LOCUS Y18064 3628 bp mRNA linear HUM 07-OCT-2008 DEFINITION Homo sapiens mRNA for wolframin. ACCESSION Y18064 VERSION Y18064.1 KEYWORDS WFS1 gene; wolframin; wolframin gene. 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 3628) AUTHORS Strom T.M. JOURNAL Submitted (10-SEP-1998) to the INSDC. T.M. Strom, Abteilung Medizinische Genetik, Goethestr. 29, Muenchen, 80336, FRG REFERENCE 3 AUTHORS Strom T.M., Hoertnagel K., Hofmann S., Gekeler F., Scharfe C., Rabl W., Gerbitz K.D., Meitinger T. TITLE Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein JOURNAL Hum. Mol. Genet. 7(13), 2021-2028(1998). PUBMED 9817917 FEATURES Location/Qualifiers source 1..3628 /db_xref="H-InvDB:HIT000326067" /organism="Homo sapiens" /chromosome="4" /map="4p16.1" /mol_type="mRNA" /clone="BAC C0052I22 (SHGC)" /clone="BAC C0435P12 (SHGC)" /tissue_type="adult brain" /db_xref="taxon:9606" mRNA <1..>3628 /gene="WFS1" exon <1..157 /gene="WFS1" /number=1 exon 158..390 /gene="WFS1" /number=2 CDS 159..2831 /gene="WFS1" /product="wolframin" /db_xref="GOA:O76024" /db_xref="H-InvDB:HIT000326067.14" /db_xref="HGNC:HGNC:12762" /db_xref="InterPro:IPR011990" /db_xref="InterPro:IPR026208" /db_xref="InterPro:IPR026209" /db_xref="UniProtKB/Swiss-Prot:O76024" /protein_id="CAA77022.1" /translation="MDSNTAPLGPSCPQPPPAPQPQARSRLNATASLEQERSERPRAP GPQAGPGPGVRDAAAPAEPQAQHTRSRERADGTGPTKGDMEIPFEEVLERAKAGDPKA QTEVGKHYLQLAGDTDEELNSCTAVDWLVLAAKQGRREAVKLLRRCLADRRGITSENE REVRQLSSETDLERAVRKAALVMYWKLNPKKKKQVAVAELLENVGQVNEHDGGAQPGP VPKSLQKQRRMLERLVSSESKNYIALDDFVEITKKYAKGVIPSSLFLQDDEDDDELAG KSPEDLPLRLKVVKYPLHAIMEIKEYLIDMASRAGMHWLSTIIPTHHINALIFFFIIS NLTIDFFAFFIPLVIFYLSFISMVICTLKVFQDSKAWENFRTLTDLLLRFEPNLDVEQ AEVNFGWNHLEPYAHFLLSVFFVIFSFPIASKDCIPCSELAVITGFFTVTSYLSLSTH AEPYTRRALATEVTAGLLSLLPSMPLNWPYLKVLGQTFITVPVGHLVVLNVSVPCLLY VYLLYLFFRMAQLRNFKGTYCYLVPYLVCFMWCELSVVILLESTGLGLLRASIGYFLF LFALPILVAGLALVGVLQFARWFTSLELTKIAVTVAVCSVPLLLRWWTKASFSVVGMV KSLTRSSMVKLILVWLTAIVLFCWFYVYRSEGMKVYNSTLTWQQYGALCGPRAWKETN MARTQILCSHLEGHRVTWTGRFKYVRVTDIDNSAESAINMLPFFIGDWMRCLYGEAYP ACSPGNTSTAEEELCRLKLLAKHPCHIKKFDRYKFEITVGMPFSSGADGSRSREEDDV TKDIVLRASSEFKSVLLSLRQGSLIEFSTILEGRLGSKWPVFELKAISCLNCMAQLSP TRRHVKIEHDWRSTVHGAVKFAFDFFFFPFLSAA" exon 391..473 /gene="WFS1" /number=3 exon 474..618 /gene="WFS1" /number=4 exon 619..789 /gene="WFS1" /number=5 exon 790..870 /gene="WFS1" /number=6 exon 871..1019 /gene="WFS1" /number=7 exon 1020..>3628 /gene="WFS1" /number=8 regulatory 3603..3608 /gene="WFS1" /regulatory_class="polyA_signal_sequence" BASE COUNT 676 a 1172 c 1052 g 728 t ORIGIN 1 gcgctagccg gctcttcagc agcgagtgca gattgctccc ccgcggccgc agatctcccg 61 tttgcgccgc gttcagctgc tcccgaacaa cttttctgcc ggcccagagg ccccagggcg 121 tcgcagcgcc gcgtgcggcc cactcacggg ccggcaggat ggactccaac actgctccgc 181 tgggcccctc ctgcccacag cccccgccag caccgcagcc ccaggcgcgt tcccgactca 241 atgccacagc ctcgttggag caggagagga gcgaaaggcc ccgagcaccc ggaccccagg 301 ctggccctgg ccctggtgtt agagacgcag cggcccccgc tgaaccccag gcccagcata 361 ccaggagccg ggaaagagca gacggcaccg ggcctacaaa gggagacatg gaaatcccct 421 ttgaagaagt cctggagagg gccaaggccg gggaccccaa ggcacagact gaggtgggga 481 agcactacct gcagttggcc ggcgacacgg atgaagaact caacagctgc accgctgtgg 541 actggctggt cctcgccgcg aagcagggcc gtcgcgaggc tgtgaagctg cttcgccggt 601 gcttggcgga cagaagaggc atcacgtccg agaacgaacg ggaggtgagg cagctctcct 661 ccgagaccga cctggagagg gccgtgcgca aggcagccct ggtcatgtac tggaagctca 721 accccaagaa gaagaagcag gtggccgtgg cggagctgct ggagaatgtc ggccaggtca 781 acgagcacga tggaggggcg cagccaggcc ccgtgcccaa gtccctgcag aagcagaggc 841 ggatgctgga gcgcctggtc agcagcgagt ccaagaacta catcgcgctg gatgactttg 901 tggagatcac taagaagtac gccaagggcg tcatccccag cagcctgttc ctgcaggacg 961 acgaagatga tgacgagctg gcggggaaga gccctgagga cctgccactg cgtctgaagg 1021 tggtcaagta ccccctgcac gccatcatgg agatcaagga gtacctgatt gacatggcct 1081 ccagggcagg catgcactgg ctgtccacca tcatccccac gcaccacatc aacgcgctca 1141 tcttcttctt catcatcagc aacctcacca tcgacttctt cgccttcttc atcccgctgg 1201 tcatcttcta cctgtccttc atctccatgg tgatctgcac cctcaaggtg ttccaggaca 1261 gcaaggcctg ggagaacttc cgcaccctca ccgacctgct gctgcgcttc gagcccaacc 1321 tggatgtgga gcaggccgag gttaacttcg gctggaacca cctggagccc tatgcccatt 1381 tcctgctctc tgtcttcttc gtcatcttct ccttccccat cgccagcaag gactgcatcc 1441 cctgctcgga gctggctgtc atcaccggct tctttaccgt gaccagctac ctgagcctga 1501 gcacccatgc agagccctac acgcgcaggg ccctggccac cgaggtcacc gccggcctgc 1561 tatcgctgct gccctccatg cccttgaatt ggccctacct gaaggtcctt ggccagacct 1621 tcatcaccgt gcctgtcggc cacctggtcg tcctcaatgt cagcgtcccg tgcctgctct 1681 atgtctacct gctctatctc ttcttccgca tggcacagct gaggaatttc aagggcacct 1741 actgctacct tgtgccctac ctggtgtgct tcatgtggtg tgagctctcc gtggtcatcc 1801 tgctggagtc caccggcctg gggctgctcc gcgcctccat cggctacttc ctcttcctct 1861 ttgccctccc catcctggtg gccggcctgg ccctggtggg cgtgctgcag ttcgcccggt 1921 ggttcacgtc tctggagctc accaagatcg cagtcaccgt ggcggtctgt agtgtgcccc 1981 tgctgttgcg ctggtggacc aaggccagct tctctgtggt ggggatggtg aagtccctga 2041 cgcggagctc catggtcaag ctcatcctgg tgtggctcac ggccatcgtg ctgttctgct 2101 ggttctatgt gtaccgctca gagggcatga aggtctacaa ctccacactg acctggcagc 2161 agtatggtgc gctgtgcggg ccacgcgcct ggaaggagac caacatggcg cgcacccaga 2221 tcctctgcag ccacctggag ggccacaggg tcacgtggac cggccgcttc aagtacgtcc 2281 gcgtgactga catcgacaac agcgccgagt ctgccatcaa catgctcccg ttcttcatcg 2341 gcgactggat gcgctgcctc tacggcgagg cctaccctgc ctgcagccct ggcaacacct 2401 ccacggccga ggaggagctc tgtcgcctta agctgctggc caagcacccc tgccacatca 2461 agaagttcga ccgctacaag tttgagatta ccgtgggcat gccattcagc agcggcgctg 2521 acggctcgcg cagccgcgag gaggacgacg tcaccaagga catcgtgctg cgggccagca 2581 gcgagttcaa gagcgtgctg ctcagcctgc gccagggcag cctcatcgag ttcagcacca 2641 tcctggaggg ccgcctgggc agcaagtggc ctgtcttcga gctcaaggcc atcagctgcc 2701 tcaactgcat ggcccagctc tcacccacca ggcggcacgt gaagatcgag cacgactggc 2761 gcagcaccgt gcatggcgcc gtgaagttcg ccttcgactt ctttttcttc ccattcctgt 2821 cggcggcctg aggatggtcc gccacgagga gcttccagtg catgttgcca tgaggccttt 2881 ccccagtgtg gccccagccc gacaggcatg caccagtgcc gcctgtgccc acgtgtgcag 2941 actgtggctg cagagacctt gcgaccatgt gtagattgcg tggaccccga caaagggaag 3001 gctgctgtgt agctctgtcc actctgaata ccaagtgtgt tgggaattgc atgccatctc 3061 caccctgagc ctgacctttc tgagtgacat gggtgtgcca ggctagacta ggaggttccg 3121 gtgtctggaa aagcacttta cagatgagat tccctctcct cccccacctt caagcaccct 3181 gttccctctt tctttctttt gtgttggatt tgtttaaaaa ccaaataagc atctgtgtaa 3241 cctccacagt agcatttctt atttgtttgg tcactgctac accttagcag ctcttcccct 3301 ttcctggggg atgtgcacgg cagcttgagc ctgtcacgtg gtcaaggccc ggccccatca 3361 gaggctgggg gaggcggcac attggcagtg tgtcacactg agctgggcac cacaggctgc 3421 ctcatgaccc tcctgtccag caggtagtgg gtgaatgtgt gaaggtcttg cctgaatcca 3481 tcaggacttg ggaaacagag aaccctgtgg gggcggctgt gggggaggtc cctgccagtg 3541 tttagaagag cctgactgtg ttcagtgcct tggagcagaa agccagggtc ctgagtggct 3601 gaaataaaag cctctggtgg aacctgca //