LOCUS AY033141 3912 bp mRNA linear HUM 24-AUG-2001 DEFINITION Homo sapiens Hermansky-Pudlak syndrome type-3 protein (HPS3) mRNA, complete cds. ACCESSION AY033141 VERSION AY033141.1 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 3912) AUTHORS Anikster,Y., Huizing,M., White,J., Shevchenko,Y.O., Fitzpatrick,D.L., Touchman,J.W., Comptom,J.G., Bale,S., Swank,R.T., Gahl,W.A. and Toro,J.R. TITLE Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico JOURNAL Nat. Genet. 28 (4), 376-380 (2001) PUBMED 11455388 REFERENCE 2 (bases 1 to 3912) AUTHORS Anikster,Y., Huizing,M., White,J., Shevchenko,Y., Fitzpatrick,D.L., Touchman,J.W., Comptom,J., Bale,S., Swank,R.T., Gahl,W.A. and Toro,J. TITLE Direct Submission JOURNAL Submitted (23-APR-2001) NICHD, NIH, 10 Center Drive Msc 1830, Bethesda, MD 20892, USA FEATURES Location/Qualifiers source 1..3912 /db_xref="H-InvDB:HIT000083386" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="3" /map="3q24" /country="Puerto Rico" gene 1..3912 /gene="HPS3" CDS 141..3155 /gene="HPS3" /codon_start=1 /product="Hermansky-Pudlak syndrome type-3 protein" /protein_id="AAK53457.1" /translation="MVQLYNLHPFGSQQVVPCKLEPDRFCGGGRDALFVAAGCKVEAF AVAGQELCQPRCAFSTLGRVLRLAYSEAGDYLVAIEEKNKATFLRAYVNWRNKRTENS RVCIRMIGHNVEGPFSKAFRDQMYIIEMPLSEAPLCISCCPVKGDLLVGCTNKLVLFS LKYQIINEEFSLLDFERSLIIHIDNITPVEVSFCVGYVAVMSDLEVLIVKLESGPKNG ERVHHHPHKTNNRIRRTEEGISNEISQLESDDFVICQKPLELLGEKSEQSGLSVTLES TGLADEKRKYSHFQHLLYRRFAPDISSYVLSDDIKLHSLQLLPIYQTGSLTSDGKNLS QEKELLSLFCFFSLPHVGYLYMVVKSVELMSVYQYPEKSQQAVLTPQFLHVITSNNLQ CFTVRCSAAAAREEDPYMDTTLKACPPVSMDVCALRIQLFIGLKAICHFKNHIILLTK AEPEAIPERRQSPKRLLSRKDTSVKIKIPPVAEAGWNLYIVNTISPVQLYKEMVDYSN TYKTVKTQSCIHLLSEAHLLVRAALMDASQLEPGEKAELLEAFKESCGHLGDCYSRLD SQHSHLTLPYYKMSGLSMAEVLARTDWTVEDGLQKYERGLIFYINHSLYENLDEELNE ELAAKVVQMFYVAEPKQVPHILCSPSMKNINPLTAMSYLRKLDTSGFSSILVTLTKAA VALKMGDLDMHRNEMKSHSEMKLVCGFILEPRLLIQQRKGQIVPTELALHLKETQPGL LVASVLGLQKNNKIGIEEADSFFKVLCAKDEDTIPQLLVDFWEAQLVACLPDVVLQEL FFKLTSQYIWRLSKRQPPDTTPLRTSEDLINACSHYGLIYPWVHVVISSDSLADKNYT EDLSKLQSLICGPSFDIASIIPFLEPLSEDTIAGLSVHVLCRTRLKEYEQCIDILLER CPEAVIPYANHELKEENRTLWWKKLLPELCQRIKCGGEKYQLYLSSLKETLSIVAVEL ELKDFMNVLPEDGTATFFLPYLLYCSRKKPLT" BASE COUNT 1105 a 808 c 867 g 1132 t ORIGIN 1 ccgcgggcgg ggccggctgg cgttcacgtg acccggcgtc attggctcgc tcgcggaagt 61 agtcctacat tcgcggtcag cgcggggtct ccgggcgccc tgcagggcgg gcaggctgtg 121 ccatcccgcc ggacgtcggg atggtgcagc tgtacaacct gcacccgttc gggtcgcagc 181 aggtggtgcc ctgcaagctg gagccggacc ggttctgtgg cggggggcgt gacgcgcttt 241 tcgtggcggc gggctgcaag gtggaggcgt tcgcggtggc cggccaggag ctgtgccagc 301 cgcggtgcgc cttctccacg ctgggccggg tgttgcgcct ggcctacagc gaggctggag 361 attatttggt agcaattgaa gagaaaaaca aagctacatt tctacgtgct tatgtgaact 421 ggagaaataa aaggactgaa aactctcgtg tgtgtatccg aatgattggg cataatgtgg 481 agggaccatt cagcaaagcc ttcagagacc agatgtacat tattgaaatg ccgctttcgg 541 aggccccctt gtgcatttcc tgttgccctg tgaaaggaga ccttctcgtt ggctgcacaa 601 ataaattagt cttatttagt ttgaagtacc agatcattaa tgaggaattc tcactattgg 661 actttgaacg ttctttaatt atacacatag ataatatcac tcctgttgag gtttcttttt 721 gtgttggata tgttgctgtc atgtcagact tagaagtctt aatcgtaaaa ctggagtcag 781 gccctaaaaa tggagagaga gttcaccacc atccacataa gaccaacaat cgaataagac 841 ggacagaaga aggcatcagt aatgaaattt cacagcttga gtcagatgat tttgtcatct 901 gccagaagcc cctggaactt cttggtgaaa aaagtgaaca gtctggatta tctgttacac 961 tggagtctac gggattagct gatgaaaaaa gaaaatattc ccactttcag cacctgctct 1021 atagacgttt tgctcctgat atttcgtcct atgtcttgtc tgatgacatc aagctacatt 1081 ccctccagct gctacccatt taccagaccg gttctcttac atctgatgga aaaaatttgt 1141 ctcaggaaaa agaattgctg agtctctttt gctttttctc cttacctcat gtgggctatc 1201 tctacatggt tgtcaaatct gttgaattga tgtcagtcta ccagtatcct gaaaagtctc 1261 agcaggcagt actcacgcca caatttttgc acgtcattac aagtaacaac ctgcagtgtt 1321 tcactgtgcg gtgcagtgcg gcggcagctc gtgaggagga cccgtacatg gacaccaccc 1381 tgaaggcttg cccacctgtc agtatggatg tctgtgcttt aagaatacag cttttcatag 1441 gcttgaaagc catctgtcac tttaaaaacc acatcatact tttgactaaa gcagaacctg 1501 aagccattcc agagagaaga cagtcaccca agaggcttct ttcgagaaaa gataccagtg 1561 ttaaaatcaa aatacctcct gtagctgagg ctgggtggaa tttgtatatt gtgaatacga 1621 tctcaccagt gcagctgtac aaagagatgg tagactatag caatacctat aagactgtca 1681 aaacccagag ctgcattcac cttctcagtg aggctcatct gttagtgcga gctgccctga 1741 tggatgccag tcagctggaa cctggagaga aggcagagct tttggaagca tttaaggaaa 1801 gctgtgggca ccttggggac tgttacagca ggcttgactc ccagcattct catctcacct 1861 tgccatacta taagatgtct ggtttgtcta tggctgaagt tctggcccgc acggactgga 1921 cagtagagga tggattacag aaatacgaga gaggattaat cttttacatt aatcattcac 1981 tttatgaaaa cctggatgaa gaattaaatg aagaattagc agcaaaagtg gttcagatgt 2041 tttatgtggc tgagccaaag caagtgcccc atattctctg tagtccttct atgaagaata 2101 ttaatccttt aactgccatg agctatctaa ggaagctgga tacttctggg ttttcatcga 2161 tcttagtgac attgaccaag gcagcagtgg ctctgaaaat gggagatctt gacatgcaca 2221 gaaatgaaat gaaaagccat tcagagatga agttggtatg tggcttcatt ctggaacctc 2281 ggctgttgat tcaacagaga aagggacaga ttgttccaac cgagcttgca cttcacttga 2341 aggaaactca gcctggattg cttgtggctt cagttctggg cttgcagaag aacaacaaaa 2401 ttggaattga agaagcagat tcctttttta aggtgctttg tgctaaggat gaagatacaa 2461 ttcctcagct cttggtagac ttttgggaag ctcagctagt ggcatgtctc ccagatgtgg 2521 tacttcagga actctttttc aaactcacat cacagtacat ctggagattg tctaagaggc 2581 agcctcctga caccacacca ttgcgaacat cggaggatct gataaatgcc tgtagtcatt 2641 atggcttaat ttatccatgg gttcacgtcg taatatcatc tgattcttta gctgataaaa 2701 attatacaga agatctttca aaattacagt ctcttatatg tggtccttca tttgacatag 2761 cttccattat tccgttcttg gagccacttt cagaagacac tattgccggc ctcagtgtcc 2821 atgttctgtg tcgtacacgc ttgaaagagt atgaacagtg catagacata ctgttagaga 2881 gatgcccgga ggcagtcatt ccatatgcta atcatgaact gaaagaagag aaccggactc 2941 tgtggtggaa aaaactgttg cctgaacttt gtcagagaat aaaatgtggt ggagagaagt 3001 atcaactcta cctgtcatca ttaaaagaaa cattgtcaat tgttgctgtg gaactagaac 3061 tgaaggattt catgaatgtt ctcccagaag atggtactgc aacatttttc ttgccatatc 3121 ttctctattg cagtcgaaag aaaccattga cttaaaggta tcatttgaaa aataccataa 3181 tggcatttga gactgaattt ctaaaaattg aatgccaaag tacaagtaga ggagtttttt 3241 attttatata tacacacaca cacacacaca cacacacaca cacacacata tatgatacaa 3301 atgctttcag gctgcttacc ttaccgtgta gtggtaacta ttcacttctt aatttatgac 3361 ctcaatcaat ttaattgtct agaatgtaaa aagtctttaa gacataagaa ttcctcaaag 3421 aagccataca ttttttaagg tggggattga cttttattcc aaggaacaac atcagttcac 3481 tgttgttgga gacatgacaa tcattttcat cccaagaaca ctttaaggaa acattttaca 3541 agtatgcttg aaagaatgtc actaactggt ccagaatttt atcttcttga tttttccaga 3601 tttctctatg tttttgagaa agatgttaat gttttgccat ggtaaaagat ttcaaacctc 3661 attttttttg ttccttttct tgttactttt aagaaaactc atgctctgtt tctctgaatc 3721 aaatgaagta gaagtttaca aagctaactt tcttcttgtc tagctattaa catgatttgt 3781 caaatgcatg tttttttcag ccaaagcctt gtttccattt ttgttgatgt gtactcttgc 3841 tcttttagct agagtgtatg tgaaaataaa gaaatacatc attgtattca caaaaaaaaa 3901 aaaaaaaaaa aa //