LOCUS HSU56602 3480 bp DNA linear HUM 27-AUG-1996 DEFINITION Human peroxisome biogenesis disorder group 4 gene (PXAAA1) mRNA, complete cds. ACCESSION U56602 VERSION U56602.1 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 3480) AUTHORS Yahraus,T., Braverman,N., Dodt,G., Kalish,J.E., Morrell,J.C., Moser,H.W., Valle,D. and Gould,S.J. TITLE The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor JOURNAL EMBO J. 15 (12), 2914-2923 (1996) PUBMED 8670792 REFERENCE 2 (bases 1 to 3480) AUTHORS Gould,S.J. TITLE Direct Submission JOURNAL Submitted (24-APR-1996) Stephen J. Gould, Biological Chemistry, The Johns Hopkins University School of Medicine, 725 North Wolfe Street, Baltimore, MD 21205, USA COMMENT PXAAA1 was intially identified on the basis of sequence similarity between the deduced aa sequence of a human EST clone and the Pichia pastoris PAS5 gene, mutations in which cause a defect in the import of both PTS1 and PTS2 containing proteins into the peroxisome. The observation that peroxisome biogenesis disorder patients belonging to the fourth complementation group carry mutations in PXAAA1, and have defects in the import of both PTS1 and PTS2 proteins suggests that PXAAA1 is indeed the human ortholog of P. pastoris PAS5. The product of PXAAA1, Pxaaa1p, contains consensus sequences for an ATPase, and substitution of an arginine codon in place of the lysine codon with the Walker A motif of PXAAA1 abolishes its biological activity, indicating that Pxaaa1p is an ATPase. FEATURES Location/Qualifiers source 1..3480 /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" /chromosome="6" /map="6p11-6p22" gene 213..3155 /gene="PXAAA1" CDS 213..3155 /gene="PXAAA1" /experiment="experimental evidence, no additional details recorded" /note="peroxisome biogenesis disorder group 4; required for stability of the PTS1 receptor; Description: PBD group 4 gene; ATPase, AAA family" /codon_start=1 /product="Pxaaa1p" /protein_id="AAC50655.1" /translation="MALAVLRVLEPFPTETPPLAVLLPPGGPWPAAELGLVLALRPAG ESPAGPALLVAALEGPDAGTEEQGPGPPQLLVNRALLRLLALGSGAWVRARAVRRPPA LGWALLGTSLGPGLGPRVGPLLVRRGETLPVPGPRVLETRPALQGLLGPGTRLAVTEL RGRARLCPESGDSSRPPPPPVVSSFAVSGTVRRLQGVLGGTGDSLGVSRSCLRGLGLF QGEWVWVAQARESSNTSQPHLARVQVLEPRWDLSDRLGPGSGPLGEPLADGLALVPAT LAFNLGCDPLEMGELRIQRYLEGSIAPEDKGSCSLLPGPPFARELHIEIVSSPHYSTN GNYDGVLYRHFQIPRVVQEGDVLCVPTIGQVEILEGSPEKLPRWREMFFKVKKTVGEA PDGPASAYLADTTHTSLYMVGSTLSPVPWLPSEESTLWSSLSPPGLEALVSELCAVLK PRLQPGGALLTGTSSVLLRGPPGCGKTTVVAAACSHLGLHLLKVPCSSLCAESSGAVE TKLQAIFSRARRCRPAVLLLTAVDLLGRDRDGLGEDARVMAVLRHLLLNEDPLNSCPP LMVVATTSRAQDLPADVQTAFPHELEVPALSEGQRLSILRALTAHLPLGQEVNLAQLA RRCAGFVVGDLYALLTHSSRAACTRIKNSGLAGGLTEEDEGELCAAGFPLLAEDFGQA LEQLQTAHSQAVGAPKIPSVSWHDVGGLQEVKKEILETIQLPLEHPELLSLGLRRSGL LLHGPPGTGKTLLAKAVATECSLTFLSVKGPELINMYVGQSEENVREVFARARAAAPC IIFFDELDSLAPSRGRSGDSGGVMDRVVSQLLAELDGLHSTQDVFVIGATNRPDLLDP ALLRPGRFDKLVFVGANEDRASQLRVLSAITRKFKLEPSVSLVNVLDCCPPQLTGADL YSLCSDAMTAALKRRVHDLEEGLEPGSSALMLTMEDLLQAAARLQPSVSEQELLRYKR IQRKFAAC" BASE COUNT 618 a 1056 c 1106 g 700 t ORIGIN 1 cgatgaaggt tactgcctat cgaggcacga cgcaagatca atccgaggcg cagctaaccc 61 cctcagagca agttcgcggc acccgacgcc cctccccttt tcctctggcc tcccctgacg 121 gaagcggaag cggccctcgc gcacactagt cgtctggttc tctggctccg gaagctgcgc 181 tccttcaccc tcctcgttgg tgtcctgtca ccatggcgct ggctgtcttg cgggtcctgg 241 agccctttcc gaccgagaca cccccgttgg cagtgctgct gccacccggg ggcccgtggc 301 cggcggcgga gctgggcctg gtgctggccc tgaggcctgc aggggagagc ccggcagggc 361 cggcgctgct ggtggcagcc ctggaggggc cggacgcggg caccgaagag cagggtcccg 421 ggccgccgca gctactggtt aaccgcgcgc tgctgcggct cctggcactg ggctccgggg 481 cctgggtgcg ggcgcgggcg gtgcggcggc ccccggcgct aggttgggca ctgcttggca 541 cctcgctggg gcctgggctc ggaccgcgag tcgggccgct gctggtgagg cgcggagaga 601 ccctcccagt tcccggaccg cgggtgctgg agacgcggcc ggcgttgcaa gggctgctgg 661 gcccagggac tcggctggct gtgactgagc tccgcgggcg ggccagactg tgtccagagt 721 ctggggacag cagtcggccc ccacccccgc ccgtggtgtc ctcctttgcg gtttctggca 781 cagtgcggcg actccaggga gttctgggag ggactggaga ttcactaggg gtgagccgga 841 gctgtctccg tggccttggc ctcttccagg gcgaatgggt gtgggtggcc caggccagag 901 agtcatcgaa cacttcacag ccgcacttgg ctagggtgca ggtcctagaa cctcgctggg 961 acctctctga tagactggga cccggctctg gaccgctggg agagcccctc gctgacggac 1021 tggcgcttgt ccctgccact ttggctttta atcttggctg tgaccccctg gaaatgggag 1081 agctcagaat tcagaggtac ttggaaggct ccatcgcccc tgaagacaaa ggaagctgct 1141 cattgctgcc tgggcctcca tttgccagag agttacacat cgaaattgtg tcttctcccc 1201 actacagcac taatggaaat tatgacggtg ttctttaccg gcactttcag atacccaggg 1261 tagtccagga aggggatgtt ctatgtgtgc caacaattgg gcaagtagag atcctggaag 1321 gaagtccaga gaaactgccc aggtggcggg aaatgttttt taaagtgaag aaaacagttg 1381 gggaagctcc agatggacca gccagtgcct acttggccga caccacccat acctccttgt 1441 acatggtggg ttctaccctg agccctgttc catggctccc ttcagaggaa tccactctct 1501 ggagcagttt gtctcctcca ggcctggagg ccttggtgtc tgaactctgt gctgtcctga 1561 agcctcgcct ccagccaggg ggtgccctgc tgacaggaac tagcagtgtc cttctacggg 1621 gccccccagg ctgtgggaag accacagtag ttgctgctgc ctgtagtcac cttgggctcc 1681 acttactgaa ggtgccctgc tccagcctct gtgcagaaag tagtggggct gtggagacaa 1741 aactgcaggc catcttctcc cgggcccgcc gttgccggcc tgcagtcctg ttgctcacag 1801 ctgtggacct tctgggccgg gaccgtgatg ggctgggtga ggatgcccgt gtgatggctg 1861 tgctgcgtca cctcctcctc aatgaggacc ccctcaacag ctgccctccc ctcatggttg 1921 tggccaccac aagccgggcc caggacctgc ctgctgatgt gcagacagca tttcctcatg 1981 agctcgaggt gcctgctctg tcagaggggc agcggctcag catcctgcgg gccctcactg 2041 cccaccttcc cctgggccag gaggtgaact tggcacagct agcacggcgg tgtgcaggct 2101 ttgtggtagg ggatctctat gcccttctga cccacagcag ccgggcagcc tgcaccagga 2161 tcaagaactc aggtttggca ggtggcttga ctgaggagga tgagggggag ctgtgtgctg 2221 ccggctttcc tctcctggct gaggactttg ggcaggcact ggagcaactg cagacagctc 2281 actcccaggc cgttggagcc cccaagatcc cctcagtgtc ctggcatgat gtgggtgggc 2341 tgcaggaggt gaagaaggag atcctggaga ccattcagct ccccctggag caccctgagc 2401 tactgagcct gggcctgaga cgctcaggcc ttctgctcca tgggccccct ggcaccggca 2461 agacccttct ggccaaggca gtagccactg agtgcagcct taccttcctc agcgtgaagg 2521 ggccagagct cattaacatg tatgtgggcc aaagtgagga gaatgtgcgg gaagtgtttg 2581 ccagggccag ggctgcagct ccatgcatta tcttctttga tgaactggac tctttggccc 2641 caagccgggg gcgaagtgga gattctggag gagtgatgga cagggtggtg tctcagctcc 2701 ttgccgagct agatgggctg cacagcactc aggatgtgtt tgtgattgga gccaccaaca 2761 gaccagatct cctggaccct gcccttctgc ggcctggcag atttgacaag ctggtgtttg 2821 tgggggcaaa tgaggaccgg gcctcccagc tacgcgttct aagtgccatc acacgcaaat 2881 tcaagctaga gccatctgtg agcctggtaa acgtgctaga ttgctgccct ccccagctga 2941 cgggcgcgga cctctactct ctctgctctg atgctatgac agctgccctc aaacgcaggg 3001 ttcatgacct ggaggaaggg ctggaaccag gtagctcagc actgatgctc accatggagg 3061 acttgctgca ggctgccgcc cggctgcaac cctcagtcag tgagcaggag ctgctccggt 3121 acaagcgcat ccagcgcaag tttgctgcct gctaggagcc ccccagggtc tgggaccccg 3181 ctcagcatgg ctgcaggtac cttgatagcc cacagagaga tctgggaagg aagggctcct 3241 cctcaggctg ctgccaaccc acctggaggc cacctccctc caggagatcc cagggtgcaa 3301 agtggcattg agacagcagc aacagctcaa gagatatctc ctgcctactt gcccctcctt 3361 ccaggccggc tctaagagaa aggcccatct actcaggaag agggccaggc cttgggttct 3421 ggggattggg ccctgagagg gctagttctg tggctgaaaa taaagcatgt cccgcccccg //