LOCUS Y15909 9347 bp mRNA linear HUM 07-OCT-2008 DEFINITION Homo sapiens mRNA for dia-156 protein. ACCESSION Y15909 VERSION Y15909.1 KEYWORDS DIA-156 protein; diaphanous gene. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 AUTHORS Bione S., Sala C., Manzini C., Arrigo G., Zuffardi O., Banfi S., Borsani G., Jonveaux P., Philippe C., Zuccotti M., Ballabio A., Toniolo D. TITLE A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility JOURNAL Am. J. Hum. Genet. 62(3), 533-541(1998). PUBMED 9497258 REFERENCE 2 (bases 1 to 9347) AUTHORS Toniolo D. JOURNAL Submitted (15-DEC-1997) to the INSDC. D. Toniolo, Instituto di Genetica Biochimica ed Evoluzionistica CNR, Via Abbiategrasso 207, 27100 Pavia, ITALY FEATURES Location/Qualifiers source 1..9347 /db_xref="H-InvDB:HIT000325911" /organism="Homo sapiens" /chromosome="X" /map="q21" /mol_type="mRNA" /db_xref="taxon:9606" CDS 351..3656 /gene="diaphanous (forms a and b)" /product="DIA-156 protein" /db_xref="GOA:O60879" /db_xref="H-InvDB:HIT000325911.15" /db_xref="HGNC:HGNC:2877" /db_xref="InterPro:IPR010465" /db_xref="InterPro:IPR010472" /db_xref="InterPro:IPR010473" /db_xref="InterPro:IPR011989" /db_xref="InterPro:IPR014767" /db_xref="InterPro:IPR014768" /db_xref="InterPro:IPR015425" /db_xref="InterPro:IPR016024" /db_xref="InterPro:IPR027644" /db_xref="InterPro:IPR042201" /db_xref="UniProtKB/Swiss-Prot:O60879" /protein_id="CAA75870.1" /translation="MEQPGAAASGAGGGSEEPGGGRSNKRSAGNRAANEEETKNKPKL NIQIKTLADDVRDRITSFRKSTVKKEKPLIQHPIDSQVAMSEFPAAQPLYDERSLNLS EKEVLDLFEKMMEDMNLNEEKKAPLRNKDFTTKREMVVQYISATAKSGGLKNSKHECT LSSQEYVHELRSGISDEKLLNCLESLRVSLTSNPVSWVNNFGHEGLGLLLDELEKLLD KKQQENIDKKNQYKLIQCLKAFMNNKFGLQRILGDERSLLLLARAIDPKQPNMMTEIV KILSAICIVGEENILDKLLGAITTAAERNNRERFSPIVEGLENQEALQLQVACMQFIN ALVTSPYELDFRIHLRNEFLRSGLKTMLPDLKEKENDELDIQLKVFDENKEDDLTELS HRLNDIRAEMDDMNEVYHLLYNMLKDTAAENYFLSILQHFLLIRNDYYIRPQYYKIIE ECVSQIVLHCSGMDPDFKYRQRLDIDLTHLIDSCVNKAKVEESEQKAAEFSKKFDEEF TARQEAQAELQKRDEKIKELEAEIQQLRTQAQVLSSSSGIPGPPAAPPLPGVGPPPPP PAPPLPGGAPLPPPPPPLPGMMGIPPPPPPPLLFGGPPPPPPLGGVPPPPGISLNLPY GMKQKKMYKPEVSMKRINWSKIEPTELSENCFWLRVKEDKFENPDLFAKLALNFATQI KVQKNAEALEEKKTGPTKKKVKELRILDPKTAQNLSIFLGSYRMPYEDIRNVILEVNE DMLSEALIQNLVKHLPEQKILNELAELKNEYDDLCEPEQFGVVMSSVKMLQPRLSSIL FKLTFEEHINNIKPSIIAVTLACEELKKSESFNRLLELVLLVGNYMNSGSRNAQSLGF KINFLCKIRDTKSADQKTTLLHFIADICEEKYRDILKFPEELEHVESASKVSAQILKS NLASMEQQIVHLERDIKKFPQAENQHDKFVEKMTSFTKTAREQYEKLSTMHNNMMKLY ENLGEYFIFDSKTVSIEEFFGDLNNFRTLFLEAVRENNKRREMEEKTRRAKLAKEKAE QEKLERQKKKKQLIDINKEGDETGVMDNLLEALQSGAAFRDRRKRIPRNPDNRRVPLE RSRSRHNGAISSK" regulatory 4922..4927 /regulatory_class="polyA_signal_sequence" regulatory 9328..9333 /regulatory_class="polyA_signal_sequence" BASE COUNT 2916 a 1922 c 1763 g 2732 t ORIGIN 1 gcggggcact ttgaagaatc acgtgtgttg aggccctctt aaagagatag gcacctactt 61 ttccctccac cctaaacacc gccctgaggg cggcggcgac cgtggtaatt gcaactgctc 121 aggggcaggg cttgccccag cgccgagtag tggcaacggc gtggttgcgt cgggggtgcc 181 tgggagcctg gagtcccggg ggcctgaaat cggcagcttc ccgggcagac actctctccc 241 tcaggaagag gtgccgccga gtcagcgcgg ggcagtgtga gcgccccgag gtgctttctc 301 agttgaggag aggtggggtt acagggcaca ggtgacaggg ccggagaaag atggagcagc 361 ccggggcggc ggcgtcggga gcgggaggcg gcagcgagga acccggtggg ggccggagca 421 acaagcggag cgcggggaac cgggccgcca atgaagagga aacgaaaaac aaacccaaat 481 tgaacattca aataaaaact ttggcagatg atgtgcgtga ccgaattaca agttttagaa 541 aatctactgt caaaaaagaa aaacctctta ttcaacatcc tattgattct caagtcgcga 601 tgagtgagtt tcctgcagct cagccattat atgatgaacg atctttgaat ttgtcagaaa 661 aggaagtatt ggatctcttt gaaaaaatga tggaggacat gaaccttaac gaagagaaaa 721 aagctccttt acgaaacaaa gactttacca ccaaacgtga gatggttgtc cagtatattt 781 ctgccactgc caaatctggt gggctgaaaa acagcaaaca tgaatgcacc ctgtcttcac 841 aagaatatgt tcatgaatta cgatcgggta tatcagatga gaaacttctt aattgcctag 901 aatccctcag ggtttcttta accagcaatc cggtcagctg ggttaacaac tttggccatg 961 aaggtcttgg actcttattg gatgagctgg aaaagcttct ggacaaaaaa cagcaagaaa 1021 atattgacaa gaagaatcag tataaactta ttcaatgcct caaagcattt atgaataata 1081 agtttggatt acaaaggatt ctaggagatg aaagaagtct tttactattg gcaagagcaa 1141 ttgaccccaa acaacccaac atgatgactg aaatagtaaa aatactttct gctatttgca 1201 ttgttggaga agagaacatt ctagataaac ttttaggggc tataacaaca gcagcagaaa 1261 gaaataacag ggaacgattt tcaccaattg tggaaggttt agaaaatcag gaagccttgc 1321 aattacaggt ggcctgcatg cagtttataa atgcccttgt cacttctcct tatgagcttg 1381 attttcgaat acatttaagg aatgaattcc tccgttcagg actaaaaaca atgttaccag 1441 atctaaaaga aaaagagaat gatgagcttg atattcagtt gaaagtattt gatgaaaaca 1501 aagaagatga cctaactgaa ttatcacacc gtctcaatga cattcgagca gaaatggatg 1561 atatgaatga agtctaccat cttctatata atatgctgaa ggacactgct gctgaaaatt 1621 acttcttatc tattctacaa cattttttgc ttatcagaaa tgattattat atcaggccac 1681 aatattataa aataattgag gaatgtgttt cacagatagt gctacactgc agtggtatgg 1741 atccagactt caaatacagg caaagattag acatcgattt aactcatctg atagattctt 1801 gtgtgaacaa ggcgaaagtt gaagaaagtg aacaaaaagc tgcagagttt tcaaagaagt 1861 tcgatgaaga attcacagct cgacaggaag ctcaagcaga gcttcaaaaa agagatgaga 1921 aaatcaaaga acttgaagca gaaatccagc aacttcgaac ccaggcacaa gtactctcaa 1981 gttcatcagg aattccaggt cctcctgcag cacctccatt gccaggtgta gggccgcctc 2041 caccaccacc cgcgccacct ctacccggag gagctcctct tcctcctcca ccacctcctt 2101 tacctggaat gatggggata ccaccaccac ccccaccacc acttttattt gggggacctc 2161 ctccaccacc accccttgga ggagttcctc ctcccccagg aatatcactt aatctacctt 2221 atggaatgaa gcagaaaaaa atgtataaac ctgaagtgtc catgaagaga atcaattggt 2281 caaagattga acccacagaa ttatctgaga actgtttctg gttaagagtc aaagaagaca 2341 agtttgagaa tccagatctc tttgccaaat tggcattgaa ttttgctact cagataaaag 2401 ttcaaaagaa cgcagaagca ttagaagaaa agaagactgg gcctacaaag aagaaagtga 2461 aagaactgag aattttggat cccaaaacag ctcagaatct gtccatcttt ctgggatcat 2521 atcgcatgcc atatgaagac ataagaaacg ttattctgga ggttaatgaa gacatgctga 2581 gtgaggcttt aattcagaac cttgtgaaac atcttcctga gcagaagata ctcaacgaat 2641 tagcagagct taagaatgaa tatgatgacc tctgtgagcc tgaacaattt ggagttgtga 2701 tgagctctgt gaaaatgtta cagcctcgtc tcagtagtat cctgttcaag ctcacatttg 2761 aagaacacat aaacaacatc aaaccaagca tcatagcagt aactcttgcc tgtgaagaac 2821 tgaagaaaag tgaaagcttt aacagacttt tagagttagt tcttcttgtt ggaaactaca 2881 tgaactcagg ctcaagaaat gcccagtctt tgggatttaa gatcaacttc ctttgtaaga 2941 tcagagatac taaatcagcg gatcaaaaaa caaccctttt gcattttatt gccgacattt 3001 gtgaggaaaa atatcgagat atcctaaaat ttcctgaaga actggaacac gtagaaagtg 3061 caagcaaagt ttcagctcaa attctcaaga gcaaccttgc atcaatggaa caacaaattg 3121 ttcatctgga acgtgacatc aagaaattcc cccaagcaga aaatcaacac gataagtttg 3181 tggaaaagat gaccagcttt acaaagactg cccgagaaca gtatgaaaaa ctctccacca 3241 tgcacaacaa catgatgaag ctctatgaga atcttggaga atacttcatt tttgactcaa 3301 agacagtgag catagaagag ttctttggtg atctcaacaa cttccgaact ttgtttttgg 3361 aagcagtgag agaaaacaat aagagaagag aaatggaaga gaagaccagg agggcaaaac 3421 ttgcaaaaga gaaagctgaa caagaaaagt tagaacgcca gaagaaaaag aaacaactca 3481 ttgatataaa caaagagggt gatgagactg gtgtgatgga taatcttcta gaagccctac 3541 aatcaggtgc agcattcaga gaccgtcgaa agcggattcc aaggaatcca gataacagac 3601 gagtaccttt ggaaaggtca cgctctcgcc acaatggagc tatctcatct aagtgattcc 3661 tgatgccaaa gaatatgaaa atatttaagt aaaaacaaaa tgatgcattt tgagaagaac 3721 aaagtgtgca ctcagcggct ggaaaggaaa taagtgcatt tctgcaaaga tcaagataag 3781 ctggatgaag tagtgtgcat ttgtaatact attgcaagac tcctcccaca attattctaa 3841 tctgaacaca gttatcagga ttacaaaatg tgttccattt tagtgtaaag atgtgtatca 3901 tttgtaattg tgtgtgacct gactgtgatg atggaagtgt aagaaattga agagttctaa 3961 ggctttcaaa aacactcagt ccaaaaattt aaaatcttaa atgtgtaagt cacccccccc 4021 aaaaacaaaa gagaagaaaa agaatagaaa gaattatcca gtgtcagctt ccaatcccta 4081 gtacatatat aatagaaaag ggccaagaaa aatatgcatc ttgatttgga gagaggctaa 4141 tattatgcac actgtaagag aagccatttt ggaaattcac gaaagtactg ctccacccca 4201 gttgagttat ttaggaattt tatctcaagt gaaagctgat ggattcatct gctttggctg 4261 aaattaaact tatcattagt ctagctagca tttcagcatg atattgcaag cacttctcat 4321 tgctaaaaat aaataaacca aagtttaacc gaatcagtta gggaaagtga tttaaacttt 4381 atttaaagag gtattttcta attatgcaca gatatctact ttatacaaat actttatatg 4441 gctatttttg agaaaaccct cacattttaa tgtttatgct agggatgaac ctggaaaatt 4501 ctattacgtt tatttagatt tcaaaggcaa atattgattc ctatgctctg tggtttattt 4561 cttttttcta ttgcttcttt ctcccttgag tcccttgaag gcagggaaat agacttctag 4621 aaaacctgag aggaaaaaga attcttttta caggaggcag cagaaaactg tctgaaaggt 4681 caattgtttt atctcccttt ccactctctt tccaatttca ctttggtggt ctgaagaaga 4741 aaaagaaatt ttatgtatgt atgtgtaaat atgtgtatat atttctatct cttgctacaa 4801 taattccaac taagtgaact tcttctcaat tatcatcata cttacttacc ttatattaac 4861 aaattaagat gatgctgcca aaacaagtct agcagggaaa acaggttcta catttttctt 4921 aaataaatta gggagtaaaa gttatactta acttgtctgt ctattatttt aaaatatgca 4981 ttgaaataat gtggtataac ttctctggag tgcaatttta agtctaattc atgcagatga 5041 ttgattgtga ttattgtaag aaatttcnta catgtatatt tcttatgtta gaaaatactg 5101 tttctactca ttcaaagcac attgtagata ttcagagaga agaacaaatg gctggcttgg 5161 caaatcccca tctgagataa agtaaacaag tgaccagcag cccacagata attcctttat 5221 atagatgtat aatgattcaa actgctgcct ttgcctccag tgcatcctta cttaggtatt 5281 atacttcttt aaaaagctct gaagctgcta caatagaaaa atcaaaaagg gtaacagtat 5341 ctgaaatttc acagtcctat ccgatctgaa aacacacata cacaaatgca cacacatgca 5401 cacacacatt tcagggacat agcagtaaca ctgtttttta acaacaacaa aagtttaggt 5461 tctaatttat gtaaatacct agtatgtgta tttttgactt tacaaagtct ttcttttctg 5521 aaatcttcgt ggtatggctt ttttaattct tttgacagct tatcagtctg taggagaatg 5581 atcttgaaat gttnaccctg actaaaattt gggagcatat gccttgctat attatcaagc 5641 tggtcaaggt agaaatactg atatgtatca tcaccttttc cagatacaaa cttgccttat 5701 tttctagttn gtgaacaaga acgaatgaag tactattatt gataacttac ttatatattt 5761 ttatttagag caatcccaca tgcttttcac aaacattaaa aaaaaaaacc tttcagggtc 5821 tttcatgaag ttccaatagt tgagtgagtt aaaaggtttg tttcccagat ttgtaatggt 5881 cctgctctag ccatttgcag ttttgtttta gatgattgga aagtatatca ccaaaaaaag 5941 tatatagtga catttttagt atgaaaccaa attacactaa ggtcttttgt tggccatatt 6001 actgccacac atgagaagca ccatttatgc agattttctt cagaatattt ttaaaaggta 6061 cagaatcctt aaaatattaa caactaattg catccattat ctcctttggc tgctgtaaca 6121 aattaccacc aataatatga tggcttaaca caacagaaac ttatttgctt acatttttga 6181 agggcagcaa agccatggct ccctccagag gctcnagagg agaatctttc cttgccacgt 6241 ccaccttttg gtggcnattg gcattttttg gcttatggcc acatttctct ttctgctgtg 6301 tcttcacatc accctcctct gtatacctaa tctgcctctg cctctgttta ataaggatcc 6361 ttatgatgac ttttagggac tacccagatt actccaggat aatctcctca cctcatgagt 6421 cttaactnaa ttanatctgc aaggccccct tctccaaata agataaattc atggttttgg 6481 ggattaggat gtggctatgt cttttaggaa gccactctta gcccaccaga gtctgccctt 6541 tggcccaaaa tttatgtctg tctcatgtgt aaaagacatt catcccatcc taacattacc 6601 aaaagtctca acccattata tcaatcctaa gtccaaaatt tcattcaaat atnatcggtt 6661 caaaagttcc aaagctnatc atttagatca tctaaatcag gtatgagtga aactctgggt 6721 atggtctttc ctgaggccaa atcctcttcc tctgagaacc agtgaaacag aaaagttaat 6781 ctgctttcaa attacaatgg tgggaacagg cataggataa cagttacaga catttctgtc 6841 tcaaaaagga gagaatggaa attggaatgg agtctcctgt cccaatcatt ttcaaaatct 6901 agccaggcaa atttctgttc tatttcaagg cctggcagta atcctctttc tcagggctcc 6961 accctttggg cctgtagctc ttctttcttg gactatggat tgggcctctg cctctgtgcc 7021 tatgggttgc acttcttcct ctgttcccac acttgggcct ctgcctctgt acctgcagct 7081 ctgctctcgg gatggtgctt cctttatctt gaagggtggc acatgtttgc agctgagaag 7141 ttttatcaac gggtttccta cctgtagaat tctggcagtc tcacaatctt ctttcatttt 7201 tttctgtctc tgtccctttt aggcccagtt ggaantgttt ctgatggtag aacattctca 7261 aaaatcttgt gggtcttcta cgtatgtcac attgattcac acattcagaa aagagggtcc 7321 tcacagattt ttcctgaaca accccatctc tattcttggc ttctgttgaa acagtcaaat 7381 aaatccacaa gttaatgcct aacctcttca gcactagcca aaggttgtca agacacaccc 7441 ttgggcttat ctacagagca cacttttcta acagtgaatc tcctaatttt agcatctttt 7501 tttttttttt tacaatcatt ccagattgtg aattcnaggc tcagaattac ccagtcatca 7561 gatactgatt ccttttgtcc acttatatag ttattttctc tttaaaaaaa aatttttttt 7621 aatgtattag agatgaggtc tcactctgtc acccaggctg cagtgtagtg gtgcaaacat 7681 agctccctgt aacctcaaac tcccaggctc aagggatcct cctgcatcag ccttccaagt 7741 agctgggtct acaggtgcat accaccatgc ctggctaatt ttttgcattt ttttgtagag 7801 acttgatctt gctatgttgt ccaggctgct ctcgaactcc tagcctcaag caatccaccc 7861 atcttggcct cctaaagtgc cggattacag gtgtaagcca ccatgcccag cctgttttgt 7921 caatgtatct gtttnctgtc ttattttact ataagcacta agaagaaact aagctatatc 7981 tctaacacta gacttgaaaa tttcctcagc taaacatcca agttcatcat ttattcaact 8041 tttcacacta ctgtagtaga caatttagat agataaactt tttgccacta tatgacaagg 8101 attccctttc ttccattttc caataaaatc ttcatttcct tctaaaccat cactagaaat 8161 gcctttaaca ttcatactac taccatctgg taaaggcaat ctagtttttt ctatcacatc 8221 caccaaaatt cttctagtct ctacccatta tccaattcca aagccttttt cacattttaa 8281 gacatttgtt acagaagtac ccaatccgtc ccagttccac aatctgcatt agattcccat 8341 ggctgctgta acaaattacc ctctagccca gtggcttaaa acaatanaaa tttattatct 8401 tgttgttttg gaggccaaaa gtccaaaatt gaggggttgg cagggctgaa cgtcttctgg 8461 agactctaag ggaaacactc ttcccgtgtc ttccagtttc ttgtggctgc catcattcct 8521 tggtttgtga ctgcatctcc ctctcctctg tcttcacatc acttcccctc tgtatatata 8581 atctacctct gcctctctct tataaggaca cttgtgacgg gacttagggc ccatccagat 8641 tacccatgat cattccctta ttccaagatt cttaattata tctgaaagga ccttttttcc 8701 aaataaggta ctatcacagg ttccagggag ttaggatatt gaatatcttt attggggagg 8761 gggcaccatg cagctcacta cactattcat tgcacacaaa tgaatttttc actttttaag 8821 atgcattctt ggtgctcaaa ccagatcgaa gtttgtctct naaagctatt gtctgcacag 8881 gctgctgcat gctctgttgt taaatggatg gacaggctat tctaaatttt ggttgatact 8941 tttgctacta tgggcaatta acttgaaaaa aataatcgat cccaactctg tgctctgatg 9001 tacctcttct gcccctttta tgacaccttt gaccaaatgc cttctatggt tcacagtgca 9061 ggcacaaaac tacctctgat acagaaggtt ctttacaagc ttattttaca taccgtgaat 9121 ccctcaccta aagggagagg tgaaagcaaa gactgctttg aatgggtatt gagggagatt 9181 gtgtccatac caagccaccc tgaagaagta tttcacttgc agtagaactg tggatttgtg 9241 ctgtcatttc accttggaat aaacacctat ctctaagcag gaccaagaat gacttgcaat 9301 ctatatgtaa tggctactta cttattcaat aaagttaaga tatacgt //