Gene Gene information from NCBI Gene database.
Entrez ID 4035
Gene name LDL receptor related protein 1
Gene symbol LRP1
Synonyms (NCBI Gene)
A2MRAPOERAPRCD91DDH3IGFBP-3RIGFBP3RIGFBP3R1KPALRPLRP1ATGFBR5
Chromosome 12
Chromosome location 12q13.3
Summary This gene encodes a member of the low-density lipoprotein receptor family of proteins. The encoded preproprotein is proteolytically processed by furin to generate 515 kDa and 85 kDa subunits that form the mature receptor (PMID: 8546712). This receptor is
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs483353013 A>C,G Not-provided, pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
240
miRTarBase ID miRNA Experiments Reference
MIRT001163 hsa-miR-205-5p qRT-PCRLuciferase reporter assayWestern blot 19665999
MIRT001162 hsa-miR-545-3p qRT-PCRLuciferase reporter assayWestern blot 19665999
MIRT001161 hsa-miR-338-5p qRT-PCRLuciferase reporter assayWestern blot 19665999
MIRT001163 hsa-miR-205-5p Luciferase reporter assay 19665999
MIRT001359 hsa-miR-1-3p pSILAC 18668040
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
SREBF1 Repression 20980003
SREBF2 Repression 16697011;20980003
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
100
GO ID Ontology Definition Evidence Reference
GO:0001523 Process Retinoid metabolic process IEA
GO:0001523 Process Retinoid metabolic process TAS
GO:0001540 Function Amyloid-beta binding IC
GO:0002265 Process Astrocyte activation involved in immune response ISS
GO:0003723 Function RNA binding HDA 22658674
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
107770 6692 ENSG00000123384
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q07954
Protein name Prolow-density lipoprotein receptor-related protein 1 (LRP-1) (Alpha-2-macroglobulin receptor) (A2MR) (Apolipoprotein E receptor) (APOER) (CD antigen CD91) [Cleaved into: Low-density lipoprotein receptor-related protein 1 85 kDa subunit (LRP-85); Low-dens
Protein function Endocytic receptor involved in endocytosis and in phagocytosis of apoptotic cells (PubMed:11907044, PubMed:12713657). Required for early embryonic development (By similarity). Involved in cellular lipid homeostasis. Involved in the plasma cleara
PDB 1CR8 , 1D2L , 1J8E , 2FYJ , 2FYL , 2KNX , 2KNY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00057 Ldl_recept_a 25 64 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 70 108 Low-density lipoprotein receptor domain class A Repeat
PF07645 EGF_CA 150 188 Calcium-binding EGF domain Domain
PF00058 Ldl_recept_b 614 657 Low-density lipoprotein receptor repeat class B Repeat
PF00058 Ldl_recept_b 660 708 Low-density lipoprotein receptor repeat class B Repeat
PF14670 FXa_inhibition 807 842 Domain
PF00057 Ldl_recept_a 852 890 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 893 931 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 934 971 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 974 1011 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 1013 1051 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 1060 1097 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 1102 1140 Low-density lipoprotein receptor domain class A Repeat
PF14670 FXa_inhibition 1185 1221 Domain
PF00058 Ldl_recept_b 1356 1396 Low-density lipoprotein receptor repeat class B Repeat
PF00058 Ldl_recept_b 1399 1443 Low-density lipoprotein receptor repeat class B Repeat
PF00058 Ldl_recept_b 1627 1667 Low-density lipoprotein receptor repeat class B Repeat
PF00058 Ldl_recept_b 1977 2017 Low-density lipoprotein receptor repeat class B Repeat
PF00058 Ldl_recept_b 2020 2061 Low-density lipoprotein receptor repeat class B Repeat
PF00058 Ldl_recept_b 2344 2386 Low-density lipoprotein receptor repeat class B Repeat
PF00058 Ldl_recept_b 2389 2428 Low-density lipoprotein receptor repeat class B Repeat
PF00057 Ldl_recept_a 2522 2561 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 2564 2600 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 2603 2639 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 2657 2688 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 2694 2730 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 2732 2769 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 2772 2812 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 2816 2853 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 2856 2897 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 2902 2939 Low-density lipoprotein receptor domain class A Repeat
PF12662 cEGF 2962 2985 Complement Clr-like EGF-like Domain
PF16472 DUF5050 3022 3258 Domain of unknown function (DUF5050) Domain
PF14670 FXa_inhibition 3294 3330 Domain
PF00057 Ldl_recept_a 3332 3369 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 3372 3408 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 3411 3448 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 3451 3489 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 3492 3531 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 3534 3570 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 3573 3609 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 3611 3647 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 3652 3690 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 3739 3776 Low-density lipoprotein receptor domain class A Repeat
PF07645 EGF_CA 3824 3861 Calcium-binding EGF domain Domain
PF00058 Ldl_recept_b 3970 4010 Low-density lipoprotein receptor repeat class B Repeat
PF00058 Ldl_recept_b 4013 4054 Low-density lipoprotein receptor repeat class B Repeat
PF00058 Ldl_recept_b 4057 4099 Low-density lipoprotein receptor repeat class B Repeat
Tissue specificity TISSUE SPECIFICITY: Most abundant in liver, brain and lung.
Sequence
MLTPPLLLLLPLLSALVAAAIDAPKTCSPKQFACRDQITCISKGWRCDGERDCPDGSDEA
PEIC
PQSKAQRCQPNEHNCLGTELCVPMSRLCNGVQDCMDGSDEGPHCRELQGNCSRLGC
QHHCVPTLDGPTCYCNSSFQLQADGKTCKDFDECSVYGTCSQLCTNTDGSFICGCVEGYL
LQPDNRSC
KAKNEPVDRPPVLLIANSQNILATYLSGAQVSTITPTSTRQTTAMDFSYANE
TVCWVHVGDSAAQTQLKCARMPGLKGFVDEHTINISLSLHHVEQMAIDWLTGNFYFVDDI
DDRIFVCNRNGDTCVTLLDLELYNPKGIALDPAMGKVFFTDYGQIPKVERCDMDGQNRTK
LVDSKIVFPHGITLDLVSRLVYWADAYLDYIEVVDYEGKGRQTIIQGILIEHLYGLTVFE
NYLYATNSDNANAQQKTSVIRVNRFNSTEYQVVTRVDKGGALHIYHQRRQPRVRSHACEN
DQYGKPGGCSDICLLANSHKARTCRCRSGFSLGSDGKSCKKPEHELFLVYGKGRPGIIRG
MDMGAKVPDEHMIPIENLMNPRALDFHAETGFIYFADTTSYLIGRQKIDGTERETILKDG
IHNVEGVAVDWMGDNLYWTDDGPKKTISVARLEKAAQTRKTLIEGKMTHPRAIVVDPLNG
WMYWTDWEEDPKDSRRGRLERAWMDGSHRDIFVTSKTVLWPNGLSLDI
PAGRLYWVDAFY
DRIETILLNGTDRKIVYEGPELNHAFGLCHHGNYLFWTEYRSGSVYRLERGVGGAPPTVT
LLRSERPPIFEIRMYDAQQQQVGTNKCRVNNGGCSSLCLATPGSRQCACAEDQVLDADGV
TC
LANPSYVPPPQCQPGEFACANSRCIQERWKCDGDNDCLDNSDEAPALCHQHTCPSDRF
KCENNRCIPNRWLCDGDNDCGNSEDESNATC
SARTCPPNQFSCASGRCIPISWTCDLDDD
CGDRSDESASC
AYPTCFPLTQFTCNNGRCININWRCDNDNDCGDNSDEAGCSHSCSSTQF
KCNSGRCIPEHWTCDGDNDCGDYSDETHANC
TNQATRPPGGCHTDEFQCRLDGLCIPLRW
RCDGDTDCMDSSDEKSC
EGVTHVCDPSVKFGCKDSARCISKAWVCDGDNDCEDNSDEENC
ESLACRPPSHPCANNTSVCLPPDKLCDGNDDCGDGSDEGELCDQCSLNNGGCSHNCSVAP
GEGIVCSCPLGMELGPDNHTC
QIQSYCAKHLKCSQKCDQNKFSVKCSCYEGWVLEPDGES
CRSLDPFKPFIIFSNRHEIRRIDLHKGDYSVLVPGLRNTIALDFHLSQSALYWTDVVEDK
IYRGKLLDNGALTSFEVVIQYGLATPEGLAVDWIAGNIYWVESNLDQIEVAKLDGTLRTT
LLAGDIEHPRAIALDP
RDGILFWTDWDASLPRIEAASMSGAGRRTVHRETGSGGWPNGLT
VDY
LEKRILWIDARSDAIYSARYDGSGHMEVLRGHEFLSHPFAVTLYGGEVYWTDWRTNT
LAKANKWTGHNVTVVQRTNTQPFDLQVYHPSRQPMAPNPCEANGGQGPCSHLCLINYNRT
VSCACPHLMKLHKDNTTCYEFKKFLLYARQMEIRGVDLDAPYYNYIISFTVPDIDNVTVL
DYDAREQRVYWSDVRTQAIKRAFINGTGVETVVSADLPNAHGLAVDWVSRNLFWTSYDTN
KKQINVARLDGSFKNAVVQGLEQPHGLVVHPLRGKLYWTDGDNISMANMDGSNRTLLFSG
QKGPVGLAIDFPESKLYWISSGNHTINRCNLDGSGLEVIDAMRSQLGKATALAIMGDKLW
WADQVSEKMGTCSKADGSGSVVLRNSTTLVMHMKVYDESIQLDHKGTNPCSVNNGDCSQL
CLPTSETTRSCMCTAGYSLRSGQQACEGVGSFLLYSVHEGIRGIPLDPNDKSDALVPVSG
TSLAVGIDFHAENDTIYWVDMGLSTISRAKRDQTWREDVVTNGIGRVEGIAVDWIAGNIY
WTDQGFDVIEVARLNGSFRYVVISQGLDKPRAITVHP
EKGYLFWTEWGQYPRIERSRLDG
TERVVLVNVSISWPNGISVDY
QDGKLYWCDARTDKIERIDLETGENREVVLSSNNMDMFS
VSVFEDFIYWSDRTHANGSIKRGSKDNATDSVPLRTGIGVQLKDIKVFNRDRQKGTNVCA
VANGGCQQLCLYRGRGQRACACAHGMLAEDGASCREYAGYLLYSERTILKSIHLSDERNL
NAPVQPFEDPEHMKNVIALAFDYRAGTSPGTPNRIFFSDIHFGNIQQINDDGSRRITIVE
NVGSVEGLAYHRGWDTLYWTSYTTSTITRHTVDQTRPGAFERETVITMSGDDHPRAFVLD
ECQNLMFWTNWNEQHPSIMRAALSGANVLTLIEKDIRTPNGLAIDHRAEKLYFSDATLDK
IERCEYDGSHRYVILKSEPVHPFGLAVY
GEHIFWTDWVRRAVQRANKHVGSNMKLLRVDI
PQQPMGIIAVANDTNSCELSPCRINNGGCQDLCLLTHQGHVNCSCRGGRILQDDLTCRAV
NSSCRAQDEFECANGECINFSLTCDGVPHCKDKSDEKPSYCNSRRCKKTFRQCSNGRCVS
NMLWCNGADDCGDGSDEIPC
NKTACGVGEFRCRDGTCIGNSSRCNQFVDCEDASDEMNCS
ATDCSSYFRLGVKGVLFQPCERTSLCYAPSWVCDGANDCGDYSDERDCPGVKRPRCPLNY
FACPSGRCIPMSWTCDKEDDCEHGEDETHC
NKFCSEAQFECQNHRCISKQWLCDGSDDCG
DGSDEAAHC
EGKTCGPSSFSCPGTHVCVPERWLCDGDKDCADGADESIAAGCLYNSTCDD
REFMCQNRQCIPKHFVCDHDRDCADGSDESPEC
EYPTCGPSEFRCANGRCLSSRQWECDG
ENDCHDQSDEAPKNPHC
TSQEHKCNASSQFLCSSGRCVAEALLCNGQDDCGDSSDERGCH
INECLSRKLSGCSQDCEDLKIGFKCRCRPGFRLKDDGRTCADVDECSTTFPCSQRCINTH
GSYKCLCVEGYAPRGGDPHSCKAVTDEEPFLIFANRYYLRKLNLDGSNYTLLKQGLNNAV
ALDFDYREQMIYWTDVTTQGSMIRRMHLNGSNVQVLHRTGLSNPDGLAVDWVGGNLYWCD
KGRDTIEVSKLNGAYRTVLVSSGLREPRALVVDVQNGYLYWTDWGDHSLIGRIGMDGSSR
SVIVDTKITWPNGLTLDYVTERIYWADAREDYIEFASLDGSNRHVVLSQDIPHIFALTLF
EDYVYWTDWETKSINRAH
KTTGTNKTLLISTLHRPMDLHVFHALRQPDVPNHPCKVNNGG
CSNLCLLSPGGGHKCACPTNFYLGSDGRTC
VSNCTASQFVCKNDKCIPFWWKCDTEDDCG
DHSDEPPDC
PEFKCRPGQFQCSTGICTNPAFICDGDNDCQDNSDEANCDIHVCLPSQFKC
TNTNRCIPGIFRCNGQDNCGDGEDERDC
PEVTCAPNQFQCSITKRCIPRVWVCDRDNDCV
DGSDEPANC
TQMTCGVDEFRCKDSGRCIPARWKCDGEDDCGDGSDEPKEECDERTCEPYQ
FRCKNNRCVPGRWQCDYDNDCGDNSDEESC
TPRPCSESEFSCANGRCIAGRWKCDGDHDC
ADGSDEKDC
TPRCDMDQFQCKSGHCIPLRWRCDADADCMDGSDEEACGTGVRTCPLDEFQ
CNNTLCKPLAWKCDGEDDCGDNSDENPEEC
ARFVCPPNRPFRCKNDRVCLWIGRQCDGTD
NCGDGTDEEDCEPPTAHTTHCKDKKEFLCRNQRCLSSSLRCNMFDDCGDGSDEEDCSIDP
KLTSCATNASICGDEARCVRTEKAAYCACRSGFHTVPGQPGCQDINECLRFGTCSQLCNN
TKGGHLCSCARNFMKTHNTCK
AEGSEYQVLYIADDNEIRSLFPGHPHSAYEQAFQGDESV
RIDAMDVHVKAGRVYWTNWHTGTISYRSLPPAAPPTTSNRHRRQIDRGVTHLNISGLKMP
RGIAIDWVAGNVYWTDSGRDVIEVAQMKGENRKTLISGMIDEPHAIVVDPLRGTMYWSDW
GNHPKIETAAMDGTLRETLVQDNIQWPTGLAVDY
HNERLYWADAKLSVIGSIRLNGTDPI
VAADSKRGLSHPFSIDVFE
DYIYGVTYINNRVFKIHKFGHSPLVNLTGGLSHASDVVLYH
QHKQPEVTNPCDRKKCEWLCLLSPSGPVCTCPNGKRLDNGTCVPVPSPTPPPDAPRPGTC
NLQCFNGGSCFLNARRQPKCRCQPRYTGDKCELDQCWEHCRNGGTCAASPSGMPTCRCPT
GFTGPKCTQQVCAGYCANNSTCTVNQGNQPQCRCLPGFLGDRCQYRQCSGYCENFGTCQM
AADGSRQCRCTAYFEGSRCEVNKCSRCLEGACVVNKQSGDVTCNCTDGRVAPSCLTCVGH
CSNGGSCTMNSKMMPECQCPPHMTGPRCEEHVFSQQQPGHIASILIPLLLLLLLVLVAGV
VFWYKRRVQGAKGFQHQRMTNGAMNVEIGNPTYKMYEGGEPDDVGGLLDADFALDPDKPT
NFTNPVYATLYMGGHGSRHSLASTDEKRELLGRGPEDEIGDPLA
Sequence length 4544
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Efferocytosis
Cholesterol metabolism
Alzheimer disease
Malaria
  Scavenging of heme from plasma
Retinoid metabolism and transport
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
117
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Atrophoderma vermiculatum Pathogenic rs483353013 RCV000119304
Developmental dysplasia of the hip 3 Pathogenic rs762970763, rs767319988, rs2548053933, rs200106514 RCV003493368
RCV003493369
RCV003493370
RCV003493371
Global developmental delay Likely pathogenic rs2136703640 RCV001779398
Keratosis pilaris Pathogenic rs483353013 RCV000258847
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs1800141 RCV005916459
Adrenocortical carcinoma, hereditary Benign rs1800141 RCV005916461
Cervical cancer Benign; Likely benign rs2229281, rs138980324 RCV005903665
RCV005913339
Colon adenocarcinoma Benign rs1800141 RCV005916458
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 24596678, 38067191, 39394110
Adenocarcinoma of Lung Associate 21325077
Alzheimer Disease Associate 10899157, 11461976, 12888553, 12951770, 19664312, 19665999, 21593627, 21676498, 23167255, 24596678, 26856603, 28578378, 34387022, 38067191, 38417436
View all (2 more)
Alzheimer Disease Inhibit 25757756, 33246059
Aneurysm Inhibit 24054777
Aortic Aneurysm Abdominal Associate 22055160, 24423473, 25198969, 37893562
Aortic Aneurysm Abdominal Inhibit 24054777, 26781079
Aortic Dissection Associate 27569546
Arthritis Rheumatoid Associate 26814849
Atherosclerosis Associate 24423473, 24639232, 8182133