LOCUS HSU60319 2727 bp mRNA linear HUM 29-OCT-1997
DEFINITION Homo sapiens haemochromatosis protein (HLA-H) mRNA, complete cds.
ACCESSION U60319
VERSION U60319.1
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 2727)
AUTHORS Feder,J.N., Gnirke,A., Thomas,W., Tsuchihashi,Z., Ruddy,D.A.,
Basava,A., Dormishian,F., Domingo,R., Ellis,M.C., Fullan,A.,
Hinton,L.M., Jones,N.L., Kimmel,B.E., Kronmal,G.S., Lauer,P.,
Lee,V.K., Loeb,D.B., Mapa,F., McClelland,E., Meyer,N.C.,
Mintier,G.A., Moeller,N., Moore,T., Morkang,E., Prass,C.E.,
Quintana,L., Stranes,S.M., Schatzman,R.C., Brunke,K.J.,
Drayna,D.T., Risch,N.J., Bacon,B.R. and Wolff,R.K.
TITLE A novel MHC class I-like gene is mutated in patients with
hereditary haemochromatosis
JOURNAL Nat. Genet. 13 (4), 399-408 (1996)
PUBMED 8696333
REFERENCE 2 (bases 1 to 2727)
AUTHORS Feder,J.N., Gnirke,A., Thomas,W., Tsuchihashi,Z., Ruddy,D.A.,
Basava,A., Dormishian,F., Domingo,R., Ellis,M.C., Fullan,A.,
Hinton,L.M., Jones,N.L., Kimmel,B.E., Kronmal,G.S., Lauer,P.,
Lee,V.K., Loeb,D.B., Mapa,F., McClelland,E., Meyer,N.C.,
Mintier,G.A., Moeller,N., Moore,T., Morkang,E., Prass,C.E.,
Quintana,L., Stranes,S.M., Schatzman,R.C., Brunke,K.J.,
Drayna,D.T., Risch,N.J., Bacon,B.R. and Wolff,R.K.
TITLE Direct Submission
JOURNAL Submitted (10-JUN-1996) Mercator Genetics, 4040 Campbell Ave.,
Menlo Park, CA 94025, USA
FEATURES Location/Qualifiers
source 1..2727
/db_xref="H-InvDB:HIT000220631"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="6"
/map="6p21.3"
gene 1..2727
/gene="HLA-H"
/gene_synonym="HFE"
CDS 222..1268
/gene="HLA-H"
/gene_synonym="HFE"
/codon_start=1
/product="haemochromatosis protein"
/protein_id="AAC51823.1"
/translation="MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGL
SLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRISSQMWLQLSQSLKGWDHMFTVDF
WTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEP
RAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTS
SVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGE
EQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQG
SRGAMGHYVLAERE"
BASE COUNT 702 a 606 c 660 g 759 t
ORIGIN
1 ggggacactg gatcacctag tgtttcacaa gcaggtacct tctgctgtag gagagagaga
61 actaaagttc tgaaagacct gttgcttttc accaggaagt tttactgggc atctcctgag
121 cctaggcaat agctgtaggg tgacttctgg agccatcccc gtttccccgc cccccaaaag
181 aagcggagat ttaacgggga cgtgcggcca gagctgggga aatgggcccg cgagccaggc
241 cggcgcttct cctcctgatg cttttgcaga ccgcggtcct gcaggggcgc ttgctgcgtt
301 cacactctct gcactacctc ttcatgggtg cctcagagca ggaccttggt ctttccttgt
361 ttgaagcttt gggctacgtg gatgaccagc tgttcgtgtt ctatgatcat gagagtcgcc
421 gtgtggagcc ccgaactcca tgggtttcca gtagaatttc aagccagatg tggctgcagc
481 tgagtcagag tctgaaaggg tgggatcaca tgttcactgt tgacttctgg actattatgg
541 aaaatcacaa ccacagcaag gagtcccaca ccctgcaggt catcctgggc tgtgaaatgc
601 aagaagacaa cagtaccgag ggctactgga agtacgggta tgatgggcag gaccaccttg
661 aattctgccc tgacacactg gattggagag cagcagaacc cagggcctgg cccaccaagc
721 tggagtggga aaggcacaag attcgggcca ggcagaacag ggcctacctg gagagggact
781 gccctgcaca gctgcagcag ttgctggagc tggggagagg tgttttggac caacaagtgc
841 ctcctttggt gaaggtgaca catcatgtga cctcttcagt gaccactcta cggtgtcggg
901 ccttgaacta ctacccccag aacatcacca tgaagtggct gaaggataag cagccaatgg
961 atgccaagga gttcgaacct aaagacgtat tgcccaatgg ggatgggacc taccagggct
1021 ggataacctt ggctgtaccc cctggggaag agcagagata tacgtgccag gtggagcacc
1081 caggcctgga tcagcccctc attgtgatct gggagccctc accgtctggc accctagtca
1141 ttggagtcat cagtggaatt gctgtttttg tcgtcatctt gttcattgga attttgttca
1201 taatattaag gaagaggcag ggttcaagag gagccatggg gcactacgtc ttagctgaac
1261 gtgagtgaca cgcagcctgc agactcactg tgggaaggag acaaaactag agactcaaag
1321 agggagtgca tttatgagct cttcatgttt caggagagag ttgaacctaa acatagaaat
1381 tgcctgacga actccttgat tttagccttc tctgttcatt tcctcaaaaa gatttcccca
1441 tttaggtttc tgagttcctg catgccggtg atccctagct gtgacctctc ccctggaact
1501 gtctctcatg aacctcaagc tgcatctaga ggcttccttc atttcctccg tcacctcaga
1561 gacatacacc tatgtcattt catttcctat ttttggaaga ggactcctta aatttggggg
1621 acttacatga ttcattttaa catctgagaa aagctttgaa ccctgggacg tggctagtca
1681 taaccttacc agatttttac acatgtatct atgcattttc tggacccgtt caacttttcc
1741 tttgaatcct ctctctgtgt tacccagtaa ctcatctgtc accaagcctt ggggattctt
1801 ccatctgatt gtgatgtgag ttgcacagct atgaaggctg tgcactgcac gaatggaaga
1861 ggcacctgtc ccagaaaaag catcatggct atctgtgggt agtatgatgg gtgtttttag
1921 caggtaggag gcaaatatct tgaaaggggt tgtgaagagg tgttttttct aattggcatg
1981 aaggtgtcat acagatttgc aaagtttaat ggtgccttca tttgggatgc tactctagta
2041 ttccagacct gaagaatcac aataattttc tacctggtct ctccttgttc tgataatgaa
2101 aattatgata aggatgataa aagcacttac ttcgtgtccg actcttctga gcacctactt
2161 acatgcatta ctgcatgcac ttcttacaat aattctatga gataggtact attatcccca
2221 tttctttttt aaatgaagaa agtgaagtag gccgggcacg gtggctcgcg cctgtggtcc
2281 cagggtgctg agattgcagg tgtgagccac cctgcccagc cgtcaaaaga gtcttaatat
2341 atatatccag atggcatgtg tttactttat gttactacat gcacttggct gcataaatgt
2401 ggtacaacca ttctgtcttg aagggcaggt gcttcaggat accatataca gctcagaagt
2461 ttcttcttta ggcattaaat tttagcaaag atatctcatc tcttctttta aaccattttc
2521 tttttttgtg gttagaaaag ttatgtagaa aaaagtaaat gtgatttacg ctcattgtag
2581 aaaagctata aaatgaatac aattaaagct gttatttaat tagccagtga aaaactatta
2641 acaacttgtc tattacctgt tagtattatt gttgcattaa aaatgcatat actttaataa
2701 atgtacattg tattgtaaaa aaaaaaa
//