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
//