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 //