LOCUS       NM_000041               1166 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens apolipoprotein E (APOE), transcript variant 2, mRNA.
ACCESSION   NM_000041
VERSION     NM_000041.4
KEYWORDS    RefSeq; MANE Select.
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 1166)
  AUTHORS   Chen,L., He,X., Mao,L. and Liu,P.
  TITLE     APOE contributes to longitudinal impulse control disorders
            progression in Parkinson's disease
  JOURNAL   BMC Psychiatry 24 (1), 632 (2024)
   PUBMED   39334114
  REMARK    GeneRIF: APOE contributes to longitudinal impulse control disorders
            progression in Parkinson's disease.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1166)
  AUTHORS   Toral-Rios,D., Pichardo-Rojas,P., Ruiz-Sanchez,E.,
            Rosas-Carrasco,O., Carvajal-Garcia,R., Galvez-Coutino,D.C.,
            Martinez-Rodriguez,N.L., Rubio-Chavez,A.D., Alcantara-Flores,M.,
            Lopez-Ramirez,A., Martinez-Rosas,A.R., Ruiz-Chow,A.A.,
            Alonso-Vanegas,M. and Campos-Pena,V.
  TITLE     Synergistic Effect between the APOE epsilon4 Allele with Genetic
            Variants of GSK3B and MAPT: Differential Profile between Refractory
            Epilepsy and Alzheimer Disease
  JOURNAL   Int J Mol Sci 25 (18), 10228 (2024)
   PUBMED   39337715
  REMARK    GeneRIF: Synergistic Effect between the APOE epsilon4 Allele with
            Genetic Variants of GSK3B and MAPT: Differential Profile between
            Refractory Epilepsy and Alzheimer Disease.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1166)
  AUTHORS   Han,J.S., Yoo,S.G., Lee,S.J., Lee,H.J., Choi,I.Y. and Park,K.H.
  TITLE     The biphasic impact of apolipoprotein E epsilon4 allele on
            age-related hearing loss
  JOURNAL   Sci Rep 14 (1), 21420 (2024)
   PUBMED   39271694
  REMARK    GeneRIF: The biphasic impact of apolipoprotein E epsilon4 allele on
            age-related hearing loss.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1166)
  AUTHORS   Wei,G., Li,B., Wang,H., Chen,L., Chen,W., Chen,K., Wang,W.,
            Wang,S., Zeng,H., Liu,Y., Zeng,Y. and Rao,H.
  TITLE     Apolipoprotein E E3/E4 genotype is associated with an increased
            risk of coronary atherosclerosis in patients with hypertension
  JOURNAL   BMC Cardiovasc Disord 24 (1), 486 (2024)
   PUBMED   39261765
  REMARK    GeneRIF: Apolipoprotein E E3/E4 genotype is associated with an
            increased risk of coronary atherosclerosis in patients with
            hypertension.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1166)
  AUTHORS   Greyshock,N., Guyton,J.R., Sebastian,S. and Okorodudu,D.
  TITLE     APOE p.Leu167del-Related Lipid Disorders - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24921113
REFERENCE   6  (bases 1 to 1166)
  AUTHORS   Bird,T.D.
  TITLE     Alzheimer Disease Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301340
REFERENCE   7  (bases 1 to 1166)
  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   8  (bases 1 to 1166)
  AUTHORS   Utermann,G., Pruin,N. and Steinmetz,A.
  TITLE     Polymorphism of apolipoprotein E. III. Effect of a single
            polymorphic gene locus on plasma lipid levels in man
  JOURNAL   Clin Genet 15 (1), 63-72 (1979)
   PUBMED   759055
REFERENCE   9  (bases 1 to 1166)
  AUTHORS   Innerarity,T.L., Mahley,R.W., Weisgraber,K.H. and Bersot,T.P.
  TITLE     Apoprotein (E--A-II) complex of human plasma lipoproteins. II.
            Receptor binding activity of a high density lipoprotein subfraction
            modulated by the apo(E--A-II) complex
  JOURNAL   J Biol Chem 253 (17), 6289-6295 (1978)
   PUBMED   210175
REFERENCE   10 (bases 1 to 1166)
  AUTHORS   Weisgraber,K.H. and Mahley,R.W.
  TITLE     Apoprotein (E--A-II) complex of human plasma lipoproteins. I.
            Characterization of this mixed disulfide and its identification in
            a high density lipoprotein subfraction
  JOURNAL   J Biol Chem 253 (17), 6281-6288 (1978)
   PUBMED   210174
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY056112.1 and BC003557.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000041.3.
            
            Summary: The protein encoded by this gene is a major apoprotein of
            the chylomicron. It binds to a specific liver and peripheral cell
            receptor, and is essential for the normal catabolism of
            triglyceride-rich lipoprotein constituents. This gene maps to
            chromosome 19 in a cluster with the related apolipoprotein C1 and
            C2 genes. Mutations in this gene result in familial
            dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III),
            in which increased plasma cholesterol and triglycerides are the
            consequence of impaired clearance of chylomicron and VLDL remnants.
            [provided by RefSeq, Jun 2016].
            
            Transcript Variant: This variant (2) contains an alternate 5'
            terminal exon, and it thus differs in the 5' UTR and initiates
            translation at a downstream in-frame start codon, compared to
            variant 1. The encoded isoform (b) is shorter at the N-terminus,
            compared to isoform a. Variants 2, 3, 4 and 5 all encode isoform b.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.95821.1, M12529.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000252486.9/ ENSP00000252486.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-24                HY056112.1         48-71
            25-1166             BC003557.1         1-1142
FEATURES             Location/Qualifiers
     source          1..1166
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     gene            1..1166
                     /gene="APOE"
                     /gene_synonym="AD2; APO-E; ApoE4; LDLCQ5; LPG"
                     /note="apolipoprotein E"
                     /db_xref="GeneID:348"
                     /db_xref="HGNC:HGNC:613"
                     /db_xref="MIM:107741"
     exon            1..46
                     /gene="APOE"
                     /gene_synonym="AD2; APO-E; ApoE4; LDLCQ5; LPG"
                     /inference="alignment:Splign:2.1.0"
     exon            47..112
                     /gene="APOE"
                     /gene_synonym="AD2; APO-E; ApoE4; LDLCQ5; LPG"
                     /inference="alignment:Splign:2.1.0"
     CDS             70..1023
                     /gene="APOE"
                     /gene_synonym="AD2; APO-E; ApoE4; LDLCQ5; LPG"
                     /note="isoform b precursor is encoded by transcript
                     variant 2; apolipoprotein E3"
                     /codon_start=1
                     /product="apolipoprotein E isoform b precursor"
                     /protein_id="NP_000032.1"
                     /db_xref="CCDS:CCDS12647.1"
                     /db_xref="GeneID:348"
                     /db_xref="HGNC:HGNC:613"
                     /db_xref="MIM:107741"
                     /translation="MKVLWAALLVTFLAGCQAKVEQAVETEPEPELRQQTEWQSGQRW
                     ELALGRFWDYLRWVQTLSEQVQEELLSSQVTQELRALMDETMKELKAYKSELEEQLTP
                     VAEETRARLSKELQAAQARLGADMEDVCGRLVQYRGEVQAMLGQSTEELRVRLASHLR
                     KLRKRLLRDADDLQKRLAVYQAGAREGAERGLSAIRERLGPLVEQGRVRAATVGSLAG
                     QPLQERAQAWGERLRARMEEMGSRTRDRLDEVKEQVAEVRAKLEEQAQQIRLQAEAFQ
                     ARLKSWFEPLVEDMQRQWAGLVEKVQAAVGTSAAPVPSDNH"
     exon            113..305
                     /gene="APOE"
                     /gene_synonym="AD2; APO-E; ApoE4; LDLCQ5; LPG"
                     /inference="alignment:Splign:2.1.0"
     exon            306..1166
                     /gene="APOE"
                     /gene_synonym="AD2; APO-E; ApoE4; LDLCQ5; LPG"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1141..1146
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APOE"
                     /gene_synonym="AD2; APO-E; ApoE4; LDLCQ5; LPG"
                     /note="hexamer: AATAAA"
     polyA_site      1166
                     /gene="APOE"
                     /gene_synonym="AD2; APO-E; ApoE4; LDLCQ5; LPG"
                     /note="major polyA site"
ORIGIN      
        1 ctactcagcc ccagcggagg tgaaggacgt ccttccccag gagccgactg gccaatcaca
       61 ggcaggaaga tgaaggttct gtgggctgcg ttgctggtca cattcctggc aggatgccag
      121 gccaaggtgg agcaagcggt ggagacagag ccggagcccg agctgcgcca gcagaccgag
      181 tggcagagcg gccagcgctg ggaactggca ctgggtcgct tttgggatta cctgcgctgg
      241 gtgcagacac tgtctgagca ggtgcaggag gagctgctca gctcccaggt cacccaggaa
      301 ctgagggcgc tgatggacga gaccatgaag gagttgaagg cctacaaatc ggaactggag
      361 gaacaactga ccccggtggc ggaggagacg cgggcacggc tgtccaagga gctgcaggcg
      421 gcgcaggccc ggctgggcgc ggacatggag gacgtgtgcg gccgcctggt gcagtaccgc
      481 ggcgaggtgc aggccatgct cggccagagc accgaggagc tgcgggtgcg cctcgcctcc
      541 cacctgcgca agctgcgtaa gcggctcctc cgcgatgccg atgacctgca gaagcgcctg
      601 gcagtgtacc aggccggggc ccgcgagggc gccgagcgcg gcctcagcgc catccgcgag
      661 cgcctggggc ccctggtgga acagggccgc gtgcgggccg ccactgtggg ctccctggcc
      721 ggccagccgc tacaggagcg ggcccaggcc tggggcgagc ggctgcgcgc gcggatggag
      781 gagatgggca gccggacccg cgaccgcctg gacgaggtga aggagcaggt ggcggaggtg
      841 cgcgccaagc tggaggagca ggcccagcag atacgcctgc aggccgaggc cttccaggcc
      901 cgcctcaaga gctggttcga gcccctggtg gaagacatgc agcgccagtg ggccgggctg
      961 gtggagaagg tgcaggctgc cgtgggcacc agcgccgccc ctgtgcccag cgacaatcac
     1021 tgaacgccga agcctgcagc catgcgaccc cacgccaccc cgtgcctcct gcctccgcgc
     1081 agcctgcagc gggagaccct gtccccgccc cagccgtcct cctggggtgg accctagttt
     1141 aataaagatt caccaagttt cacgca
//
