LOCUS       NM_018690               3792 bp    mRNA    linear   PRI 27-DEC-2024
DEFINITION  Homo sapiens apolipoprotein B receptor (APOBR), mRNA.
ACCESSION   NM_018690 NM_001424171 NM_182804
VERSION     NM_018690.4
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 3792)
  AUTHORS   Sun,J., Sun,L., Chen,W., Yin,X., Lu,Y. and Jiang,Q.
  TITLE     A family with hypothyroidism caused by fatty acid synthase and
            apolipoprotein B receptor mutations
  JOURNAL   Mol Med Rep 18 (6), 4904-4912 (2018)
   PUBMED   30272292
  REMARK    GeneRIF: the findings reported here demonstrated that patients with
            mutations in FASN (c.G7192T, p.A2398S) and APOBR (c.C1883G,
            p.T628R) may be predisposed to hypothyroidism. These mutations may
            disrupt the regulation of fatty acid biosynthesis and lipid
            metabolism. These findings may reveal the high degree of genetic
            heterogeneity in hypothyroidism phenotypes.
REFERENCE   2  (bases 1 to 3792)
  AUTHORS   Volckmar,A.L., Putter,C., Song,J.Y., Graniger,J., Knoll,N.,
            Wolters,B., Hebebrand,J., Scherag,A., Reinehr,T. and Hinney,A.
  TITLE     Analyses of non-synonymous obesity risk alleles in SH2B1
            (rs7498665) and APOB48R (rs180743) in obese children and
            adolescents undergoing a 1-year lifestyle intervention
  JOURNAL   Exp Clin Endocrinol Diabetes 121 (6), 334-337 (2013)
   PUBMED   23519644
  REMARK    GeneRIF: The obesity risk alleles of non-synonymous SNPs at SH2B1
            and APOB48R have no strong effect on weight loss-related phenotypes
            in overweight children after a 1-year lifestyle intervention.
REFERENCE   3  (bases 1 to 3792)
  AUTHORS   Bermudez,B., Lopez,S., Varela,L.M., Ortega,A., Pacheco,Y.M.,
            Moreda,W., Moreno-Luna,R., Abia,R. and Muriana,F.J.
  TITLE     Triglyceride-rich lipoprotein regulates APOB48 receptor gene
            expression in human THP-1 monocytes and macrophages
  JOURNAL   J Nutr 142 (2), 227-232 (2012)
   PUBMED   22190030
  REMARK    GeneRIF: These findings suggest that APOB48R represents a molecular
            target of postprandial lipoproteins via PPAR-dependent pathways in
            human monocytes and macrophages and advance an important link
            between postprandial metabolism of dietary fats and atherogenesis.
REFERENCE   4  (bases 1 to 3792)
  AUTHORS   Varela,L.M., Ortega,A., Bermudez,B., Lopez,S., Pacheco,Y.M.,
            Villar,J., Abia,R. and Muriana,F.J.
  TITLE     A high-fat meal promotes lipid-load and apolipoprotein B-48
            receptor transcriptional activity in circulating monocytes
  JOURNAL   Am J Clin Nutr 93 (5), 918-925 (2011)
   PUBMED   21367954
  REMARK    GeneRIF: investigation of apoB48R gene transcription in circulating
            monocytes: increase in apoB48R gene transcription following
            high-fat meal
REFERENCE   5  (bases 1 to 3792)
  AUTHORS   Ghosh,D., Lippert,D., Krokhin,O., Cortens,J.P. and Wilkins,J.A.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   6  (bases 1 to 3792)
  AUTHORS   Kawakami,A., Tani,M., Chiba,T., Yui,K., Shinozaki,S., Nakajima,K.,
            Tanaka,A., Shimokado,K. and Yoshida,M.
  TITLE     Pitavastatin inhibits remnant lipoprotein-induced macrophage foam
            cell formation through ApoB48 receptor-dependent mechanism
  JOURNAL   Arterioscler Thromb Vasc Biol 25 (2), 424-429 (2005)
   PUBMED   15591219
  REMARK    GeneRIF: Atherogenic remnant lipoproteins induced macrophage foam
            cell formation via apoB48R, indicating a potential role of apoB48R
            in atherosclerosis.
            Erratum:[Arterioscler Thromb Vasc Biol. 2013 Jun;33(6):e118]
REFERENCE   7  (bases 1 to 3792)
  AUTHORS   Fujita,Y., Ezura,Y., Bujo,H., Nakajima,T., Takahashi,K.,
            Kamimura,K., Iino,Y., Katayama,Y., Saito,Y. and Emi,M.
  TITLE     Association of nucleotide variations in the apolipoprotein B48
            receptor gene (APOB48R) with hypercholesterolemia
  JOURNAL   J Hum Genet 50 (4), 203-209 (2005)
   PUBMED   15830122
  REMARK    GeneRIF: Nucleotide variations in the apolipoprotein B48 receptor
            gene is associated with hypercholesterolemia
REFERENCE   8  (bases 1 to 3792)
  AUTHORS   Brown,M.L., Ramprasad,M.P., Umeda,P.K., Tanaka,A., Kobayashi,Y.,
            Watanabe,T., Shimoyamada,H., Kuo,W.L., Li,R., Song,R., Bradley,W.A.
            and Gianturco,S.H.
  TITLE     A macrophage receptor for apolipoprotein B48: cloning, expression,
            and atherosclerosis
  JOURNAL   Proc Natl Acad Sci U S A 97 (13), 7488-7493 (2000)
   PUBMED   10852956
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC138894.2.
            
            On or before Dec 3, 2024 this sequence version replaced
            NM_001424171.1, NM_018690.3.
            
            Summary: Apolipoprotein B48 receptor is a macrophage receptor that
            binds to the apolipoprotein B48 of dietary triglyceride (TG)-rich
            lipoproteins. This receptor may provide essential lipids,
            lipid-soluble vitamins and other nutrients to reticuloendothelial
            cells. If overwhelmed with elevated plasma triglyceride, the
            apolipoprotein B48 receptor may contribute to foam cell formation,
            endothelial dysfunction, and atherothrombogenesis. [provided by
            RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1965299,
                              SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000564831.6/ ENSP00000457539.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-96                AC138894.2         35246-35341         c
            97-2994             AC138894.2         31988-34885         c
            2995-3263           AC138894.2         31635-31903         c
            3264-3792           AC138894.2         31020-31548         c
FEATURES             Location/Qualifiers
     source          1..3792
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.1"
     gene            1..3792
                     /gene="APOBR"
                     /gene_synonym="APOB100R; APOB48R"
                     /note="apolipoprotein B receptor"
                     /db_xref="GeneID:55911"
                     /db_xref="HGNC:HGNC:24087"
                     /db_xref="MIM:605220"
     exon            1..96
                     /gene="APOBR"
                     /gene_synonym="APOB100R; APOB48R"
                     /inference="alignment:Splign:2.1.0"
     CDS             40..3333
                     /gene="APOBR"
                     /gene_synonym="APOB100R; APOB48R"
                     /note="apolipoprotein B100 receptor; apolipoprotein B48
                     receptor; apolipoprotein B-100 receptor; apolipoprotein
                     B-48 receptor; apoB-48R"
                     /codon_start=1
                     /product="apolipoprotein B receptor"
                     /protein_id="NP_061160.3"
                     /db_xref="CCDS:CCDS58442.1"
                     /db_xref="GeneID:55911"
                     /db_xref="HGNC:HGNC:24087"
                     /db_xref="MIM:605220"
                     /translation="MDFLRLYLPGLHQALRGALDSLGTFVSYLLGDAVPTVEREAQAA
                     EELGVVAVGKTGKIVEEEAQEDLEGLRGSQNEGAGRLRGPGDDRRHEVGSSAVEQTWG
                     WGDGSSHGSQAERQDSGAGETAKAARCQEPSAHLEARKKSKAGSGACQDRSGQAQERQ
                     ESHEQEVNREERLRSWEQEEEEEEVRAREPGMARGAESEWTWHGETEGKAGAVGPKAA
                     GDNREMEQGVREADAGETEEPGAEGAGKGEEVVVVEKACESTRAWGTWGPGAEPEDWG
                     ILGREEARTTPGREEARAILDGEEARTISGGEEAETASGGEEAETASGGEEAGTASGG
                     EEAGIASGGEAGTASGGEEAGTASGGEEAGTASGGDEAWTTSGKEEADLLGVRQTEYG
                     AVPGERLLEATGKVWVLEEEGDEEREAEVSPFPKQPQVLGTERTEEAAESQTAGREAV
                     GGQEAGESFEGQVDLRGKEAEMRQDLGIRADRARMEELVQAEEAQEERGSSRDPVAEL
                     PSDGEAEGTADLEATPEARPEEELTGEESEAAQTSCGLLGVEWGGLTHSVTKGQGPEL
                     MGGAQTPTKQPEEREAGEVELMGVLALSKEEQERSLEAGPRHAGSVKPEASEAFPGAW
                     ENRTRKDMERGNTQEDAADGEQREEEETAGGQTLAAEAEGDRESELSEVPEAGGEGLT
                     TQDAGCGTEEGEASVSENQELDGSTGADAGPCPSLGEAYARETEDEEAEADRTSRRGW
                     RLQAVAVGLPDREDAQTGSVAAGIMGGDVVPHISAAGAGEALEGVLGQGWDSKEKEEA
                     AAGEHAGGQEFGLEGSAEEEVTGRGSQVEAFESREGGPWGGRVEAEESAGAEDSCGLD
                     PAGSQTARAEGMGAMVEAGGLLEKWTLLEEEAVGWQEREQREDSEGRCGDYHPEGEAP
                     RLLDAEGLMVTGGRRAEAKETEPESLEHVRGQEEQPTHQAPAEAAPESVGEAETAEAM
                     GSARGGAANSWSEAPLPGSLLDVSVPRSRVHLSRSSSQRRSRPSFRRTPAWEQQEEPP
                     APNPPEEELSAPEQRPLQLEEPLEPSPLRHDGTPVPARRRPLGHGFGLAHPGMMQELQ
                     ARLGRPKPQ"
     exon            97..2994
                     /gene="APOBR"
                     /gene_synonym="APOB100R; APOB48R"
                     /inference="alignment:Splign:2.1.0"
     exon            2995..3263
                     /gene="APOBR"
                     /gene_synonym="APOB100R; APOB48R"
                     /inference="alignment:Splign:2.1.0"
     exon            3264..3792
                     /gene="APOBR"
                     /gene_synonym="APOB100R; APOB48R"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3756..3761
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APOBR"
                     /gene_synonym="APOB100R; APOB48R"
                     /note="hexamer: AATAAA"
     regulatory      3764..3769
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APOBR"
                     /gene_synonym="APOB100R; APOB48R"
                     /note="hexamer: AATAAA"
     polyA_site      3777
                     /gene="APOBR"
                     /gene_synonym="APOB100R; APOB48R"
                     /note="major polyA site"
     polyA_site      3792
                     /gene="APOBR"
                     /gene_synonym="APOB100R; APOB48R"
                     /note="major polyA site"
ORIGIN      
        1 attatcagct ttctggacac acagacagag acagacagga tggacttcct ccggctatac
       61 ctccctgggc tgcaccaggc cttgaggggg gcactggatt ccctcggcac ctttgtctcc
      121 tacctcctgg gagatgcagt ccccactgta gagcgggagg cgcaggcggc tgaggaactg
      181 ggggtggtgg cggtgggaaa gacagggaag attgtagagg aggaagccca ggaggacctg
      241 gagggcctta gaggcagcca aaacgagggg gctggaaggc tgagagggcc tggagatgac
      301 agaagacatg aagtggggag ctcagctgta gaacagacct ggggctgggg agatggcagc
      361 tcccatgggt cccaagcaga gaggcaggac agtggggctg gggagacagc caaggctgcc
      421 aggtgccagg agccaagcgc ccacttggag gccagaaaga aatccaaggc agggtctggg
      481 gcttgccaag acaggagcgg ccaagcccag gagaggcagg agtcccatga gcaggaagtg
      541 aacagagaag agaggctgag aagctgggaa caggaggagg aggaggaaga ggtcagggca
      601 agagagccag ggatggccag aggggcggag tcagagtgga cctggcatgg ggagacggag
      661 gggaaggctg gtgctgttgg gccaaaggcg gcaggggaca accgggagat ggagcagggg
      721 gtcagggagg cagatgcagg ggaaactgag gagcctgggg ccgaaggggc tgggaaagga
      781 gaagaggtgg tagtggtgga gaaggcctgt gaaagcacta gggcatgggg gacgtggggc
      841 ccaggggcag agcctgagga ctggggaatc ttaggcagag aggaggccag gacaacccca
      901 ggtagggaag aggccagggc aattttagat ggggaggaag ccaggacaat ctcaggcggg
      961 gaggaggctg agacagcctc aggcggggag gaggctgaaa cagcctcagg cggggaggag
     1021 gccgggacag cctcgggagg ggaggaggcc gggatagcct caggcgggga ggctgggaca
     1081 gcctcaggag gggaggaggc cgggacagcc tcaggagggg aggaggccgg gacagcctca
     1141 ggaggggacg aggcctggac aacctcaggc aaagaggagg ctgacctgct gggagtcaga
     1201 cagacagaat atggagcagt cccaggagaa aggctcctag aggctactgg aaaagtctgg
     1261 gtcctagagg aggaggggga tgaggagaga gaggctgagg tgagcccttt ccccaaacag
     1321 ccccaggtcc tgggcactga aagaacagaa gaggctgctg agagccagac cgcagggagg
     1381 gaagctgtgg gaggccagga ggcaggggag agctttgagg gccaggtaga cctgcgtggt
     1441 aaggaggctg agatgaggca ggacttgggg atcagggccg accgggccag gatggaagag
     1501 ctggtacagg cagaggaggc ccaggaggag agagggagca gcagggatcc agtggctgag
     1561 ctgccctcag atggagaggc tgaaggcact gccgacttgg aggcaactcc agaggccagg
     1621 cctgaggagg agctcacagg ggaggagagt gaggcggccc agactagctg tggcctactg
     1681 ggcgtggaat ggggtggcct cacacacagc gtcaccaaag gccaaggacc tgagctgatg
     1741 gggggcgccc agaccccaac taagcaaccc gaggaaaggg aggcagggga ggtggagctc
     1801 atgggagttc tggccctgag caaagaggag caggagagga gcctggaggc aggtcccagg
     1861 cacgcggggt ctgtaaagcc tgaggcctcc gaggccttcc caggagcctg ggaaaaccgc
     1921 acgagaaagg acatggagag aggaaatact caggaggatg cggccgatgg cgagcagcgg
     1981 gaggaggagg agactgcggg aggccagacc ctggcggctg aggctgaagg agaccgagag
     2041 tctgaactat cagaagtccc agaggcaggc ggggaggggc tgacaaccca ggacgcggga
     2101 tgtggaactg aggagggaga ggcatctgtc tcagagaacc aggagctgga cggaagcaca
     2161 ggggcagacg cagggccttg cccgtcactg ggagaggcct atgccagaga aactgaggat
     2221 gaggaggcgg aggctgacag aacatccaga agaggctgga ggctgcaagc ggtggctgtg
     2281 ggcctcccgg accgtgagga tgcacagact ggctctgtgg ctgctgggat tatggggggt
     2341 gatgtggtcc cacacatcag cgctgctggc gctggtgaag ctttggaagg ggtgcttggg
     2401 caaggctggg actcgaaaga aaaggaagag gcagcagcag gagagcatgc aggtgggcaa
     2461 gaatttggtc tggagggctc agcagaggaa gaggtgactg gcagaggcag ccaagtagag
     2521 gcttttgagt ccagggaggg aggaccttgg ggagggcggg tagaggccga ggaatctgca
     2581 ggcgcagagg acagctgtgg gctggatccc gcgggctccc agacagcgag ggcagagggg
     2641 atgggagcca tggtggaggc tggggggctt ctagaaaagt ggacgctgtt ggaagaagag
     2701 gctgttggat ggcaggagag agaacagagg gaagacagtg aggggcggtg tggggactac
     2761 caccctgagg gagaggcacc aaggctcctt gatgcagagg gtctcatggt gaccgggggc
     2821 cggagggcag aggccaagga gactgagcca gaaagcctgg aacatgtcag gggccaggag
     2881 gagcagccaa cacaccaggc ccctgcagaa gctgcgccgg agtcagtcgg ggaagccgag
     2941 acggctgagg ccatgggcag tgccagagga ggtgctgcca acagctggag cgaggccccg
     3001 ctccccgggt ccctcctaga cgtctctgtc ccaaggagtc gcgtgcacct ctcgagaagc
     3061 tcctcacagc gtcgctcccg gccctctttt cgtcggactc cggcctggga gcagcaggag
     3121 gagcccccag cccccaaccc tcctgaggag gagctgtcag ctcctgagca gagacccctc
     3181 cagctggagg aacccctgga gccaagccct ctgaggcatg atgggacccc ggtgccagcc
     3241 aggagaaggc ccctgggaca cgggtttggc ctcgcgcacc ctggcatgat gcaggagctg
     3301 caagcccgtc tgggccggcc taagccccag tgactgagac ccggtgctct gggagccagg
     3361 ccctgagtgg gtgccagaag gcttgctcca atgccactga gccctgctcc ctctgccact
     3421 gtggacacat cctctccacc ctctgggcct cagtgtcttg atgtatcatt catggagcag
     3481 gcaaaaccag acgtctggga agaccgtgaa cttaaggagt ctgattctcc gacacaggct
     3541 ggtggaccac ctaccccact gagaccacct ctcagggtgc ctgccctggt tcctccccag
     3601 cctgagtcag ctgtctggac tgcaaggagg ctgggcacgg gggctcacgc ctgtcacccc
     3661 agagctttgg gaggccaagg tgggaggatc gcttgagacc aggagttcga gaccagcctg
     3721 ggcagcatag caagatcccc atcttttaaa aacaaaataa aacaataaag actgcaagga
     3781 agactgaggg aa
//
