LOCUS AH009157 9039 bp DNA linear HUM 10-JUN-2016
DEFINITION Homo sapiens chromosome 6 peroxisomal PTS2 receptor (PEX7) gene,
complete cds.
ACCESSION AH009157 AF180806 AF180807 AF180808 AF180809 AF180810 AF180811
AF180812 AF180813 AF180814 U93918
VERSION AH009157.2
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 1707 to 1967)
AUTHORS Braverman,N., Steel,G., Obie,C., Moser,A., Moser,H., Gould,S.J. and
Valle,D.
TITLE Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible
for rhizomelic chondrodysplasia punctata
JOURNAL Nat. Genet. 15 (4), 369-376 (1997)
PUBMED 9090381
REFERENCE 2 (bases 1 to 9039)
AUTHORS Braverman,N., Steel,G., Lin,P., Moser,A., Moser,H. and Valle,D.
TITLE PEX7 gene structure, alternative transcripts, and evidence for a
founder haplotype for the frequent RCDP allele, L292ter
JOURNAL Genomics 63 (2), 181-192 (2000)
PUBMED 10673331
REFERENCE 3 (bases 1707 to 1967)
AUTHORS Braverman,N., Steel,G. and Valle,D.
TITLE Direct Submission
JOURNAL Submitted (17-MAR-1997) Pediatrics, Johns Hopkins Medical Center,
725 North Wolfe Street, Baltimore, MD 21205, USA
REFERENCE 4 (bases 1 to 9039)
AUTHORS Braverman,N., Steel,G., Lin,P., Moser,A., Moser,H. and Valle,D.
TITLE Direct Submission
JOURNAL Submitted (25-AUG-1999) Pediatrics, Johns Hopkins Medical Center,
725 North Wolfe Street, Baltimore, MD 21205, USA
COMMENT On or before Jun 10, 2016 this sequence version replaced
AF180806.1, AF180807.1, AF180808.1, AF180809.1, AF180810.1,
AF180811.1, AF180812.1, AF180813.1, AF180814.1, AH009157.1.
FEATURES Location/Qualifiers
source 1..9039
/organism="Homo sapiens"
/mol_type="genomic DNA"
/db_xref="taxon:9606"
/chromosome="6"
/map="6q22-q24"
gene <2016..>8271
/gene="PEX7"
mRNA join(<2016..2145,3461..3518,4198..4348,4651..4728,
5110..5218,5722..5828,6191..6304,6679..6734,7491..7590,
8203..>8271)
/gene="PEX7"
/product="peroxisomal PTS2 receptor"
CDS join(2016..2145,3461..3518,4198..4348,4651..4728,
5110..5218,5722..5828,6191..6304,6679..6734,7491..7590,
8203..8271)
/gene="PEX7"
/note="Pex7p"
/codon_start=1
/product="peroxisomal PTS2 receptor"
/protein_id="AAF37350.1"
/translation="MSAVCGGAARMLRTPGRHGYAAEFSPYLPGRLACATAQHYGIAG
CGTLLILDPDEAGLRLFRSFDWNDGLFDVTWSENNEHVLITCSGDGSLQLWDTAKAAG
PLQVYKEHAQEVYSVDWSQTRGEQLVVSGSWDQTVKLWDPTVGKSLCTFRGHESIIYS
TIWSPHIPGCFASASGDQTLRIWDVKAAGVRIVIPAHQAEILSCDWCKYNENLLVTGA
VDCSLRGWDLRNVRQPVFELLGHTYAIRRVKFSPFHASVLASCSYDFTVRFWNFSKPD
SLLETVEHHTEFTCGLDFSLQSPTQVADCSWDETIKIYDPACLTIPA"
exon <2016..2145
/gene="PEX7"
/number=1
gap 2721..2820
/estimated_length=unknown
exon 3461..3518
/gene="PEX7"
/number=2
gap 4033..4132
/estimated_length=unknown
exon 4198..4348
/gene="PEX7"
/number=3
gap 4477..4576
/estimated_length=unknown
exon 4651..4728
/gene="PEX7"
/number=4
exon 5110..5218
/gene="PEX7"
/number=5
gap 5269..5368
/estimated_length=unknown
exon 5722..5828
/gene="PEX7"
/number=6
gap 6014..6113
/estimated_length=unknown
exon 6191..6304
/gene="PEX7"
/number=7
gap 6406..6505
/estimated_length=unknown
exon 6679..6734
/gene="PEX7"
/number=8
gap 6901..7000
/estimated_length=unknown
exon 7491..7590
/gene="PEX7"
/number=9
gap 8045..8144
/estimated_length=unknown
exon 8203..>8271
/gene="PEX7"
/number=10
BASE COUNT 2212 a 1642 c 1673 g 2712 t
ORIGIN
1 tgtatggtta ggtaaggagc aggtaatagc tcagtttgtg tgtgtgtgtg tatgtccaag
61 gtcactgtaa atagtttacc ccagctggaa ccagcctttc tccctcccag agataccaca
121 ctatttttag cttagattgg ataactcttt atatacaact ctttgccaag gtcccagctg
181 cttcatgttt gcttactttg atattttatt aacgcctatt tagcatttca ataaactcca
241 gaatgtttcc aggttacttt ttgtagtatt acgaaaaaca cactgatcat ttaggcactg
301 tattaggctg cattcactca acatttcctg aatgcttaaa taccaggtcc ttgggataca
361 acagcgaaca taacaagcaa aaatttctgc cctcatgcag catacattcc agtgactaca
421 tatgataaaa atccaaaaat aatagaggcc acactggtct ggatcctcaa gtgatccgcc
481 tgcctcgggc ttcctagtgt gctgggatta caggtgtgaa ccaccgcgcc cgggcctgca
541 aaagtctttt aactggcctc cccatctcca aactctatcc tccatattag tgttgcagga
601 ctttttaaaa taaaaccttg gtcatttaat ttctcacatt agaaaacttc cactgttttt
661 cactgtttac agtagaaatc caattctctt agtatggtat ataagactct tcatgatcta
721 gccccagtaa aacactctac agtctcccca cccaatattt ttttcaccgt atcccttcca
781 tctggccagg ctgagtcctg gcagccacga ccccctatgg atcatgctgg tttaaatctc
841 ctgggttgct catgttattc ctgctcctac aaagatctcc atcttcttgt ctacctaaag
901 aaaacctact catctgtgtg caatcaccat aaagacttat ctctcttctg cagcctttcc
961 tgcaatttcc atacctctgg cacggacaat caccttttaa aaatacccca tataaattta
1021 tcatagcctc tacagtattt tgattacact taactaatta catgacttct cttttagtct
1081 tcttctctaa tctcttgagg ccatggacca tatcccatta ttttgaatcc caaatgccta
1141 gtactgttct tggtatatgg ttaagatgat catacgactt ggtttgtgcc tgttgacctg
1201 gcttaataat tacaccctct ttactctcaa aagtatcttg gtttggcaga taaattatat
1261 ttggtcattc tccacatagt atatgcctgg caataaatga atgaatgagc accagcatct
1321 gagcacttat taccatacaa tatatacatg tatagtaata ctttttaaaa aagttgtata
1381 tgatgatgtg ctgctttttt gcttagcttc attagaactg gccagctcct ttttctcact
1441 tgccaagcat ggggagttgg tttggagttg gtgtttcatc ttttccagtt acagtgtgaa
1501 agtagcccac cagcccacgc tcttattcct aaagaccgca gtgactccac ggacttaagt
1561 tctcattgct tccagtttcc ttgggcaacg cagcacgcaa ttttggacgc gctgcgtggt
1621 ttcagagtcg gctgtaactt ttctcacttt ataatcatca ggaaaagttc ctgatgccag
1681 tcttccaaac gctcaatgaa ataaaaaccg cagaggattc tgagatgcaa cgacaaaagc
1741 tgtcgtaatt attaataata cctaaccctg gatcactccc ctgatagatc tgtatctttg
1801 cagcaggcgc aattcagttt ggattcaccc aaaacaaaaa tggtctccgt cggagtcaac
1861 gccctttcct gtgcggacca atcagaatct caaacacagg gcacggggcc cacacttccg
1921 tccggtctgc ctggtctctc taaccgcgcc agtgtgcctc cgactcggaa cggcttccgc
1981 ggccggggca gcgagggccg ggggcggcgg gcgggatgag tgcggtgtgc ggtggagcgg
2041 cgcggatgct gcggacgccg ggacgccacg gctacgccgc cgagttctcc ccgtacctgc
2101 cgggccgcct ggcctgcgcc accgcgcagc actacggcat cgcgggtgag gcggcgccgc
2161 gcagctgggg ccggggggcg gaagcggaag cgggggccaa ccgggctcca gttcctcgct
2221 cgagggaaag cccctctgag cgtagacggt tccgcgggtc cacgccaggg ggcagaagag
2281 gcgctggtcg gcgcttctcc tttctttgcc gagtgcgagg agttggtctg aagcaggagt
2341 cgatcttcca gttgtgtgca agtgcatata cgtgtagcct agtagcccgt gtccttgttc
2401 cttgagaccg cgctgcctcc gccacgtgtc acacgcccag gcacacgtcc ccgtagggag
2461 agccggggga gcctgcgcgg tcccttggat cggtccgctc ggcacagcag tacggggaag
2521 acggtctgag ccagaaccga cccagggctc gcgagttggc ccacaattcc cagtctgcat
2581 tcgagcactg agctgcgacc tgcgggctgg ccttcctaag ggacgatgct cctgaatgga
2641 cgcctggagt cccacgggtg acaccatgaa atatatcaag ttcagttctt acctgtagtt
2701 gtctaacgag gaatgcacac nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
2761 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
2821 ttcatgttaa atagaagaga ttttccccct tgtctctata aaaagtaaac ataactttta
2881 aaaacaatgg ccctttggta aaatatcttt gacaggtaac atattaatac tgttttcagc
2941 actttattac caccagttat gtagtaaatc ccaccaagta tctccgcatt catattttgt
3001 tttaaaatcc ctgtgtgaga tgtgttttag atttactggt gaggagtgca gtccctgggg
3061 tctgtaagcc agaggtttct catctgtcag taggaatgat aacaccaact tggaaggttt
3121 gtgtctctgg tgccttgtct ggctacagag taggccctta agtatttcac ccccctgtta
3181 ggtccatgtc tgaattccaa tcataggtgc aatgggaagt tgaatattta gtaactgaag
3241 tacaatatgg aaaaacagaa atagagaaca catttggtat tcatgtccca aaaactttag
3301 ggagaaattg atcacctgac catttggtat tcaaggtccc aaatactttg gggaaaaatt
3361 tgtggtatta aaatcaggta tcaattactt gataactcct tgactttcga tgttaccctg
3421 gcaggttcaa agggatgacc ttgatttttt ttctctttag gctgtggaac cctactaata
3481 ttggatccag atgaagctgg gctaaggctt tttagaaggt aagggggctg aaattattaa
3541 aggtatatat tgttgctatt aaagccttaa tagaattagg ttttgactct ttgattaatg
3601 ttttaatata cagtataaaa ggaaccttgg cgtttgcata ggatgaagct tatttttagc
3661 tgattgtggt ggtgcgcacc tgtagtccca gctattccca agtctgaggc agaaggatca
3721 cttgaggccg ggagttcaag accagcctcg tgggcaacat aggaggaccc cgtctctaaa
3781 agaaattttt tttttttatg cacagagtct ggctctgtca cccaggctgg agtacagtgg
3841 cgccatcttg gctcagtgca gtcttccccc tcctgggttc aagtgattct cctgcctcag
3901 cctcccaagt agctgggatt atagggtgcc cgccaccaca cccgggtaat ttttgtattt
3961 tttagtagag atgggtttca tcattttggc caggctggtc tcaaactcct gaactcaggt
4021 gatctgccca ccnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
4081 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nntttttgtt
4141 gtgtagctgc ctatgtaagt gttgtatttt tttgttgttt gttttttcct agtgtagctt
4201 tgactggaat gatggtttgt ttgatgtgac ttggagtgag aacaacgaac atgtcctcat
4261 cacctgtagt ggcgatggct cgctgcagct ctgggacact gccaaagctg cagggccact
4321 gcaagtctat aaagaacacg ctcaggaggt aggagggaaa tctttctggg ctgattattt
4381 ttctttcttc gactttggtt gaaatccatt tggggatgga cacatggaga atatcttcag
4441 ggacaagtta acgtagcatt ctatactact agatgtnnnn nnnnnnnnnn nnnnnnnnnn
4501 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
4561 nnnnnnnnnn nnnnnnatat aacaagagat gaaaatgcaa tgttgaactt gatggtcttt
4621 tgctttctaa acacttttca atgtttttag gtgtatagtg ttgattggag ccaaaccaga
4681 ggtgaacagc ttgtggtgtc tggctcatgg gatcaaactg tcaaattggt atgttagcat
4741 tattgtattc aaaaacgaat attcccttct ctagagcttc cactaaattt tcttctcttt
4801 ttccaacata cttctgtagc tctatgattc gacagctgag ctttctttta aaaaaaaaaa
4861 ttaaaacact tattagaact taaaattttc taatcttttg gctgtgaact aatagttagc
4921 tcagcattag tttggccctt aaatacagtc ttgctttata tcaaaacaga tctttaaaaa
4981 tccttgagat ctgtatatat attgtatgca tatatataaa tgtatatagt ttattggtgt
5041 atgtagtata tgtaaaagca taaatttgaa tttatccctc aagtaattga tctattcatt
5101 tatttgtagt gggatccaac tgttggaaag tctctgtgca cctttagagg ccatgaaagt
5161 attatttata gcacaatctg gtctccccac atccctggtt gttttgcttc agcctcaggt
5221 aaattatcct gtatttagca aaagccttac ttgtagtgaa tggtggccnn nnnnnnnnnn
5281 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
5341 nnnnnnnnnn nnnnnnnnnn nnnnnnnntt ctagtacaat acactggtac agagtgatca
5401 ctttatttcc taacacgaga attttcaggg cctttcctgc ctcgaacaca caccagctgt
5461 gtgtttagtc aatactgtgt ttatctcagc gtgagattca aattttcctc ctaatagcat
5521 tatcacggtg caacgtcact tttgtattcc ttcatttgaa tagatcctat acattattat
5581 ggtttaaaaa ataagtctaa aggtggcaat atcctaacac tgaaagcagt gtattttact
5641 tgacttatta ttgtgaacac attatgtcac tgcacattca agtggtgtga tgggaaatga
5701 tcaagtcttc ctttttacta ggtgatcaga ctctgagaat atgggatgtg aaggcagcag
5761 gagtaagaat cgtgattcct gcacatcagg cagaaatctt gagttgtgac tggtgtaaat
5821 acaatgaggt atagtgtatg gctctatcct atgctgctgt ccttcctaat gttaaaatgt
5881 tctgaatttt atttgtcttt gtttatgtgg actttggtgg tgcttcctgg accattaagt
5941 taaattcctg ctccctttcc ctttctaatt aatgattgtg acgtaccgtc aattagcatt
6001 aattggattt aagnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
6061 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnttgtttc
6121 tagtaggaaa gcctgcatac tgtttaattg caaagatgtc acagtttatg tttctctgaa
6181 ttgtttttag aatttgctgg tgaccggggc ggttgactgt agtttgagag gctgggactt
6241 aaggaatgta cgacaaccag tgtttgaact tcttggtcat acctatgcta ttaggagggt
6301 gaaagtaagt tttcatcttt tcttttatat gtagaataaa attatataaa tataatcaat
6361 gaagtgtata ttaaaaagtg ttctgggttt agggattgga gttacnnnnn nnnnnnnnnn
6421 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
6481 nnnnnnnnnn nnnnnnnnnn nnnnngagat tttgcctcaa attatagcat atatgccttt
6541 gaaaaaacgg ataattttaa gtgacagctg ctgactcaac ggaaatttat tataatgttt
6601 atggaatgat catagaaagc agtgttataa tcacagctga cttcaaaaag ggtttttttt
6661 ttcttttttt ttttgtagtt ttcaccattt catgcttctg tgctggcctc ttgctcgtat
6721 gattttactg taaggtacag tggtttttaa tacatttcat tgtgaaatac caggtaacat
6781 ttgcatcttt gcaactttta taagagataa tatgattact cttactaaca tgaaaataat
6841 ctgagatggg tacatttaaa tatttactag gattaatatt aatattttct gtttcgtgac
6901 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
6961 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn ggaattctaa ttgctgtgaa
7021 atttaaatta agcctaagat ctttcatgtc aattgttgag aaatgaagtc atatttaaaa
7081 tcacaaaatg ttagagttca tttaattcaa tatccttatt ttatagccat gaatgctttt
7141 agaaattgct acaaaagcat actatcatct caatgtcctt gtgcaatata aaaacatttt
7201 ttaaattaaa acttgttaag cttctgtcct aaaaggtata ctaatgggag tagaataatt
7261 tttatagggt agattgatgt agggtttttt ttttatatat ataataggat ggagtacttt
7321 tttttcttat tggatttttt acgtagggct taatagtggg gttctgtatt tatgaattgg
7381 ctgagcctgt ttggataaaa tctttgctat gtcaaatatc tattttttct taatataagt
7441 tttttggtag ttttagcatt taaattattc ccttttattt atcttcacag attctggaac
7501 ttttcaaagc ctgactctct tcttgaaaca gtggagcatc atacagagtt tacttgtggt
7561 ttagacttca gtcttcagag ccccactcag gtaacggata caatctcatg atattctctt
7621 ctgcccaagt tcacagccaa ctctgtgtgg catgcattgc ttttatgaat aaaattgttg
7681 ccattttagc tatataagct ggagcgtttg agcattaaac tactagggaa taagaggtat
7741 caagaaagtt gacatacctt tctcctcttg aaagactgat ttccctgaga gaaaaaggaa
7801 ccttcccagg aggtattatc ctaacatttt aaaggctttc tctaggcctc tcccaacaga
7861 aaagtgacaa gagaaagatg gaatatggca ggattgtcgc cacgggttgg caggagtcag
7921 gagcatgtgg tcctgactca gctgtcccat taggcagttg agaccatggg caggcaggtc
7981 actacccttt caagactgtc acccttgtct tcacaccacg tgtcgaatgg gaagcttctg
8041 atggnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
8101 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnntcaatt tgaattttgt
8161 atgtctaaat acgtttcttc ttacttcatt tttgttttct aggtggctga ctgttcttgg
8221 gatgaaacaa taaagatcta tgaccctgct tgtcttacta ttcctgcttg agatacacta
8281 ctttggtcag aaacagagga tgttggctga agaactgcct aacagcaaat aaattaacta
8341 tggaaaacat agacattatg cttttatatg ctattcagat ttcaaatctt tccaatttac
8401 cctggaatca gttttgaggg agctgataaa gactttagct gactcgttaa gcctgataca
8461 taagccatat ttaaaattct aagaaataat taatgttatg atatatcttg tagtatctat
8521 taaaatgtct ctgggtcata aaatggatta aaatatggga gatcagtagg ttatacttat
8581 atagatagtg atatatttca tttttaattt gtcatttttg atgtaaaata taatcacttc
8641 tgtgataaat aaactatcta ttgatcattt atcattttat aacttccccc aaaagactgc
8701 tctttctaat acattgtata tgtgaatata gtactatata taatatatag atatatctgt
8761 ggttcagtaa caggacacta aaatatattt aatttattct tttatttagt agctgtttat
8821 tgagcatcta ctcagtgctt gacacataga ctaaatgaga ttctgtcaag gactggtgcc
8881 atgtttttaa gaacatggaa tgctgtgagc taagagctta cttttttttt ttttttagaa
8941 tttattcaca cctttttaga tattgtaccc atgactctat ttttgtcttc ccacctctct
9001 aatatcaaaa tttttttaaa ctgtcaatta aaccaaaag
//