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 //