LOCUS HUMPEX 2550 bp mRNA linear HUM 10-APR-1997 DEFINITION Human PEX mRNA, complete cds. ACCESSION AD000712 VERSION AD000712.1 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 2550) AUTHORS Grieff,M., Mumm,S., Waeltz,P., Mazzarella,R., Whyte,M.P., Thakker,R.V. and Schlessinger,D. TITLE Expression and cloning of the human X-linked hypophosphatemia gene cDNA JOURNAL Biochem. Biophys. Res. Commun. 231 (3), 635-639 (1997) PUBMED 9070861 COMMENT On Apr 10, 1997 this sequence version replaced gi:1929856. GSDB:S:1154068. FEATURES Location/Qualifiers source 1..2550 /db_xref="H-InvDB:HIT000061553" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="X" /map="Xp22.1" /tissue_type="ovary" gene 1..2550 /gene="PEX" exon 1..277 /gene="PEX" /number=1 misc_feature 21..40 /gene="PEX" /note="encodes hydrophobic domain" misc_feature 54..56 /gene="PEX" /note="encodes conserved cystein" misc_feature 59..61 /gene="PEX" /note="encodes conserved cystein" misc_feature 77..79 /gene="PEX" /note="encodes conserved cystein" misc_feature 85..87 /gene="PEX" /note="encodes conserved cystein" misc_feature 142..144 /gene="PEX" /note="encodes conserved cystein" CDS 160..2409 /gene="PEX" /codon_start=1 /protein_id="AAB51604.1" /translation="MEAETGSSVETGKKANRGTRIALVVFVGGTLVLGTILFLVSQGL LSLQAKQEYCLKPECIEAAAAILSKVNLSVDPCDNFFRFACDGWISNNPIPEDMPSYG VYPWLRHNVDLKLKELLEKSISRRRDTEAIQKAKILYSSCMNEKAIEKADAKPLLHIL RHSPFRWPVLESNIGPEGVWSERKFSLLQTLATFRGQYSNSVFIRLYVSPDDKASNEH ILKLDQATLSLAVREDYLDNSTEAKSYRDALYKFMVDTAVLLGANSSRAEHDMKSVLR LEIKIAEIMIPHENRTSEAMYNKMNISELSAMIPQFDWLGYIKKVIDTRLYPHLKDIS PSENVVVRVPQYFKDLFRILGSERKKTIANYLVWRMVYSRIPNLSRRFQYRWLEFSRV IQGTTTLLPQWDKCVNFIESALPYVVGKMFVDVYFQEDKKEMMEELVEGVRWAFIDML EKENEWMDAGTKRKAKEKARAVLAKVGYPEFIMNDTHVNEDLKAIKFSEADYFGNVLQ TRKYLAQSDFFWLRKAVPKTEWFTNPTTVNAFYSASTNQIRFPAGELQKPFFWGTEYP RSLSYGAIGVIVGHEFTHGFDNNGRKYDKNGNLDPWWSTESEEKFKEKTKCMINQYSN YYWKKAGLNVKGKRTLGENIADNGGLREAFRAYRKWINDRRQGLEEPLLPGITFTNNQ LFFLSYAHVRCNSYRPEAAREQVQIGAHSPPQFRVNGAISNFEEFQKAFNCPPNSTMN RGMDSCRLW" exon 278..376 /gene="PEX" /number=2 exon 377..508 /gene="PEX" /number=3 misc_feature 406..408 /gene="PEX" /note="encodes conserved cystein" exon 509..595 /gene="PEX" /number=4 misc_feature 580..584 /gene="PEX" /note="encodes zinc binding motif" exon 596..822 /gene="PEX" /number=5 misc_feature 617..619 /gene="PEX" /note="encodes conserved cystein" misc_feature 693..695 /gene="PEX" /note="encodes conserved cystein" misc_feature 733..735 /gene="PEX" /note="encodes conserved cystein" misc_feature 746..748 /gene="PEX" /note="encodes conserved cystein" exon 823..891 /gene="PEX" /number=6 exon 892..1008 /gene="PEX" /number=7 exon 1009..1092 /gene="PEX" /number=8 exon 1093..1238 /gene="PEX" /number=9 exon 1239..1332 /gene="PEX" /number=10 exon 1333..1461 /gene="PEX" /number=11 exon 1462..1563 /gene="PEX" /number=12 exon 1564..1641 /gene="PEX" /number=13 exon 1642..1745 /gene="PEX" /number=14 misc_difference 1700 /gene="PEX" /note="polymorphism changes amino acid to Gly" /replace="g" exon 1746..1804 /gene="PEX" /number=15 exon 1805..1859 /gene="PEX" /number=16 exon 1860..1927 /gene="PEX" /number=17 exon 1928..2058 /gene="PEX" /number=18 exon 2059..2124 /gene="PEX" /number=19 exon 2125..2229 /gene="PEX" /number=20 exon 2230..2306 /gene="PEX" /number=21 exon 2307..2550 /gene="PEX" /number=22 BASE COUNT 740 a 539 c 625 g 646 t ORIGIN 1 gagaaagggt ggcgagggga gatttcctga cggcagtttc ttaagctgtc cattagtaga 61 agagcaagag agccttggat gtcaacgcct cgctcttgag accagccacc aaaccacgaa 121 aagtgacttt cttctcgtgt gctctctacg gcccttctga tggaagcaga aacagggagc 181 agcgtggaga ctggaaagaa ggccaacaga ggcactcgaa ttgccctggt cgtgtttgtc 241 ggtggcaccc tagttctggg cacgatcctc tttctagtga gtcaaggtct cttaagtctc 301 caagctaaac aggagtactg cctgaagcca gaatgcatcg aagcggctgc tgccatctta 361 agtaaagtaa atctgtctgt ggatccttgt gataatttct tccggttcgc ttgtgatggc 421 tggataagca ataatccaat tcccgaagat atgccaagct atggggttta tccttggctg 481 agacataatg ttgacctcaa gttgaaggaa cttttggaga aatcaatcag tagaaggcgg 541 gacaccgaag ccatacagaa agccaaaatc ctttattcat cctgcatgaa tgagaaagcg 601 attgaaaaag cagatgccaa gccactgcta cacatcctac ggcattcacc tttccgctgg 661 cccgtgcttg aatctaatat tggccctgaa ggggtttggt cagagagaaa gttcagcctt 721 ctgcagacac ttgcaacgtt tcgtggtcaa tacagcaatt ctgtgttcat ccgtttgtat 781 gtgtcccctg atgacaaagc atccaatgaa catatcttga agctggacca agcaacactc 841 tccctggccg tgagggaaga ctaccttgat aacagtacag aagccaagtc ttatcgggat 901 gccctttaca agttcatggt ggatactgcc gtgcttttag gagctaacag ttccagagca 961 gagcatgaca tgaagtcagt gctcagattg gaaattaaga tagctgagat aatgattcca 1021 catgaaaacc gaaccagcga ggccatgtac aacaaaatga acatttctga actgagtgct 1081 atgattcccc agttcgactg gctgggctac atcaagaagg tcattgacac cagactctac 1141 ccccatctga aagacatcag cccctccgag aatgtggtgg tccgcgtccc gcagtacttt 1201 aaagatttgt ttaggatatt agggtctgag agaaagaaga ccattgccaa ctatttggtg 1261 tggagaatgg tttattccag aattccaaac cttagcaggc gctttcagta tagatggctg 1321 gaattctcaa gggtaatcca ggggaccaca actttgctgc ctcaatggga caaatgtgta 1381 aactttattg aaagtgccct cccttatgtt gttggaaaga tgtttgtaga tgtgtacttc 1441 caggaagata agaaggaaat gatggaggaa ttggttgagg gcgttcgctg ggcctttatt 1501 gacatgctag agaaagaaaa tgagtggatg gatgcaggaa cgaaaaggaa agccaaagaa 1561 aaggcgagag ctgttttggc aaaagttggc tatccagagt ttataatgaa tgatactcat 1621 gttaatgaag acctcaaagc tatcaagttt tcagaagccg actactttgg caacgtccta 1681 caaactcgca agtatttagc acagtctgat ttcttctggc taagaaaagc cgttccaaaa 1741 acagagtggt ttacaaatcc gacgactgtc aatgccttct acagtgcatc caccaaccag 1801 atccgatttc cagcaggaga gctccagaag cctttctttt ggggaacaga atatcctcga 1861 tctctgagtt atggtgctat aggagtaatt gtcggacatg aatttacaca tggatttgat 1921 aataatggta gaaaatatga taaaaatgga aacctggatc cttggtggtc tactgaatca 1981 gaagaaaagt ttaaggaaaa aacaaaatgc atgattaacc agtatagcaa ctattattgg 2041 aagaaagctg gcttaaatgt caaggggaag aggaccctgg gagaaaatat tgctgataat 2101 ggaggcctgc gggaagcttt tagggcttac aggaaatgga taaatgacag aaggcaggga 2161 cttgaggagc ctcttctacc aggcatcaca ttcaccaaca accagctctt cttcctgagt 2221 tatgctcatg tgaggtgcaa ttcctacaga ccagaagctg cccgagaaca agtccaaatt 2281 ggtgctcaca gtccccctca gtttagggtc aatggtgcaa ttagtaactt tgaagaattc 2341 cagaaagctt ttaactgtcc acccaattcc acgatgaaca gaggcatgga ctcctgccga 2401 ctctggtagc tgggacgctg gtttatggca tcctgagaca gttgcacagt gccagcggag 2461 gctgcactga gccttcatcg cccattgctt taggcctgga gactttcatt tttagtgcat 2521 tttcattatt tgggtaggtg acctgcttgg //