Gene Information

Gene Information
Gene Name	LDLR
Organism	Homo sapiens (Human)
Gene Length	860
Protein Names	Low-density lipoprotein receptor (LDL receptor)
Target Name	low-density lipoprotein receptor
Target Type	Successful target
Gene Age	645 ( ENSG00000130164 )
Evolutionary Stage	Eumetazoa
AlphaFoldDB	P01130
Gene Card	LDLR
Uniprot ID	P01130
Pfam	PF07645; PF00057; PF00058
In ASD	yes
Allosteric Prediction	yes (1.203075303)
Ortholog in Animals	Alpaca_ LDLR ( ortholog_one2one ) Dog_ LDLR ( ortholog_one2one ) GuineaPig_ LDLR ( ortholog_one2one ) Macaque_ LDLR ( ortholog_one2one ) Mouse_ Ldlr ( ortholog_one2one ) Pig_ LDLR ( ortholog_one2one ) Rat_ Ldlr ( ortholog_one2one ) Rabbit_ LDLR ( ortholog_one2one )
Ohnologs	VLDLR, LRP8
Paralogs	LRP12, LRP2, EGF, LRP1, VLDLR, LRP4, LRP5, LRP1B, NID2, LRP6, LRP3, LRP8, LRP10, NID1
Tissue	NA
Tissue Specificity	NA
Pharmacological Animal Models	NULL(Chimpanzee);NULL(Mouse);NULL(Rat);0.016667(Rabbit)
Gene Ontology (biological process)
Gene Ontology (cellular component)
Gene Ontology (molecular function)
PDB	1AJJ (X-ray 1.70A ) 1D2J (NMR - ) 1F5Y (NMR - ) 1F8Z (NMR - ) 1HJ7 (NMR - ) 1HZ8 (NMR - ) 1I0U (NMR - ) 1IJQ (X-ray 1.50A ) 1LDL (NMR - ) 1LDR (NMR - ) 1N7D (X-ray 3.70A ) 1XFE (NMR - ) 2FCW (X-ray 1.26A ) 2KRI (NMR - ) 2LGP (NMR - ) 2M7P (NMR - ) 2MG9 (NMR - ) 2W2M (X-ray 2.40A ) 2W2N (X-ray 2.30A ) 2W2O (X-ray 2.62A ) 2W2P (X-ray 2.62A ) 2W2Q (X-ray 2.33A ) 3BPS (X-ray 2.41A ) 3GCW (X-ray 2.70A ) 3GCX (X-ray 2.70A ) 3M0C (X-ray 7.01A ) 3P5B (X-ray 3.30A ) 3P5C (X-ray 4.20A ) 3SO6 (X-ray 1.37A ) 4NE9 (X-ray 2.60A ) 5OY9 (X-ray 3.60A ) 5OYL (X-ray 2.25A )
DBSNP	rs5931 rs2228671 rs121908041 rs137853960 rs137853960 rs879254418 rs878854026 rs370860696 rs121908025 rs875989894 rs771019366 rs749038326 rs749038326 rs774467219 rs879254456 rs144172724 rs13306510 rs140807148 rs879254482 rs879254514 rs879254515 rs879254517 rs748944640 rs875989901 rs879254526 rs879254535 rs879254536 rs879254541 rs879254549 rs200727689 rs200727689 rs200727689 rs879254554 rs879254554 rs879254558 rs769318035 rs121908033 rs121908033 rs121908026 rs879254571 rs121908039 rs376459828 rs730882085 rs376459828 rs879254589 rs879254603 rs373822756 rs875989906 rs875989906 rs730882086 rs879254630 rs387906303 rs879254630 rs879254635 rs121908028 rs121908029 rs121908029 rs746091400 rs768563000 rs879254659 rs879254663 rs879254663 rs150673992 rs879254667 rs879254668 rs879254670 rs200990725 rs121908040 rs139043155 rs879254683 rs879254692 rs146651743 rs730882089 rs148698650 rs730882091 rs140241383 rs368657165 rs767618089 rs879254714 rs879254714 rs879254716 rs879254715 rs875989909 rs121908030 rs11547917 rs875989910 rs72658858 rs879254739 rs879254738 rs879254739 rs879254747 rs747507019 rs761954844 rs761954844 rs544453230 rs879254753 rs780563386 rs139361635 rs730882096 rs875989914 rs879254769 rs193922566 rs755449669 rs755449669 rs767767730 rs879254781 rs875989915 rs879254787 rs746982741 rs879254791 rs768430352 rs879254792 rs879254797 rs879254803 rs879254804 rs11669576 rs875989918 rs121908038 rs146200173 rs879254831 rs879254834 rs552422789 rs121908043 rs137943601 rs748554592 rs879254845 rs773658037 rs570942190 rs879254849 rs28942078 rs28942079 rs730882100 rs121908036 rs745343524 rs5933 rs879254862 rs879254863 rs879254867 rs879254874 rs879254879 rs5932 rs879254891 rs144614838 rs879254900 rs139624145 rs879254905 rs879254906 rs373646964 rs28942080 rs730882106 rs28942081 rs28941776 rs397509365 rs758194385 rs28942082 rs746959386 rs185098634 rs777188764 rs879255000 rs138947766 rs875989929 rs875989929 rs879255012 rs137929307 rs373371572 rs879255025 rs753707206 rs879255034 rs746118995 rs794728584 rs879255081 rs28942083 rs775092314 rs879255119 rs28942084 rs201573863 rs759858813 rs869320652 rs45508991 rs767546791 rs761123215 rs750518671 rs879255195 rs879255208 rs5928 rs374045590 rs879255217 rs137853964 rs28942085 rs121908037
Subcellular location [CC]	Cell membrane {ECO:0000269\|PubMed:17461796, ECO:0000269\|PubMed:19520913}; Single-pass type I membrane protein {ECO:0000250\|UniProtKB:P01131}. Membrane, clathrin-coated pit {ECO:0000303\|PubMed:6091915}. Golgi apparatus {ECO:0000269\|PubMed:17461796}. Early endosome {ECO:0000269\|PubMed:17461796}. Late endosome {ECO:0000269\|PubMed:17461796}. Lysosome {ECO:0000269\|PubMed:17461796}. Note=Rapidly endocytosed upon ligand binding. {ECO:0000269\|PubMed:3104336}.
Mouse PG classification	NA
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