LOCUS       NM_001195799            5050 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens low density lipoprotein receptor (LDLR), transcript
            variant 3, mRNA.
ACCESSION   NM_001195799
VERSION     NM_001195799.2
KEYWORDS    RefSeq.
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 5050)
  AUTHORS   Mahsoub,N., Almenshawy,A., Taki Eldin,A.M., Abdel Hay,N.M.,
            Youssef,A.R., El-Farahaty,R.M., El-Sayed,K., Osman,A.M. and
            Elhennawy,E.S.
  TITLE     Association between Apo B, LDL-R and PCSK9 gene polymorphisms with
            coronary artery diseases in Egyptians
  JOURNAL   Mol Biol Rep 51 (1), 752 (2024)
   PUBMED   38874786
  REMARK    GeneRIF: Association between Apo B, LDL-R and PCSK9 gene
            polymorphisms with coronary artery diseases in Egyptians.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5050)
  AUTHORS   Deng,J., Zhang,J., Meng,S., Ding,N., Hao,Y., Zeng,H. and Lin,J.
  TITLE     LDLR c.89_92dup: a novel frameshift variation in familial
            hypercholesterolemia
  JOURNAL   Lipids Health Dis 23 (1), 182 (2024)
   PUBMED   38867270
  REMARK    GeneRIF: LDLR c.89_92dup: a novel frameshift variation in familial
            hypercholesterolemia.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5050)
  AUTHORS   Silva Rodrigues Marcal,E.D., Borges,J.B., Bastos,G.M., Crespo
            Hirata,T.D., de Oliveira,V.F., Goncalves,R.M., Faludi,A.A., Dias
            Franca,J.I., de Oliveira Silva,D.V., Malaquias,V.B., Luchessi,A.D.,
            Silbiger,V.N., Nakazone,M.A., Carmo,T.S., Silva Souza,D.R.,
            Sampaio,M.F., Crespo Hirata,R.D. and Hirata,M.H.
  TITLE     Methylation status of LDLR, PCSK9 and LDLRAP1 is associated with
            cardiovascular events in familial hypercholesterolemia
  JOURNAL   Epigenomics 16 (11-12), 809-820 (2024)
   PUBMED   38884343
  REMARK    GeneRIF: Methylation status of LDLR, PCSK9 and LDLRAP1 is
            associated with cardiovascular events in familial
            hypercholesterolemia.
REFERENCE   4  (bases 1 to 5050)
  AUTHORS   Ison,H.E., Clarke,S.L. and Knowles,J.W.
  TITLE     Familial Hypercholesterolemia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24404629
REFERENCE   5  (bases 1 to 5050)
  AUTHORS   Hobbs,H.H., Brown,M.S. and Goldstein,J.L.
  TITLE     Molecular genetics of the LDL receptor gene in familial
            hypercholesterolemia
  JOURNAL   Hum Mutat 1 (6), 445-466 (1992)
   PUBMED   1301956
  REMARK    Review article
REFERENCE   6  (bases 1 to 5050)
  AUTHORS   Lindgren,V., Luskey,K.L., Russell,D.W. and Francke,U.
  TITLE     Human genes involved in cholesterol metabolism: chromosomal mapping
            of the loci for the low density lipoprotein receptor and
            3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes
  JOURNAL   Proc Natl Acad Sci U S A 82 (24), 8567-8571 (1985)
   PUBMED   3866240
REFERENCE   7  (bases 1 to 5050)
  AUTHORS   Sudhof,T.C., Goldstein,J.L., Brown,M.S. and Russell,D.W.
  TITLE     The LDL receptor gene: a mosaic of exons shared with different
            proteins
  JOURNAL   Science 228 (4701), 815-822 (1985)
   PUBMED   2988123
REFERENCE   8  (bases 1 to 5050)
  AUTHORS   Yamamoto,T., Davis,C.G., Brown,M.S., Schneider,W.J., Casey,M.L.,
            Goldstein,J.L. and Russell,D.W.
  TITLE     The human LDL receptor: a cysteine-rich protein with multiple Alu
            sequences in its mRNA
  JOURNAL   Cell 39 (1), 27-38 (1984)
   PUBMED   6091915
REFERENCE   9  (bases 1 to 5050)
  AUTHORS   Brown,M.S. and Goldstein,J.L.
  TITLE     Receptor-mediated endocytosis: insights from the lipoprotein
            receptor system
  JOURNAL   Proc Natl Acad Sci U S A 76 (7), 3330-3337 (1979)
   PUBMED   226968
  REMARK    Review article
REFERENCE   10 (bases 1 to 5050)
  AUTHORS   Goldstein,J.L., Anderson,R.G. and Brown,M.S.
  TITLE     Coated pits, coated vesicles, and receptor-mediated endocytosis
  JOURNAL   Nature 279 (5715), 679-685 (1979)
   PUBMED   221835
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK300313.1, AC011485.6 and
            BM785950.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001195799.1.
            
            Summary: The low density lipoprotein receptor (LDLR) gene family
            consists of cell surface proteins involved in receptor-mediated
            endocytosis of specific ligands. The encoded protein is normally
            bound at the cell membrane, where it binds low density
            lipoprotein/cholesterol and is taken into the cell. Lysosomes
            release the cholesterol, which is made available for repression of
            microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA)
            reductase, the rate-limiting step in cholesterol synthesis. At the
            same time, a reciprocal stimulation of cholesterol ester synthesis
            takes place. Mutations in this gene cause the autosomal dominant
            disorder, familial hypercholesterolemia. Alternate splicing results
            in multiple transcript variants.[provided by RefSeq, May 2022].
            
            Transcript Variant: This variant (3) lacks an alternate in-frame
            exon in the 5' coding region, compared to variant 1. The encoded
            isoform (3) is shorter than 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 :: AK300313.1, SRR1803611.264323.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145122, SAMEA2146982
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1375              AK300313.1         1-1375
            1376-1376           AC011485.6         66321-66321         c
            1377-1735           AK300313.1         1377-1735
            1736-1736           AC011485.6         62984-62984         c
            1737-1921           AK300313.1         1737-1921
            1922-1922           AC011485.6         59705-59705         c
            1923-2194           AK300313.1         1923-2194
            2195-2195           AC011485.6         56645-56645         c
            2196-2320           AK300313.1         2196-2320
            2321-2321           AC011485.6         51856-51856         c
            2322-2628           AK300313.1         2322-2628
            2629-4979           AC011485.6         46161-48511         c
            4980-5050           BM785950.1         115-185
FEATURES             Location/Qualifiers
     source          1..5050
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..5050
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /note="low density lipoprotein receptor"
                     /db_xref="GeneID:3949"
                     /db_xref="HGNC:HGNC:6547"
                     /db_xref="MIM:606945"
     exon            1..153
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /inference="alignment:Splign:2.1.0"
     CDS             87..2546
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 3; LDL receptor; low-density lipoprotein receptor
                     class A domain-containing protein 3"
                     /codon_start=1
                     /product="low-density lipoprotein receptor isoform 3
                     precursor"
                     /protein_id="NP_001182728.1"
                     /db_xref="CCDS:CCDS56085.1"
                     /db_xref="GeneID:3949"
                     /db_xref="HGNC:HGNC:6547"
                     /db_xref="MIM:606945"
                     /translation="MGPWGWKLRWTVALLLAAAGTAVGDRCERNEFQCQDGKCISYKW
                     VCDGSAECQDGSDESQETCSPKTCSQDEFRCHDGKCISRQFVCDSDRDCLDGSDEASC
                     PVLTCGPASFQCNSSTCIPQLWACDNDPDCEDGSDEWPQRCRGLYVFQGDSSPCSAFE
                     FHCLSGECIHSSWRCDGGPDCKDKSDEENCAVATCRPDEFQCSDGNCIHGSRQCDREY
                     DCKDMSDEVGCVNVTLCEGPNKFKCHSGECITLDKVCNMARDCRDWSDEPIKECGTNE
                     CLDNNGGCSHVCNDLKIGYECLCPDGFQLVAQRRCEDIDECQDPDTCSQLCVNLEGGY
                     KCQCEEGFQLDPHTKACKAVGSIAYLFFTNRHEVRKMTLDRSEYTSLIPNLRNVVALD
                     TEVASNRIYWSDLSQRMICSTQLDRAHGVSSYDTVISRDIQAPDGLAVDWIHSNIYWT
                     DSVLGTVSVADTKGVKRKTLFRENGSKPRAIVVDPVHGFMYWTDWGTPAKIKKGGLNG
                     VDIYSLVTENIQWPNGITLDLLSGRLYWVDSKLHSISSIDVNGGNRKTILEDEKRLAH
                     PFSLAVFEDKVFWTDIINEAIFSANRLTGSDVNLLAENLLSPEDMVLFHNLTQPRGVN
                     WCERTTLSNGGCQYLCLPAPQINPHSPKFTCACPDGMLLARDMRSCLTEAEAAVATQE
                     TSTVRLKVSSTAVRTQHTTTRPVPDTSRLPGATPGLTTVEIVTMSHQALGDVAGRGNE
                     KKPSSVRALSIVLPIVLLVFLCLGVFLLWKNWRLKNINSINFDNPVYQKTTEDEVHIC
                     HNQDGYSYPSRQMVSLEDDVA"
     exon            154..276
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /inference="alignment:Splign:2.1.0"
     exon            277..657
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /inference="alignment:Splign:2.1.0"
     exon            658..780
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /inference="alignment:Splign:2.1.0"
     exon            781..903
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /inference="alignment:Splign:2.1.0"
     exon            904..1023
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /inference="alignment:Splign:2.1.0"
     exon            1024..1149
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /inference="alignment:Splign:2.1.0"
     exon            1150..1321
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /inference="alignment:Splign:2.1.0"
     exon            1322..1549
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /inference="alignment:Splign:2.1.0"
     exon            1550..1668
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /inference="alignment:Splign:2.1.0"
     exon            1669..1808
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /inference="alignment:Splign:2.1.0"
     exon            1809..1950
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /inference="alignment:Splign:2.1.0"
     exon            1951..2103
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /inference="alignment:Splign:2.1.0"
     exon            2104..2274
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /inference="alignment:Splign:2.1.0"
     exon            2275..2352
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /inference="alignment:Splign:2.1.0"
     exon            2353..2510
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /inference="alignment:Splign:2.1.0"
     exon            2511..5050
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5028..5033
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /note="hexamer: ATTAAA"
     polyA_site      5050
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /note="major polyA site"
ORIGIN      
        1 gtgcaatcgc gggaagccag ggtttccagc taggacacag caggtcgtga tccgggtcgg
       61 gacactgcct ggcagaggct gcgagcatgg ggccctgggg ctggaaattg cgctggaccg
      121 tcgccttgct cctcgccgcg gcggggactg cagtgggcga cagatgcgaa agaaacgagt
      181 tccagtgcca agacgggaaa tgcatctcct acaagtgggt ctgcgatggc agcgctgagt
      241 gccaggatgg ctctgatgag tcccaggaga cgtgctcccc caagacgtgc tcccaggacg
      301 agtttcgctg ccacgatggg aagtgcatct ctcggcagtt cgtctgtgac tcagaccggg
      361 actgcttgga cggctcagac gaggcctcct gcccggtgct cacctgtggt cccgccagct
      421 tccagtgcaa cagctccacc tgcatccccc agctgtgggc ctgcgacaac gaccccgact
      481 gcgaagatgg ctcggatgag tggccgcagc gctgtagggg tctttacgtg ttccaagggg
      541 acagtagccc ctgctcggcc ttcgagttcc actgcctaag tggcgagtgc atccactcca
      601 gctggcgctg tgatggtggc cccgactgca aggacaaatc tgacgaggaa aactgcgctg
      661 tggccacctg tcgccctgac gaattccagt gctctgatgg aaactgcatc catggcagcc
      721 ggcagtgtga ccgggaatat gactgcaagg acatgagcga tgaagttggc tgcgttaatg
      781 tgacactctg cgagggaccc aacaagttca agtgtcacag cggcgaatgc atcaccctgg
      841 acaaagtctg caacatggct agagactgcc gggactggtc agatgaaccc atcaaagagt
      901 gcgggaccaa cgaatgcttg gacaacaacg gcggctgttc ccacgtctgc aatgacctta
      961 agatcggcta cgagtgcctg tgccccgacg gcttccagct ggtggcccag cgaagatgcg
     1021 aagatatcga tgagtgtcag gatcccgaca cctgcagcca gctctgcgtg aacctggagg
     1081 gtggctacaa gtgccagtgt gaggaaggct tccagctgga cccccacacg aaggcctgca
     1141 aggctgtggg ctccatcgcc tacctcttct tcaccaaccg gcacgaggtc aggaagatga
     1201 cgctggaccg gagcgagtac accagcctca tccccaacct gaggaacgtg gtcgctctgg
     1261 acacggaggt ggccagcaat agaatctact ggtctgacct gtcccagaga atgatctgca
     1321 gcacccagct tgacagagcc cacggcgtct cttcctatga caccgtcatc agcagagaca
     1381 tccaggcccc cgacgggctg gctgtggact ggatccacag caacatctac tggaccgact
     1441 ctgtcctggg cactgtctct gttgcggata ccaagggcgt gaagaggaaa acgttattca
     1501 gggagaacgg ctccaagcca agggccatcg tggtggatcc tgttcatggc ttcatgtact
     1561 ggactgactg gggaactccc gccaagatca agaaaggggg cctgaatggt gtggacatct
     1621 actcgctggt gactgaaaac attcagtggc ccaatggcat caccctagat ctcctcagtg
     1681 gccgcctcta ctgggttgac tccaaacttc actccatctc aagcatcgat gtcaacgggg
     1741 gcaaccggaa gaccatcttg gaggatgaaa agaggctggc ccaccccttc tccttggccg
     1801 tctttgagga caaagtattt tggacagata tcatcaacga agccattttc agtgccaacc
     1861 gcctcacagg ttccgatgtc aacttgttgg ctgaaaacct actgtcccca gaggatatgg
     1921 ttctcttcca caacctcacc cagccaagag gagtgaactg gtgtgagagg accaccctga
     1981 gcaatggcgg ctgccagtat ctgtgcctcc ctgccccgca gatcaacccc cactcgccca
     2041 agtttacctg cgcctgcccg gacggcatgc tgctggccag ggacatgagg agctgcctca
     2101 cagaggctga ggctgcagtg gccacccagg agacatccac cgtcaggcta aaggtcagct
     2161 ccacagccgt aaggacacag cacacaacca cccgacctgt tcccgacacc tcccggctgc
     2221 ctggggccac ccctgggctc accacggtgg agatagtgac aatgtctcac caagctctgg
     2281 gcgacgttgc tggcagagga aatgagaaga agcccagtag cgtgagggct ctgtccattg
     2341 tcctccccat cgtgctcctc gtcttccttt gcctgggggt cttccttcta tggaagaact
     2401 ggcggcttaa gaacatcaac agcatcaact ttgacaaccc cgtctatcag aagaccacag
     2461 aggatgaggt ccacatttgc cacaaccagg acggctacag ctacccctcg agacagatgg
     2521 tcagtctgga ggatgacgtg gcgtgaacat ctgcctggag tcccgtccct gcccagaacc
     2581 cttcctgaga cctcgccggc cttgttttat tcaaagacag agaagaccaa agcattgcct
     2641 gccagagctt tgttttatat atttattcat ctgggaggca gaacaggctt cggacagtgc
     2701 ccatgcaatg gcttgggttg ggattttggt ttcttccttt cctcgtgaag gataagagaa
     2761 acaggcccgg ggggaccagg atgacacctc catttctctc caggaagttt tgagtttctc
     2821 tccaccgtga cacaatcctc aaacatggaa gatgaaaggg gaggggatgt caggcccaga
     2881 gaagcaagtg gctttcaaca cacaacagca gatggcacca acgggacccc ctggccctgc
     2941 ctcatccacc aatctctaag ccaaacccct aaactcagga gtcaacgtgt ttacctcttc
     3001 tatgcaagcc ttgctagaca gccaggttag cctttgccct gtcacccccg aatcatgacc
     3061 cacccagtgt ctttcgaggt gggtttgtac cttccttaag ccaggaaagg gattcatggc
     3121 gtcggaaatg atctggctga atccgtggtg gcaccgagac caaactcatt caccaaatga
     3181 tgccacttcc cagaggcaga gcctgagtca ctggtcaccc ttaatattta ttaagtgcct
     3241 gagacacccg gttaccttgg ccgtgaggac acgtggcctg cacccaggtg tggctgtcag
     3301 gacaccagcc tggtgcccat cctcccgacc cctacccact tccattcccg tggtctcctt
     3361 gcactttctc agttcagagt tgtacactgt gtacatttgg catttgtgtt attattttgc
     3421 actgttttct gtcgtgtgtg ttgggatggg atcccaggcc agggaaagcc cgtgtcaatg
     3481 aatgccgggg acagagaggg gcaggttgac cgggacttca aagccgtgat cgtgaatatc
     3541 gagaactgcc attgtcgtct ttatgtccgc ccacctagtg cttccacttc tatgcaaatg
     3601 cctccaagcc attcacttcc ccaatcttgt cgttgatggg tatgtgttta aaacatgcac
     3661 ggtgaggccg ggcgcagtgg ctcacgcctg taatcccagc actttgggag gccgaggcgg
     3721 gtggatcatg aggtcaggag atcgagacca tcctggctaa cacgtgaaac cccgtctcta
     3781 ctaaaaatac aaaaaattag ccgggcgtgg tggcgggcac ctgtagtccc agctactcgg
     3841 gaggctgagg caggagaatg gtgtgaaccc gggaagcgga gcttgcagtg agccgagatt
     3901 gcgccactgc agtccgcagt ctggcctggg cgacagagcg agactccgtc tcaaaaaaaa
     3961 aaaacaaaaa aaaaccatgc atggtgcatc agcagcccat ggcctctggc caggcatggc
     4021 gaggctgagg tgggaggatg gtttgagctc aggcatttga ggctgtcgtg agctatgatt
     4081 atgccactgc tttccagcct gggcaacata gtaagacccc atctcttaaa aaatgaattt
     4141 ggccagacac aggtgcctca cgcctgtaat cccagcactt tgggaggctg agctggatca
     4201 cttgagttca ggagttggag accaggcctg agcaacaaag cgagatccca tctctacaaa
     4261 aaccaaaaag ttaaaaatca gctgggtacg gtggcacgtg cctgtgatcc cagctacttg
     4321 ggaggctgag gcaggaggat cgcctgagcc caggaggtgg aggttgcagt gagccatgat
     4381 cgagccactg cactccagcc tgggcaacag atgaagaccc tatttcagaa atacaactat
     4441 aaaaaaataa ataaatcctc cagtctggat cgtttgacgg gacttcaggt tctttctgaa
     4501 atcgccgtgt tactgttgca ctgatgtccg gagagacagt gacagcctcc gtcagactcc
     4561 cgcgtgaaga tgtcacaagg gattggcaat tgtccccagg gacaaaacac tgtgtccccc
     4621 ccagtgcagg gaaccgtgat aagcctttct ggtttcggag cacgtaaatg cgtccctgta
     4681 cagatagtgg ggattttttg ttatgtttgc actttgtata ttggttgaaa ctgttatcac
     4741 ttatatatat atatatacac acatatatat aaaatctatt tatttttgca aaccctggtt
     4801 gctgtatttg ttcagtgact attctcgggg ccctgtgtag ggggttattg cctctgaaat
     4861 gcctcttctt tatgtacaaa gattatttgc acgaactgga ctgtgtgcaa cgctttttgg
     4921 gagaatgatg tccccgttgt atgtatgagt ggcttctggg agatgggtgt cactttttaa
     4981 accactgtat agaaggtttt tgtagcctga atgtcttact gtgatcaatt aaatttctta
     5041 aatgaaccaa
//
