LOCUS       AJ249335                1280 bp    mRNA    linear   HUM 07-OCT-2008
DEFINITION  Homo sapiens mRNA for hemochromatosis protein (HFE gene) splice
            variant 1.
ACCESSION   AJ249335
VERSION     AJ249335.1
KEYWORDS    alternative splicing; hemochromatosis protein; HFE gene.
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 1280)
  AUTHORS   Oliva R.
  JOURNAL   Submitted (06-SEP-1999) to the INSDC. Oliva R., Faculty of Medicine
            and Clinic Hospital, Human Genome Research Group, Casanova 143,
            08036, SPAIN.
REFERENCE   2
  AUTHORS   Sanchez M., Bruguera M., Rodos J., Oliva R.
  TITLE     Complete characterization of the 3' region of the human and mouse
            hereditary hemochromatosis HFE gene and detection of novel splicing
            forms
  JOURNAL   Blood Cells Mol. Dis. 27(1), 35-43(2001).
   PUBMED   11358357
FEATURES             Location/Qualifiers
     source          1..1280
                     /db_xref="H-InvDB:HIT000245921"
                     /organism="Homo sapiens"
                     /chromosome="6"
                     /map="6p22"
                     /mol_type="mRNA"
                     /cell_line="HepG2"
                     /db_xref="taxon:9606"
     CDS             161..1138
                     /gene="HFE"
                     /product="hemochromatosis protein"
                     /function="iron metabolism"
                     /note="alternative splicing form with deletion of first 69
                     pb of exon 2"
                     /db_xref="GOA:Q30201"
                     /db_xref="H-InvDB:HIT000245921.14"
                     /db_xref="HGNC:HGNC:4886"
                     /db_xref="InterPro:IPR001039"
                     /db_xref="InterPro:IPR003006"
                     /db_xref="InterPro:IPR003597"
                     /db_xref="InterPro:IPR007110"
                     /db_xref="InterPro:IPR011161"
                     /db_xref="InterPro:IPR011162"
                     /db_xref="InterPro:IPR013783"
                     /db_xref="InterPro:IPR031092"
                     /db_xref="InterPro:IPR036179"
                     /db_xref="InterPro:IPR037055"
                     /db_xref="PDB:1A6Z"
                     /db_xref="PDB:1C42"
                     /db_xref="PDB:1DE4"
                     /db_xref="UniProtKB/Swiss-Prot:Q30201"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /protein_id="CAC67792.1"
                     /translation="MGPRARPALLLLMLLQTAVLQGRLLPLGYVDDQLFVFYDHESRR
                     VEPRTPWVSSRISSQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILGCE
                     MQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEPRAWPTKLEWERHKIRARQNRAYL
                     ERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWLK
                     DKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEP
                     SPSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHYVLAERE"
BASE COUNT          311 a          314 c          371 g          284 t
ORIGIN      
        1 ctaaagttct gaaagacctg ttgcttttca ccaggaagtt ttactgggca tctcctgagc
       61 ctaggcaata gctgtagggt gacttctgga gccatccccg tttccccgcc ccccaaaaga
      121 agcggagatt taacggggac gtgcggccag agctggggaa atgggcccgc gagccaggcc
      181 ggcgcttctc ctcctgatgc ttttgcagac cgcggtcctg caggggcgct tgctgccttt
      241 gggctacgtg gatgaccagc tgttcgtgtt ctatgatcat gagagtcgcc gtgtggagcc
      301 ccgaactcca tgggtttcca gtagaatttc aagccagatg tggctgcagc tgagtcagag
      361 tctgaaaggg tgggatcaca tgttcactgt tgacttctgg actattatgg aaaatcacaa
      421 ccacagcaag gagtcccaca ccctgcaggt catcctgggc tgtgaaatgc aagaagacaa
      481 cagtaccgag ggctactgga agtacgggta tgatgggcag gaccaccttg aattctgccc
      541 tgacacactg gattggagag cagcagaacc cagggcctgg cccaccaagc tggagtggga
      601 aaggcacaag attcgggcca ggcagaacag ggcctacctg gagagggact gccctgcaca
      661 gctgcagcag ttgctggagc tggggagagg tgttttggac caacaagtgc ctcctttggt
      721 gaaggtgaca catcatgtga cctcttcagt gaccactcta cggtgtcggg ccttgaacta
      781 ctacccccag aacatcacca tgaagtggct gaaggataag cagccaatgg atgccaagga
      841 gttcgaacct aaagacgtat tgcccaatgg ggatgggacc taccagggct ggataacctt
      901 ggctgtaccc cctggggaag agcagagata tacgtgccag gtggagcacc caggcctgga
      961 tcagcccctc attgtgatct gggagccctc accgtctggc accctagtca ttggagtcat
     1021 cagtggaatt gctgtttttg tcgtcatctt gttcattgga attttgttca taatattaag
     1081 gaagaggcag ggttcaagag gagccatggg gcactacgtc ttagctgaac gtgagtgaca
     1141 cgcagcctgc agactcactg tgggaaggag acaaaactag agactcaaag agggagtgca
     1201 tttatgagct cttcatgttt caggagagag ttgaacctaa acatagaaat tgcctgacga
     1261 actccttgat tttagccttc
//