LOCUS AF030880 4930 bp mRNA linear HUM 01-DEC-1997
DEFINITION Homo sapiens pendrin (PDS) mRNA, complete cds.
ACCESSION AF030880
VERSION AF030880.1
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 4930)
AUTHORS Everett,L.A., Glaser,B., Beck,J.C., Idol,J.R., Buchs,A., Heyman,M.,
Adawi,F., Hazani,E., Nassir,E., Baxevanis,A.D., Sheffield,V.S. and
Green,E.D.
TITLE Pendred syndrome is caused by mutations in a putative sulphate
transporter gene (PDS)
JOURNAL Nat. Genet. 17 (4), 411-422 (1997)
PUBMED 9398842
REFERENCE 2 (bases 1 to 4930)
AUTHORS Everett,L.A., Glaser,B., Beck,J.C., Idol,J.R., Buchs,A., Heyman,M.,
Adawi,F., Hazani,E., Nassir,E., Baxevanis,A.D., Sheffield,V.S. and
Green,E.D.
TITLE Direct Submission
JOURNAL Submitted (21-OCT-1997) Genome Technology Branch, National Human
Genome Research Institute, National Institutes of Health, 49
Convent Drive, Bethesda, MD 20892, USA
FEATURES Location/Qualifiers
source 1..4930
/db_xref="H-InvDB:HIT000063045"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="7"
/map="7q22-q31.1"
gene 1..4930
/gene="PDS"
CDS 225..2567
/gene="PDS"
/function="putative sulfate transporter"
/note="mutated in Pendred syndrome"
/codon_start=1
/product="pendrin"
/protein_id="AAC51873.1"
/translation="MAAPGGRSEPPQLPEYSCSYMVSRPVYSELAFQQQHERRLQERK
TLRESLAKCCSCSRKRAFGVLKTLVPILEWLPKYRVKEWLLSDVISGVSTGLVATLQG
MAYALLAAVPVGYGLYSAFFPILTYFIFGTSRHISVGPFPVVSLMVGSVVLSMAPDEH
FLVSSSNGTVLNTTMIDTAARDTARVLIASALTLLVGIIQLIFGGLQIGFIVRYLADP
LVGGFTTAAAFQVLVSQLKIVLNVSTKNYNGVLSIIYTLVEIFQNIGDTNLADFTAGL
LTIVVCMAVKELNDRFRHKIPVPIPIEVIVTIIATAISYGANLEKNYNAGIVKSIPRG
FLPPELPPVSLFSEMLAASFSIAVVAYAIAVSVGKVYATKYDYTIDGNQEFIAFGISN
IFSGFFSCFVATTALSRTAVQESTGGKTQVAGIISAAIVMIAILALGKLLEPLQKSVL
AAVVIANLKGMFMQLCDIPRLWRQNKIDAVIWVFTCIVSIILGLDLGLLAGLIFGLLT
VVLRVQFPSWNGLGSIPSTDIYKSTKNYKNIEEPQGVKILRFSSPIFYGNVDGFKKCI
KSTVGFDAIRVYNKRLKALRKIQKLIKSGQLRATKNGIISDAVSTNNAFEPDEDIEDL
EELDIPTKEIEIQVDWNSELPVKVNVPKVPIHSLVLDCGAISFLDVVGVRSLRVIVKE
FQRIDVNVYFASLQDYVIEKLEQCGFFDDNIRKDTFFLTVHDAILYLQNQVKSQEGQG
SILETITLIQDCKDTLELIETELTEEELDVQDEAMRTLAS"
BASE COUNT 1454 a 937 c 1082 g 1457 t
ORIGIN
1 ctcagccttc ccggttcggg aaaggggaag aatgcaggag gggtaggatt tctttcctga
61 taggatcggt tgggaaagac cgcagcctgt gtgtgtcttt cccttcgacc aaggtgtctg
121 ttgctccgta aataaaacgt cccactgcct tctgagagcg ctataaaggc agcggaaggg
181 tagtccgcgg ggcattccgg gcggggcgcg agcagagaca ggtcatggca gcgccaggcg
241 gcaggtcgga gccgccgcag ctccccgagt acagctgcag ctacatggtg tcgcggccgg
301 tctacagcga gctcgctttc cagcaacagc acgagcggcg cctgcaggag cgcaagacgc
361 tgcgggagag cctggccaag tgctgcagtt gttcaagaaa gagagccttt ggtgtgctaa
421 agactcttgt gcccatcttg gagtggctcc ccaaataccg agtcaaggaa tggctgctta
481 gtgacgtcat ttcgggagtt agtactgggc tagtggccac gctgcaaggg atggcatatg
541 ccctactagc tgcagttcct gtcggatatg gtctctactc tgcttttttc cctatcctga
601 catactttat ctttggaaca tcaagacata tctcagttgg accttttcca gtggtgagtt
661 taatggtggg atctgttgtt ctgagcatgg cccccgacga acactttctc gtatccagca
721 gcaatggaac tgtattaaat actactatga tagacactgc agctagagat acagctagag
781 tcctgattgc cagtgccctg actctgctgg ttggaattat acagttgata tttggtggct
841 tgcagattgg attcatagtg aggtacttgg cagatccttt ggttggtggc ttcacaacag
901 ctgctgcctt ccaagtgctg gtctcacagc taaagattgt cctcaatgtt tcaaccaaaa
961 actacaatgg agttctctct attatctata cgctggttga gatttttcaa aatattggtg
1021 ataccaatct tgctgatttc actgctggat tgctcaccat tgtcgtctgt atggcagtta
1081 aggaattaaa tgatcggttt agacacaaaa tcccagtccc tattcctata gaagtaattg
1141 tgacgataat tgctactgcc atttcatatg gagccaacct ggaaaaaaat tacaatgctg
1201 gcattgttaa atccatccca agggggtttt tgcctcctga acttccacct gtgagcttgt
1261 tctcggagat gctggctgca tcattttcca tcgctgtggt ggcttatgct attgcagtgt
1321 cagtaggaaa agtatatgcc accaagtatg attacaccat cgatgggaac caggaattca
1381 ttgcctttgg gatcagcaac atcttctcag gattcttctc ttgttttgtg gccaccactg
1441 ctctttcccg cacggccgtc caggagagca ctggaggaaa gacacaggtt gctggcatca
1501 tctctgctgc gattgtgatg atcgccattc ttgccctggg gaagcttctg gaacccttgc
1561 agaagtcggt cttggcagct gttgtaattg ccaacctgaa agggatgttt atgcagctgt
1621 gtgacattcc tcgtctgtgg agacagaata agattgatgc tgttatctgg gtgtttacgt
1681 gtatagtgtc catcattctg gggctggatc tcggtttact agctggcctt atatttggac
1741 tgttgactgt ggtcctgaga gttcagtttc cttcttggaa tggccttgga agcatcccta
1801 gcacagatat ctacaaaagt accaagaatt acaaaaacat tgaagaacct caaggagtga
1861 agattcttag attttccagt cctattttct atggcaatgt cgatggtttt aaaaaatgta
1921 tcaagtccac agttggattt gatgccatta gagtatataa taagaggctg aaagcgctga
1981 ggaaaataca gaaactaata aaaagtggac aattaagagc aacaaagaat ggcatcataa
2041 gtgatgctgt ttcaacaaat aatgcttttg agcctgatga ggatattgaa gatctggagg
2101 aacttgatat cccaaccaag gaaatagaga ttcaagtgga ttggaactct gagcttccag
2161 tcaaagtgaa cgttcccaaa gtgccaatcc atagccttgt gcttgactgt ggagctatat
2221 ctttcctgga cgttgttgga gtgagatcac tgcgggtgat tgtcaaagaa ttccaaagaa
2281 ttgatgtgaa tgtgtatttt gcatcacttc aagattatgt gatagaaaag ctggagcaat
2341 gcgggttctt tgacgacaac attagaaagg acacattctt tttgacggtc catgatgcta
2401 tactctatct acagaaccaa gtgaaatctc aagagggtca aggttccatt ttagaaacga
2461 tcactctcat tcaggattgt aaagataccc ttgaattaat agaaacagag ctgacggaag
2521 aagaacttga tgtccaggat gaggctatgc gtacacttgc atcctgaaag tgggttcggg
2581 aggtctctat gagcaaggaa tacaagacaa aacttcctca atgcattgac tatttcttca
2641 gactcaaaac actcattctt ttttctatta agccattgaa agagaagcac taagactgct
2701 tctaggcttt atttataaaa taaacacctt atccctaaca tgggcaaaat ggctagaatt
2761 attcagacga tttggcagcg tccagggtaa gctggtgtta taatacgctg ctgatctaca
2821 tcacagattt gctaataatg ttcacgtggg ccctggcata tctctgttca gttagagtga
2881 gtgctgaccc aacagcctct gtggtcaagc gagtcacgaa tgattaatca taaagaaaaa
2941 tcagtttttg actgacctgg atatccatga gctgcactga tcaccatgta aggtcacatt
3001 tagtaaatgc tgaaataaaa tgattaatgc atttatcaat aaaagccttt gaaaatactt
3061 tggataataa attggagttt taaaaatgca aatttgctta gtatctaata atgaagtgtt
3121 attacatata gccggaattg aggatctctt tgatcctgga aatggtttac ctaaaagcta
3181 cagaaccagg ccaatatatt ttgaaatatt gatgcagaca aatgaaataa taaagagatt
3241 ttcatggttt ataaaaatct tttttgatat gataataatc atgatcacaa ctgagatcaa
3301 aaaaatatat gacagattat tttgtttaaa aatgcagttt taattatctt agtctataga
3361 aatgatcatt gcatggaggc atgtataggt atgatctgtg taaaatctga cataaaaaca
3421 gtgctattct gagtgaaaat ttttttgatg tgcttacata accatggtga ttaaaatgag
3481 tttatatttt ttctcaaaaa ttttagcagt gtgtaaagta agtaatcttt aactgaactc
3541 tgaccactta aaaaaaaatc taaaaattga actacctata gtagtctgtg tttaaagtga
3601 atttttaaag acaaagcatt ctaaatgaac tcaatataaa aacattcatt tggaatgtac
3661 atactgaaaa atacaggttt ttttgaccaa aagtttttat atcttttctt tttatttatt
3721 tttttcctaa gtgccaacaa ttttctagat attatataca acacaggctt tgatcttggg
3781 gacttttccc atatatttca cactggagtg aatgaagttg tacttcattt ctagagaaaa
3841 gttataccca ggtccccaat tgagaatgtc ttgcttgatt gaaaacgaca tcatcccttg
3901 gtatactcca gggattggtt tcaggacccc tgcatttacc aaaatttgtg cacactcaag
3961 tcctgcagtc acccctgcct aaagatagaa tggcttctct gtttttcttc tgaaatacaa
4021 ccagaaacaa tgtgtctatt tctgaaagaa taggattaat gatcatacaa atgggttaat
4081 cctgaattct ggttgtaaat ctggttacag cataactagg attataatgc tgcctcattt
4141 tcacagcact acttgcttat attgacaaca aatcatctcg ctaaagagtg aatgtaggcc
4201 aggcgcggtg gctcatgcct gtaatcccag cactttggga ggccgaggcg ggtggatcac
4261 gaggtcagga gatcgagacc atcctggcta acatggtaaa accccgtctc tactaaaaat
4321 agaaaaaaag aaattagcct agcgtggtgg ctggcgggcg cctgtagtcc cagctatttg
4381 ggaggctaag gcaggagaat ggcgtgaacc cgggaggcgg agcttgcagt gagccgaggt
4441 cgtgccactg cactccagcc tgggcgacag agcaagactc cgtctcaaaa aaaaaaaaaa
4501 aaaaaaaaaa agagtgaatg taatagtctt gcagaaaatg aatgaatacc tttgttcaat
4561 aaaggaaata tgcactgctc acttttttga aggaaatgcc aaagttacgt tttacaacaa
4621 ggctagagtt tgtaaattct gggttcattt gtgatgacat aagtcagcaa actgcgggaa
4681 tactgtctct tctatgtatt ttgtgaatag taagcataat tttagttttg tattatcaat
4741 gaaaatttca cttgaaatta aagctgcctt ttgttatatt tttaacctat aggataagat
4801 tccagtattg tatatgagtt ttaacaaatt aaaaaatcaa atcatgtaca tttgaaaata
4861 tttgcacaca tttaaaaata aatgtaaagt tgtcttttaa actactcgga tgtgtccttt
4921 ctgaacaaaa
//