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Gene Model: Ldlr

NomenclatureGenomic Location
SymbolLdlrChromosome1
NameLow-density lipoprotein receptorLinkage mapunknown
SpeciesDracomimus familiarisGenome CoordinatesChr1: 83 Mbp

Molecular Function

Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits.

Molecular Function Terms:

binding
   protein-lipid complex binding
      lipoprotein particle binding
         lipoprotein particle receptor activity
         low-density lipoprotein particle binding

receptor activity
   cargo receptor activity
      lipoprotein particle receptor activity

Human Disease Association

Defects in LDLR are the cause of familial hypercholesterolemia (FH) [MIM:143890]; a common autosomal semi-dominant disease that affects about 1 in 500 individuals. The receptor defect impairs the catabolism of LDL, and the resultant elevation in plasma LDL-cholesterol promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and coronary arteries (atherosclerosis).

Predicted Transcript
     1 GCAGCTGTGAGTTTATGTGGAAGAAATGAGTTTCAGTGTGGGAATAGAGACTGCATCCCT
     1 GCAGCTGTGAGTTTATGTGGAAGAAATGAGTTTCAGTGTGGGAATAGAGACTGCATCCCT
    61 TACAAATGGATTTGTGATGGCAAAGCTGAATGCCAAGATGGTTCTGATGAGTCTCTGGAT
   121 ACCTGCAAATCTGTTACCTGTGATCCAGGCCAATTCAGCTGTGGTGGCCGCGTAAATCGT
   181 TGTATCAATATGAGCTGGCGATGTGACTCTCAAACTGATTGTGAAAATGGCTCTGATGAA
   241 GAGAACTGCCCCCCTAAAACCTGTGCGGATAATGAATTTCAATGCAAAAATGGGAATTGT
   301 ATTACTCTGGACTTTGTTTGTGATGAAGACCGTGACTGTGAAGATGGGAGTGATGAAGAA
   361 CACTGTTCTCCCCCAACCTGTAACCCCGAAATGTTTCACTGCAACAGCTCAGAATGCATC
   421 CCTAAACTTTGGGCATGTGACAATGATGCGGACTGTAAGGATGGGTCGGATGAATCACCA
   481 GTACTCTGTGGGAAGCAAGTGACCAACCCCTGCTCCCCACTGGAGTTCCACTGTGGCAGT
   541 GGCGAATGCATCCATCAGAGTTGGAAGTGCGATGGTAGCTTTGACTGCAAAGACAGATCA
   601 GATGAGGCAAATTGTGCAAAAGTCACGTGCCGACCAGATCAGTTTGAATGTAATGATGGC
   661 ACTTGCATCCATGGAAGTCTTCAGTGCAACAAGGAAAATGACTGCAAAGATATGAGTGAT
   721 GAGGTTGGCTGTATCAATGTGACAACATGCAAAGGACCAAATATATTTAAATGTGGCTCT
   781 GGAGAATGTATCACTATGGACAAAGTCTGCAATGGCCTGAAGGACTGCAGGGATTGGTCT
   841 GACGAGCCCCTCAAGGAGTGCCGAACCAATGAATGTCTGGCCAAGAAGGGTGGTTGTTCC
   901 CACATATGTAATGACCTCAAAATTGGATATGAGTGCTTATGTCCTGAAGGCTTCCATTTG
   961 ATTGACCAAAGAAAATGTGAAGATATCAATGAGTGTCTCAACCCTGATACCTGTAGCCAA
  1021 AGTTGTGTGAACCTGGAAGGAAGCTATAAGTGTGAATGTAAAGAAGGCTACCAGATTGAC
  1081 CCTGTGACAAAGACCTGCAAAGCCATTGGCACCATTGCATATCTCTTCTTTACCAATCGC
  1141 CATGAGGTCAGGAAGATGACTCTGGATCGCAGTGAGTACACGAGTCTGATCCCCAAACTC
  1201 AAAAATGCAGTGGCCTTGGACATGGAAGTTTCCAACAACAAAATCTACTGGTCTGACAGC
  1261 TCTCAGAAGAAAATATTTAGCACCCCAATAGATACAGCTCACAACCACTCCCATCATACT
  1321 ACAGTGATTGATAGTGGCATCCGATTCCCAGATGGCCTAGCTGTTGACTGGATACATGGC
  1381 AACATTTACTGGACTGACTCAGGGCTGGGCAGCATTTCTGTGGCCAACAGCGAAGGCTCA
  1441 AAGAGGAAAATGCTGATCAAGGAACTTGGTGCCAAGCCACGAGCAATTGTGGTGGATCCA
  1501 GTTCGTGGGTTCATGTACTGGACTGACTGGGGCATATCTGCTAAAATCGCCAAAAGTGGC
  1561 TTGAATGGAGTGGATAACTTTCCTTTGGTGACAGAAGGCATTCAGTGGCCTAATGGAATA
  1621 ACACTTGACTTGGTCAACCAGCGTCTCTACTGGGTAGACTCCAAGTACCACTCGGTATTC
  1681 AGCATTGGTGTGGATGGGGAAAACAGGAAGACCATTCTTATGAATGAGGAGAAATTGGCT
  1741 CATCCTTTTGCCATCACAGTCTTTGAGGATAAAGTGTTCTGGACAGATGTCATCAACGAA
  1801 GCTATTTTCAGCGCCAACCGCTTGACAGGCTCAGATATCACCAAGGTGGCACAGGACCTA
  1861 TTTTCCCCAGAGGATTTGGCTCTTTTCCACTCTGTGCGGCAACCAAAAGGTGTGAATTGG
  1921 TGTGAAAGGAGTGGCATGACTAATGGTGGTTGCCAGTACCTATGCCTTCCTGCCCCACAA
  1981 ATCACCCTCCATTCTGCCAAGTACACCTGTGCCTGTCCTGATGGCATGTACCTAGCCAGA
  2041 GACATGAGAAGCTGCACAACAGATCCTGTTGTCCCCAGTACCCGAGCTCCGGTTCCCAAT
  2101 ATCTCAACTCCTGTTCCCGATATCCCAGCTCCTGTCAATGTCACAGAGCAGCCATCCATC
  2161 ACAAGGATTACACCTAAGATTCCAAGGCTGATAAATGAATCTGCCCCTGTCACCCCTGAA
  2221 CATACCACCCCTGAAATGGTCACCCTTTCTCAGAAAGCTCAAAATGGGATTGCTGCAGAA
  2281 ATAGACGGGGCTAAACAGAGGGGCCCACCAGCGCTTTCTATTGTCCTACCATTAGTCTTA
  2341 ATTTGTCTAGTCTCTTTTGGGGCTTACCTTGTTTGGAAGAATTGGCGACTCAAGAACACC
  2401 AACAGTATCAACTTTGACAACCCTGTCTATCAGAAGACGACAGAGGATGAGATTCACATT
  2461 TGTCGGAGTCAGGAAGGGTACACATATCCATCGAGACAGATGGTCAGCCTGGAGGATGAT
  2521 GCTGCATGA

Predicted Protein Product
AAVSLCGRNEFQCGNRDCIPYKWICDGKAECQDGSDESLDTCKSVTCDPGQFSCGGRVNR
CINMSWRCDSQTDCENGSDEENCPPKTCADNEFQCKNGNCITLDFVCDEDRDCEDGSDEE
HCSPPTCNPEMFHCNSSECIPKLWACDNDADCKDGSDESPVLCGKQVTNPCSPLEFHCGS
GECIHQSWKCDGSFDCKDRSDEANCAKVTCRPDQFECNDGTCIHGSLQCNKENDCKDMSD
EVGCINVTTCKGPNIFKCGSGECITMDKVCNGLKDCRDWSDEPLKECRTNECLAKKGGCS
HICNDLKIGYECLCPEGFHLIDQRKCEDINECLNPDTCSQSCVNLEGSYKCECKEGYQID
PVTKTCKAIGTIAYLFFTNRHEVRKMTLDRSEYTSLIPKLKNAVALDMEVSNNKIYWSDS
SQKKIFSTPIDTAHNHSHHTTVIDSGIRFPDGLAVDWIHGNIYWTDSGLGSISVANSEGS
KRKMLIKELGAKPRAIVVDPVRGFMYWTDWGISAKIAKSGLNGVDNFPLVTEGIQWPNGI
TLDLVNQRLYWVDSKYHSVFSIGVDGENRKTILMNEEKLAHPFAITVFEDKVFWTDVINE
AIFSANRLTGSDITKVAQDLFSPEDLALFHSVRQPKGVNWCERSGMTNGGCQYLCLPAPQ
ITLHSAKYTCACPDGMYLARDMRSCTTDPVVPSTRAPVPNISTPVPDIPAPVNVTEQPSI
TRITPKIPRLINESAPVTPEHTTPEMVTLSQKAQNGIAAEIDGAKQRGPPALSIVLPLVL
ICLVSFGAYLVWKNWRLKNTNSINFDNPVYQKTTEDEIHICRSQEGYTYPSRQMVSLEDD
AA
Protein Alignment to Mouse
tr|Q6GTJ9|Q6GTJ9_MOUSE Low density lipoprotein receptor OS=Mus musculus
            GN=Ldlr PE=2 SV=1
        Length = 862

 Score = 3048 (1078.0 bits), Expect = 1.4e-318, P = 1.4e-318
 Identities = 549/850 (64%), Positives = 641/850 (75%)

Query:     1 AAVSLCGRNEFQCGNRDCIPYKWICDGKAECQDGSDESLDTCKSVTCDPGQFSCGGRVNR 60
             AA   C RNEFQC +  CI  KW+CDG  EC DGSDES +TC SVTC   QFSCGGRV+R
Sbjct:    22 AAEDSCSRNEFQCRDGKCIASKWVCDGSPECPDGSDESPETCMSVTCQSNQFSCGGRVSR 81

Query:    61 CINMSWRCDSQTDCENGSDEENCPPKTCADNEFQCKNGNCITLDFVCDEDRDCEDGSDEE 120
             CI  SWRCD Q DCEN SDE+ CPPKTC+ ++F+C++G CI+  FVCD DRDC DGSDE 
Sbjct:    82 CIPDSWRCDGQVDCENDSDEQGCPPKTCSQDDFRCQDGKCISPQFVCDGDRDCLDGSDEA 141

Query:   121 HCSPPTCNPEMFHCNSSECIPKLWACDNDADCKDGSDESPVLC------GKQVTNPCSPL 174
             HC   TC P  F CNSS CIP LWACD D DC DGSDE P  C       K V++PCS L
Sbjct:   142 HCQATTCGPAHFRCNSSICIPSLWACDGDVDCVDGSDEWPQNCQGRDTASKGVSSPCSSL 201

Query:   175 EFHCGSGECIHQSWKCDGSFDCKDRSDEANCAKVTCRPDQFECNDGTCIHGSLQCNKEND 234
             EFHCGS ECIH+SW CDG  DCKD+SDE +CA  TCRPD+F+C DG+CIHGS QC++E+D
Sbjct:   202 EFHCGSSECIHRSWVCDGEADCKDKSDEEHCAVATCRPDEFQCADGSCIHGSRQCDREHD 261

Query:   235 CKDMSDEVGCINVTTCKGPNIFKCGSGECITMDKVCNGLKDCRDWSDEPLKECRTNECLA 294
             CKDMSDE+GC+NVT C GPN FKC SGECI++DKVC+  +DC+DWSDEP+KEC+TNECL 
Sbjct:   262 CKDMSDELGCVNVTQCDGPNKFKCHSGECISLDKVCDSARDCQDWSDEPIKECKTNECLD 321

Query:   295 KKGGCSHICNDLKIGYECLCPEGFHLIDQRKCEDINECLNPDTCSQSCVNLEGSYKCECK 354
               GGCSHIC DLKIG ECLCP GF L+D  +CEDI+EC  PDTCSQ CVNLEGSYKCEC+
Sbjct:   322 NNGGCSHICKDLKIGSECLCPSGFRLVDLHRCEDIDECQEPDTCSQLCVNLEGSYKCECQ 381

Query:   355 EGYQIDPVTKTCKAIGTIAYLFFTNRHEVRKMTLDRSEYTSLIPKLKNAVALDMEVSNNK 414
              G+ +DP T+ CKA+G+I YL FTNRHEVRKMTLDRSEYTSL+P LKN VALD EV+NN+
Sbjct:   382 AGFHMDPHTRVCKAVGSIGYLLFTNRHEVRKMTLDRSEYTSLLPNLKNVVALDTEVTNNR 441

Query:   415 IYWSDSSQKKIFSTPIDTAHNHSHHTTVIDSGIRFPDGLAVDWIHGNIYWTDSGLGSISV 474
             IYWSD SQKKI+S  +D A N S+ T +I   +  PDGLAVDWIH NIYWTDS  GS+SV
Sbjct:   442 IYWSDLSQKKIYSALMDQAPNLSYDT-IISEDLHAPDGLAVDWIHRNIYWTDSVPGSVSV 500

Query:   475 ANSEGSKRKMLIKELGAKPRAIVVDPVRGFMYWTDWGISAKIAKSGLNGVDNFPLVTEGI 534
             A+++G KR+ L +E G++PRAIVVDPV GFMYWTDWG  AKI K GLNGVD   LVTE I
Sbjct:   501 ADTKGVKRRTLFQEAGSRPRAIVVDPVHGFMYWTDWGTPAKIKKGGLNGVDIHSLVTENI 560

Query:   535 QWPNGITLDLVNQRLYWVDSKYHSVFSIGVDGENRKTILMNEEKLAHPFAITVFEDKVFW 594
             QWPNGITLDL + RLYWVDSK HS+ SI V+G NRKTIL +E +LAHPF++ ++EDKV+W
Sbjct:   561 QWPNGITLDLSSGRLYWVDSKLHSISSIDVNGGNRKTILEDENRLAHPFSLAIYEDKVYW 620

Query:   595 TDVINEAIFSANRLTGSDITKVAQDLFSPEDLALFHSVRQPKGVNWCERSGMT-NGGCQY 653
             TDVINEAIFSANRLTGSD+  VA++L SPED+ LFH V QP+GVNWCE + +  NGGCQY
Sbjct:   621 TDVINEAIFSANRLTGSDVNLVAENLLSPEDIVLFHKVTQPRGVNWCETTALLPNGGCQY 680

Query:   654 LCLPAPQITLHSAKYTCACPDGMYLARDMRSCTTDPVVPSTRAPVPNISTPVPDIPAPVN 713
             LCLPAPQI  HS K+TCACPDGM LA+DMRSC T+     T       S   P + A   
Sbjct:   681 LCLPAPQIGPHSPKFTCACPDGMLLAKDMRSCLTEV---DTVLTTQGTSAVRPVVTASAT 737

Query:   714 VTEQPSITRITPKIPRLINESAPV-TPEHTTPEMVTLSQKAQNGIAAEIDGAKQRGPPAL 772
                + S     P  PR      PV TP  +T   VT+S + Q  +A   +  +  G   L
Sbjct:   738 RPPKHSEDLSAPSTPR-----QPVDTPGLSTVASVTVSHQVQGDMAGRGNEEQPHGMRFL 792

Query:   773 SIVLPLVLICLVSFGAYLVWKNWRLKNTNSINFDNPVYQKTTEDEIHICRSQEGYTYPSR 832
             SI  P+ L+ L+  GA L+W+NWRLKN NSINFDNPVYQKTTEDE+HICRSQ+GYTYPSR
Sbjct:   793 SIFFPIALVALLVLGAVLLWRNWRLKNINSINFDNPVYQKTTEDELHICRSQDGYTYPSR 852

Query:   833 QMVSLEDDAA 842
             QMVSLEDD A
Sbjct:   853 QMVSLEDDVA 862

 Score = 276 (102.2 bits), Expect = 5.6e-21, P = 5.6e-21
 Identities = 73/201 (36%), Positives = 97/201 (48%)

Query:   164 GKQVTNPCSPLEFHCGSGECIHQSWKCDGSFDCKDRSDEA--NCAKVTCRPDQFECND-- 219
             G    + CS  EF C  G+CI   W CDGS +C D SDE+   C  VTC+ +QF C    
Sbjct:    20 GVAAEDSCSRNEFQCRDGKCIASKWVCDGSPECPDGSDESPETCMSVTCQSNQFSCGGRV 79

Query:   220 GTCIHGSLQCNKENDCKDMSDEVGCINVTTCKGPNIFKCGSGECITMDKVCNGLKDCRDW 279
               CI  S +C+ + DC++ SDE GC    TC   + F+C  G+CI+   VC+G +DC D 
Sbjct:    80 SRCIPDSWRCDGQVDCENDSDEQGC-PPKTCSQDD-FRCQDGKCISPQFVCDGDRDCLDG 137

Query:   280 SDEPLKECRTNECLAKKGGCSHI-CND-LKIGYECLCPEGFHLIDQRKCEDINECLNPDT 337
             SDE    C+   C     G +H  CN  + I     C      +D    E    C   DT
Sbjct:   138 SDEA--HCQATTC-----GPAHFRCNSSICIPSLWACDGDVDCVDGSD-EWPQNCQGRDT 189

Query:   338 CSQS----CVNLE---GSYKC 351
              S+     C +LE   GS +C
Sbjct:   190 ASKGVSSPCSSLEFHCGSSEC 210