LRP1 (LDL receptor related protein 1) - Rat Genome Database
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Gene: LRP1 (LDL receptor related protein 1) Homo sapiens
Analyze
Symbol: LRP1
Name: LDL receptor related protein 1
RGD ID: 1316786
Description: Exhibits alpha-2 macroglobulin receptor activity; apolipoprotein binding activity; and clathrin heavy chain binding activity. Involved in several processes, including amyloid-beta clearance by cellular catabolic process; amyloid-beta clearance by transcytosis; and positive regulation of lysosomal protein catabolic process. Localizes to basolateral plasma membrane; early endosome; and receptor complex. Implicated in Alzheimer's disease; keratosis pilaris atrophicans; myocardial infarction; and sciatic neuropathy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: A2MR; alpha-2-macroglobulin receptor; APOER; apolipoprotein E receptor; APR; CD91; FLJ16451; IGFBP-3R; IGFBP3R; IGFBP3R1; KPA; low density lipoprotein receptor-related protein 1; LRP; LRP-1; LRP1A; MGC88725; prolow-density lipoprotein receptor-related protein 1; TbetaR-V/LRP-1/IGFBP-3 receptor; TGFBR5; type V tgf-beta receptor
Orthologs:
Mus musculus (house mouse) : Lrp1 (low density lipoprotein receptor-related protein 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Lrp1 (LDL receptor related protein 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Lrp1 (LDL receptor related protein 1)
Pan paniscus (bonobo/pygmy chimpanzee) : LRP1 (LDL receptor related protein 1)
Canis lupus familiaris (dog) : LRP1 (LDL receptor related protein 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Lrp1 (LDL receptor related protein 1)
Sus scrofa (pig) : LRP1 (LDL receptor related protein 1)
Chlorocebus sabaeus (African green monkey) : LRP1 (LDL receptor related protein 1)
Heterocephalus glaber (naked mole-rat) : Lrp1 (LDL receptor related protein 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1257,128,483 - 57,213,361 (+)EnsemblGRCh38hg38GRCh38
GRCh381257,128,401 - 57,213,377 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371257,522,282 - 57,607,142 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361255,808,549 - 55,893,409 (+)NCBINCBI36hg18NCBI36
Build 341255,808,548 - 55,893,390NCBI
Celera1257,176,220 - 57,261,424 (+)NCBI
Cytogenetic Map12q13.3NCBI
HuRef1254,625,579 - 54,646,229 (+)NCBIHuRef
HuRef1254,560,642 - 54,624,427 (+)NCBIHuRef
CHM1_11257,489,966 - 57,575,252 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
4-tert-butylphenol  (EXP)
acetamide  (ISO)
aflatoxin B1  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
aspartame  (ISO)
atrazine  (EXP)
BAPTA  (ISO)
benzo[a]pyrene  (EXP,ISO)
bilirubin IXalpha  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
Brodifacoum  (ISO)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
capsaicin  (ISO)
carbon nanotube  (ISO)
cholesterol  (ISO)
ciguatoxin CTX1B  (ISO)
cimetidine  (EXP)
cisplatin  (EXP)
clobetasol  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP,ISO)
dexamethasone  (EXP)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dioxygen  (EXP,ISO)
doxorubicin  (EXP)
emodin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
fipronil  (ISO)
flutamide  (ISO)
folic acid  (ISO)
furan  (ISO)
glutathione  (ISO)
hydrogen peroxide  (EXP)
hypochlorous acid  (ISO)
indometacin  (EXP)
KT 5720  (ISO)
lead diacetate  (ISO)
lead(0)  (ISO)
lead(2+)  (ISO)
lipopolysaccharide  (ISO)
lucanthone  (EXP)
menadione  (EXP)
methamphetamine  (ISO)
miconazole  (ISO)
microcystin-LR  (ISO)
monosodium L-glutamate  (ISO)
morphine  (ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
p-toluidine  (ISO)
paracetamol  (EXP,ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
PhIP  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
propiconazole  (ISO)
resveratrol  (EXP)
SB 203580  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (ISO)
succimer  (ISO)
sulforaphane  (ISO)
sunitinib  (EXP)
Tanshinone I  (EXP)
tert-butyl hydroperoxide  (EXP)
Tesaglitazar  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triprolidine  (EXP)
valproic acid  (EXP,ISO)
very-low-density lipoprotein triglyceride  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
aging  (IEA)
amyloid-beta clearance  (NAS,TAS)
amyloid-beta clearance by cellular catabolic process  (IMP,ISS)
amyloid-beta clearance by transcytosis  (IGI,ISS)
aorta morphogenesis  (ISS)
apoptotic cell clearance  (ISS)
astrocyte activation involved in immune response  (ISS)
cardiac septum development  (ISO)
cell population proliferation  (IEA)
cellular lipid catabolic process  (IEA)
cellular response to amyloid-beta  (ISS)
cerebral cortex development  (IEA)
chemoattraction of axon  (IEA)
cholesterol metabolic process  (ISO)
coronary vasculature development  (ISO)
endocytosis  (IEA)
lipid metabolic process  (TAS)
lipoprotein metabolic process  (IEA)
lipoprotein transport  (NAS)
lysosomal transport  (ISS)
negative regulation of apoptotic process  (ISO)
negative regulation of cell death  (ISO)
negative regulation of cell-substrate adhesion  (ISO)
negative regulation of cytosolic calcium ion concentration  (IEA)
negative regulation of focal adhesion assembly  (IEA)
negative regulation of metallopeptidase activity  (IC)
negative regulation of neuron apoptotic process  (IEA)
negative regulation of neuron projection development  (IEA)
negative regulation of platelet-derived growth factor receptor-beta signaling pathway  (ISS)
negative regulation of smooth muscle cell migration  (ISS)
negative regulation of Wnt signaling pathway  (ISS)
phagocytosis  (IMP,NAS)
positive regulation of amyloid-beta clearance  (ISS,TAS)
positive regulation of axon extension  (ISO)
positive regulation of axon extension involved in regeneration  (IEA)
positive regulation of cell death  (IGI)
positive regulation of chemokine (C-X-C motif) ligand 2 production  (ISO)
positive regulation of cholesterol efflux  (ISS)
positive regulation of cholesterol import  (IEA)
positive regulation of collateral sprouting of injured axon  (IEA)
positive regulation of cytosolic calcium ion concentration  (IEA)
positive regulation of endocytosis  (IGI)
positive regulation of ERK1 and ERK2 cascade  (IEA)
positive regulation of insulin secretion involved in cellular response to glucose stimulus  (IEA)
positive regulation of lipid transport  (ISS)
positive regulation of lysosomal protein catabolic process  (IMP)
positive regulation of neuron projection development  (ISO)
positive regulation of phagocytosis  (IEA)
positive regulation of protein binding  (IGI)
positive regulation of protein localization to plasma membrane  (IGI)
positive regulation of protein transport  (ISO)
positive regulation of Schwann cell migration  (IEA)
positive regulation of transcytosis  (ISS)
positive regulation of vascular associated smooth muscle cell migration  (IEA)
protein kinase C-activating G protein-coupled receptor signaling pathway  (IEA)
receptor internalization  (TAS)
receptor-mediated endocytosis  (IMP,ISS,TAS)
regulation of actin cytoskeleton organization  (ISS)
regulation of cholesterol transport  (ISS)
regulation of extracellular matrix disassembly  (TAS)
regulation of phospholipase A2 activity  (ISS)
retinoid metabolic process  (TAS)
transcytosis  (TAS)
transport across blood-brain barrier  (ISS,NAS)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
1. Espirito Santo SM, etal., Blood. 2004 May 15;103(10):3777-82. Epub 2004 Jan 22.
2. Gaultier A, etal., J Cell Sci. 2009 Apr 15;122(Pt 8):1155-62. doi: 10.1242/jcs.040717. Epub 2009 Mar 19.
3. Gaultier A, etal., J Clin Invest. 2008 Jan;118(1):161-72. doi: 10.1172/JCI32371.
4. Gilardoni MB, etal., J Histochem Cytochem. 2003 Dec;51(12):1575-80.
5. GOA_HUMAN data from the GO Consortium
6. Hu K, etal., J Clin Invest. 2007 Dec;117(12):3821-32.
7. Hu Q, etal., Mol Med Rep. 2018 Jan;17(1):827-834. doi: 10.3892/mmr.2017.7983. Epub 2017 Nov 6.
8. Kang LI, etal., Lab Invest. 2015 Oct;95(10):1117-29. doi: 10.1038/labinvest.2015.94. Epub 2015 Aug 3.
9. Lambert JC, etal., Lancet 1998 Jun 13;351(9118):1787-8.
10. Luo Y, etal., Mech Ageing Dev. 2009 Apr;130(4):248-52. doi: 10.1016/j.mad.2008.12.005. Epub 2008 Dec 27.
11. McCarthy JJ, etal., Hum Genet. 2003 Dec;114(1):87-98. Epub 2003 Oct 14.
12. McCarthy JJ, etal., J Med Genet. 2004 May;41(5):334-41.
13. Moon JH, etal., J Mol Endocrinol. 2012 Oct 10;49(3):165-74. doi: 10.1530/JME-12-0119. Print 2012 Dec.
14. Overton CD, etal., Circ Res. 2007 Mar 16;100(5):670-7. Epub 2007 Feb 15.
15. Pipeline to import KEGG annotations from KEGG into RGD
16. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
17. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
18. RGD automated import pipeline for gene-chemical interactions
19. Sanchez MC, etal., Exp Eye Res. 2006 Dec;83(6):1378-85. Epub 2006 Sep 15.
20. Schulz S, etal., Hum Mutat. 2002 Nov;20(5):404.
21. Wei B, etal., Brain Res. 2016 Jan 15;1631:157-64. doi: 10.1016/j.brainres.2015.11.041. Epub 2015 Dec 2.
22. Yoon C, etal., J Biol Chem. 2013 Sep 13;288(37):26557-68. doi: 10.1074/jbc.M113.478552. Epub 2013 Jul 18.
Additional References at PubMed
PMID:1281473   PMID:1374383   PMID:1377168   PMID:1423505   PMID:1464627   PMID:1502153   PMID:1698775   PMID:1702392   PMID:1718973   PMID:2112085   PMID:2548950   PMID:2597675  
PMID:2779654   PMID:3266596   PMID:7508685   PMID:7510694   PMID:7534747   PMID:7537086   PMID:7543026   PMID:7721852   PMID:7775583   PMID:7961982   PMID:7989348   PMID:8307199  
PMID:8546712   PMID:8626514   PMID:8703036   PMID:8806749   PMID:9045712   PMID:9045716   PMID:9051770   PMID:9252371   PMID:9295345   PMID:9782078   PMID:9804823   PMID:9820815  
PMID:9837937   PMID:10318830   PMID:10471328   PMID:10514495   PMID:10608878   PMID:10632583   PMID:10652313   PMID:10747918   PMID:10772929   PMID:10827173   PMID:10880251   PMID:11006321  
PMID:11076057   PMID:11100124   PMID:11158305   PMID:11240025   PMID:11247302   PMID:11248808   PMID:11279011   PMID:11359936   PMID:11421580   PMID:11436125   PMID:11479307   PMID:11560994  
PMID:11600564   PMID:11705989   PMID:11720768   PMID:11729193   PMID:11823454   PMID:11854294   PMID:11861214   PMID:11867643   PMID:11907044   PMID:11931574   PMID:11992244   PMID:12069755  
PMID:12169628   PMID:12194978   PMID:12212791   PMID:12393177   PMID:12394648   PMID:12412500   PMID:12417024   PMID:12473559   PMID:12477932   PMID:12522143   PMID:12522212   PMID:12531796  
PMID:12555245   PMID:12637503   PMID:12672816   PMID:12713657   PMID:12732394   PMID:12750160   PMID:12789267   PMID:12793904   PMID:12807892   PMID:12821648   PMID:12857755   PMID:12888553  
PMID:12960961   PMID:14585398   PMID:14593097   PMID:14597676   PMID:14645246   PMID:14699139   PMID:14702039   PMID:14739301   PMID:14980518   PMID:14991768   PMID:15001579   PMID:15044004  
PMID:15048651   PMID:15131125   PMID:15135046   PMID:15182176   PMID:15226301   PMID:15231748   PMID:15264223   PMID:15272003   PMID:15288502   PMID:15294142   PMID:15328156   PMID:15591119  
PMID:15634227   PMID:15647823   PMID:15705569   PMID:15705932   PMID:15749709   PMID:15769472   PMID:15772078   PMID:15800028   PMID:15863833   PMID:15925094   PMID:15944146   PMID:16040006  
PMID:16088940   PMID:16101684   PMID:16102056   PMID:16167883   PMID:16175004   PMID:16328515   PMID:16335952   PMID:16362633   PMID:16402284   PMID:16407289   PMID:16459332   PMID:16567404  
PMID:16606588   PMID:16697011   PMID:16697675   PMID:16751776   PMID:16807059   PMID:16821592   PMID:16839343   PMID:16929535   PMID:16956829   PMID:17012232   PMID:17124247   PMID:17155964  
PMID:17203175   PMID:17258834   PMID:17326667   PMID:17360663   PMID:17452356   PMID:17570828   PMID:17620659   PMID:17694066   PMID:17709443   PMID:17711877   PMID:17889283   PMID:17897319  
PMID:17908054   PMID:17942912   PMID:17974965   PMID:18156630   PMID:18166789   PMID:18194421   PMID:18231792   PMID:18277139   PMID:18281370   PMID:18288927   PMID:18317248   PMID:18321860  
PMID:18373737   PMID:18381291   PMID:18489712   PMID:18635818   PMID:18648652   PMID:18653767   PMID:18683150   PMID:18685438   PMID:18706476   PMID:18834984   PMID:18940800   PMID:18941243  
PMID:18990694   PMID:19008962   PMID:19036715   PMID:19036954   PMID:19098903   PMID:19105203   PMID:19176371   PMID:19251705   PMID:19336475   PMID:19383717   PMID:19393132   PMID:19420105  
PMID:19439404   PMID:19446849   PMID:19615732   PMID:19631509   PMID:19664312   PMID:19665999   PMID:19684401   PMID:19795391   PMID:19815552   PMID:19823686   PMID:19885591   PMID:19913121  
PMID:19948975   PMID:19968964   PMID:20005821   PMID:20030366   PMID:20048078   PMID:20101615   PMID:20167577   PMID:20199584   PMID:20205790   PMID:20220145   PMID:20381197   PMID:20468060  
PMID:20472562   PMID:20535486   PMID:20558745   PMID:20568118   PMID:20610799   PMID:20628086   PMID:20637261   PMID:20644732   PMID:20685197   PMID:20686565   PMID:20716178   PMID:20826454  
PMID:20869432   PMID:20980003   PMID:21054788   PMID:21078624   PMID:21165580   PMID:21212259   PMID:21289173   PMID:21325077   PMID:21383009   PMID:21391865   PMID:21408136   PMID:21423176  
PMID:21454812   PMID:21471105   PMID:21496869   PMID:21518850   PMID:21650223   PMID:21666692   PMID:21671167   PMID:21676498   PMID:21676865   PMID:21946350   PMID:21951552   PMID:21966368  
PMID:21968187   PMID:22027013   PMID:22034896   PMID:22055160   PMID:22072275   PMID:22081071   PMID:22199357   PMID:22238606   PMID:22268729   PMID:22293988   PMID:22298529   PMID:22347399  
PMID:22383525   PMID:22392894   PMID:22412921   PMID:22427881   PMID:22454511   PMID:22467855   PMID:22534531   PMID:22658674   PMID:22683712   PMID:22711991   PMID:22817990   PMID:22819221  
PMID:22822085   PMID:22873206   PMID:22914594   PMID:22967844   PMID:23064555   PMID:23096408   PMID:23152628   PMID:23166318   PMID:23167255   PMID:23186781   PMID:23212659   PMID:23228658  
PMID:23241409   PMID:23264627   PMID:23267846   PMID:23284291   PMID:23357958   PMID:23382219   PMID:23386606   PMID:23386614   PMID:23404896   PMID:23425335   PMID:23484911   PMID:23498137  
PMID:23517243   PMID:23640058   PMID:23675525   PMID:23755898   PMID:23793025   PMID:23812296   PMID:23898049   PMID:23922991   PMID:23926111   PMID:23936774   PMID:23959870   PMID:24030729  
PMID:24054777   PMID:24072693   PMID:24097068   PMID:24126057   PMID:24129569   PMID:24139096   PMID:24198379   PMID:24284412   PMID:24305823   PMID:24423473   PMID:24474687   PMID:24484584  
PMID:24504736   PMID:24525843   PMID:24529141   PMID:24591168   PMID:24596678   PMID:24658140   PMID:24661974   PMID:24666322   PMID:24796846   PMID:24877199   PMID:24947444   PMID:25015123  
PMID:25056061   PMID:25131918   PMID:25238221   PMID:25300797   PMID:25393517   PMID:25402006   PMID:25514242   PMID:25609649   PMID:25730041   PMID:25800007   PMID:25903134   PMID:25918169  
PMID:25936756   PMID:25937287   PMID:26005850   PMID:26031789   PMID:26142438   PMID:26186194   PMID:26188720   PMID:26206901   PMID:26285183   PMID:26496610   PMID:26590417   PMID:26634655  
PMID:26738504   PMID:26781079   PMID:26820600   PMID:26837706   PMID:27084377   PMID:27322543   PMID:27400748   PMID:27402839   PMID:27463962   PMID:27476612   PMID:27503326   PMID:27563375  
PMID:27569546   PMID:27610455   PMID:27614059   PMID:27794518   PMID:27931798   PMID:27956551   PMID:28012205   PMID:28065597   PMID:28306378   PMID:28380382   PMID:28431990   PMID:28514442  
PMID:28516428   PMID:28557183   PMID:28580688   PMID:28584820   PMID:28611215   PMID:28612181   PMID:28675297   PMID:28724630   PMID:28799085   PMID:28814781   PMID:28833753   PMID:28948494  
PMID:29116364   PMID:29138479   PMID:29146996   PMID:29180619   PMID:29262309   PMID:29274414   PMID:29348672   PMID:29386344   PMID:29507755   PMID:29547901   PMID:29550924   PMID:29644529  
PMID:29749311   PMID:29853565   PMID:29865095   PMID:29989339   PMID:30033103   PMID:30061663   PMID:30279425   PMID:30280653   PMID:30340601   PMID:30479021   PMID:30486550   PMID:30902418  
PMID:30902789   PMID:30910704   PMID:30944251   PMID:31077676   PMID:31094488   PMID:31108099   PMID:31165486   PMID:31273033   PMID:31409872   PMID:31536960   PMID:31538302   PMID:31753913  
PMID:31771696   PMID:32296178   PMID:32569156  


Genomics

Comparative Map Data
LRP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1257,128,483 - 57,213,361 (+)EnsemblGRCh38hg38GRCh38
GRCh381257,128,401 - 57,213,377 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371257,522,282 - 57,607,142 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361255,808,549 - 55,893,409 (+)NCBINCBI36hg18NCBI36
Build 341255,808,548 - 55,893,390NCBI
Celera1257,176,220 - 57,261,424 (+)NCBI
Cytogenetic Map12q13.3NCBI
HuRef1254,625,579 - 54,646,229 (+)NCBIHuRef
HuRef1254,560,642 - 54,624,427 (+)NCBIHuRef
CHM1_11257,489,966 - 57,575,252 (+)NCBICHM1_1
Lrp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3910127,374,026 - 127,457,158 (-)NCBI
GRCm3810127,538,157 - 127,621,148 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl10127,538,161 - 127,621,148 (-)EnsemblGRCm38mm10GRCm38
MGSCv3710126,975,213 - 127,058,204 (-)NCBIGRCm37mm9NCBIm37
MGSCv3610126,941,137 - 127,024,078 (-)NCBImm8
Celera10129,930,007 - 130,012,542 (-)NCBICelera
Cytogenetic Map10D3NCBI
Lrp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0770,846,313 - 70,927,028 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl770,846,344 - 70,926,903 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0771,018,808 - 71,099,367 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4767,520,575 - 67,601,549 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1767,541,343 - 67,622,669 (-)NCBI
Celera760,519,175 - 60,599,687 (-)NCBICelera
Cytogenetic Map7q22NCBI
Lrp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554584,861,431 - 4,941,146 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554584,861,431 - 4,941,939 (+)NCBIChiLan1.0ChiLan1.0
LRP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11231,966,149 - 32,051,979 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1231,966,149 - 32,051,979 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01231,713,938 - 31,799,287 (-)NCBIMhudiblu_PPA_v0panPan3
LRP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl101,260,719 - 1,352,271 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1101,260,256 - 1,341,705 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Lrp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049366461,326,900 - 1,407,236 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LRP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1522,435,636 - 22,519,276 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2524,186,409 - 24,202,094 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LRP1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl1153,039,364 - 53,125,776 (+)Ensembl
ChlSab1.11153,039,147 - 53,125,041 (+)NCBI
Lrp1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462480210,734,907 - 10,812,888 (-)NCBI

Position Markers
SHGC-141809  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371257,532,843 - 57,533,153UniSTSGRCh37
Build 361255,819,110 - 55,819,420RGDNCBI36
Celera1257,186,781 - 57,187,091RGD
Cytogenetic Map12q13.3UniSTS
HuRef1254,571,204 - 54,571,514UniSTS
TNG Radiation Hybrid Map1226902.0UniSTS
G28611  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371257,606,664 - 57,606,870UniSTSGRCh37
Build 361255,892,931 - 55,893,137RGDNCBI36
Celera1257,260,947 - 57,261,153RGD
Cytogenetic Map12q13.3UniSTS
HuRef1254,645,752 - 54,645,958UniSTS
RH44498  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371257,606,859 - 57,606,979UniSTSGRCh37
Build 361255,893,126 - 55,893,246RGDNCBI36
Celera1257,261,142 - 57,261,262RGD
Cytogenetic Map12q13.3UniSTS
HuRef1254,645,947 - 54,646,067UniSTS
GeneMap99-GB4 RH Map12254.74UniSTS
NCBI RH Map12458.1UniSTS
D12S113E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q13.3UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR205hsa-miR-205-5pMirtarbaseexternal_infoqRT-PCR//Luciferase reporter assay//Western blotFunctional MTI19665999
MIR205hsa-miR-205-5pOncomiRDBexternal_infoNANA19665999
MIR545hsa-miR-545-3pMirtarbaseexternal_infoqRT-PCR//Luciferase reporter assay//Western blotNon-Functional MTI19665999
MIR338hsa-miR-338-5pMirtarbaseexternal_infoqRT-PCR//Luciferase reporter assay//Western blotNon-Functional MTI19665999

Predicted Target Of
Summary Value
Count of predictions:4296
Count of miRNA genes:1172
Interacting mature miRNAs:1510
Transcripts:ENST00000243077, ENST00000338962, ENST00000451724, ENST00000553277, ENST00000553446, ENST00000554118, ENST00000554174, ENST00000555124, ENST00000555941, ENST00000556247, ENST00000556356, ENST00000556830
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2349 2461 1696 619 780 461 4001 1809 3605 266 1403 1496 172 1 1204 2446 5
Low 90 526 28 5 858 4 356 387 129 153 57 116 3 342 1 2
Below cutoff 4 2 292 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC023237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC137628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC137834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF370375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC045107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC072015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU502641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ314873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF491795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF491814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF548054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X13916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X15424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y11437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y13469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z30589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000243077   ⟹   ENSP00000243077
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,128,483 - 57,213,361 (+)Ensembl
RefSeq Acc Id: ENST00000338962   ⟹   ENSP00000341264
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,128,716 - 57,150,059 (+)Ensembl
RefSeq Acc Id: ENST00000451724
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,203,243 - 57,205,785 (+)Ensembl
RefSeq Acc Id: ENST00000553277   ⟹   ENSP00000451449
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,128,493 - 57,150,059 (+)Ensembl
RefSeq Acc Id: ENST00000553446
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,167,445 - 57,169,300 (+)Ensembl
RefSeq Acc Id: ENST00000554118   ⟹   ENSP00000451622
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,187,369 - 57,192,969 (+)Ensembl
RefSeq Acc Id: ENST00000554174   ⟹   ENSP00000451737
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,128,909 - 57,155,593 (+)Ensembl
RefSeq Acc Id: ENST00000555124   ⟹   ENSP00000451012
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,201,108 - 57,203,276 (+)Ensembl
RefSeq Acc Id: ENST00000555941
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,200,274 - 57,201,153 (+)Ensembl
RefSeq Acc Id: ENST00000556247
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,202,820 - 57,203,531 (+)Ensembl
RefSeq Acc Id: ENST00000556356
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,203,618 - 57,213,340 (+)Ensembl
RefSeq Acc Id: ENST00000556830
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,164,428 - 57,166,412 (+)Ensembl
RefSeq Acc Id: NM_002332   ⟹   NP_002323
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,128,483 - 57,213,361 (+)NCBI
GRCh371257,522,282 - 57,607,142 (+)ENTREZGENE
Build 361255,808,549 - 55,893,409 (+)NCBI Archive
HuRef1254,560,642 - 54,624,427 (+)ENTREZGENE
HuRef1254,625,579 - 54,646,229 (+)NCBI
CHM1_11257,489,966 - 57,575,252 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019303   ⟹   XP_016874792
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,128,401 - 57,213,377 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002323   ⟸   NM_002332
- Peptide Label: preproprotein
- UniProtKB: Q07954 (UniProtKB/Swiss-Prot),   Q59FG2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016874792   ⟸   XM_017019303
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000451012   ⟸   ENST00000555124
RefSeq Acc Id: ENSP00000243077   ⟸   ENST00000243077
RefSeq Acc Id: ENSP00000341264   ⟸   ENST00000338962
RefSeq Acc Id: ENSP00000451449   ⟸   ENST00000553277
RefSeq Acc Id: ENSP00000451737   ⟸   ENST00000554174
RefSeq Acc Id: ENSP00000451622   ⟸   ENST00000554118
Protein Domains
EGF-like   EGF_CA   LDL-receptor class A

Promoters
RGD ID:6790226
Promoter ID:HG_KWN:15951
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000393833,   NM_002332,   UC001SNB.2,   UC001SNC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361255,807,616 - 55,808,317 (+)MPROMDB
RGD ID:7224491
Promoter ID:EPDNEW_H17991
Type:multiple initiation site
Name:LRP1_4
Description:LDL receptor related protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17992  EPDNEW_H17994  EPDNEW_H17993  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,128,071 - 57,128,131EPDNEW
RGD ID:7224493
Promoter ID:EPDNEW_H17992
Type:initiation region
Name:LRP1_1
Description:LDL receptor related protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17991  EPDNEW_H17994  EPDNEW_H17993  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,128,483 - 57,128,543EPDNEW
RGD ID:7224497
Promoter ID:EPDNEW_H17993
Type:initiation region
Name:LRP1_2
Description:LDL receptor related protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17991  EPDNEW_H17992  EPDNEW_H17994  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,128,667 - 57,128,727EPDNEW
RGD ID:7224495
Promoter ID:EPDNEW_H17994
Type:initiation region
Name:LRP1_3
Description:LDL receptor related protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17991  EPDNEW_H17992  EPDNEW_H17993  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,128,885 - 57,128,945EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002332.3(LRP1):c.9774C>G (p.His3258Gln) single nucleotide variant Variant of unknown significance [RCV000033099] Chr12:57199309 [GRCh38]
Chr12:57593092 [GRCh37]
Chr12:12q13.3
uncertain significance
GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1 copy number loss See cases [RCV000052813] Chr12:57013355..63042498 [GRCh38]
Chr12:57407139..63436278 [GRCh37]
Chr12:55693406..61722545 [NCBI36]
Chr12:12q13.3-14.2
pathogenic
GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1 copy number loss See cases [RCV000052814] Chr12:57041158..60273934 [GRCh38]
Chr12:57434942..60667715 [GRCh37]
Chr12:55721209..58953982 [NCBI36]
Chr12:12q13.3-14.1
pathogenic
NM_002332.2(LRP1):c.1035C>T (p.Ile345=) single nucleotide variant Malignant melanoma [RCV000070128] Chr12:57154509 [GRCh38]
Chr12:57548292 [GRCh37]
Chr12:55834559 [NCBI36]
Chr12:12q13.3
not provided
NM_002332.2(LRP1):c.2716C>T (p.Arg906Trp) single nucleotide variant Malignant melanoma [RCV000070129] Chr12:57166128 [GRCh38]
Chr12:57559911 [GRCh37]
Chr12:55846178 [NCBI36]
Chr12:12q13.3
not provided
NM_002332.2(LRP1):c.11444C>T (p.Thr3815Ile) single nucleotide variant Malignant melanoma [RCV000070130] Chr12:57205459 [GRCh38]
Chr12:57599242 [GRCh37]
Chr12:55885509 [NCBI36]
Chr12:12q13.3
not provided
NM_002332.2(LRP1):c.2909C>T (p.Ser970Leu) single nucleotide variant Malignant melanoma [RCV000062568] Chr12:57167041 [GRCh38]
Chr12:57560824 [GRCh37]
Chr12:55847091 [NCBI36]
Chr12:12q13.3
not provided
NM_002332.2(LRP1):c.842-886G>T single nucleotide variant Lung cancer [RCV000111130] Chr12:57153322 [GRCh38]
Chr12:57547105 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_002332.3(LRP1):c.3734A>G (p.Lys1245Arg) single nucleotide variant Atrophoderma vermiculatum [RCV000119304]|Keratosis pilaris [RCV000258847] Chr12:57175646 [GRCh38]
Chr12:57569429 [GRCh37]
Chr12:12q13.3
pathogenic|not provided
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
NM_002332.3(LRP1):c.2309G>A (p.Arg770Gln) single nucleotide variant Malignant tumor of prostate [RCV000206857] Chr12:57162423 [GRCh38]
Chr12:57556206 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_002332.3(LRP1):c.11020G>A (p.Asp3674Asn) single nucleotide variant not specified [RCV000413944] Chr12:57204478 [GRCh38]
Chr12:57598261 [GRCh37]
Chr12:12q13.3
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_002332.3(LRP1):c.2379A>C (p.Arg793=) single nucleotide variant not provided [RCV000980295] Chr12:57162493 [GRCh38]
Chr12:57556276 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.10594+8G>A single nucleotide variant not provided [RCV000894787] Chr12:57201913 [GRCh38]
Chr12:57595696 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.3408C>T (p.Asp1136=) single nucleotide variant not provided [RCV000916476] Chr12:57173841 [GRCh38]
Chr12:57567624 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.5904G>A (p.Glu1968=) single nucleotide variant not provided [RCV000917774] Chr12:57183884 [GRCh38]
Chr12:57577667 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.10014+10del deletion not provided [RCV000914340] Chr12:57200035 [GRCh38]
Chr12:57593818 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.6807C>T (p.Asn2269=) single nucleotide variant not provided [RCV000962266] Chr12:57185874 [GRCh38]
Chr12:57579657 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.8893-5T>C single nucleotide variant not provided [RCV000906707] Chr12:57196977 [GRCh38]
Chr12:57590760 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.7980C>T (p.Cys2660=) single nucleotide variant not provided [RCV000966413] Chr12:57194415 [GRCh38]
Chr12:57588198 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.9076+9C>T single nucleotide variant not provided [RCV000901694] Chr12:57197174 [GRCh38]
Chr12:57590957 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.12684T>C (p.Gly4228=) single nucleotide variant not provided [RCV000901695] Chr12:57210410 [GRCh38]
Chr12:57604193 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.12145+9G>A single nucleotide variant not provided [RCV000881649] Chr12:57208826 [GRCh38]
Chr12:57602609 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.7188C>T (p.Ala2396=) single nucleotide variant not provided [RCV000972850] Chr12:57190961 [GRCh38]
Chr12:57584744 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.211C>A (p.Arg71=) single nucleotide variant not provided [RCV000903540] Chr12:57141394 [GRCh38]
Chr12:57535177 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.8442C>T (p.Tyr2814=) single nucleotide variant not provided [RCV000914339] Chr12:57195662 [GRCh38]
Chr12:57589445 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.2877C>T (p.Asp959=) single nucleotide variant not provided [RCV000900903] Chr12:57167009 [GRCh38]
Chr12:57560792 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.6261C>T (p.Arg2087=) single nucleotide variant not provided [RCV000892254] Chr12:57184913 [GRCh38]
Chr12:57578696 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.7636G>A (p.Gly2546Ser) single nucleotide variant not provided [RCV000973039] Chr12:57193256 [GRCh38]
Chr12:57587039 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.10728C>T (p.Ser3576=) single nucleotide variant not provided [RCV000973040] Chr12:57203197 [GRCh38]
Chr12:57596980 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.3387T>C (p.Asn1129=) single nucleotide variant not provided [RCV000969631] Chr12:57173820 [GRCh38]
Chr12:57567603 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.3771C>T (p.Asp1257=) single nucleotide variant not provided [RCV000882766] Chr12:57175683 [GRCh38]
Chr12:57569466 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.7415A>G (p.Asn2472Ser) single nucleotide variant not provided [RCV000880290] Chr12:57191498 [GRCh38]
Chr12:57585281 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.7773T>C (p.Cys2591=) single nucleotide variant not provided [RCV000892840] Chr12:57193654 [GRCh38]
Chr12:57587437 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.9259C>T (p.His3087Tyr) single nucleotide variant not provided [RCV000905303] Chr12:57197641 [GRCh38]
Chr12:57591424 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.2301C>T (p.Arg767=) single nucleotide variant not provided [RCV000903002] Chr12:57162415 [GRCh38]
Chr12:57556198 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.11137G>A (p.Gly3713Arg) single nucleotide variant not provided [RCV000968911] Chr12:57204692 [GRCh38]
Chr12:57598475 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.8457C>T (p.Asp2819=) single nucleotide variant not provided [RCV000906518] Chr12:57195677 [GRCh38]
Chr12:57589460 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.7662C>T (p.Ser2554=) single nucleotide variant not provided [RCV000903210] Chr12:57193282 [GRCh38]
Chr12:57587065 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.12405C>T (p.Asp4135=) single nucleotide variant not provided [RCV000900000] Chr12:57209834 [GRCh38]
Chr12:57603617 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.8884G>A (p.Gly2962Ser) single nucleotide variant not provided [RCV000965897] Chr12:57196269 [GRCh38]
Chr12:57590052 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.7838G>A (p.Arg2613Gln) single nucleotide variant not provided [RCV000895100] Chr12:57193932 [GRCh38]
Chr12:57587715 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.5874C>T (p.Asp1958=) single nucleotide variant not provided [RCV000952981] Chr12:57183854 [GRCh38]
Chr12:57577637 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.2169C>T (p.Ile723=) single nucleotide variant not provided [RCV000899008] Chr12:57161082 [GRCh38]
Chr12:57554865 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.4311C>T (p.Asn1437=) single nucleotide variant not provided [RCV000901693] Chr12:57177541 [GRCh38]
Chr12:57571324 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.13098G>A (p.Thr4366=) single nucleotide variant not provided [RCV000894788] Chr12:57211493 [GRCh38]
Chr12:57605276 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.5130C>T (p.His1710=) single nucleotide variant not provided [RCV000897369] Chr12:57179945 [GRCh38]
Chr12:57573728 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.7086G>A (p.Ala2362=) single nucleotide variant not provided [RCV000903209] Chr12:57190859 [GRCh38]
Chr12:57584642 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.11336-4A>G single nucleotide variant not provided [RCV000895022] Chr12:57205347 [GRCh38]
Chr12:57599130 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.2339C>T (p.Thr780Ile) single nucleotide variant not provided [RCV000968689] Chr12:57162453 [GRCh38]
Chr12:57556236 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.6570C>T (p.Asp2190=) single nucleotide variant not provided [RCV000967768] Chr12:57185637 [GRCh38]
Chr12:57579420 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.3644G>A (p.Gly1215Glu) single nucleotide variant not provided [RCV000963304] Chr12:57175556 [GRCh38]
Chr12:57569339 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.3288C>T (p.Ser1096=) single nucleotide variant not provided [RCV000897666] Chr12:57173292 [GRCh38]
Chr12:57567075 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.12332G>A (p.Arg4111His) single nucleotide variant not provided [RCV000967276] Chr12:57209761 [GRCh38]
Chr12:57603544 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.8883C>T (p.Ile2961=) single nucleotide variant not provided [RCV000954144] Chr12:57196268 [GRCh38]
Chr12:57590051 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.6186+8C>T single nucleotide variant not provided [RCV000932307] Chr12:57184460 [GRCh38]
Chr12:57578243 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.8322C>T (p.Cys2774=) single nucleotide variant not provided [RCV000960278] Chr12:57195284 [GRCh38]
Chr12:57589067 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.6747G>A (p.Pro2249=) single nucleotide variant not provided [RCV000898421] Chr12:57185814 [GRCh38]
Chr12:57579597 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.7605C>T (p.Gly2535=) single nucleotide variant not provided [RCV000895153] Chr12:57193225 [GRCh38]
Chr12:57587008 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.10179C>T (p.Cys3393=) single nucleotide variant not provided [RCV000963585] Chr12:57200769 [GRCh38]
Chr12:57594552 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.8058C>T (p.Arg2686=) single nucleotide variant not provided [RCV000917996] Chr12:57194493 [GRCh38]
Chr12:57588276 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.10129G>A (p.Gly3377Arg) single nucleotide variant not provided [RCV000844948] Chr12:57200719 [GRCh38]
Chr12:57594502 [GRCh37]
Chr12:12q13.3
not provided
NM_002332.3(LRP1):c.10277G>C (p.Cys3426Ser) single nucleotide variant not provided [RCV000844970] Chr12:57201085 [GRCh38]
Chr12:57594868 [GRCh37]
Chr12:12q13.3
not provided
NM_002332.3(LRP1):c.2996-6C>T single nucleotide variant not provided [RCV000940397] Chr12:57169134 [GRCh38]
Chr12:57562917 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.9519C>T (p.Ile3173=) single nucleotide variant not provided [RCV000977414] Chr12:57198513 [GRCh38]
Chr12:57592296 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.6351C>T (p.Asn2117=) single nucleotide variant not provided [RCV000979626] Chr12:57185093 [GRCh38]
Chr12:57578876 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.9411G>A (p.Thr3137=) single nucleotide variant not provided [RCV000894769] Chr12:57198284 [GRCh38]
Chr12:57592067 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.1576C>G (p.Leu526Val) single nucleotide variant Tricuspid atresia (disease) [RCV001007928] Chr12:57158416 [GRCh38]
Chr12:57552199 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_002332.3(LRP1):c.13559C>G (p.Ser4520Cys) single nucleotide variant Tricuspid atresia (disease) [RCV001007929] Chr12:57212479 [GRCh38]
Chr12:57606262 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_002332.3(LRP1):c.10929C>T (p.Asp3643=) single nucleotide variant not provided [RCV000971597] Chr12:57203499 [GRCh38]
Chr12:57597282 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.4416T>C (p.Leu1472=) single nucleotide variant not provided [RCV000932291] Chr12:57178413 [GRCh38]
Chr12:57572196 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.4899C>T (p.Asp1633=) single nucleotide variant not provided [RCV000954282] Chr12:57179489 [GRCh38]
Chr12:57573272 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.12161A>T (p.Tyr4054Phe) single nucleotide variant not provided [RCV000905102] Chr12:57209098 [GRCh38]
Chr12:57602881 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.489A>G (p.Leu163=) single nucleotide variant not provided [RCV000907788] Chr12:57145012 [GRCh38]
Chr12:57538795 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.11496C>T (p.Gly3832=) single nucleotide variant not provided [RCV000907789] Chr12:57205583 [GRCh38]
Chr12:57599366 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.11616C>T (p.Ile3872=) single nucleotide variant not provided [RCV000954467] Chr12:57206498 [GRCh38]
Chr12:57600281 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.8069-9G>A single nucleotide variant not provided [RCV000909129] Chr12:57194568 [GRCh38]
Chr12:57588351 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.8319G>A (p.Thr2773=) single nucleotide variant not provided [RCV000909130] Chr12:57195281 [GRCh38]
Chr12:57589064 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.3507C>T (p.Asn1169=) single nucleotide variant not provided [RCV000953665] Chr12:57173940 [GRCh38]
Chr12:57567723 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.10711+4C>T single nucleotide variant not provided [RCV000953666] Chr12:57202541 [GRCh38]
Chr12:57596324 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.8490C>T (p.Cys2830=) single nucleotide variant not provided [RCV000897082] Chr12:57195710 [GRCh38]
Chr12:57589493 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.543G>A (p.Leu181=) single nucleotide variant not provided [RCV000910113] Chr12:57145066 [GRCh38]
Chr12:57538849 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.2314G>A (p.Val772Ile) single nucleotide variant not provided [RCV000923348] Chr12:57162428 [GRCh38]
Chr12:57556211 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.1458G>A (p.Pro486=) single nucleotide variant not provided [RCV000903317] Chr12:57156817 [GRCh38]
Chr12:57550600 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.7092G>T (p.Ser2364=) single nucleotide variant not provided [RCV000897370] Chr12:57190865 [GRCh38]
Chr12:57584648 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.1440C>T (p.Asn480=) single nucleotide variant not provided [RCV000917773] Chr12:57156799 [GRCh38]
Chr12:57550582 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.8262C>T (p.Asp2754=) single nucleotide variant not provided [RCV000888916] Chr12:57195055 [GRCh38]
Chr12:57588838 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.7653G>A (p.Lys2551=) single nucleotide variant not provided [RCV000886964] Chr12:57193273 [GRCh38]
Chr12:57587056 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.958C>T (p.Leu320=) single nucleotide variant not provided [RCV000933360] Chr12:57154324 [GRCh38]
Chr12:57548107 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.3164-23_3164-10del deletion not provided [RCV000895021] Chr12:57173145..57173158 [GRCh38]
Chr12:57566928..57566941 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.762G>A (p.Thr254=) single nucleotide variant not provided [RCV000955446] Chr12:57145411 [GRCh38]
Chr12:57539194 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.4236C>T (p.Arg1412=) single nucleotide variant not provided [RCV000951124] Chr12:57177466 [GRCh38]
Chr12:57571249 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.10905C>T (p.Asp3635=) single nucleotide variant not provided [RCV000906768] Chr12:57203475 [GRCh38]
Chr12:57597258 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.10434C>T (p.Asp3478=) single nucleotide variant not provided [RCV000952703] Chr12:57201585 [GRCh38]
Chr12:57595368 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.10767G>T (p.Ala3589=) single nucleotide variant not provided [RCV000971397] Chr12:57203236 [GRCh38]
Chr12:57597019 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.300C>T (p.Asp100=) single nucleotide variant Keratosis pilaris [RCV001195645] Chr12:57141483 [GRCh38]
Chr12:57535266 [GRCh37]
Chr12:12q13.3
likely pathogenic
NM_002332.3(LRP1):c.12288C>T (p.Asp4096=) single nucleotide variant not provided [RCV000913663] Chr12:57209717 [GRCh38]
Chr12:57603500 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.10806C>T (p.Asp3602=) single nucleotide variant not provided [RCV000911499] Chr12:57203275 [GRCh38]
Chr12:57597058 [GRCh37]
Chr12:12q13.3
likely benign
NM_002332.3(LRP1):c.6369G>C (p.Gly2123=) single nucleotide variant not provided [RCV000957089] Chr12:57185111 [GRCh38]
Chr12:57578894 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.6471C>T (p.Asn2157=) single nucleotide variant not provided [RCV000957090] Chr12:57185538 [GRCh38]
Chr12:57579321 [GRCh37]
Chr12:12q13.3
benign
NM_002332.3(LRP1):c.6585C>T (p.Arg2195=) single nucleotide variant not provided [RCV000957091] Chr12:57185652 [GRCh38]
Chr12:57579435 [GRCh37]
Chr12:12q13.3
benign
GRCh37/hg19 12q13.3-14.1(chr12:57582163-59031979)x1 copy number loss not provided [RCV001006506] Chr12:57582163..59031979 [GRCh37]
Chr12:12q13.3-14.1
likely pathogenic
GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3 copy number gain not provided [RCV001006505] Chr12:55552371..62126304 [GRCh37]
Chr12:12q13.2-14.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6692 AgrOrtholog
COSMIC LRP1 COSMIC
Ensembl Genes ENSG00000123384 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000243077 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000341264 UniProtKB/Swiss-Prot
  ENSP00000451012 UniProtKB/TrEMBL
  ENSP00000451449 UniProtKB/TrEMBL
  ENSP00000451622 UniProtKB/TrEMBL
  ENSP00000451737 UniProtKB/TrEMBL
Ensembl Transcript ENST00000243077 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000338962 UniProtKB/Swiss-Prot
  ENST00000553277 UniProtKB/TrEMBL
  ENST00000554118 UniProtKB/TrEMBL
  ENST00000554174 UniProtKB/TrEMBL
  ENST00000555124 UniProtKB/TrEMBL
Gene3D-CATH 2.120.10.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.400.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000123384 GTEx
HGNC ID HGNC:6692 ENTREZGENE
Human Proteome Map LRP1 Human Proteome Map
InterPro 6-blade_b-propeller_TolB-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  cEGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DUF5050 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_Ca-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-type_Asp/Asn_hydroxyl_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_Ca-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDL_receptor-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLR_class-A_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLR_classB_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDrepeatLR_classA_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4035 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4035 ENTREZGENE
OMIM 107770 OMIM
  604093 OMIM
Pfam cEGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DUF5050 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ldl_recept_a UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ldl_recept_b UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA233 PharmGKB
PRINTS LDLRECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ASX_HYDROXYL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLRA_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLRA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLRB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLa UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00135 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57184 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57424 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.162757 ENTREZGENE
UniProt H0YJ88_HUMAN UniProtKB/TrEMBL
  H0YJI8_HUMAN UniProtKB/TrEMBL
  L0R6J6_HUMAN UniProtKB/TrEMBL
  LRP1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q59FG2 ENTREZGENE, UniProtKB/TrEMBL
  Q6PJ72_HUMAN UniProtKB/TrEMBL
  Q7Z7K9_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q2PP12 UniProtKB/Swiss-Prot
  Q86SW0 UniProtKB/Swiss-Prot
  Q8IVG8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 LRP1  LDL receptor related protein 1    low density lipoprotein receptor-related protein 1  Symbol and/or name change 5135510 APPROVED
2011-08-16 LRP1  low density lipoprotein receptor-related protein 1  LRP1  low density lipoprotein receptor-related protein 1  Symbol and/or name change 5135510 APPROVED
2011-07-27 LRP1  low density lipoprotein receptor-related protein 1  LRP1  low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor)  Symbol and/or name change 5135510 APPROVED