LOCUS HSU60475 1916 bp mRNA linear HUM 20-JUL-2016 DEFINITION Homo sapiens metalloendopeptidase homolog (PHEX) mRNA, partial cds. ACCESSION U60475 S79637 VERSION U60475.1 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 1916) AUTHORS Francis,F., Hennig,S., Korn,B., Reinhardt,R., de Jong,P., Poustka,A., Lehrach,H., Rowe,P.S.N., Goulding,J.N., Summerfield,T., Mountford,R., Read,A.P., Popowska,E., Pronicka,E., Davies,K.E., ORiordan,J.L.H., Econs,M.J., Nesbitt,T., Drezner,M.K., Oudet,C., Pannetier,S., Hanauer,A., Strom,T.M., Meindl,A., Lorenz,B., Cagnoli,M., Mohnike,K.L., Murken,J. and Meitinger,T. TITLE A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium JOURNAL Nat. Genet. 11 (2), 130-136 (1995) PUBMED 7550339 REFERENCE 2 (bases 1 to 1916) AUTHORS Lehrach,H. TITLE Direct Submission JOURNAL Submitted (11-JUN-1996) H. Lehrach, Max-Planck Institut fuer Molekulare Genetik, Berlin, 14195, Germany COMMENT On Sep 24, 1998 this sequence version replaced gi:1168159. FEATURES Location/Qualifiers source 1..1916 /db_xref="H-InvDB:HIT000220636" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" gene <1..>1916 /gene="PHEX" CDS <1..>1916 /gene="PHEX" /note="X-linked hypophosphatemic rickets candidate gene product" /codon_start=3 /product="metalloendopeptidase homolog" /protein_id="AAC50552.1" /translation="ETGSSVETGKKANRGTRIALVVFVGGTLVLGTILFLVSQGLLSL QAKQEYCLKPECIEAAAAILSKVNLSVDPCDNFFRFACDGWISNNPIPEDMPSYGVYP WLRHNVDLKLKELLEKSISRRRDTEAIQKAKILYSSCMNEKAIEKADAKPLLHILRHS PFRWPVLESNIGPEGVWSERKFSLLQTLATFRGQYSNSVFIRLYVSPDDKASNEHILK LDQATLSLAVREDYLDNSTEAKSYRDALYKFMVDTAVLLGANSSRAEHDMKSVLRLEI KIAEIMIPHENRTSEAMYNKMNISELSAMIPQFDWLGYIKKVIDTRLYPHLKDISPSE NVVVRVPQYFKDLFRILGSERKKTIDNYLVWRMVYSRIPNLSRRFQYRWLEFSRVIQG TTTLLPQRDKCVNFIESALPYVVGKMFVDVYFQEDKKEMMEELVEGVRWAFIDMLEKE NEWMDAGTKRKAKEKARAVLAKVGYPEFIMNDTHVNEDLKAIKFSEADYFGNVLQTRK YLAQSDFFWLRKAVPKTEWFTNPTTVNAFYSASTNQIRFPAGELQKPFFWGTEYPRSL SYGAIGVIVGHEFTHGFDNNGRKYDKNGNLDPWWSTESEEKFKEKTKCMINQYSNYYW KKAGLNVKGKRTLA" BASE COUNT 582 a 389 c 462 g 483 t ORIGIN 1 cagaaacagg gagcagcgtg gagactggaa agaaggccaa cagaggcact cgaattgccc 61 tggtcgtgtt tgtcggtggc accctagttc tgggcacgat cctctttcta gtgagtcaag 121 gtctcttaag tctccaagct aaacaggagt actgcctgaa gccagaatgc atcgaagcgg 181 ctgctgccat cttaagtaaa gtaaatctgt ctgtggatcc ttgtgataat ttcttccggt 241 tcgcttgtga tggctggata agcaataatc caattcccga agatatgcca agctatgggg 301 tttatccttg gctgagacat aatgttgacc tcaagttgaa ggaacttttg gagaaatcaa 361 tcagtagaag gcgggacacc gaagccatac agaaagccaa aatcctttat tcatcctgca 421 tgaatgagaa agcgattgaa aaagcagatg ccaagccact gctacacatc ctacggcatt 481 cacctttccg ctggcccgtg cttgaatcta atattggccc tgaaggggtt tggtcagaga 541 gaaagttcag ccttctgcag acacttgcaa cgtttcgtgg tcaatacagc aattctgtgt 601 tcatccgttt gtatgtgtcc cctgatgaca aagcatccaa tgaacatatc ttgaagctgg 661 accaagcaac actctccctg gccgtgaggg aagactacct tgataacagt acagaagcca 721 agtcttatcg ggatgccctt tacaagttca tggtggatac tgccgtgctt ttaggagcta 781 acagttccag agcagagcat gacatgaagt cagtgctcag attggaaatt aagatagctg 841 agataatgat tccacatgaa aaccgaacca gcgaggccat gtacaacaaa atgaacattt 901 ctgaactgag tgctatgatt ccccagttcg actggctggg ctacatcaag aaggtcattg 961 acaccagact ctacccccat ctgaaagaca tcagcccctc cgagaatgtg gtggtccgcg 1021 tcccgcagta ctttaaagat ttgtttagga tattagggtc tgagagaaag aagaccattg 1081 acaactattt ggtgtggaga atggtttatt ccagaattcc aaaccttagc aggcgctttc 1141 agtatagatg gctggaattc tcaagggtaa tccaggggac cacaactttg ctgcctcaaa 1201 gggacaaatg tgtaaacttt attgaaagtg ccctccctta tgttgttgga aagatgtttg 1261 tagatgtgta cttccaggaa gataagaagg aaatgatgga ggaattggtt gagggcgttc 1321 gctgggcctt tattgacatg ctagagaaag aaaatgagtg gatggatgca ggaacgaaaa 1381 ggaaagccaa agaaaaggcg agagctgttt tggcaaaagt tggctatcca gagtttataa 1441 tgaatgatac tcatgttaat gaagacctca aagctatcaa gttttcagaa gccgactact 1501 ttggcaacgt cctacaaact cgcaagtatt tagcacagtc tgatttcttc tggctaagaa 1561 aagccgttcc aaaaacagag tggtttacaa atccgacgac tgtcaatgcc ttctacagtg 1621 catccaccaa ccagatccga tttccagcag gagagctcca gaagcctttc ttttggggaa 1681 cagaatatcc tcgatctctg agttatggtg ctataggagt aattgtcgga catgaattta 1741 cacatggatt tgataataat ggtagaaaat atgataaaaa tggaaacctg gatccttggt 1801 ggtctactga atcagaagaa aagtttaagg aaaaaacaaa atgcatgatt aaccagtata 1861 gcaactatta ttggaagaaa gctggcttaa atgtcaaggg gaagaggacc ctggcg //