LOCUS HSU53346 3125 bp mRNA linear HUM 15-SEP-1996 DEFINITION Human PWP2H protein mRNA, complete cds. ACCESSION U53346 VERSION U53346.1 KEYWORDS WD40 repeats. 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 3125) AUTHORS Yamakawa,K., Gao,D.Q. and Korenberg,J.R. TITLE A periodic tryptophan protein 2 gene homologue (PWP2H) in the candidate region of progressive myoclonus epilepsy on 21q22.3 JOURNAL Cytogenet. Cell Genet. 74 (1-2), 140-145 (1996) PUBMED 8893822 REFERENCE 2 (bases 1 to 3125) AUTHORS Yamakawa,K., Gao,D. and Korenberg,J.R. TITLE Direct Submission JOURNAL Submitted (01-APR-1996) Kazuhiro Yamakawa, Medical Genetics, Cedars-Sinai Research Institute, 110 George Burns Road, Davis Building, Suite 2005, Los Angeles, CA 90048-1869, USA FEATURES Location/Qualifiers source 1..3125 /db_xref="H-InvDB:HIT000220297" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="21" /map="21q22.3" /tissue_type="brain" /dev_stage="14 week fetus" /note="trisomy 21" CDS 25..2784 /note="similar to periodic tryptophan protein 2 (PWP2)" /codon_start=1 /product="PWP2H protein" /protein_id="AAB08084.1" /translation="MKFAYRFSNLLGTVYRRGNLNFTCNGNSVISPVGNRVTVFDLKN NKSDTLPLATRYNVKCVGLSPDGRLAIIVDEGGDALLVSLVCRSVLHHFHFKGSVHSV SFSPDGRKFVVTKGNIAQMYHAPGKKREFNAFVLDKTYFGPYDETTCIDWTDDSRCFV VGSKDMSTWVFGAERWDNLIYYALGGHKDAIVACFFESNSLDLYSLSQDGVLCMWQCD TPPEGLRLKPPAGWKADLLQREEEEEEEEDQEGDRETTIRGKATPAEEEKTGKVKYSR LAKYFFNKEGDFNNLTAAAFHKKSHLLVTGFASGIFHLHELPEFNLIHSLSISDQSIA SVAINSSGDWIAFGCSGLGQLLVWEWQSESYVLKQQGHFNSMVALAYSPDGQYIVTGG DDGKVKVWNTLSGFCFVTFTEHSSGVTGVTFTATGYVVVTSSMDGTVRAFDLHRYRNF RTFTSPRPTQFSCVAVDASGEIVSAGAQDSFEIFVWSMQTGRLLDVLSGHEGPISGLC FNPMKSVLASASWDKTVRLWDMFDSWRTKETLALTSDALAVTFRPDGAELAVATLNSQ ITFWDPENAVQTGSIEGRHDLKTGRKELDKITAKHAAKGKAFTALCYSADGHSILAGG MSKFVCIYHVREQILMKRFEISCNLSLDAMEEFLNRRKMTEFGNLALIDQDAGQEDGV AIPLPGVRKGDMSSRHFKPEIRVTSLRFSPTGRCWAATTTEGLLIYSLDTRVLFDPFE LDTSVTPGRVREALRQQDFTRAILMALRLNESKLVQEALEAVPRGEIEVVTSSLPELY VEKVLEFLASSFEVSRHLEFYLLWTHKLLMLHGQKLKSRAGTLLPVIQFLQKSIQRHL DDLSKLCSWNHYNMQYALAVSKQRGTKRSLDPLGSEEEAEASEDDSLHLLGGGGRDSE EEMLA" BASE COUNT 688 a 845 c 928 g 664 t ORIGIN 1 tgcggcacac gtgcgacggc cgtgatgaag ttcgcttacc ggttttcaaa tttgctgggt 61 acggtgtacc ggcgtgggaa cctaaatttt acctgcaatg gaaattcagt tatcagtccc 121 gtgggcaata gagtcactgt atttgacctt aaaaacaaca aatctgacac gctgcccctg 181 gccactcggt acaacgtcaa gtgcgtgggg ctgtccccgg atggccgcct cgctatcatc 241 gtcgatgaag ggggcgatgc gctgctggtc agcctggtct gcaggtctgt gctgcaccac 301 ttccacttca agggctctgt gcacagtgtg tccttctccc ctgatggcag gaagtttgtt 361 gtcacaaagg gtaacattgc ccagatgtat catgcccctg ggaagaagcg ggagttcaac 421 gccttcgttc tggacaagac ctattttggg ccctacgatg agaccacctg catcgactgg 481 acggatgact ccaggtgctt tgtggttggg agcaaagaca tgtccacctg ggtgttcgga 541 gccgagcgct gggacaacct catctactat gcactggggg gacataagga tgccatcgtg 601 gcctgcttct ttgaatccaa cagcctggac ctgtactcac tcagccagga cggagtgctg 661 tgcatgtggc agtgtgacac gccccccgag ggcttgcggc tgaagccccc tgcgggctgg 721 aaagcagacc tgttgcagcg ggaggaggaa gaggaggagg aggaggacca ggagggcgac 781 agagagacca ccatccgggg aaaagccact ccggccgagg aggagaagac aggaaaagtg 841 aagtactcac ggctggccaa gtacttcttc aataaagaag gggattttaa caacctgaca 901 gctgcagcat ttcataagaa gtctcacctc ttggtcactg gctttgcttc tggaatcttc 961 catcttcatg agctgccaga gtttaacctc atccactccc tgagcatctc agatcagagc 1021 atcgcctcag tggccatcaa tagctcgggg gactggattg cttttggctg ttcaggcctg 1081 ggccagctgc tggtgtggga gtggcagagt gagtcctacg tgctcaagca gcagggccac 1141 ttcaacagca tggtggccct ggcctactcg cccgacggac agtacatcgt gactggcggg 1201 gacgacggca aggtcaaggt gtggaacacc ctcagcggct tctgcttcgt cacttttacg 1261 gagcactcca gcggggtgac cggtgtgacc tttactgcca ccggctacgt tgtggtgacc 1321 tcatccatgg acgggaccgt gcgagccttt gaccttcaca ggtaccgaaa cttccgcacc 1381 ttcacctctc cacgccccac ccagttctcc tgtgtggcgg tggatgcgag cggtgagatc 1441 gtctctgcag gggcgcagga ctcctttgag attttcgtgt ggtccatgca gacaggcagg 1501 ctccttgatg ttttgtctgg acacgaaggg cccatcagtg gtctgtgttt taacccaatg 1561 aagtccgtcc tggccagtgc ctcctgggac aagacggtgc gcctatggga catgtttgac 1621 agctggagga ccaaggagac gctggccctg acctctgatg ctctggctgt gacttttcgc 1681 cctgatggtg cggagctggc tgtggccaca ctgaactcac agatcacctt ctgggaccct 1741 gagaacgcgg tgcagacggg ctccattgag ggcaggcatg acctcaagac tggcaggaag 1801 gagctggaca agattacagc caagcacgcg gccaagggga aggccttcac cgccctgtgc 1861 tactctgcag acggccacag catcctggcg ggaggcatgt ccaagttcgt gtgcatctac 1921 cacgtccgtg agcagattct catgaagagg ttcgagatct cttgcaacct gtctctggac 1981 gccatggagg aatttttgaa ccgaagaaaa atgacagagt ttggcaacct ggcactaatt 2041 gatcaggatg ctgggcagga ggatggagtc gcgataccac tgccaggcgt caggaaaggt 2101 gacatgagtt ctcggcactt caaacctgag atcagggtga cctcactccg cttctctccc 2161 actgggcgct gctgggcggc caccaccacg gagggactcc tcatctactc cctggacacc 2221 cgcgtgctct ttgacccgtt tgagctggac accagcgtca cccccgggag ggtgcgcgag 2281 gcactgcgcc agcaggactt caccagggcc atcctcatgg ccctccggct caacgagagc 2341 aaactggtgc aggaggccct ggaggcggtg cccaggggcg agattgaagt ggtcacctcc 2401 tcccttcctg aactgtatgt ggagaaagtg ctggagtttt tagcttcctc ctttgaagtg 2461 tctcgccacc tggaattcta cctcctctgg actcacaaac tgctcatgtt gcacggacag 2521 aagctgaagt ccagagccgg gacgctgctg cctgtcattc agttcctcca gaagagcatc 2581 cagcggcacc tggacgacct gtcgaaactc tgtagctgga accactataa catgcagtac 2641 gcactagcag tttccaagca gcggggcaca aaacgctccc tagacccgct gggaagtgag 2701 gaggaggcag aagcatctga agatgacagc ctgcatctgc ttggaggagg aggcagagac 2761 tcagaagaag agatgctggc ctagagccag ccggttgcag cgttggattg tgccggctaa 2821 gacctgccag ggagatggga cccttgtgcc acctgggcca gcaaagagga ggggtccaga 2881 gaacagctga aatactgtca ctagtggtag tgacttgctt ttcctgtgca cacatgtagc 2941 ccatcaggac agcgagccga cgggtcacgc caggggccgg cacgcactgg cacctggccc 3001 caggagcggg gccgtgtgaa cggtgatgaa tgttgaaaat gcgtctcaga gaggtattca 3061 catgaacttt gtatgagact tatttatatt tttaacataa aggtttgata aagaacttag 3121 ggatt //