Description: Homo sapiens low density lipoprotein receptor-related protein 8, apolipoprotein e receptor (LRP8), transcript variant 4, mRNA. RefSeq Summary (NM_001018054): This gene encodes a member of the low density lipoprotein receptor (LDLR) family. Low density lipoprotein receptors are cell surface proteins that play roles in both signal transduction and receptor-mediated endocytosis of specific ligands for lysosomal degradation. The encoded protein plays a critical role in the migration of neurons during development by mediating Reelin signaling, and also functions as a receptor for the cholesterol transport protein apolipoprotein E. Expression of this gene may be a marker for major depressive disorder. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011]. Transcript (Including UTRs) Position: hg19 chr1:53,708,041-53,793,821 Size: 85,781 Total Exon Count: 18 Strand: - Coding Region Position: hg19 chr1:53,712,690-53,793,584 Size: 80,895 Coding Exon Count: 18
birth weight fetal growth Wang, L. et al. 2006, Polymorphism in Maternal LRP8 Gene Is Associated with Fetal Growth, Am J Hum Genet 2006 78(5) 770-7.
[PubMed 16642433]
results from the two independent samples of black women provide consistent evidence that SNP rs2297660 in LRP8 is associated with fetal growth.
Pulmonary Disease, Chronic Obstructive Mateusz Siedlinski et al. Thorax 2011, Genome-wide association study of smoking behaviours in patients with COPD., Thorax.
[PubMed 21685187]
The authors identified two candidate regions associated with age at smoking initiation in patients with COPD.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
Pfam Domains: PF00057 - Low-density lipoprotein receptor domain class A PF00058 - Low-density lipoprotein receptor repeat class B PF07645 - Calcium-binding EGF domain PF12662 - Complement Clr-like EGF-like PF14670 - Coagulation Factor Xa inhibitory site
ModBase Predicted Comparative 3D Structure on Q14114-3
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
HZ466382 - JP 2015532642-A/6: MicroRNAs that Suppress Human Melanoma. HZ466383 - JP 2015532642-A/7: MicroRNAs that Suppress Human Melanoma. HZ466384 - JP 2015532642-A/8: MicroRNAs that Suppress Human Melanoma. HZ466385 - JP 2015532642-A/9: MicroRNAs that Suppress Human Melanoma. LP722498 - Sequence 11 from Patent EP2882496. LP722500 - Sequence 13 from Patent EP2882496. LP722502 - Sequence 15 from Patent EP2882496. LP722504 - Sequence 17 from Patent EP2882496. D50678 - Homo sapiens mRNA for apolipoprotein E receptor 2, complete cds. BC051836 - Homo sapiens low density lipoprotein receptor-related protein 8, apolipoprotein e receptor, mRNA (cDNA clone MGC:60136 IMAGE:6143442), complete cds. AK096482 - Homo sapiens cDNA FLJ39163 fis, clone OCBBF2002615, highly similar to Low-density lipoprotein receptor-related protein 8 precursor. Z75190 - H.sapiens mRNA for apolipoprotein E receptor 2. MA622447 - JP 2018140982-A/6: MicroRNAs that Suppress Human Melanoma. MA622448 - JP 2018140982-A/7: MicroRNAs that Suppress Human Melanoma. MA622449 - JP 2018140982-A/8: MicroRNAs that Suppress Human Melanoma. MA622450 - JP 2018140982-A/9: MicroRNAs that Suppress Human Melanoma. MP557062 - Sequence 11 from Patent EP3626309. MP557064 - Sequence 13 from Patent EP3626309. MP557066 - Sequence 15 from Patent EP3626309. MP557068 - Sequence 17 from Patent EP3626309. BC006443 - Homo sapiens, Similar to low density lipoprotein receptor-related protein 8, apolipoprotein e receptor, clone IMAGE:3534195, mRNA, partial cds. JD339082 - Sequence 320106 from Patent EP1572962. JD314863 - Sequence 295887 from Patent EP1572962. JD491656 - Sequence 472680 from Patent EP1572962. JD369165 - Sequence 350189 from Patent EP1572962. JD365525 - Sequence 346549 from Patent EP1572962. JD197927 - Sequence 178951 from Patent EP1572962. JD232850 - Sequence 213874 from Patent EP1572962. JD323948 - Sequence 304972 from Patent EP1572962. JD503899 - Sequence 484923 from Patent EP1572962. JD093595 - Sequence 74619 from Patent EP1572962. AK122887 - Homo sapiens cDNA FLJ16536 fis, clone OCBBF2032152, highly similar to Homo sapiens low density lipoprotein receptor-related protein 8, apolipoprotein e receptor (LRP8). JD407051 - Sequence 388075 from Patent EP1572962. JD407050 - Sequence 388074 from Patent EP1572962. JD095135 - Sequence 76159 from Patent EP1572962. JD407402 - Sequence 388426 from Patent EP1572962. JD138731 - Sequence 119755 from Patent EP1572962.
Biochemical and Signaling Pathways
BioCarta from NCI Cancer Genome Anatomy Project h_Lis1Pathway - Lissencephaly gene (LIS1) in neuronal migration and development h_reelinPathway - Reelin Signaling Pathway
Reactome (by CSHL, EBI, and GO)
Protein Q14114 (Reactome details) participates in the following event(s):
US Server
