccagcaacat gtgattaatt ttctcattag tggtatcaca ctataccagc 4501 catttgagcc agcaaccttt tctgttggct aactcactgg ccagctctca ccagcggtgt 4561 ctggggaagt agttctcttt gtatgaagca tacctgtgcc agagctgtgg ttgaggagga 4621 gccagtttta ggttcgaaga agccattggc tcctcactta gccattagac ttgaatagga 4681 tttccttggg gtgggttggt ctgtcattac ccagccttct ctgagcatcc taggaaatca 4741 cagattgtta aaggaaatgc cgcttcactg ctgaagacac catctggcga cagcaaatgc 4801 aaaagagggg actctagggt cttcactttt ctggggaaat gttcacgact tctcaaggta 4861 cgcttagacc atatgtgcat tcaggggact cttgtctttg ccagcactcc tcaggtgagc 4921 ccgggatggc tatctgaaat gtctggaaaa tagagtccct tccccaaaca tctgacatgg 4981 ccactaaatc tttagacttg ccttatagat ccttccatat catccccaag tgccccttct 5041 gcctcagtcc tgttcctctg ggcaatagct ctagggaaaa gtaggtatta gactgctgtg 5101 caaaattcag agcaactact taaaatgctc tagaggattc ttagccagtc tgtgaaagtg 5161 ggcctcctct gtggtggggc tat //