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

Gene ID: 7804, updated on 13-Mar-2020

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
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

Genomic context

See LRP8 in Genome Data Viewer
Location:
1p32.3
Exon count:
22
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (53242364..53328070, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (53708036..53793821, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene carnitine palmitoyltransferase 2 Neighboring gene CXXC motif containing zinc binding protein Neighboring gene uncharacterized LOC100507564 Neighboring gene mago homolog, exon junction complex subunit Neighboring gene uncharacterized LOC105378728 Neighboring gene uncharacterized LOC105378726 Neighboring gene uncharacterized LOC105378731 Neighboring gene long intergenic non-protein coding RNA 1771 Neighboring gene uncharacterized LOC105378730

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Myocardial infarction 1
MedGen: C1832662 OMIM: 608446 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
apolipoprotein binding IC
Inferred by Curator
more info
PubMed 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
cargo receptor activity NAS
Non-traceable Author Statement
more info
PubMed 
high-density lipoprotein particle binding IEA
Inferred from Electronic Annotation
more info
 
kinesin binding IEA
Inferred from Electronic Annotation
more info
 
low-density lipoprotein particle receptor activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
reelin receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
transmembrane signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
very-low-density lipoprotein particle receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
ammon gyrus development ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to cholesterol IEA
Inferred from Electronic Annotation
more info
 
cellular response to growth factor stimulus IEA
Inferred from Electronic Annotation
more info
 
cerebral cortex development IEA
Inferred from Electronic Annotation
more info
 
cytokine-mediated signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
endocytosis IDA
Inferred from Direct Assay
more info
PubMed 
lipid metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
modulation of chemical synaptic transmission ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of CREB transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of dendrite development ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of dendritic spine morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of peptidyl-tyrosine phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein tyrosine kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
proteolysis NAS
Non-traceable Author Statement
more info
PubMed 
reelin-mediated signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of innate immune response ISS
Inferred from Sequence or Structural Similarity
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
retinoid metabolic process TAS
Traceable Author Statement
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
axon IEA
Inferred from Electronic Annotation
more info
 
caveola IDA
Inferred from Direct Assay
more info
PubMed 
dendrite IEA
Inferred from Electronic Annotation
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IC
Inferred by Curator
more info
PubMed 
membrane HDA PubMed 
microtubule associated complex IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
receptor complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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

  1. NG_011517.2 RefSeqGene

    Range
    5080..90786
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001018054.3NP_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/Swiss-Prot
    Q14114
    Related
    ENSP00000360509.2, ENST00000371454.6
    Conserved Domains (7) summary
    smart00192
    Location:85117
    LDLa; Low-density lipoprotein receptor domain class A
    smart00135
    Location:489531
    LY; Low-density lipoprotein-receptor YWTD domain
    smart00179
    Location:376406
    EGF_CA; Calcium-binding EGF-like domain
    cd00112
    Location:4781
    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:262294
    Ldl_recept_a; Low-density lipoprotein receptor domain class A
    pfam00058
    Location:552592
    Ldl_recept_b; Low-density lipoprotein receptor repeat class B
    pfam14670
    Location:340374
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  2. NM_004631.5NP_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
    Q14114
    Related
    ENSP00000303634.6, ENST00000306052.12
    Conserved Domains (7) summary
    smart00192
    Location:85117
    LDLa; Low-density lipoprotein receptor domain class A
    smart00135
    Location:489531
    LY; Low-density lipoprotein-receptor YWTD domain
    smart00179
    Location:376406
    EGF_CA; Calcium-binding EGF-like domain
    cd00112
    Location:4781
    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:262294
    Ldl_recept_a; Low-density lipoprotein receptor domain class A
    pfam00058
    Location:552592
    Ldl_recept_b; Low-density lipoprotein receptor repeat class B
    pfam14670
    Location:340374
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  3. NM_017522.5NP_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/Swiss-Prot
    Q14114
    Related
    ENSP00000346391.3, ENST00000354412.7
    Conserved Domains (7) summary
    smart00192
    Location:85117
    LDLa; Low-density lipoprotein receptor domain class A
    smart00135
    Location:360402
    LY; Low-density lipoprotein-receptor YWTD domain
    smart00179
    Location:247277
    EGF_CA; Calcium-binding EGF-like domain
    cd00112
    Location:4781
    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:169204
    Ldl_recept_a; Low-density lipoprotein receptor domain class A
    pfam00058
    Location:423463
    Ldl_recept_b; Low-density lipoprotein receptor repeat class B
    pfam14670
    Location:211245
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  4. NM_033300.4NP_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/Swiss-Prot
    Q14114
    Related
    ENSP00000334522.2, ENST00000347547.7
    Conserved Domains (6) summary
    smart00192
    Location:85117
    LDLa; Low-density lipoprotein receptor domain class A
    smart00135
    Location:319361
    LY; Low-density lipoprotein-receptor YWTD domain
    smart00179
    Location:206236
    EGF_CA; Calcium-binding EGF-like domain
    cd00112
    Location:4781
    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:382422
    Ldl_recept_b; Low-density lipoprotein receptor repeat class B
    pfam14670
    Location:170204
    FXa_inhibition; Coagulation Factor Xa inhibitory site

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    53242364..53328070 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017002266.2XP_016857755.1  low-density lipoprotein receptor-related protein 8 isoform X7

  2. XM_006710882.4XP_006710945.1  low-density lipoprotein receptor-related protein 8 isoform X5

    Conserved Domains (7) summary
    smart00192
    Location:85117
    LDLa; Low-density lipoprotein receptor domain class A
    smart00135
    Location:502544
    LY; Low-density lipoprotein-receptor YWTD domain
    smart00179
    Location:389419
    EGF_CA; Calcium-binding EGF-like domain
    cd00112
    Location:4781
    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:262294
    Ldl_recept_a; Low-density lipoprotein receptor domain class A
    pfam00058
    Location:565605
    Ldl_recept_b; Low-density lipoprotein receptor repeat class B
    pfam14670
    Location:353387
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  3. XM_017002265.1XP_016857754.1  low-density lipoprotein receptor-related protein 8 isoform X3

  4. XM_011542094.2XP_011540396.1  low-density lipoprotein receptor-related protein 8 isoform X2

    Conserved Domains (6) summary
    smart00192
    Location:85117
    LDLa; Low-density lipoprotein receptor domain class A
    smart00135
    Location:460502
    LY; Low-density lipoprotein-receptor YWTD domain
    cd00112
    Location:4781
    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:262294
    Ldl_recept_a; Low-density lipoprotein receptor domain class A
    pfam00058
    Location:523563
    Ldl_recept_b; Low-density lipoprotein receptor repeat class B
    pfam14670
    Location:353387
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  5. XM_006710881.4XP_006710944.1  low-density lipoprotein receptor-related protein 8 isoform X4

    Related
    ENSP00000499405.1, ENST00000667377.1
    Conserved Domains (7) summary
    smart00192
    Location:85117
    LDLa; Low-density lipoprotein receptor domain class A
    smart00135
    Location:502544
    LY; Low-density lipoprotein-receptor YWTD domain
    smart00179
    Location:389419
    EGF_CA; Calcium-binding EGF-like domain
    cd00112
    Location:4781
    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:262294
    Ldl_recept_a; Low-density lipoprotein receptor domain class A
    pfam00058
    Location:565605
    Ldl_recept_b; Low-density lipoprotein receptor repeat class B
    pfam14670
    Location:353387
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  6. XM_005271173.4XP_005271230.1  low-density lipoprotein receptor-related protein 8 isoform X1

    Related
    ENSP00000499273.1, ENST00000668448.1
    Conserved Domains (7) summary
    smart00192
    Location:85117
    LDLa; Low-density lipoprotein receptor domain class A
    smart00135
    Location:502544
    LY; Low-density lipoprotein-receptor YWTD domain
    smart00179
    Location:389419
    EGF_CA; Calcium-binding EGF-like domain
    cd00112
    Location:4781
    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:262294
    Ldl_recept_a; Low-density lipoprotein receptor domain class A
    pfam00058
    Location:565605
    Ldl_recept_b; Low-density lipoprotein receptor repeat class B
    pfam14670
    Location:353387
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  7. XM_011542095.2XP_011540397.1  low-density lipoprotein receptor-related protein 8 isoform X9

    Related
    ENSP00000499550.1, ENST00000658277.1
    Conserved Domains (7) summary
    smart00192
    Location:85117
    LDLa; Low-density lipoprotein receptor domain class A
    smart00135
    Location:330372
    LY; Low-density lipoprotein-receptor YWTD domain
    smart00179
    Location:217247
    EGF_CA; Calcium-binding EGF-like domain
    cd00112
    Location:4781
    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:126161
    Ldl_recept_a; Low-density lipoprotein receptor domain class A
    pfam00058
    Location:393433
    Ldl_recept_b; Low-density lipoprotein receptor repeat class B
    pfam14670
    Location:181215
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  8. XM_005271175.3XP_005271232.1  low-density lipoprotein receptor-related protein 8 isoform X8

    Related
    ENSP00000499355.1, ENST00000662198.1
    Conserved Domains (7) summary
    smart00192
    Location:85117
    LDLa; Low-density lipoprotein receptor domain class A
    smart00135
    Location:360402
    LY; Low-density lipoprotein-receptor YWTD domain
    smart00179
    Location:247277
    EGF_CA; Calcium-binding EGF-like domain
    cd00112
    Location:4781
    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:169204
    Ldl_recept_a; Low-density lipoprotein receptor domain class A
    pfam00058
    Location:423463
    Ldl_recept_b; Low-density lipoprotein receptor repeat class B
    pfam14670
    Location:211245
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  9. XM_005271174.3XP_005271231.1  low-density lipoprotein receptor-related protein 8 isoform X6

    Related
    ENSP00000437009.2, ENST00000465675.6
    Conserved Domains (7) summary
    smart00192
    Location:85117
    LDLa; Low-density lipoprotein receptor domain class A
    smart00135
    Location:373415
    LY; Low-density lipoprotein-receptor YWTD domain
    smart00179
    Location:260290
    EGF_CA; Calcium-binding EGF-like domain
    cd00112
    Location:4781
    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:169204
    Ldl_recept_a; Low-density lipoprotein receptor domain class A
    pfam00058
    Location:436476
    Ldl_recept_b; Low-density lipoprotein receptor repeat class B
    pfam14670
    Location:224258
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  10. XM_017002267.1XP_016857756.1  low-density lipoprotein receptor-related protein 8 isoform X11

    Related
    ENSP00000499708.1, ENST00000656486.1
  11. XM_017002268.1XP_016857757.1  low-density lipoprotein receptor-related protein 8 isoform X11

  12. XM_011542096.2XP_011540398.1  low-density lipoprotein receptor-related protein 8 isoform X10

    Related
    ENSP00000499697.1, ENST00000659993.1
    Conserved Domains (7) summary
    smart00192
    Location:85117
    LDLa; Low-density lipoprotein receptor domain class A
    smart00135
    Location:502544
    LY; Low-density lipoprotein-receptor YWTD domain
    smart00179
    Location:389419
    EGF_CA; Calcium-binding EGF-like domain
    cd00112
    Location:4781
    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:262294
    Ldl_recept_a; Low-density lipoprotein receptor domain class A
    pfam00058
    Location:565605
    Ldl_recept_b; Low-density lipoprotein receptor repeat class B
    pfam14670
    Location:353387
    FXa_inhibition; Coagulation Factor Xa inhibitory site
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