LOCUS AF091242 2014 bp mRNA linear HUM 20-OCT-1998 DEFINITION Homo sapiens ATP sulfurylase/APS kinase 2 mRNA, complete cds. ACCESSION AF091242 VERSION AF091242.1 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 2014) AUTHORS ul Haque,M.F., King,L.M., Krakow,D., Cantor,R.M., Rusiniak,M.E., Swank,R.T., Superti-Furga,A., Haque,S., Abbas,H., Ahmad,W., Ahmad,M. and Cohn,D.H. TITLE Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse JOURNAL Nat. Genet. 20 (2), 157-162 (1998) PUBMED 9771708 REFERENCE 2 (bases 1 to 2014) AUTHORS ul Haque,M.F., King,L.M., Krakow,D., Cantor,R.M., Rusiniak,M.E., Swank,R.T., Superti-Furga,A., Haque,S., Abbas,H., Ahmad,W., Ahmad,M. and Cohn,D.H. TITLE Direct Submission JOURNAL Submitted (08-SEP-1998) Pediatrics, Medical Genetics, Cedars-Sinai Research Institute, 8700 Beverly Blvd., Los Angeles, CA 90048, USA FEATURES Location/Qualifiers source 1..2014 /db_xref="H-InvDB:HIT000068320" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="10" /map="10q24" /tissue_type="cartilage" CDS 81..1925 /note="ATPSK2" /codon_start=1 /product="ATP sulfurylase/APS kinase 2" /protein_id="AAC64583.1" /translation="MSGIKKQKTENQQKSTNVVYQAHHVSRNKRGQVVGTRGGFRGCT VWLTGLSGAGKTTISFALEEYLVSHAIPCYSLDGDNVRHGLNRNLGFSPGDREENIRR IAEVAKLFADAGLVCITSFISPFAKDRENARKIHESAGLPFFEIFVDAPLNICESRDV KGLYKRARAGEIKGFTGIDSDYEKPETPERVLKTNLSTVSDCVHQVVELLQEQNIVPY TIIKDIHELFVPENKLDHVRAEAETLPSLSITKLDLQWVQVLSEGWATPLKGFMREKE YLQVMHFDTLLDDGVINMSIPIVLPVSAEDKTRLEGCSKFVLAHGGRRVAILRDAEFY EHRKEERCSRVWGTTCTKHPHIKMVMESGDWLVGGDLQVLEKIRWNDGLDQYRLTPLE LKQKCKEMNADAVFAFQLRNPVHNGHALLMQDTCRRLLERGYKHPVLLLHPLGGWTKD DDVPLDWRMKQHAAVLEEGVLDPKSTIVAIFPSPMLYAGPTEVQWHCRSRMIAGANFY IVGRDPAGMPHPETKKDLYEPTHGGKVLSMAPGLTSVEIIPFRVAAYNKAKKAMDFYD PARHNEFDFISGTRMRKLAREGENPPDGFMAPKAWKVLTDYYRSLEKN" variation 1504 /note="in SEMD Pakistani type" /replace="a" BASE COUNT 515 a 492 c 533 g 474 t ORIGIN 1 ctgctgccgc cgccgccgcc gccgtccctg cgtccttcgg tctctgctcc cgggacccgg 61 ctccgccgca gccagccagc atgtcgggga tcaagaagca aaagacggag aaccagcaga 121 aatccaccaa tgtagtctat caggcccacc atgtgagcag gaataagaga gggcaagtgg 181 ttggaacaag gggtgggttc cgaggatgta ccgtgtggct aacaggtctc tctggtgctg 241 gaaaaacaac gataagtttt gccctggagg agtaccttgt ctcccatgcc atcccttgtt 301 actccctgga tggggacaat gtccgtcatg gccttaacag aaatctcgga ttctctcctg 361 gggacagaga ggaaaatatc cgccggattg ctgaggtggc taagctgttt gctgatgctg 421 gtctggtctg cattaccagc tttatttctc cattcgcaaa ggatcgtgag aatgcccgca 481 aaatacatga atcagcaggg ctgccattct ttgaaatatt tgtagatgca cctctaaata 541 tttgtgaaag cagagacgta aaaggcctct ataaaagggc cagagctggg gagattaaag 601 gatttacagg tattgattct gattatgaga aacctgaaac tcctgagcgt gtgcttaaaa 661 ccaatttgtc cacagtgagt gactgtgtcc accaggtagt ggaacttctg caagagcaga 721 acattgtacc ctatactata atcaaagata tccacgaact ctttgtgccg gaaaacaaac 781 ttgaccacgt ccgagctgag gctgaaactc tcccttcatt atcaattact aagctggatc 841 tccagtgggt ccaggttttg agcgaaggct gggccactcc cctcaaaggt ttcatgcggg 901 agaaggagta cttacaggtt atgcactttg acaccctgct agatgatggc gtgatcaaca 961 tgagcatccc cattgtactg cccgtctctg cagaggataa gacacggctg gaagggtgca 1021 gcaagtttgt cctggcacat ggtggacgga gggtagctat cttacgagac gctgaattct 1081 atgaacacag aaaagaggaa cgctgttccc gtgtttgggg gacaacatgt acaaaacacc 1141 cccatatcaa aatggtgatg gaaagtgggg actggctggt tggtggagac cttcaggtgc 1201 tggagaaaat aagatggaat gatgggctgg accaataccg tctgacacct ctggagctca 1261 aacagaaatg taaagaaatg aatgctgatg cggtgtttgc attccagttg cgcaatcctg 1321 tccacaatgg ccatgccctg ttgatgcagg acacctgccg caggctccta gagaggggct 1381 acaagcaccc ggtcctccta ctacaccctc tgggcggctg gaccaaggat gacgatgtgc 1441 ctctagactg gcggatgaag cagcacgcgg ctgtgctcga ggaaggggtc ctggatccca 1501 agtcaaccat tgttgccatc tttccgtctc ccatgttata tgctggcccc acagaggtcc 1561 agtggcactg caggtcccgg atgattgcgg gtgccaattt ctacattgtg gggagggacc 1621 ctgcaggaat gccccatcct gaaaccaaga aggatctgta tgaacccact catgggggca 1681 aggtcttgag catggcccct ggcctcacct ctgtggaaat cattccattc cgagtggctg 1741 cctacaacaa agccaaaaaa gccatggact tctatgatcc agcaaggcac aatgagtttg 1801 acttcatctc aggaactcga atgaggaagc tcgcccggga aggagagaat cccccagatg 1861 gcttcatggc ccccaaagca tggaaggtcc tgacagatta ttacaggtcc ctggagaaga 1921 actaagcctt tgggtccaga gtttctttct gaagtgctct ttgattacct tttctatttt 1981 tatgattaga tgctttgtat taaattgctt ctca //