ENSG00000123384


Homo sapiens

Features
Gene ID: ENSG00000123384
  
Biological name :LRP1
  
Synonyms : LDL receptor related protein 1 / LRP1 / Q07954
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q13.3
Gene start: 57128493
Gene end: 57213351
  
Corresponding Affymetrix probe sets: 1555353_at (Human Genome U133 Plus 2.0 Array)   1569042_at (Human Genome U133 Plus 2.0 Array)   200784_s_at (Human Genome U133 Plus 2.0 Array)   200785_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000451737
Ensembl peptide - ENSP00000451449
Ensembl peptide - ENSP00000451622
Ensembl peptide - ENSP00000243077
Ensembl peptide - ENSP00000341264
Ensembl peptide - ENSP00000451012
NCBI entrez gene - 4035     See in Manteia.
OMIM - 107770
RefSeq - XM_017019303
RefSeq - NM_002332
RefSeq Peptide - NP_002323
swissprot - H0YJ88
swissprot - Q07954
swissprot - Q6PJ72
swissprot - Q7Z7K9
swissprot - H0YJI8
Ensembl - ENSG00000123384
  
Related genetic diseases (OMIM): 604093 - ?Keratosis pilaris atrophicans, 604093
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 lrp1aaENSDARG00000097827Danio rerio
 lrp1abENSDARG00000029146Danio rerio
 Lrp1ENSMUSG00000040249Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
LRP1B / Q9NZR2 / LDL receptor related protein 1BENSG0000016870261
LRP2 / P98164 / LDL receptor related protein 2ENSG0000008147936
LRP4 / O75096 / LDL receptor related protein 4ENSG0000013456915
LRP5 / O75197 / LDL receptor related protein 5ENSG0000016233712
LRP6 / O75581 / LDL receptor related protein 6ENSG0000007001812
LRP8 / Q14114 / LDL receptor related protein 8ENSG000001571937
LDLR / P01130 / low density lipoprotein receptorENSG000001301647
VLDLR / P98155 / very low density lipoprotein receptorENSG000001478527


Protein motifs (from Interpro)
Interpro ID Name
 IPR000033  LDLR class B repeat
 IPR000152  EGF-type aspartate/asparagine hydroxylation site
 IPR000742  EGF-like domain
 IPR001881  EGF-like calcium-binding domain
 IPR002172  Low-density lipoprotein (LDL) receptor class A repeat
 IPR009030  Growth factor receptor cysteine-rich domain superfamily
 IPR011042  Six-bladed beta-propeller, TolB-like
 IPR013032  EGF-like, conserved site
 IPR018097  EGF-like calcium-binding, conserved site
 IPR023415  Low-density lipoprotein (LDL) receptor class A, conserved site
 IPR026823  Complement Clr-like EGF domain
 IPR032485  Domain of unknown function DUF5050
 IPR036055  LDL receptor-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001523 retinoid metabolic process TAS
 biological_processGO:0002265 astrocyte activation involved in immune response ISS
 biological_processGO:0006629 lipid metabolic process TAS
 biological_processGO:0006897 endocytosis IEA
 biological_processGO:0006898 receptor-mediated endocytosis ISS
 biological_processGO:0006909 phagocytosis NAS
 biological_processGO:0007205 protein kinase C-activating G-protein coupled receptor signaling pathway IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007568 aging IEA
 biological_processGO:0008283 cell proliferation IEA
 biological_processGO:0010715 regulation of extracellular matrix disassembly TAS
 biological_processGO:0010875 positive regulation of cholesterol efflux ISS
 biological_processGO:0010942 positive regulation of cell death IGI
 biological_processGO:0010977 negative regulation of neuron projection development IEA
 biological_processGO:0014912 negative regulation of smooth muscle cell migration ISS
 biological_processGO:0021987 cerebral cortex development IEA
 biological_processGO:0030178 negative regulation of Wnt signaling pathway ISS
 biological_processGO:0031623 receptor internalization TAS
 biological_processGO:0032092 positive regulation of protein binding IGI
 biological_processGO:0032370 positive regulation of lipid transport ISS
 biological_processGO:0032374 regulation of cholesterol transport ISS
 biological_processGO:0032429 regulation of phospholipase A2 activity ISS
 biological_processGO:0032956 regulation of actin cytoskeleton organization ISS
 biological_processGO:0035909 aorta morphogenesis ISS
 biological_processGO:0042157 lipoprotein metabolic process IEA
 biological_processGO:0042953 lipoprotein transport NAS
 biological_processGO:0043277 apoptotic cell clearance ISS
 biological_processGO:0043524 negative regulation of neuron apoptotic process IEA
 biological_processGO:0045056 transcytosis TAS
 biological_processGO:0045732 positive regulation of protein catabolic process ISS
 biological_processGO:0045807 positive regulation of endocytosis IGI
 biological_processGO:0051222 positive regulation of protein transport IEA
 biological_processGO:0051246 regulation of protein metabolic process ISS
 biological_processGO:0097242 amyloid-beta clearance TAS
 biological_processGO:1900223 positive regulation of amyloid-beta clearance TAS
 biological_processGO:1903078 positive regulation of protein localization to plasma membrane IGI
 biological_processGO:1904646 cellular response to amyloid-beta ISS
 biological_processGO:1905167 positive regulation of lysosomal protein catabolic process IMP
 biological_processGO:2000587 negative regulation of platelet-derived growth factor receptor-beta signaling pathway ISS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005765 lysosomal membrane HDA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005769 early endosome IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane ISS
 cellular_componentGO:0005905 clathrin-coated pit IEA
 cellular_componentGO:0005925 focal adhesion HDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane IDA
 cellular_componentGO:0030136 clathrin-coated vesicle IEA
 cellular_componentGO:0030425 dendrite IEA
 cellular_componentGO:0030666 endocytic vesicle membrane TAS
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0043235 receptor complex IDA
 cellular_componentGO:0098797 plasma membrane protein complex TAS
 molecular_functionGO:0002020 protease binding IEA
 molecular_functionGO:0003723 RNA binding HDA
 molecular_functionGO:0005041 low-density lipoprotein particle receptor activity TAS
 molecular_functionGO:0005044 scavenger receptor activity TAS
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0016964 alpha-2 macroglobulin receptor activity IMP
 molecular_functionGO:0030226 apolipoprotein receptor activity TAS
 molecular_functionGO:0032050 clathrin heavy chain binding IPI
 molecular_functionGO:0034185 apolipoprotein binding IDA
 molecular_functionGO:0042954 lipoprotein transporter activity NAS
 molecular_functionGO:0043395 heparan sulfate proteoglycan binding TAS
 molecular_functionGO:0044877 protein-containing complex binding IDA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0070325 lipoprotein particle receptor binding IC


Pathways (from Reactome)
Pathway description
Scavenging of heme from plasma
Retinoid metabolism and transport


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000130203 APOE / P02649 / apolipoprotein E  / reaction
 ENSG00000110169 HPX / P02790 / hemopexin  / complex / reaction






 

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