LRP8 LDL receptor related protein 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LRP8provided by HGNC
Official Full Name: LDL receptor related protein 8provided by HGNC
Primary source: HGNC:HGNC:6700
See related: Ensembl:ENSG00000157193 MIM:602600; AllianceGenome:HGNC:6700
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MCI1; LRP-8; APOER2; HSZ75190
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]
Expression: Biased expression in thyroid (RPKM 23.6), testis (RPKM 14.4) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p32.3

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (53242364..53328070, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (53123827..53210280, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (53708036..53793742, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

OCRL1 Deficiency Affects the Intracellular Traffic of ApoER2 and Impairs Reelin-Induced Responses.
Title: OCRL1 Deficiency Affects the Intracellular Traffic of ApoER2 and Impairs Reelin-Induced Responses.
LRP8 promotes tumorigenesis in ovarian cancer through inhibiting p53 signaling.
Title: LRP8 promotes tumorigenesis in ovarian cancer through inhibiting p53 signaling.
Spon1+ inflammatory monocytes promote collagen remodeling and lung cancer metastasis through lipoprotein receptor 8 signaling.
Title: Spon1+ inflammatory monocytes promote collagen remodeling and lung cancer metastasis through lipoprotein receptor 8 signaling.
The Reelin receptor ApoER2 is a cargo for the adaptor protein complex AP-4: Implications for Hereditary Spastic Paraplegia.
Title: The Reelin receptor ApoER2 is a cargo for the adaptor protein complex AP-4: Implications for Hereditary Spastic Paraplegia.
MiR-378a-5p exerts a radiosensitizing effect on CRC through LRP8/beta-catenin axis.
Title: MiR-378a-5p exerts a radiosensitizing effect on CRC through LRP8/β-catenin axis.
ApoER2-Dab1 disruption as the origin of pTau-associated neurodegeneration in sporadic Alzheimer's disease.
Title: ApoER2-Dab1 disruption as the origin of pTau-associated neurodegeneration in sporadic Alzheimer's disease.
LRP8-mediated selenocysteine uptake is a targetable vulnerability in MYCN-amplified neuroblastoma.
Title: LRP8-mediated selenocysteine uptake is a targetable vulnerability in MYCN-amplified neuroblastoma.
LRP8, modulated by miR-1262, promotes tumour progression and forecasts the prognosis of patients in breast cancer.
Title: LRP8, modulated by miR-1262, promotes tumour progression and forecasts the prognosis of patients in breast cancer.
Human APOER2 Isoforms Have Differential Cleavage Events and Synaptic Properties.
Title: Human APOER2 Isoforms Have Differential Cleavage Events and Synaptic Properties.
miR-30b-5p inhibits cancer progression and enhances cisplatin sensitivity in lung cancer through targeting LRP8.
Title: miR-30b-5p inhibits cancer progression and enhances cisplatin sensitivity in lung cancer through targeting LRP8.

Submit: New GeneRIF Correction See all GeneRIFs (66)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Myocardial infarction, susceptibility to MedGen: C1832662 OMIM: 608446 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

SHGC-74840 (e-PCR)
- UniSTS:49034

SHGC-148805 (e-PCR)
- UniSTS:176620

LRP8_3896 (e-PCR)
- UniSTS:462322

AL033818 (e-PCR)
- UniSTS:93683

SHGC-32417 (e-PCR)
- UniSTS:5885

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables amyloid-beta binding	IEA Inferred from Electronic Annotation more info
enables apolipoprotein binding	IC Inferred by Curator more info	PubMed
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables calcium-dependent protein binding	IEA Inferred from Electronic Annotation more info
enables cargo receptor activity	NAS Non-traceable Author Statement more info	PubMed
enables high-density lipoprotein particle binding	IEA Inferred from Electronic Annotation more info
enables kinesin binding	IEA Inferred from Electronic Annotation more info
enables low-density lipoprotein particle receptor activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables reelin receptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables transmembrane signaling receptor activity	TAS Traceable Author Statement more info	PubMed
enables very-low-density lipoprotein particle receptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in ammon gyrus development	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to cholesterol	IEA Inferred from Electronic Annotation more info
involved_in cellular response to growth factor stimulus	IEA Inferred from Electronic Annotation more info
involved_in chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in cytokine-mediated signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in dendrite morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in endocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in layer formation in cerebral cortex	IEA Inferred from Electronic Annotation more info
involved_in layer formation in cerebral cortex	ISS Inferred from Sequence or Structural Similarity more info
involved_in lipid metabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in modulation of chemical synaptic transmission	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of dendrite development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of dendritic spine morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in proteolysis	NAS Non-traceable Author Statement more info	PubMed
involved_in reelin-mediated signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of innate immune response	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in retinoid metabolic process	TAS Traceable Author Statement more info
involved_in signal transduction	TAS Traceable Author Statement more info
involved_in ventral spinal cord development	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in Schaffer collateral - CA1 synapse	IEA Inferred from Electronic Annotation more info
located_in axon	IEA Inferred from Electronic Annotation more info
is_active_in caveola	IBA Inferred from Biological aspect of Ancestor more info
located_in caveola	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in extracellular space	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
located_in membrane	IC Inferred by Curator more info	PubMed
part_of microtubule associated complex	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic density membrane	IEA Inferred from Electronic Annotation more info
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: low-density lipoprotein receptor-related protein 8

Names: ApoE receptor 2; low density lipoprotein receptor-related protein 8, apolipoprotein e receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011517.2 RefSeqGene

Range

5080..90786

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001018054.3 → NP_001018064.1 low-density lipoprotein receptor-related protein 8 isoform 4 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an exon in the 3' coding region but maintains the reading frame, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.

Source sequence(s)

AL355483, AL606760, BC051836, DB452432

Consensus CDS

CCDS30720.1

UniProtKB/TrEMBL

A0A590UJF9

Related

ENSP00000360509.2, ENST00000371454.6

Conserved Domains (7) summary

smart00192
Location:85 → 117

LDLa; Low-density lipoprotein receptor domain class A

smart00135
Location:489 → 531

LY; Low-density lipoprotein-receptor YWTD domain

smart00179
Location:376 → 406

EGF_CA; Calcium-binding EGF-like domain

cd00112
Location:47 → 81

LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

pfam00057
Location:262 → 294

Ldl_recept_a; Low-density lipoprotein receptor domain class A

pfam00058
Location:552 → 592

Ldl_recept_b; Low-density lipoprotein receptor repeat class B

pfam14670
Location:340 → 374

FXa_inhibition; Coagulation Factor Xa inhibitory site
NM_004631.5 → NP_004622.2 low-density lipoprotein receptor-related protein 8 isoform 1 precursor

See identical proteins and their annotated locations for NP_004622.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AL355483, AL606760, BC006443, D50678, DR002432

Consensus CDS

CCDS578.1

UniProtKB/Swiss-Prot

B1AMT6, B1AMT7, B1AMT8, O14968, Q14114, Q86V27, Q99876, Q9BR78

UniProtKB/TrEMBL

A0A590UJ57

Related

ENSP00000303634.6, ENST00000306052.12

Conserved Domains (7) summary

smart00192
Location:85 → 117

LDLa; Low-density lipoprotein receptor domain class A

smart00135
Location:489 → 531

LY; Low-density lipoprotein-receptor YWTD domain

smart00179
Location:376 → 406

EGF_CA; Calcium-binding EGF-like domain

cd00112
Location:47 → 81

LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

pfam00057
Location:262 → 294

Ldl_recept_a; Low-density lipoprotein receptor domain class A

pfam00058
Location:552 → 592

Ldl_recept_b; Low-density lipoprotein receptor repeat class B

pfam14670
Location:340 → 374

FXa_inhibition; Coagulation Factor Xa inhibitory site
NM_017522.5 → NP_059992.3 low-density lipoprotein receptor-related protein 8 isoform 3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks three exons in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.

Source sequence(s)

AL119002, AL355483, AL606760, BC051836, BE543079, DB452432, Z75190

Consensus CDS

CCDS579.1

UniProtKB/TrEMBL

A0A590UK84

Related

ENSP00000346391.3, ENST00000354412.7

Conserved Domains (7) summary

smart00192
Location:85 → 117

LDLa; Low-density lipoprotein receptor domain class A

smart00135
Location:360 → 402

LY; Low-density lipoprotein-receptor YWTD domain

smart00179
Location:247 → 277

EGF_CA; Calcium-binding EGF-like domain

cd00112
Location:47 → 81

LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

pfam00057
Location:169 → 204

Ldl_recept_a; Low-density lipoprotein receptor domain class A

pfam00058
Location:423 → 463

Ldl_recept_b; Low-density lipoprotein receptor repeat class B

pfam14670
Location:211 → 245

FXa_inhibition; Coagulation Factor Xa inhibitory site
NM_033300.4 → NP_150643.2 low-density lipoprotein receptor-related protein 8 isoform 2 precursor

See identical proteins and their annotated locations for NP_150643.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks two consecutive coding exons but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AL119002, AL355483, AL606760, BC006443, CD300289, DB455425

Consensus CDS

CCDS580.1

UniProtKB/TrEMBL

A0A590UJ98

Related

ENSP00000334522.2, ENST00000347547.7

Conserved Domains (6) summary

smart00192
Location:85 → 117

LDLa; Low-density lipoprotein receptor domain class A

smart00135
Location:319 → 361

LY; Low-density lipoprotein-receptor YWTD domain

smart00179
Location:206 → 236

EGF_CA; Calcium-binding EGF-like domain

cd00112
Location:47 → 81

LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

pfam00058
Location:382 → 422

Ldl_recept_b; Low-density lipoprotein receptor repeat class B

pfam14670
Location:170 → 204

FXa_inhibition; Coagulation Factor Xa inhibitory site