LOCUS       NM_000039                899 bp    mRNA    linear   PRI 22-MAY-2024
DEFINITION  Homo sapiens apolipoprotein A1 (APOA1), transcript variant 1, mRNA.
ACCESSION   NM_000039
VERSION     NM_000039.3
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 899)
  AUTHORS   Meng,J., Yang,W., Chen,Z., Pei,C., Peng,X., Li,C. and Li,F.
  TITLE     ApoA1, ApoB, ApoA1/B for Pathogenic Prediction of Chronic
            Obstructive Pulmonary Disease Complicated by Acute Lower
            Respiratory Tract Infection: A Cross-Sectional Study
  JOURNAL   Int J Chron Obstruct Pulmon Dis 19, 309-317 (2024)
   PUBMED   38292140
  REMARK    GeneRIF: ApoA1, ApoB, ApoA1/B for Pathogenic Prediction of Chronic
            Obstructive Pulmonary Disease Complicated by Acute Lower
            Respiratory Tract Infection: A Cross-Sectional Study.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 899)
  AUTHORS   Li,R., Bai,H., Guan,L., Liu,X., Fan,P., Zhou,M., Wu,Y., Wang,Y.,
            Zhu,Z., Wang,G., Wang,Y. and Li,D.
  TITLE     [75 G/A Polymorphism of Apolipoprotein A1 Gene Promoter Region in
            Normal Pregnant Women and Patients With Gestational Diabetes
            Mellitus]
  JOURNAL   Sichuan Da Xue Xue Bao Yi Xue Ban 55 (1), 125-131 (2024)
   PUBMED   38322516
  REMARK    GeneRIF: [75 G/A Polymorphism of Apolipoprotein A1 Gene Promoter
            Region in Normal Pregnant Women and Patients With Gestational
            Diabetes Mellitus].
REFERENCE   3  (bases 1 to 899)
  AUTHORS   Huang,X., Wang,Y., Huang,Z., Chen,X., Lin,Q., Huang,H. and Fan,L.
  TITLE     Low serum apolipoprotein A1 level predicts poor prognosis of
            patients with diffuse large B-cell lymphoma in the real world: a
            retrospective study
  JOURNAL   BMC Cancer 24 (1), 62 (2024)
   PUBMED   38212711
  REMARK    GeneRIF: Low serum apolipoprotein A1 level predicts poor prognosis
            of patients with diffuse large B-cell lymphoma in the real world: a
            retrospective study.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 899)
  AUTHORS   Kurdi,C., Schmidt,J., Horvath-Szalai,Z., Mauchart,P., Godony,K.,
            Varnagy,A., Kovacs,G.L. and Koszegi,T.
  TITLE     Follicular Fluid Proteomic Analysis of Women Undergoing Assisted
            Reproduction Suggests That Apolipoprotein A1 Is a Potential
            Fertility Marker
  JOURNAL   Int J Mol Sci 25 (1), 486 (2023)
   PUBMED   38203658
  REMARK    GeneRIF: Follicular Fluid Proteomic Analysis of Women Undergoing
            Assisted Reproduction Suggests That Apolipoprotein A1 Is a
            Potential Fertility Marker.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 899)
  AUTHORS   Kingwell,B.A., Chapman,M.J., Kontush,A. and Miller,N.E.
  TITLE     HDL-targeted therapies: progress, failures and future
  JOURNAL   Nat Rev Drug Discov 13 (6), 445-464 (2014)
   PUBMED   24854407
  REMARK    Review article
REFERENCE   6  (bases 1 to 899)
  AUTHORS   Breslow,J.L., Ross,D., McPherson,J., Williams,H., Kurnit,D.,
            Nussbaum,A.L., Karathanasis,S.K. and Zannis,V.I.
  TITLE     Isolation and characterization of cDNA clones for human
            apolipoprotein A-I
  JOURNAL   Proc Natl Acad Sci U S A 79 (22), 6861-6865 (1982)
   PUBMED   6294659
REFERENCE   7  (bases 1 to 899)
  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
REFERENCE   8  (bases 1 to 899)
  AUTHORS   Brewer,H.B. Jr., Fairwell,T., LaRue,A., Ronan,R., Houser,A. and
            Bronzert,T.J.
  TITLE     The amino acid sequence of human APOA-I, an apolipoprotein isolated
            from high density lipoproteins
  JOURNAL   Biochem Biophys Res Commun 80 (3), 623-630 (1978)
   PUBMED   204308
REFERENCE   9  (bases 1 to 899)
  AUTHORS   Ritter,M.C. and Scanus,A.M.
  TITLE     Role of apolipoprotein A-I in the structure of human serum high
            density lipoproteins. Reconstitution studies
  JOURNAL   J Biol Chem 252 (4), 1208-1216 (1977)
   PUBMED   190223
REFERENCE   10 (bases 1 to 899)
  AUTHORS   Baker,H.N., Gotto,A.M. Jr. and Jackson,R.L.
  TITLE     The primary structure of human plasma high density apolipoprotein
            glutamine I (ApoA-I). II. The amino acid sequence and alignment of
            cyanogen bromide fragments IV, III, and I
  JOURNAL   J Biol Chem 250 (7), 2725-2738 (1975)
   PUBMED   164450
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X02162.1.
            
            On Feb 27, 2020 this sequence version replaced NM_000039.2.
            
            Summary: This gene encodes apolipoprotein A-I, which is the major
            protein component of high density lipoprotein (HDL) in plasma. The
            encoded preproprotein is proteolytically processed to generate the
            mature protein, which promotes cholesterol efflux from tissues to
            the liver for excretion, and is a cofactor for lecithin
            cholesterolacyltransferase (LCAT), an enzyme responsible for the
            formation of most plasma cholesteryl esters. This gene is closely
            linked with two other apolipoprotein genes on chromosome 11.
            Defects in this gene are associated with HDL deficiencies,
            including Tangier disease, and with systemic non-neuropathic
            amyloidosis. Alternative splicing results in multiple transcript
            variants, at least one of which encodes a preproprotein. [provided
            by RefSeq, Dec 2015].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform. Variants 1-3 encode the
            same isoform (1).
            
            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 :: X02162.1, BC005380.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144835
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000236850.5/ ENSP00000236850.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-899               X02162.1           49-947
FEATURES             Location/Qualifiers
     source          1..899
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     gene            1..899
                     /gene="APOA1"
                     /gene_synonym="AMYLD3; apo(a); HPALP2"
                     /note="apolipoprotein A1"
                     /db_xref="GeneID:335"
                     /db_xref="HGNC:HGNC:600"
                     /db_xref="MIM:107680"
     exon            1..18
                     /gene="APOA1"
                     /gene_synonym="AMYLD3; apo(a); HPALP2"
                     /inference="alignment:Splign:2.1.0"
     exon            19..81
                     /gene="APOA1"
                     /gene_synonym="AMYLD3; apo(a); HPALP2"
                     /inference="alignment:Splign:2.1.0"
     CDS             39..842
                     /gene="APOA1"
                     /gene_synonym="AMYLD3; apo(a); HPALP2"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; apo-AI; epididymis secretory sperm binding
                     protein; apolipoprotein A-I"
                     /codon_start=1
                     /product="apolipoprotein A-I isoform 1 preproprotein"
                     /protein_id="NP_000030.1"
                     /db_xref="CCDS:CCDS8378.1"
                     /db_xref="GeneID:335"
                     /db_xref="HGNC:HGNC:600"
                     /db_xref="MIM:107680"
                     /translation="MKAAVLTLAVLFLTGSQARHFWQQDEPPQSPWDRVKDLATVYVD
                     VLKDSGRDYVSQFEGSALGKQLNLKLLDNWDSVTSTFSKLREQLGPVTQEFWDNLEKE
                     TEGLRQEMSKDLEEVKAKVQPYLDDFQKKWQEEMELYRQKVEPLRAELQEGARQKLHE
                     LQEKLSPLGEEMRDRARAHVDALRTHLAPYSDELRQRLAARLEALKENGGARLAEYHA
                     KATEHLSTLSEKAKPALEDLRQGLLPVLESFKVSFLSALEEYTKKLNTQ"
     exon            82..238
                     /gene="APOA1"
                     /gene_synonym="AMYLD3; apo(a); HPALP2"
                     /inference="alignment:Splign:2.1.0"
     exon            239..899
                     /gene="APOA1"
                     /gene_synonym="AMYLD3; apo(a); HPALP2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      877..882
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APOA1"
                     /gene_synonym="AMYLD3; apo(a); HPALP2"
                     /note="hexamer: AATAAA"
     polyA_site      899
                     /gene="APOA1"
                     /gene_synonym="AMYLD3; apo(a); HPALP2"
                     /note="major polyA site"
ORIGIN      
        1 agagactgcg agaaggaggt cccccacggc ccttcaggat gaaagctgcg gtgctgacct
       61 tggccgtgct cttcctgacg gggagccagg ctcggcattt ctggcagcaa gatgaacccc
      121 cccagagccc ctgggatcga gtgaaggacc tggccactgt gtacgtggat gtgctcaaag
      181 acagcggcag agactatgtg tcccagtttg aaggctccgc cttgggaaaa cagctaaacc
      241 taaagctcct tgacaactgg gacagcgtga cctccacctt cagcaagctg cgcgaacagc
      301 tcggccctgt gacccaggag ttctgggata acctggaaaa ggagacagag ggcctgaggc
      361 aggagatgag caaggatctg gaggaggtga aggccaaggt gcagccctac ctggacgact
      421 tccagaagaa gtggcaggag gagatggagc tctaccgcca gaaggtggag ccgctgcgcg
      481 cagagctcca agagggcgcg cgccagaagc tgcacgagct gcaagagaag ctgagcccac
      541 tgggcgagga gatgcgcgac cgcgcgcgcg cccatgtgga cgcgctgcgc acgcatctgg
      601 ccccctacag cgacgagctg cgccagcgct tggccgcgcg ccttgaggct ctcaaggaga
      661 acggcggcgc cagactggcc gagtaccacg ccaaggccac cgagcatctg agcacgctca
      721 gcgagaaggc caagcccgcg ctcgaggacc tccgccaagg cctgctgccc gtgctggaga
      781 gcttcaaggt cagcttcctg agcgctctcg aggagtacac taagaagctc aacacccagt
      841 gaggcgcccg ccgccgcccc ccttcccggt gctcagaata aacgtttcca aagtgggaa
//
