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
//