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P01130 Proteins EGF-like domain Repeats
Uniprot ID:P01130
Protein name: Low-density lipoprotein receptor
Gene : LDLR
Protein Family:LDLR family
Squence Length : 860
Sequnce
>P01130 861 MGPWGWKLRWTVALLLAAAGTAVGDRCERNEFQCQDGKCISYKWVCDGSAECQDGSDESQETCLSVTCKSGDFSCGGRVNRCIPQFWRCDGQVDCDNGSDEQGCPPKTCSQDEFRCHDGKCISRQFVCDSDRDCLDGSDEASCPVLTCGPASFQCNSSTCIPQLWACDNDPDCEDGSDEWPQRCRGLYVFQGDSSPCSAFEFHCLSGECIHSSWRCDGGPDCKDKSDEENCAVATCRPDEFQCSDGNCIHGSRQCDREYDCKDMSDEVGCVNVTLCEGPNKFKCHSGECITLDKVCNMARDCRDWSDEPIKECGTNECLDNNGGCSHVCNDLKIGYECLCPDGFQLVAQRRCEDIDECQDPDTCSQLCVNLEGGYKCQCEEGFQLDPHTKACKAVGSIAYLFFTNRHEVRKMTLDRSEYTSLIPNLRNVVALDTEVASNRIYWSDLSQRMICSTQLDRAHGVSSYDTVISRDIQAPDGLAVDWIHSNIYWTDSVLGTVSVADTKGVKRKTLFRENGSKPRAIVVDPVHGFMYWTDWGTPAKIKKGGLNGVDIYSLVTENIQWPNGITLDLLSGRLYWVDSKLHSISSIDVNGGNRKTILEDEKRLAHPFSLAVFEDKVFWTDIINEAIFSANRLTGSDVNLLAENLLSPEDMVLFHNLTQPRGVNWCERTTLSNGGCQYLCLPAPQINPHSPKFTCACPDGMLLARDMRSCLTEAEAAVATQETSTVRLKVSSTAVRTQHTTTRPVPDTSRLPGATPGLTTVEIVTMSHQALGDVAGRGNEKKPSSVRALSIVLPIVLLVFLCLGVFLLWKNWRLKNINSINFDNPVYQKTTEDEVHICHNQDGYSYPSRQMVSLEDDVA
Domains
DOMAIN 25 65 LDL-receptor class A 1 DOMAIN 66 106 LDL-receptor class A 2 DOMAIN 107 145 LDL-receptor class A 3 DOMAIN 146 186 LDL-receptor class A 4 DOMAIN 195 233 LDL-receptor class A 5 DOMAIN 234 272 LDL-receptor class A 6 DOMAIN 274 313 LDL-receptor class A 7 DOMAIN 314 353 EGF-like 1 DOMAIN 354 393 EGF-like 2 calcium-binding DOMAIN 663 712 EGF-like 3
EGF-like sequence regions
314 - 353 NECLDNNGGCSHVCNDLKIGYECLCPDGFQLVAQRRCEDI 354 - 393 DECQDPDTCSQLCVNLEGGYKCQCEEGFQLDPHTKACKAV 663 - 712 NWCERTTLSNGGCQYLCLPAPQINPHSPKFTCACPDGMLLARDMRSCLTE
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.; (Microbial infection) Acts as a receptor for hepatitis C virus in hepatocytes, but not through a direct interaction with viral proteins.; (Microbial infection) Acts as a receptor for Vesicular stomatitis virus.; (Microbial infection) In case of HIV-1 infection, may function as a receptor for extracellular Tat in neurons, mediating its internalization in uninfected cells"
Motifs
MOTIF 823 828 NPXY motif
Mutation
811 811 K->R: No change when associated with R-816 and R-830 when associated with R-816 R-830 and A-839 816 816 K->R: No change when associated with R-830 when associated with R-811 and R-830 when associated with R-830 and A-839 when associated with R-811 R-830 and A-839 821 821 I->A: 3-fold decreased affinity for LDLRAP1 821 821 I->R: 10-fold decreased affinity for LDLRAP1 828 828 Y->A: Abolishes interaction with ARRB2 829 829 Q->A: Decreased affinity for LDLRAP1 830 830 K->R: No change when associated with R-816 when associated with R-811 and R-816 when associated with A-839 when associated with R-816 and A-839 when associated with R-811 R-816 and A-839 839 839 C->A: No change when associated with R-830 when associated with R-816 and R-830 when associated with R-811 R-816 and R-830 854 854 S->A: No effect on receptor internalization 854 854 S->D: Enhances interaction with ARRB2 and receptor internalization
Disease
"DISEASE: Familial hypercholesterolemia (FH) [MIM:143890]: A common autosomal dominant disorder characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease The disorder occurs in 2 clinical forms: a mild form that becomes evident in the fourth or fifth decade in individuals carrying heterozygous LDLR mutations; a more severe form that usually manifests in the first two decades of life in individuals with homozygous LDLR mutations 71} Note=The disease is caused by mutations affecting the gene represented in this entry"