LOCUS AAB59546.1 317 aa PRT HUM 21-OCT-2002 DEFINITION Homo sapiens preapolipoprotein E protein. ACCESSION K00396-1 PROTEIN_ID AAB59546.1 SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 355 to 1156) AUTHORS Breslow,J.L., McPherson,J., Nussbaum,A.L., Williams,H.W., Lofquist-Kahl,F., Karathanasis,S.K. and Zannis,V.I. TITLE Identification and DNA sequence of a human apolipoprotein E cDNA clone JOURNAL J. Biol. Chem. 257 (24), 14639-14641 (1982) PUBMED 6897404 REFERENCE 2 (bases 250 to 777) AUTHORS Wallis,S.C., Rogne,S., Gill,L., Markham,A., Edge,M., Woods,D., Williamson,R. and Humphries,S. TITLE The isolation of cDNA clones for human apolipoprotein E and the detection of apoE RNA in hepatic and extra-hepatic tissues JOURNAL EMBO J. 2 (12), 2369-2373 (1983) PUBMED 6199196 REFERENCE 3 (bases 1 to 1156) AUTHORS Zannis,V.I., McPherson,J., Goldberger,G., Karathanasis,S.K. and Breslow,J.L. TITLE Synthesis, intracellular processing, and signal peptide of human apolipoprotein E JOURNAL J. Biol. Chem. 259 (9), 5495-5499 (1984) PUBMED 6325438 REFERENCE 4 (bases 88 to 1156) AUTHORS McLean,J.W., Elshourbagy,N.A., Chang,D.J., Mahley,R.W. and Taylor,J.M. TITLE Human apolipoprotein E mRNA. cDNA cloning and nucleotide sequencing of a new variant JOURNAL J. Biol. Chem. 259 (10), 6498-6504 (1984) PUBMED 6327682 REFERENCE 5 (bases 577 to 624) AUTHORS Gill,L.L., Peoples,O.P., Pearston,D.H., Robertson,F.W., Humphries,S.E., Cumming,A.M. and Hardman,N. TITLE Isolation and characterisation of a variant allele of the gene for human apolipoprotein E JOURNAL Biochem. Biophys. Res. Commun. 130 (3), 1261-1266 (1985) PUBMED 2992507 REFERENCE 6 (sites) AUTHORS Rall,S.C. Jr., Newhouse,Y.M., Clarke,H.R., Weisgraber,K.H., McCarthy,B.J., Mahley,R.W. and Bersot,T.P. TITLE Type III hyperlipoproteinemia associated with apolipoprotein E phenotype E3/3. Structure and genetics of an apolipoprotein E3 variant JOURNAL J. Clin. Invest. 83 (4), 1095-1101 (1989) PUBMED 2539388 COMMENT [1] corrected in [J. Biol. Chem. 258, 11422-11422 (1983)]. [J. Biol. Chem. 258, 11422-11422 (1983)] correction of [1]. [4] epsilon-3 and variant. [5] epsilon-2 allele. [6] sites; mutations resulting in type III hyperlipoproteinemia. Apo E is a component of normal human very low density lipoprotein. There are six human apo E phenotypes known to result from a single structural gene, three of the common alleles being epsilon-4, epsilon-3 and epsilon-2. This sequence appears to be of the epsilon-3 allele. [1] argues that the apo E polymorphism involves mutations in the structural coding region; for example the epsilon-2 phenotype which is characterized by hyperlipoproteinemia is thought to result from a c to t change (arg to cys) at base 586 below [3],[5]. The sequence shown is 57% homologous with human apo A-I and 81% homologous with rat apo E. For the epsilon-4 sequence, see the separate entry. [J. Biol. Chem. 258, 11422-11422 (1983)] is too extensively revised relative to [1] to record the revisions in the FEATURES table. The sequence below is that of [J. Biol. Chem. 258, 11422-11422 (1983)] and [3]. Apo E is located on chromosome 19 --Jackson, Bruns and Breslow , PNAS USA 81, 2945-2949 (1984) -- and is believed to be linked to the Apo C-II gene (see separate entry). The two mutations causing type III hyperlipoproteinemia (apolipoprotein E phenotype E3/3) produces substitutions of Arg for Cys at amino acid 112 and Cys for Arg at amino acid position 142. Draft entry and printed copy of sequence for [1] kindly provided by L.L. Gill, University of Aberdeen. Complete source information: Human liver [1],[J. Biol. Chem. 258, 11422-11422 (1983)],[2],[3], [4] and blood [5], cDNA to mRNA. FEATURES Qualifiers source /db_xref="H-InvDB:HIT000191348" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /map="19q13.2" /tissue_type="liver and blood" protein /gene="APOE" /db_xref="GDB:G00-119-691" BEGIN 1 MKVLWAALLV TFLAGCQAKV EQAVETEPEP ELRQQTEWQS GQRWELALGR FWDYLRWVQT 61 LSEQVQEELL SSQVTQELRA LMDETMKELK AYKSELEEQL TPVAEETRAR LSKELQAAQA 121 RLGADMEDVC GRLVQYRGEV QAMLGQSTEE LRVRLASHLR KLRKRLLRDA DDLQKRLAVY 181 QAGAREGAER GLSAIRERLG PLVEQGRVRA ATVGSLAGQP LQERAQAWGE RLRARMEEMG 241 SRTRDRLDEV KEQVAEVRAK LEEQAQQIRL QAEAFQARLK SWFEPLVEDM QRQWAGLVEK 301 VQAAVGTSAA PVPSDNH //