LOCUS AAC51823.1 348 aa PRT HUM 29-OCT-1997 DEFINITION Homo sapiens haemochromatosis protein protein. ACCESSION U60319-1 PROTEIN_ID AAC51823.1 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 Qualifiers source /db_xref="H-InvDB:HIT000220631" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="6" /map="6p21.3" protein /gene="HLA-H" /gene_synonym="HFE" BEGIN 1 MGPRARPALL LLMLLQTAVL QGRLLRSHSL HYLFMGASEQ DLGLSLFEAL GYVDDQLFVF 61 YDHESRRVEP RTPWVSSRIS SQMWLQLSQS LKGWDHMFTV DFWTIMENHN HSKESHTLQV 121 ILGCEMQEDN STEGYWKYGY DGQDHLEFCP DTLDWRAAEP RAWPTKLEWE RHKIRARQNR 181 AYLERDCPAQ LQQLLELGRG VLDQQVPPLV KVTHHVTSSV TTLRCRALNY YPQNITMKWL 241 KDKQPMDAKE FEPKDVLPNG DGTYQGWITL AVPPGEEQRY TCQVEHPGLD QPLIVIWEPS 301 PSGTLVIGVI SGIAVFVVIL FIGILFIILR KRQGSRGAMG HYVLAERE //