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
//