LRP8 - LDL receptor related protein 8 Gene

Also Known as MCI1; LRP-8; APOER2; HSZ75190

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7804

About LRP8

Cytogenetic location: 1p32.3 Genomic coordinates (GRCh38): 1:53,242,364-53,328,070 (from NCBI)

This gene has 36 transcripts (splice variants), 286 orthologues, 14 paralogues and is associated with 1 phenotype. Biased expression in thyroid (RPKM 23.6), testis (RPKM 14.4) and 4 other tissues.

Summary

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]

LRP8 Products (4)

mRNA Protein Name
NM_001018054.3 NP_001018064.1 low-density lipoprotein receptor-related protein 8 isoform 4 precursor
NM_004631.5 NP_004622.2 low-density lipoprotein receptor-related protein 8 isoform 1 precursor
NM_017522.5 NP_059992.3 low-density lipoprotein receptor-related protein 8 isoform 3 precursor
NM_033300.4 NP_150643.2 low-density lipoprotein receptor-related protein 8 isoform 2 precursor
Molecular Function GO Annotation Evidence Références Source
enables protein binding IPI
IPI: Inferred from physical interaction
12950167 GOA
enables very-low-density lipoprotein particle receptor activity IDA
IDA: Inferred from direct assay
8626535 GOA
Biological Process GO Annotation Evidence Références Source
involved in endocytosis IDA
IDA: Inferred from direct assay
8626535 GOA
Cellular Component GO Annotation Evidence Références Source
located in caveola IDA
IDA: Inferred from direct assay
11369809 GOA
is active in plasma membrane IDA
IDA: Inferred from direct assay
30873003 GOA
part of receptor complex IDA
IDA: Inferred from direct assay
23382219 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LRP8 Protein Structure

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (46 - 81)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (84 - 122)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (127 - 163)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (167 - 201)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (204 - 243)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (259 - 294)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (298 - 333)

FXa_inhibition

FXa_inhibition: Coagulation Factor Xa inhibitory site (340 - 374)

EGF_CA

EGF_CA: Calcium-binding EGF domain (376 - 414)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (462 - 506)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (510 - 549)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (552 - 592)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (596 - 637)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (639 - 679)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 963 a.a.
Protein Preferred Names Protein Names

low-density lipoprotein receptor-related protein 8

  • ApoE receptor 2

LRP8 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
LRP8 Q14114 APC Homo sapiens P25054 19116273
Intra
LRP8 Q14114 APC Homo sapiens P25054
SPR
19116273
Cross
LRP8 Q14114 Reln Mus musculus Q60841 20223215
Cross: Cross-species interaction Intra: Intraspecies interaction

LRP8 Anticorps

Cat. No. Nom du produit Application Reactivity
HY-P81771 ApoE Antibody (YA1516) WB, IHC-P, ICC/IF, IP Human, Mouse
HY-P81771A ApoE Antibody (YA1516)(PBS only) WB, IHC-P, ICC/IF, IP Human, Mouse
HY-P82383 ApoER2 Antibody (YA2128) WB, IP Human, Rat, Hamster
HY-P82383A ApoER2 Antibody (YA2128)(PBS only) WB, IP Human, Rat, Hamster
HY-P84562 ApoER2 Antibody (YA4259) FC, ELISA Human
HY-P84562A ApoER2 Antibody (YA4259)(PBS only) FC, ELISA Human

Related Diseases

Diseases Alias
Myocardial Infarction
  • Heart Attack

  • Myocardial Infarction, Susceptibility To

  • Myocardial Infarction 1

  • Myocardial Infarction, Protection Against

  • Myocardial Infarction, Decreased Susceptibility To

  • Myocardial Infarction, Decreased

  • Myocardial Infarct

  • MCI1

  • Premature Myocardial Infarction

  • Myocardial Infarction, Susceptibility To, Type 1

Osteoporosis-Pseudoglioma Syndrome
  • OPPG

  • Ops

  • Osteoporosis With Pseudoglioma

  • Osteogenesis Imperfecta, Ocular Form

  • Ocular Form Of Osteogenesis Imperfecta

  • Osteogenesis Imperfecta Ocular Form

  • Osteoporosis Pseudoglioma Syndrome

  • Pseudoglioma With Bone Fragility

Lissencephaly
  • Pachygyria

  • Broad Gyri Of Cerebrum

  • Large Gyri Of Cerebrum

  • Macrogyria

Cerebellar Hypoplasia
Major Depressive Disorder
  • Seasonal Affective Disorder

  • Unipolar Depression

  • Depression

  • MDD

  • Depressive Disorder

  • Unipolar Depression, Susceptibility To

  • Major Depressive Disorder 1

  • Major Depressive Disorder, Response To Citalopram Therapy In

  • Major Depressive Disorder 2

  • Winter Depression

  • Single Major Depressive Episode

  • Sad

  • Clinical Depression

  • Major Depression

  • Depressive Syndrome

  • Major Depressive Disorder And Accelerated Response To Antidepressant Drug Treatment

  • Seasonal Affective Disorder, Susceptibility To

  • Recurrent Major Depression

  • Affective Disorder, Seasonal

  • Depression In A Seasonal Pattern

  • Depression

  • Seasonal

  • Major Depressive Disorder With A Seasonal Pattern

  • Seasonal Depression

  • Seasonal Mood Disorder

  • Mental Depression

  • Recurrent Major Depressive Episodes

Lissencephaly 2
  • Norman-Roberts Syndrome

  • Lissencephaly Syndrome, Norman-Roberts Type

  • LIS2

  • Lissencephaly With Cerebellar Hypoplasia

  • Lch

  • Lissencephaly Syndrome Norman-Roberts Type

  • Norman Roberts Lissencephaly Syndrome

  • Lissencephaly 3

  • Lis3

  • Microlissencephaly Type A

  • Norman-Roberts Lissencephaly Syndrome

  • Lissencephaly, Type 2

  • Cobblestone Lissencephaly

Donnai-Barrow Syndrome
  • Faciooculoacousticorenal Syndrome

  • Dbs/Foar Syndrome

  • Foar Syndrome

  • Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome

  • Facio-Oculo-Acoustico-Renal Syndrome

  • Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, And Proteinuria

  • Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome

  • Holmes-Schepens Syndrome

  • Syndrome Of Ocular And Facial Anomalies, Telecanthus And Deafness

  • DBS

  • Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness And Proteinuria

  • Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis

  • Diaphragmatic Hernia-Hypertelorism-Myopia-Hearing Loss Syndrome

  • Syndrome Of Ocular And Facial Anomalies, Telecanthus And Hearing Loss

  • Donnai Barrow Syndrome

Spinocerebellar Ataxia 37
  • Spinocerebellar Ataxia Type 37

  • SCA37

  • Spinocerebellar Ataxia With Altered Vertical Eye Movements

Bartter Syndrome, Type 4a, Neonatal, With Sensorineural Deafness
  • Bsnd

  • Sensorineural Deafness With Mild Renal Dysfunction

  • Bartter Disease Type 4a

  • BARTS4A

  • Bartter Syndrome, Type 4a

  • Bartter Syndrome Type 4

  • Bartter Syndrome, Neonatal, With Sensorineural Deafness

  • Bartter Syndrome With Sensorineural Deafness

  • Bartter Syndrome Type 4a

  • Neonatal Bartter Syndrome With Sensorineural Deafness

  • Bartter Syndrome Type Iv

  • Bartter Syndrome With Sensorineural Hearing Loss

  • Bartter Syndrome 4a, Neonatal, With Sensorineural Deafness

  • Hyperprostanglandin E Syndrome 4

  • Hypokalemic Alkalosis With Hypercalciuria Antenatal 4

  • Infantile Bartter Syndrome With Sensorineural Deafness

Alzheimer Disease, Familial, 1
  • Alzheimer Disease

  • Alzheimer'S Disease

  • Presenile And Senile Dementia

  • AD1

  • Alzheimer Disease, Susceptibility To

  • Alzheimer Disease, Late-Onset, Susceptibility To

  • Alzheimer Disease 1, Familial

  • AD

  • Familial Alzheimer Disease

  • Alzheimer Disease, Late-Onset

  • Alzheimers Dementia

  • Alzheimer Dementia

  • Alzheimer Sclerosis

  • Alzheimer Syndrome

  • Alzheimer-Type Dementia

  • Dat

  • Primary Senile Degenerative Dementia

  • Sdat

  • Alzheimer Disease 1

  • Autosomal Dominant Alzheimer Disease

  • Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

  • Late Onset Alzheimer Disease

  • Alzheimers Disease

  • Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

  • Late-Onset Alzheimers Disease

  • Alzheimer'S Disease Pathway Kegg

  • Dementia Due To Alzheimer'S Disease

  • Alzheimer Disease Type 1

  • Alzheimers

Schizophrenia
  • SCZD

  • Schizophrenia With Or Without An Affective Disorder

  • Schizophrenia 12

  • Schizophrenia, Susceptibility To

  • Schizophrenia-1

  • Dementia Praecox

  • Schizophrenia 1

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus LRP8 VGNC VGNC:68092
Macaca mulatta LRP8 VGNC VGNC:74447
Bos taurus LRP8 VGNC VGNC:30994
Canis familiaris LRP8 VGNC VGNC:42779
Rattus norvegicus LRP8 RGD RGD:1305729
Mus musculus LRP8 MGD MGI:1340044
Others LRP8 NCBI