LOCUS       AY372521                1281 bp    mRNA    linear   HUM 31-DEC-2003
DEFINITION  Homo sapiens hemochromatosis type 2 juvenile protein precursor
            isoform a (HFE2) mRNA, complete cds.
ACCESSION   AY372521
VERSION     AY372521.1
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 1281)
  AUTHORS   Papanikolaou,G., Samuels,M.E., Ludwig,E.H., MacDonald,M.L.,
            Franchini,P.L., Dube,M.P., Andres,L., MacFarlane,J.,
            Sakellaropoulos,N., Politou,M., Nemeth,E., Thompson,J.,
            Risler,J.K., Zaborowska,C., Babakaiff,R., Radomski,C.C., Pape,T.D.,
            Davidas,O., Christakis,J., Brissot,P., Lockitch,G., Ganz,T.,
            Hayden,M.R. and Goldberg,Y.P.
  TITLE     Mutations in HFE2 cause iron overload in chromosome 1q-linked
            juvenile hemochromatosis
  JOURNAL   Nat. Genet. 36 (1), 77-82 (2004)
   PUBMED   14647275
REFERENCE   2  (bases 1 to 1281)
  AUTHORS   Ludwig,E.H., MacDonald,M.L., Franchini,P.L., Dube,M.-P., Andres,L.,
            MacFarlane,J., Thompson,J., Risler,J., Zaborowska,C., Babakaiff,R.,
            Radomski,C.C., Hayden,M.R., Samuels,M.E. and Goldberg,P.
  TITLE     Direct Submission
  JOURNAL   Submitted (21-AUG-2003) Xenon Genetics, Inc., 3650 Gilmore Way,
            Burnaby, BC V5G 4W8, Canada
COMMENT     Transcript Variant: This variant (1) encodes the longest isoform.
FEATURES             Location/Qualifiers
     source          1..1281
                     /db_xref="H-InvDB:HIT000253320"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21"
                     /sex="male"
                     /tissue_type="liver"
                     /dev_stage="adult"
     gene            1..1281
                     /gene="HFE2"
                     /gene_synonym="HFE2A"
                     /gene_synonym="JH"
     CDS             1..1281
                     /gene="HFE2"
                     /gene_synonym="HFE2A"
                     /gene_synonym="JH"
                     /note="transcript variant 1"
                     /codon_start=1
                     /product="hemochromatosis type 2 juvenile protein
                     precursor isoform a"
                     /protein_id="AAR22390.1"
                     /translation="MGEPGQSPSPRSSHGSPPTLSTLTLLLLLCGHAHSQCKILRCNA
                     EYVSSTLSLRGGGSSGALRGGGGGGRGGGVGSGGLCRALRSYALCTRRTARTCRGDLA
                     FHSAVHGIEDLMIQHNCSRQGPTAPPPPRGPALPGAGSGLPAPDPCDYEGRFSRLHGR
                     PPGFLHCASFGDPHVRSFHHHFHTCRVQGAWPLLDNDFLFVQATSSPMALGANATATR
                     KLTIIFKNMQECIDQKVYQAEVDNLPVAFEDGSINGGDRPGGSSLSIQTANPGNHVEI
                     QAAYIGTTIIIRQTAGQLSFSIKVAEDVAMAFSAEQDLQLCVGGCPPSQRLSRSERNR
                     RGAITIDTARRLCKEGLPVEDAYFHSCVFDVLISGDPNFTVAAQAALEDARAFLPDLE
                     KLHLFPSDAGVPLSSATLLAPLLSGLFVLWLCIQ"
     sig_peptide     1..105
                     /gene="HFE2"
                     /gene_synonym="HFE2A"
                     /gene_synonym="JH"
     misc_feature    292..300
                     /gene="HFE2"
                     /gene_synonym="HFE2A"
                     /gene_synonym="JH"
                     /note="Region: RGD motif"
     misc_feature    499..759
                     /gene="HFE2"
                     /gene_synonym="HFE2A"
                     /gene_synonym="JH"
                     /note="Region: von Willebrand factor type D domain"
     misc_feature    514..519
                     /gene="HFE2"
                     /gene_synonym="HFE2A"
                     /gene_synonym="JH"
                     /note="similar to chick RGM cleavage site"
     misc_feature    1003..1008
                     /gene="HFE2"
                     /gene_synonym="HFE2A"
                     /gene_synonym="JH"
                     /note="putative furin cleavage site"
     misc_feature    1198..1200
                     /gene="HFE2"
                     /gene_synonym="HFE2A"
                     /gene_synonym="JH"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="GPI cleavage/attachment omega-site"
     misc_feature    1207..1275
                     /gene="HFE2"
                     /gene_synonym="HFE2A"
                     /gene_synonym="JH"
                     /note="Region: transmembrane domain; helix secondary
                     structure"
BASE COUNT          235 a          404 c          339 g          303 t
ORIGIN      
        1 atgggggagc caggccagtc ccctagtccc aggtcctccc atggcagtcc cccaactcta
       61 agcactctca ctctcctgct gctcctctgt ggacatgctc attctcaatg caagatcctc
      121 cgctgcaatg ctgagtacgt atcgtccact ctgagcctta gaggtggggg ttcatcagga
      181 gcacttcgag gaggaggagg aggaggccgg ggtggagggg tgggctctgg cggcctctgt
      241 cgagccctcc gctcctatgc gctctgcact cggcgcaccg cccgcacctg ccgcggggac
      301 ctcgccttcc attcggcggt acatggcatc gaagacctga tgatccagca caactgctcc
      361 cgccagggcc ctacagcccc tcccccgccc cggggccccg cccttccagg cgcgggctcc
      421 ggcctccctg ccccggaccc ttgtgactat gaaggccggt tttcccggct gcatggtcgt
      481 cccccggggt tcttgcattg cgcttccttc ggggaccccc atgtgcgcag cttccaccat
      541 cactttcaca catgccgtgt ccaaggagct tggcctctac tggataatga cttcctcttt
      601 gtccaagcca ccagctcccc catggcgttg ggggccaacg ctaccgccac ccggaagctc
      661 accatcatat ttaagaacat gcaggaatgc attgatcaga aggtgtatca ggctgaggtg
      721 gataatcttc ctgtagcctt tgaagatggt tctatcaatg gaggtgaccg acctggggga
      781 tccagtttgt cgattcaaac tgctaaccct gggaaccatg tggagatcca agctgcctac
      841 attggcacaa ctataatcat tcggcagaca gctgggcagc tctccttctc catcaaggta
      901 gcagaggatg tggccatggc cttctcagct gaacaggacc tgcagctctg tgttgggggg
      961 tgccctccaa gtcagcgact ctctcgatca gagcgcaatc gtcggggagc tataaccatt
     1021 gatactgcca gacggctgtg caaggaaggg cttccagtgg aagatgctta cttccattcc
     1081 tgtgtctttg atgttttaat ttctggtgat cccaacttta ccgtggcagc tcaggcagca
     1141 ctggaggatg cccgagcctt cctgccagac ttagagaagc tgcatctctt cccctcagat
     1201 gctggggttc ctctttcctc agcaaccctc ttagctccac tcctttctgg gctctttgtt
     1261 ctgtggcttt gcattcagta a
//