LOCUS AF144242 1885 bp mRNA linear HUM 07-MAY-2001 DEFINITION Homo sapiens hemochromatosis splice variant delE3 mRNA, complete cds. ACCESSION AF144242 VERSION AF144242.1 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 1885) AUTHORS Thenie,A., Orhant,M., Gicquel,I., Fergelot,P., Le Gall,J.Y., David,V. and Mosser,J. TITLE The HFE gene undergoes alternate splicing processes JOURNAL Blood Cells Mol. Dis. 26 (2), 155-162 (2000) PUBMED 11001625 REFERENCE 2 (bases 1 to 1885) AUTHORS Thenie,A., Orhant,M., Gicquel,I. and Mosser,J. TITLE Direct Submission JOURNAL Submitted (20-APR-1999) Faculte de Medecine, UPR41 CNRS, 2 Avenue du Pr. Leon Bernard, Rennes Cedex 35043, France FEATURES Location/Qualifiers source 1..1885 /db_xref="H-InvDB:HIT000071284" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="6" /map="6p22" gene 1..1885 /gene="HFE" CDS 124..894 /gene="HFE" /codon_start=1 /product="hemochromatosis splice variant delE3" /protein_id="AAG29577.1" /translation="MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGL SLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRISSQMWLQLSQSLKGWDHMFTVDF WTIMENHNHSKVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFE PKDALPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVI SGIAVFVVILFIGILFIILRKRQGSRGAVGHYVLAERE" BASE COUNT 453 a 442 c 458 g 532 t ORIGIN 1 gttttactgg gcatctcctg agcctaggca atagctgtag ggtgacttct ggagccatcc 61 ccgtttcccc gccccccaaa agaagcggag atttaacggg gacgtgcggc cagagctggg 121 gaaatgggcc cgcgagccag gccggcgctt ctcctcctga tgcttttgca gaccgcggtc 181 ctgcaggggc gcttgctgcg ttcacactct ctgcactacc tcttcatggg tgcctcagag 241 caggaccttg gtctttcctt gtttgaagct ttgggctacg tggatgacca gctgttcgtg 301 ttctatgatc atgagagtcg ccgtgtggag ccccgaactc catgggtttc cagtagaatt 361 tcaagccaga tgtggctgca gctgagtcag agtctgaaag ggtgggatca catgttcact 421 gttgacttct ggactattat ggaaaatcac aaccacagca aggtgcctcc tttggtgaag 481 gtgacacatc atgtgacctc ttcagtgacc actctacggt gtcgggcctt gaactactac 541 ccccagaaca tcaccatgaa gtggctgaag gataagcagc caatggatgc caaggagttc 601 gaacctaaag acgcattgcc caatggggat gggacctacc agggctggat aaccttggct 661 gtaccccctg gggaagagca gagatatacg tgccaggtgg agcacccagg cctggatcag 721 cccctcattg tgatctggga gccctcaccg tctggcaccc tagtcattgg agtcattagt 781 ggaattgctg tttttgtcgt catcttgttc attggaattt tgttcataat attaaggaag 841 aggcagggtt caagaggagc cgtggggcac tacgtcttag ctgaacgtga gtgacacgca 901 gcctgcagac tcactgtggg aaggagacaa aactagagac tcaaagaggg agtgcattta 961 tgagctcttc atgtttcagg agagagttga acctaaacat agaaattgcc tgacgaactc 1021 cttgatttta gccttctctg ttcatttcct caaaaagatt tccccattta ggtttctgag 1081 ttcctgcatg ccggtgatcc ctagctgtga cctctcccct ggaactgtct ctcatgaacc 1141 tcaagctgca tctagaggct tccttcattt cctccgtcac ctcagagaca tacacctatg 1201 tcatttcatt tcctattttt ggaagaggac tccttaaatt tgggggactt acatgattca 1261 ttttaacatc tgagaaaagc tttgaaccct gggacgtggc tagtcataac cttaccagat 1321 ttttacacat gtatctatgc attttctgga cccgttcaac ttttcctttg aatcctctct 1381 ctgtgttacc cagtaactca tctgtcacca agccttgggg attcttccat ctgattgtga 1441 tgtgagttgc acagctatga aggctgtaca ctgcacgaat ggaagaggca cctgtcccag 1501 aaaaagcatc atggctatct gtgggtagta tgatgggtgt ttttagcagg taggaggcaa 1561 atatcttgaa aggggttgtg aagaggtgtt ttttctaatt ggcatgaagg tgtcatacag 1621 atttgcaaag tttaatggtg ccctcatttg ggatgctact ctagtattcc agacctgaag 1681 aatcacaata attttctacc tggtctctcc ttgttctgat aatgaaaatt atgataagga 1741 tgataaaagc acttacttcg tgtccgactc ttctgagcac ctacttacat gcattactgc 1801 atgcacttct tacaataatt ctatgagata ggtactatta tccccatttc ttttttaaat 1861 gaagaaagtg aagtaggccg ggcac //