LOCUS       NM_001195803            4639 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens low density lipoprotein receptor (LDLR), transcript
            variant 6, mRNA.
ACCESSION   NM_001195803
VERSION     NM_001195803.2
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 4639)
  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 4639)
  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 4639)
  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 4639)
  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 4639)
  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 4639)
  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 4639)
  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 4639)
  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 4639)
  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 4639)
  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 AK296312.1, AC011485.6 and
            BM785950.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001195803.1.
            
            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 (6) lacks an alternate in-frame
            exon in both the 5' and 3' coding regions, compared to variant 1.
            The encoded isoform (6) 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 :: AK296312.1, SRR18074968.4183535.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2146982, SAMEA2149004
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-967               AK296312.1         1-967
            968-968             AC011485.6         66556-66556         c
            969-1783            AK296312.1         969-1783
            1784-1784           AC011485.6         56645-56645         c
            1785-2186           AK296312.1         1785-2186
            2187-4568           AC011485.6         46161-48542         c
            4569-4639           BM785950.1         115-185
FEATURES             Location/Qualifiers
     source          1..4639
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..4639
                     /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..2135
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /note="isoform 6 precursor is encoded by transcript
                     variant 6; LDL receptor; low-density lipoprotein receptor
                     class A domain-containing protein 3"
                     /codon_start=1
                     /product="low-density lipoprotein receptor isoform 6
                     precursor"
                     /protein_id="NP_001182732.1"
                     /db_xref="CCDS:CCDS56083.1"
                     /db_xref="GeneID:3949"
                     /db_xref="HGNC:HGNC:6547"
                     /db_xref="MIM:606945"
                     /translation="MGPWGWKLRWTVALLLAAAGTAVGDRCERNEFQCQDGKCISYKW
                     VCDGSAECQDGSDESQETCLSVTCKSGDFSCGGRVNRCIPQFWRCDGQVDCDNGSDEQ
                     GCPVATCRPDEFQCSDGNCIHGSRQCDREYDCKDMSDEVGCVNVTLCEGPNKFKCHSG
                     ECITLDKVCNMARDCRDWSDEPIKECGTNECLDNNGGCSHVCNDLKIGYECLCPDGFQ
                     LVAQRRCEDIDECQDPDTCSQLCVNLEGGYKCQCEEGFQLDPHTKACKAVGSIAYLFF
                     TNRHEVRKMTLDRSEYTSLIPNLRNVVALDTEVASNRIYWSDLSQRMICSTQLDRAHG
                     VSSYDTVISRDIQAPDGLAVDWIHSNIYWTDSVLGTVSVADTKGVKRKTLFRENGSKP
                     RAIVVDPVHGFMYWTDWGTPAKIKKGGLNGVDIYSLVTENIQWPNGITLDLLSGRLYW
                     VDSKLHSISSIDVNGGNRKTILEDEKRLAHPFSLAVFEDKVFWTDIINEAIFSANRLT
                     GSDVNLLAENLLSPEDMVLFHNLTQPREAEAAVATQETSTVRLKVSSTAVRTQHTTTR
                     PVPDTSRLPGATPGLTTVEIVTMSHQALGDVAGRGNEKKPSSVRALSIVLPIVLLVFL
                     CLGVFLLWKNWRLKNINSINFDNPVYQKTTEDEVHICHNQDGYSYPSRQMVSLEDDVA
                     "
     exon            154..276
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /inference="alignment:Splign:2.1.0"
     exon            277..399
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /inference="alignment:Splign:2.1.0"
     exon            400..522
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /inference="alignment:Splign:2.1.0"
     exon            523..645
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /inference="alignment:Splign:2.1.0"
     exon            646..765
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /inference="alignment:Splign:2.1.0"
     exon            766..891
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /inference="alignment:Splign:2.1.0"
     exon            892..1063
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /inference="alignment:Splign:2.1.0"
     exon            1064..1291
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /inference="alignment:Splign:2.1.0"
     exon            1292..1410
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /inference="alignment:Splign:2.1.0"
     exon            1411..1550
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /inference="alignment:Splign:2.1.0"
     exon            1551..1692
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /inference="alignment:Splign:2.1.0"
     exon            1693..1863
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /inference="alignment:Splign:2.1.0"
     exon            1864..1941
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /inference="alignment:Splign:2.1.0"
     exon            1942..2099
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /inference="alignment:Splign:2.1.0"
     exon            2100..4639
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4617..4622
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /note="hexamer: ATTAAA"
     polyA_site      4639
                     /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 cgtgcttgtc tgtcacctgc aaatccgggg
      301 acttcagctg tgggggccgt gtcaaccgct gcattcctca gttctggagg tgcgatggcc
      361 aagtggactg cgacaacggc tcagacgagc aaggctgtcc tgtggccacc tgtcgccctg
      421 acgaattcca gtgctctgat ggaaactgca tccatggcag ccggcagtgt gaccgggaat
      481 atgactgcaa ggacatgagc gatgaagttg gctgcgttaa tgtgacactc tgcgagggac
      541 ccaacaagtt caagtgtcac agcggcgaat gcatcaccct ggacaaagtc tgcaacatgg
      601 ctagagactg ccgggactgg tcagatgaac ccatcaaaga gtgcgggacc aacgaatgct
      661 tggacaacaa cggcggctgt tcccacgtct gcaatgacct taagatcggc tacgagtgcc
      721 tgtgccccga cggcttccag ctggtggccc agcgaagatg cgaagatatc gatgagtgtc
      781 aggatcccga cacctgcagc cagctctgcg tgaacctgga gggtggctac aagtgccagt
      841 gtgaggaagg cttccagctg gacccccaca cgaaggcctg caaggctgtg ggctccatcg
      901 cctacctctt cttcaccaac cggcacgagg tcaggaagat gacgctggac cggagcgagt
      961 acaccagcct catccccaac ctgaggaacg tggtcgctct ggacacggag gtggccagca
     1021 atagaatcta ctggtctgac ctgtcccaga gaatgatctg cagcacccag cttgacagag
     1081 cccacggcgt ctcttcctat gacaccgtca tcagcagaga catccaggcc cccgacgggc
     1141 tggctgtgga ctggatccac agcaacatct actggaccga ctctgtcctg ggcactgtct
     1201 ctgttgcgga taccaagggc gtgaagagga aaacgttatt cagggagaac ggctccaagc
     1261 caagggccat cgtggtggat cctgttcatg gcttcatgta ctggactgac tggggaactc
     1321 ccgccaagat caagaaaggg ggcctgaatg gtgtggacat ctactcgctg gtgactgaaa
     1381 acattcagtg gcccaatggc atcaccctag atctcctcag tggccgcctc tactgggttg
     1441 actccaaact tcactccatc tcaagcatcg atgtcaacgg gggcaaccgg aagaccatct
     1501 tggaggatga aaagaggctg gcccacccct tctccttggc cgtctttgag gacaaagtat
     1561 tttggacaga tatcatcaac gaagccattt tcagtgccaa ccgcctcaca ggttccgatg
     1621 tcaacttgtt ggctgaaaac ctactgtccc cagaggatat ggttctcttc cacaacctca
     1681 cccagccaag agaggctgag gctgcagtgg ccacccagga gacatccacc gtcaggctaa
     1741 aggtcagctc cacagccgta aggacacagc acacaaccac ccgacctgtt cccgacacct
     1801 cccggctgcc tggggccacc cctgggctca ccacggtgga gatagtgaca atgtctcacc
     1861 aagctctggg cgacgttgct ggcagaggaa atgagaagaa gcccagtagc gtgagggctc
     1921 tgtccattgt cctccccatc gtgctcctcg tcttcctttg cctgggggtc ttccttctat
     1981 ggaagaactg gcggcttaag aacatcaaca gcatcaactt tgacaacccc gtctatcaga
     2041 agaccacaga ggatgaggtc cacatttgcc acaaccagga cggctacagc tacccctcga
     2101 gacagatggt cagtctggag gatgacgtgg cgtgaacatc tgcctggagt cccgtccctg
     2161 cccagaaccc ttcctgagac ctcgccggcc ttgttttatt caaagacaga gaagaccaaa
     2221 gcattgcctg ccagagcttt gttttatata tttattcatc tgggaggcag aacaggcttc
     2281 ggacagtgcc catgcaatgg cttgggttgg gattttggtt tcttcctttc ctcgtgaagg
     2341 ataagagaaa caggcccggg gggaccagga tgacacctcc atttctctcc aggaagtttt
     2401 gagtttctct ccaccgtgac acaatcctca aacatggaag atgaaagggg aggggatgtc
     2461 aggcccagag aagcaagtgg ctttcaacac acaacagcag atggcaccaa cgggaccccc
     2521 tggccctgcc tcatccacca atctctaagc caaaccccta aactcaggag tcaacgtgtt
     2581 tacctcttct atgcaagcct tgctagacag ccaggttagc ctttgccctg tcacccccga
     2641 atcatgaccc acccagtgtc tttcgaggtg ggtttgtacc ttccttaagc caggaaaggg
     2701 attcatggcg tcggaaatga tctggctgaa tccgtggtgg caccgagacc aaactcattc
     2761 accaaatgat gccacttccc agaggcagag cctgagtcac tggtcaccct taatatttat
     2821 taagtgcctg agacacccgg ttaccttggc cgtgaggaca cgtggcctgc acccaggtgt
     2881 ggctgtcagg acaccagcct ggtgcccatc ctcccgaccc ctacccactt ccattcccgt
     2941 ggtctccttg cactttctca gttcagagtt gtacactgtg tacatttggc atttgtgtta
     3001 ttattttgca ctgttttctg tcgtgtgtgt tgggatggga tcccaggcca gggaaagccc
     3061 gtgtcaatga atgccgggga cagagagggg caggttgacc gggacttcaa agccgtgatc
     3121 gtgaatatcg agaactgcca ttgtcgtctt tatgtccgcc cacctagtgc ttccacttct
     3181 atgcaaatgc ctccaagcca ttcacttccc caatcttgtc gttgatgggt atgtgtttaa
     3241 aacatgcacg gtgaggccgg gcgcagtggc tcacgcctgt aatcccagca ctttgggagg
     3301 ccgaggcggg tggatcatga ggtcaggaga tcgagaccat cctggctaac acgtgaaacc
     3361 ccgtctctac taaaaataca aaaaattagc cgggcgtggt ggcgggcacc tgtagtccca
     3421 gctactcggg aggctgaggc aggagaatgg tgtgaacccg ggaagcggag cttgcagtga
     3481 gccgagattg cgccactgca gtccgcagtc tggcctgggc gacagagcga gactccgtct
     3541 caaaaaaaaa aaacaaaaaa aaaccatgca tggtgcatca gcagcccatg gcctctggcc
     3601 aggcatggcg aggctgaggt gggaggatgg tttgagctca ggcatttgag gctgtcgtga
     3661 gctatgatta tgccactgct ttccagcctg ggcaacatag taagacccca tctcttaaaa
     3721 aatgaatttg gccagacaca ggtgcctcac gcctgtaatc ccagcacttt gggaggctga
     3781 gctggatcac ttgagttcag gagttggaga ccaggcctga gcaacaaagc gagatcccat
     3841 ctctacaaaa accaaaaagt taaaaatcag ctgggtacgg tggcacgtgc ctgtgatccc
     3901 agctacttgg gaggctgagg caggaggatc gcctgagccc aggaggtgga ggttgcagtg
     3961 agccatgatc gagccactgc actccagcct gggcaacaga tgaagaccct atttcagaaa
     4021 tacaactata aaaaaataaa taaatcctcc agtctggatc gtttgacggg acttcaggtt
     4081 ctttctgaaa tcgccgtgtt actgttgcac tgatgtccgg agagacagtg acagcctccg
     4141 tcagactccc gcgtgaagat gtcacaaggg attggcaatt gtccccaggg acaaaacact
     4201 gtgtcccccc cagtgcaggg aaccgtgata agcctttctg gtttcggagc acgtaaatgc
     4261 gtccctgtac agatagtggg gattttttgt tatgtttgca ctttgtatat tggttgaaac
     4321 tgttatcact tatatatata tatatacaca catatatata aaatctattt atttttgcaa
     4381 accctggttg ctgtatttgt tcagtgacta ttctcggggc cctgtgtagg gggttattgc
     4441 ctctgaaatg cctcttcttt atgtacaaag attatttgca cgaactggac tgtgtgcaac
     4501 gctttttggg agaatgatgt ccccgttgta tgtatgagtg gcttctggga gatgggtgtc
     4561 actttttaaa ccactgtata gaaggttttt gtagcctgaa tgtcttactg tgatcaatta
     4621 aatttcttaa atgaaccaa
//
