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
//