LOCUS AF026086 4343 bp mRNA linear HUM 19-NOV-2009
DEFINITION Homo sapiens peroxisome biogenesis disorder protein 1 (PEX1) mRNA,
complete cds.
ACCESSION AF026086
VERSION AF026086.1
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 4343)
AUTHORS Reuber,B.E., Germain-Lee,E., Collins,C.S., Morrell,J.C.,
Ameritunga,R., Moser,H.W., Valle,D. and Gould,S.J.
TITLE Mutations in PEX1 are the most common cause of peroxisome
biogenesis disorders
JOURNAL Nat. Genet. 17 (4), 445-448 (1997)
PUBMED 9398847
REFERENCE 2 (bases 1 to 4343)
AUTHORS Gould,S.J.
TITLE Direct Submission
JOURNAL Submitted (18-SEP-1997) Biological Chemistry, The Johns Hopkins
University School of Medicine, 725 North Wolfe Street, Baltimore,
MD 21205, USA
FEATURES Location/Qualifiers
source 1..4343
/db_xref="H-InvDB:HIT000062798"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="7"
/map="7q21-7q22"
gene 1..4343
/gene="PEX1"
/note="the peroxisome biogenesis disorder group 1 gene"
CDS 61..3912
/gene="PEX1"
/function="required for stability of PEX5 and protein
import into the peroxisome matrix"
/note="PEX1 is a member of the AAA subfamily of ATPases"
/codon_start=1
/product="peroxisome biogenesis disorder protein 1"
/protein_id="AAB87880.1"
/translation="MWGSDRLAGAGGGGAAVTVAFTNARDCFLHLPRRLVAQLHLLQN
QAIEVVWSHQPAFLSWVEGRHFSDQGENVAEINRQVGQKLGLSNGGQVFLKPCSHVVS
CQQVEVEPLSADDWEILELHAVSLEQHLLDQIRIVFPKAIFPVWVDQQTYIFIQIVAL
IPAASYGRLETDTKLLIQPKTRRAKENTFSKADAEYKKLHSYGRDQKGMMKELQTKQL
QSNTVGITESNENESEIPVDSSSVASLWTMIGSIFSFQSEKKQETSWGLTEINAFKNM
QSKVVPLDNIFRVCKSQPPSIYNASATSVFHKHCAIHVFPWDQEYFDVEPSFTVTYGK
LVKLLSPKQQQSKTKQNVLSPEKEKQMSEPLDQKKIRSDHNEEDEKACVLQVVWNGLE
ELNNAIKYTKNVEVLHLGKVWIPDDLRKRLNIEMHAVVRITPVEVTPKIPRSLKLQPR
ENLPKDISEEDIKTVFYSWLQQSTTTMLPLVISEEEFIKLETKDGLKEFSLSIVHSWE
KEKDKNIFLLSPNLLQKTTIQVLLDPMVKEENSEEIDFILPFLKLSSLGGVNSLGVSS
LEHITHSLLGRPLSRQLMSLVAGLRNGALLLTGGKGSGKSTLAKAICKEAFDKLDAHV
ERVDCKALRGKRLENIQKTLEVAFSEAVWMQPSVVLLDDLDLIAGLPAVPEHEHSPDA
VQSQRLAHALNDMIKEFISMGSLVALIATSQSQQSLHPLLVSAQGVHIFQCVQHIQPP
NQEQRCEILCNVIKNKLDCDINKFTDLDLQHVAKETGGFVARDFTVLVDRAIHSRLSR
QSISTREKLVLTTLDFQKALRGFLPASLRSVNLHKPRDLGWDKIGGLHEVRQILMDTI
QLPAKYPELFANLPIRQRTGILLYGPPGTGKTLLAGVIARESRMNFISVKGPELLSKY
IGASEQAVRDIFIRAQAAKPCILFFDEFESIAPRRGHDNTGVTDRVVNQLLTQLDGVE
GLQGVYVLAATSRPDLIDPALLRPGRLDKCVYCPPPDQVSRLEILNVLSDSLPLADDV
DLQHVASVTDSFTGADLKALLYNAQLEALHGMLLSSGLQDGSSSSDSDLSLSSMVFLN
HSSGSDDSAGDGECGLDQSLVSLEMSEILPDESKFNMYRLYFGSSYESELGNGTSSDL
SSQCLSAPSSMTQDLPGVPGKDQLFSQPPVLRTASQEGCQELTQEQRDQLRADISIIK
GRYRSQSGEDESMNQPGPIKTRLAISQSHLMTALGHTRPSISEDDWKNFAELYESFQN
PKRRKNQSGTMFRPGQKVTLA"
BASE COUNT 1330 a 851 c 947 g 1215 t
ORIGIN
1 ccgggtcccg ggtcctttgc ggcgctaggg tgggcgaacc cagagggacg ctccgggacg
61 atgtggggca gcgatcgcct ggcgggtgct gggggaggcg gggcggcagt gactgtggcc
121 ttcaccaacg ctcgcgactg cttcctccac ctgccgcggc gtctcgtggc ccagctgcat
181 ctgctgcaga atcaagctat agaagtggtc tggagtcacc agcctgcatt cttgagctgg
241 gtggaaggca ggcattttag tgatcaaggt gaaaatgtgg ctgaaattaa cagacaagtt
301 ggtcaaaaac ttggactctc aaatggggga caggtatttc tcaagccatg ttcccatgtg
361 gtatcttgtc aacaagttga ggtggaaccc ctctcagcag atgattggga gatactggag
421 ctgcatgctg tttcccttga acaacatctt ctagatcaaa ttcgaatagt ttttccaaaa
481 gccatttttc ctgtttgggt tgatcaacaa acgtacatat ttatccaaat tgttgcacta
541 ataccagctg cctcttatgg aaggctggaa actgacacca aactccttat tcagccaaag
601 acacgccgag ccaaagagaa tacattttca aaagctgatg ctgaatataa aaaacttcat
661 agttatggaa gagaccagaa aggaatgatg aaagaacttc aaaccaagca acttcagtca
721 aatactgtgg gaatcactga atctaatgaa aacgagtcag agattccagt tgactcatca
781 tcagtagcaa gtttatggac tatgatagga agcatttttt cctttcaatc tgagaagaaa
841 caagagacat cttggggttt aactgaaatc aatgcattca aaaatatgca gtcaaaggtt
901 gttcctctag acaatatttt cagagtatgc aaatctcaac ctcctagtat atataacgcg
961 tcagcaacct ctgtttttca taaacactgt gccattcatg tatttccatg ggaccaggaa
1021 tattttgatg tagagcccag ctttactgtg acatatggaa agctagttaa gctactttct
1081 ccaaagcaac agcaaagtaa aacaaaacaa aatgtgttat cacctgaaaa agagaagcag
1141 atgtcagagc cactagatca aaaaaaaatt aggtcagatc ataatgaaga agatgagaag
1201 gcctgtgtgc tacaagtagt ctggaatgga cttgaagaat tgaacaatgc catcaaatat
1261 accaaaaatg tagaagttct ccatcttggg aaagtctgga ttccagatga cctgaggaag
1321 agactaaata tagaaatgca tgccgtagtc aggataactc cagtggaagt tacccctaaa
1381 attccaagat ctctaaagtt acaacctaga gagaatttac ctaaagacat aagtgaagaa
1441 gacataaaaa ctgtatttta ttcatggcta cagcagtcta ctaccaccat gcttcctttg
1501 gtaatatcag aggaagaatt tattaagctg gaaactaaag atggactgaa ggaattttct
1561 ctgagtatag ttcattcttg ggaaaaagaa aaagataaaa atatttttct gttgagtccc
1621 aatttgctgc agaagactac aatacaagtc cttctagatc ctatggtaaa agaagaaaac
1681 agtgaggaaa ttgactttat tcttcctttt ttaaagctga gctctttggg aggagtgaat
1741 tccttaggcg tatcctcctt ggagcacatc actcacagcc tcctgggacg ccctttgtct
1801 cggcagctga tgtctcttgt tgcaggactt aggaatggag ctcttttact cacaggagga
1861 aagggaagtg gaaaatcaac tttagccaaa gcaatctgta aagaagcatt tgacaaactg
1921 gatgcccatg tggagagagt tgactgtaaa gctttacgag gaaaaaggct tgaaaacata
1981 caaaaaaccc tagaggtggc tttctcagag gcagtgtgga tgcagccatc tgttgtcctg
2041 ctggatgacc ttgacctcat tgctggactg cctgctgtcc cggaacatga gcacagtcct
2101 gatgcggtgc agagccagcg gcttgctcat gctttgaatg atatgataaa agagtttatc
2161 tccatgggaa gtttggttgc actgattgcc acaagtcagt ctcagcaatc tctacatcct
2221 ttacttgttt ctgctcaagg agttcacata tttcagtgcg tccaacacat tcagcctcct
2281 aatcaggaac aaagatgtga aattctgtgt aatgtaataa aaaataaatt ggactgtgat
2341 ataaacaagt tcaccgatct tgacctgcag catgtagcta aagaaactgg agggtttgtg
2401 gctagagatt ttacagtact tgtggatcga gccatacatt ctcgactctc tcgtcagagt
2461 atatccacca gagaaaaatt agttttaaca acattggact tccaaaaggc tctccgcgga
2521 tttcttcctg cgtctttgcg aagtgtcaac ctgcataaac ctagagacct gggttgggac
2581 aagattggtg ggttacatga agttaggcag atactcatgg atactatcca gttacctgcc
2641 aagtatccag aattatttgc aaacttgccc atacgacaaa gaacaggaat actgttgtat
2701 ggtccgcctg gaacaggaaa aaccttacta gctggggtaa ttgcacgaga gagtagaatg
2761 aattttataa gtgtcaaggg gccagagtta ctcagcaaat acattggagc aagtgaacaa
2821 gctgttcggg atatttttat tagagcacag gctgcaaagc cctgcattct tttctttgat
2881 gaatttgaat ccattgctcc tcggcggggt catgataata caggagttac agaccgagta
2941 gttaaccagt tgctgactca gttggatgga gtagaaggct tacagggtgt ttatgtattg
3001 gctgctacta gtcgccctga cttgattgac cctgccctgc ttaggcctgg tcgactagat
3061 aaatgtgtat actgtcctcc tcctgatcag gtgtcacgtc ttgaaatttt aaatgtcctc
3121 agtgactctc tacctctggc agatgatgtt gaccttcagc atgtagcatc agtaactgac
3181 tcctttactg gagctgatct gaaagcttta ctttacaatg cccaattgga ggccttacat
3241 ggaatgctgc tctcgagtgg actccaggat ggaagttcca gctctgatag tgacctaagt
3301 ctgtcttcaa tggtctttct taaccatagc agtggctctg acgattcagc tggagatgga
3361 gaatgtggct tagatcagtc ccttgtttct ttagagatgt ccgagatcct tccagatgaa
3421 tcaaaattca atatgtaccg gctctacttt ggaagctctt atgaatcaga acttggaaat
3481 ggaacctctt ctgatttgag ctcacaatgt ctctctgcac caagctccat gactcaggat
3541 ttgcctggag ttcctgggaa agaccagttg ttttcacagc ctccagtgtt aaggacagct
3601 tcacaagagg gttgccaaga acttacacaa gaacaaagag atcaactgag ggcagatatc
3661 agtattatca aaggcagata ccggagccaa agtggagagg acgaatccat gaaccaacca
3721 ggaccaatca aaaccagact ggctattagt cagtcacatt taatgactgc acttggtcac
3781 acaagaccat ccattagtga agatgactgg aagaattttg ctgagctata tgaaagcttt
3841 caaaatccaa agaggagaaa aaatcaaagt ggaacaatgt ttcgacctgg acagaaagta
3901 actttagcat aaaatatact tctttttgat ttggttctgt taagtttttt gatggctttt
3961 ccatatgttg taacaggaaa aaaatggtgt ctatgaattt cttcttaatt taacaaattt
4021 ggttaattta taaaatcaca gattggtaaa tgctataatt atgtaatgat caggattgag
4081 attaatactg tagtataaat tgggacatta taacagattc catattttat ttcctaaaat
4141 ctaaattcag tctttaatga aataatatta gccaaatggt ggaactaatt tatttctttt
4201 gaggaaaaga taataaagaa tgtaattaaa tttaaatttc ttggaattcc cagttgtata
4261 ttcatcacct ttgtagcatt tgacaaattt tatgcttagc agcttcttca ctgttttgaa
4321 ataaaatatc ctattaccta ctg
//