LOCUS       NM_001371904            1881 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens apolipoprotein A5 (APOA5), transcript variant 3, mRNA.
ACCESSION   NM_001371904
VERSION     NM_001371904.1
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 1881)
  AUTHORS   Park,Y.J., Moon,S., Choi,J., Kim,J., Kim,H.J., Son,H.Y., Im,S.W.
            and Kim,J.I.
  TITLE     Genome-wide association study for metabolic syndrome reveals APOA5
            single nucleotide polymorphisms with multilayered effects in
            Koreans
  JOURNAL   Lipids Health Dis 23 (1), 272 (2024)
   PUBMED   39198834
  REMARK    GeneRIF: Genome-wide association study for metabolic syndrome
            reveals APOA5 single nucleotide polymorphisms with multilayered
            effects in Koreans.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1881)
  AUTHORS   Besin,V., Humardani,F.M., Yulianti,T., Putra,S.E.D., Triana,R. and
            Justyn,M.
  TITLE     The Apo gene's genetic variants: hidden role in Asian vascular risk
  JOURNAL   Neurogenetics 25 (3), 157-164 (2024)
   PUBMED   38625441
  REMARK    GeneRIF: The Apo gene's genetic variants: hidden role in Asian
            vascular risk.
            Review article
REFERENCE   3  (bases 1 to 1881)
  AUTHORS   Perera,S.D. and Hegele,R.A.
  TITLE     Genetic variation in apolipoprotein A-V in hypertriglyceridemia
  JOURNAL   Curr Opin Lipidol 35 (2), 66-77 (2024)
   PUBMED   38117614
  REMARK    GeneRIF: Genetic variation in apolipoprotein A-V in
            hypertriglyceridemia.
            Review article
REFERENCE   4  (bases 1 to 1881)
  AUTHORS   Liu,Y., Dai,S., Qin,S., Zhou,J., Wang,Z. and Yin,G.
  TITLE     The pathogenic mutations of APOA5 in Chinese patients with
            hyperlipidemic acute pancreatitis
  JOURNAL   Lipids Health Dis 23 (1), 44 (2024)
   PUBMED   38331899
  REMARK    GeneRIF: The pathogenic mutations of APOA5 in Chinese patients with
            hyperlipidemic acute pancreatitis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1881)
  AUTHORS   Li,Y., Cai,H., Lin,Y., Huang,Z., Zhou,A., Huang,T., Zeng,Y.E.,
            Ye,M., Guo,G. and Huang,Z.
  TITLE     Association of Apolipoprotein A5 Gene Variants with Hyperlipidemic
            Acute Pancreatitis in Southeastern China
  JOURNAL   Genet Test Mol Biomarkers 27 (9), 284-289 (2023)
   PUBMED   37768328
  REMARK    GeneRIF: Association of Apolipoprotein A5 Gene Variants with
            Hyperlipidemic Acute Pancreatitis in Southeastern China.
REFERENCE   6  (bases 1 to 1881)
  AUTHORS   Alborn,W.E., Johnson,M.G., Prince,M.J. and Konrad,R.J.
  TITLE     Definitive N-terminal protein sequence and further characterization
            of the novel apolipoprotein A5 in human serum
  JOURNAL   Clin Chem 52 (3), 514-517 (2006)
   PUBMED   16510431
REFERENCE   7  (bases 1 to 1881)
  AUTHORS   Nabika,T., Nasreen,S., Kobayashi,S. and Masuda,J.
  TITLE     The genetic effect of the apoprotein AV gene on the serum
            triglyceride level in Japanese
  JOURNAL   Atherosclerosis 165 (2), 201-204 (2002)
   PUBMED   12417270
  REMARK    GeneRIF: Polymorphism in the apoAV gene influences serum TG in
            populations of different ethnicities
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 1881)
  AUTHORS   Pennacchio,L.A., Olivier,M., Hubacek,J.A., Krauss,R.M., Rubin,E.M.
            and Cohen,J.C.
  TITLE     Two independent apolipoprotein A5 haplotypes influence human plasma
            triglyceride levels
  JOURNAL   Hum Mol Genet 11 (24), 3031-3038 (2002)
   PUBMED   12417524
  REMARK    GeneRIF: Two haplotypes are found in 25-50% of subjects, supporting
            the contribution of common variation to quantitative phenotypes.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 1881)
  AUTHORS   van der Vliet,H.N., Sammels,M.G., Leegwater,A.C., Levels,J.H.,
            Reitsma,P.H., Boers,W. and Chamuleau,R.A.
  TITLE     Apolipoprotein A-V: a novel apolipoprotein associated with an early
            phase of liver regeneration
  JOURNAL   J Biol Chem 276 (48), 44512-44520 (2001)
   PUBMED   11577099
REFERENCE   10 (bases 1 to 1881)
  AUTHORS   Pennacchio,L.A., Olivier,M., Hubacek,J.A., Cohen,J.C., Cox,D.R.,
            Fruchart,J.C., Krauss,R.M. and Rubin,E.M.
  TITLE     An apolipoprotein influencing triglycerides in humans and mice
            revealed by comparative sequencing
  JOURNAL   Science 294 (5540), 169-173 (2001)
   PUBMED   11588264
  REMARK    GeneRIF: an important determinant of plasma triglyceride levels
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP006216.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene is an apolipoprotein that
            plays an important role in regulating the plasma triglyceride
            levels, a major risk factor for coronary artery disease. It is a
            component of high density lipoprotein and is highly similar to a
            rat protein that is upregulated in response to liver injury.
            Mutations in this gene have been associated with
            hypertriglyceridemia and hyperlipoproteinemia type 5. This gene is
            located proximal to the apolipoprotein gene cluster on chromosome
            11q23. Alternatively spliced transcript variants encoding the same
            protein have been identified. [provided by RefSeq, Oct 2009].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: AF202889.1, AF202890.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162895, SAMN04284274
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000227665.9/ ENSP00000227665.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-68                AP006216.1         80860-80927         c
            69-180              AP006216.1         80634-80745         c
            181-1881            AP006216.1         78415-80115         c
FEATURES             Location/Qualifiers
     source          1..1881
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     gene            1..1881
                     /gene="APOA5"
                     /gene_synonym="APOAV; RAP3"
                     /note="apolipoprotein A5"
                     /db_xref="GeneID:116519"
                     /db_xref="HGNC:HGNC:17288"
                     /db_xref="MIM:606368"
     exon            1..68
                     /gene="APOA5"
                     /gene_synonym="APOAV; RAP3"
                     /inference="alignment:Splign:2.1.0"
     CDS             20..1120
                     /gene="APOA5"
                     /gene_synonym="APOAV; RAP3"
                     /note="regeneration-associated protein 3; apo-AV;
                     apolipoprotein A-V"
                     /codon_start=1
                     /product="apolipoprotein A-V precursor"
                     /protein_id="NP_001358833.1"
                     /db_xref="CCDS:CCDS8376.2"
                     /db_xref="GeneID:116519"
                     /db_xref="HGNC:HGNC:17288"
                     /db_xref="MIM:606368"
                     /translation="MASMAAVLTWALALLSAFSATQARKGFWDYFSQTSGDKGRVEQI
                     HQQKMAREPATLKDSLEQDLNNMNKFLEKLRPLSGSEAPRLPQDPVGMRRQLQEELEE
                     VKARLQPYMAEAHELVGWNLEGLRQQLKPYTMDLMEQVALRVQELQEQLRVVGEDTKA
                     QLLGGVDEAWALLQGLQSRVVHHTGRFKELFHPYAESLVSGIGRHVQELHRSVAPHAP
                     ASPARLSRCVQVLSRKLTLKAKALHARIQQNLDQLREELSRAFAGTGTEEGAGPDPQM
                     LSEEVRQRLQAFRQDTYLQIAAFTRAIDQETEEVQQQLAPPPPGHSAFAPEFQQTDSG
                     KVLSKLQARLDDLWEDITHSLHDQGHSHLGDP"
     exon            69..180
                     /gene="APOA5"
                     /gene_synonym="APOAV; RAP3"
                     /inference="alignment:Splign:2.1.0"
     exon            181..1881
                     /gene="APOA5"
                     /gene_synonym="APOAV; RAP3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1312..1317
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APOA5"
                     /gene_synonym="APOAV; RAP3"
                     /note="hexamer: ATTACA"
     polyA_site      1335
                     /gene="APOA5"
                     /gene_synonym="APOAV; RAP3"
                     /note="major polyA site"
     regulatory      1862..1867
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APOA5"
                     /gene_synonym="APOAV; RAP3"
                     /note="hexamer: AATAGA"
     polyA_site      1881
                     /gene="APOA5"
                     /gene_synonym="APOAV; RAP3"
                     /note="major polyA site"
ORIGIN      
        1 tgtcttctca gagcaggtaa tggcaagcat ggctgccgtg ctcacctggg ctctggctct
       61 tctttcagcg ttttcggcca cccaggcacg gaaaggcttc tgggactact tcagccagac
      121 cagcggggac aaaggcaggg tggagcagat ccatcagcag aagatggctc gcgagcccgc
      181 gaccctgaaa gacagccttg agcaagacct caacaatatg aacaagttcc tggaaaagct
      241 gaggcctctg agtgggagcg aggctcctcg gctcccacag gacccggtgg gcatgcggcg
      301 gcagctgcag gaggagttgg aggaggtgaa ggctcgcctc cagccctaca tggcagaggc
      361 gcacgagctg gtgggctgga atttggaggg cttgcggcag caactgaagc cctacacgat
      421 ggatctgatg gagcaggtgg ccctgcgcgt gcaggagctg caggagcagt tgcgcgtggt
      481 gggggaagac accaaggccc agttgctggg gggcgtggac gaggcttggg ctttgctgca
      541 gggactgcag agccgcgtgg tgcaccacac cggccgcttc aaagagctct tccacccata
      601 cgccgagagc ctggtgagcg gcatcgggcg ccacgtgcag gagctgcacc gcagtgtggc
      661 tccgcacgcc cccgccagcc ccgcgcgcct cagtcgctgc gtgcaggtgc tctcccggaa
      721 gctcacgctc aaggccaagg ccctgcacgc acgcatccag cagaacctgg accagctgcg
      781 cgaagagctc agcagagcct ttgcaggcac tgggactgag gaaggggccg gcccggaccc
      841 ccagatgctc tccgaggagg tgcgccagcg acttcaggct ttccgccagg acacctacct
      901 gcagatagct gccttcactc gcgccatcga ccaggagact gaggaggtcc agcagcagct
      961 ggcgccacct ccaccaggcc acagtgcctt cgccccagag tttcaacaaa cagacagtgg
     1021 caaggttctg agcaagctgc aggcccgtct ggatgacctg tgggaagaca tcactcacag
     1081 ccttcatgac cagggccaca gccatctggg ggacccctga ggatctacct gcccaggccc
     1141 attcccagct ccttgtctgg ggagccttgg ctctgagcct ctagcatggt tcagtccttg
     1201 aaagtggcct gttgggtgga gggtggaagg tcctgtgcag gacagggagg ccaccaaagg
     1261 ggctgctgtc tcctgcacat ccagcctcct gcgactcccc aatctggatg cattacattc
     1321 accaggcttt gcaaacccag cctcccagtg ctcatttggg aatgctcatg agttactcca
     1381 ttcaagggtg agggagtagg gagggagagg caccatgcat gtgggtgatt atctgcaagc
     1441 ctgtttgccg tgatgctgga agcctgtgcc actacatcct ggagtttggc tctagtcact
     1501 tctggctgcc tggtggccac tgctacagct ggtccacaga gaggagcact tgtctcccca
     1561 gggctgccat ggcagctatc aggggaatag aagggagaaa gagaatatca tggggagaac
     1621 atgtgatggt gtgtgaatat ccctgctggc tctgatgctg gtgggtacga aaggtgtggg
     1681 ctgtgatagg agagggcaga gcccatgttt cctgacatag ctctacacct aaataaggga
     1741 ctgaaccctc ccaactgtgg gagctcctta aaccctctgg ggagcatact gtgtgctctc
     1801 cccatctcca gcccctccct ctgggttccc aagttgaagc ctagacttct ggctcaaatg
     1861 aaatagatgt ttatgataga a
//
