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LDLRAD3 low density lipoprotein receptor class A domain containing 3 [ Homo sapiens (human) ]

Gene ID: 143458, updated on 21-Mar-2023

Summary

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Official Symbol
LDLRAD3provided by HGNC
Official Full Name
low density lipoprotein receptor class A domain containing 3provided by HGNC
Primary source
HGNC:HGNC:27046
See related
Ensembl:ENSG00000179241 MIM:617986; AllianceGenome:HGNC:27046
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LRAD3
Summary
Predicted to enable amyloid-beta binding activity. Predicted to act upstream of or within receptor-mediated endocytosis and regulation of protein processing. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 8.5), prostate (RPKM 7.2) and 25 other tissues See more
Orthologs
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Genomic context

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See LDLRAD3 in Genome Data Viewer
Location:
11p13
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (35944062..36232136)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (36082756..36371759)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (35965612..36253686)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902661 Neighboring gene keratin 18 pseudogene 14 Neighboring gene WEE2 pseudogene 1 Neighboring gene ribosomal protein L12 pseudogene 31 Neighboring gene Sharpr-MPRA regulatory region 260 Neighboring gene microRNA 3973 Neighboring gene uncharacterized LOC101928510 Neighboring gene COMM domain containing 9 Neighboring gene proline rich 5 like Neighboring gene Sharpr-MPRA regulatory region 14138

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Structure of Venezuelan equine encephalitis virus with its receptor LDLRAD3. Ma B, et al. Nature, 2021 Oct. PMID 34646021
  2. Structure of Venezuelan equine encephalitis virus in complex with the LDLRAD3 receptor. Basore K, et al. Nature, 2021 Oct. PMID 34646020, Free PMC Article
  3. Downregulation of circular RNA circ-LDLRAD3 suppresses pancreatic cancer progression through miR-137-3p/PTN axis. Yao J, et al. Life Sci, 2019 Dec 15. PMID 31521692
  4. Circular RNA circ-LDLRAD3 as a biomarker in diagnosis of pancreatic cancer. Yang F, et al. World J Gastroenterol, 2017 Dec 21. PMID 29307994, Free PMC Article
  5. Circ-LDLRAD3 Enhances Cell Growth, Migration, and Invasion and Inhibits Apoptosis by Regulating MiR-224-5p/NRP2 Axis in Gastric Cancer. Wang Y, et al. Dig Dis Sci, 2021 Nov. PMID 33389349

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Structure of Venezuelan equine encephalitis virus with its receptor LDLRAD3.
    Title: Structure of Venezuelan equine encephalitis virus with its receptor LDLRAD3.
  2. Structure of Venezuelan equine encephalitis virus in complex with the LDLRAD3 receptor.
    Title: Structure of Venezuelan equine encephalitis virus in complex with the LDLRAD3 receptor.
  3. Circ-LDLRAD3 Enhances Cell Growth, Migration, and Invasion and Inhibits Apoptosis by Regulating MiR-224-5p/NRP2 Axis in Gastric Cancer.
    Title: Circ-LDLRAD3 Enhances Cell Growth, Migration, and Invasion and Inhibits Apoptosis by Regulating MiR-224-5p/NRP2 Axis in Gastric Cancer.
  4. Circular RNA circ-LDLRAD3 serves as an oncogene to promote non-small cell lung cancer progression by upregulating SLC1A5 through sponging miR-137.
    Title: Circular RNA circ-LDLRAD3 serves as an oncogene to promote non-small cell lung cancer progression by upregulating SLC1A5 through sponging miR-137.
  5. LDLRAD3 is a receptor for Venezuelan equine encephalitis virus.
    Title: LDLRAD3 is a receptor for Venezuelan equine encephalitis virus.
  6. Increased expression of circ-LDLRAD3 was indicative of a poor prognosis in patients with pancreatic cancer. Knockdown of circ-LDLRAD3 repressed the growth of pancreatic cancer in vitro and in vivo. miR-137-3p was identified as a direct target of circ-LDLRAD3. Upregulation of circ-LDLRAD3 could mitigate the inhibitory effect of miR-137-3p on the proliferation, migration and invasion of pancreatic cancer tissue and cells.
    Title: Downregulation of circular RNA circ-LDLRAD3 suppresses pancreatic cancer progression through miR-137-3p/PTN axis.
  7. Data suggest that circular RNA circ-LDLRAD3 may be a biomarker in the diagnosis of pancreatic cancer.
    Title: Circular RNA circ-LDLRAD3 as a biomarker in diagnosis of pancreatic cancer.
  8. LRAD3 is a component of pathways that function effectively to modulate Itch and Nedd4 auto-ubiquitination and levels.
    Title: Regulation of Itch and Nedd4 E3 Ligase Activity and Degradation by LRAD3.
  9. LRAD3 that modulates amyloid precursor protein trafficking.
    Title: LRAD3, a novel low-density lipoprotein receptor family member that modulates amyloid precursor protein trafficking.
  10. Observational study of gene-disease association. (HuGE Navigator)
    Title: Analysis of 9p24 and 11p12-13 regions in autism spectrum disorders: rs1340513 in the JMJD2C gene is associated with ASDs in Finnish sample.
Submit: New GeneRIF Correction See all GeneRIFs (11)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: PRR5L

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables amyloid-beta binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in receptor-mediated endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in regulation of protein processing IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 

General protein information

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Preferred Names
low-density lipoprotein receptor class A domain-containing protein 3
Names
LDLR class A domain-containing protein 3

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.

mRNA and Protein(s)

  1. NM_001304263.2 → NP_001291192.1  low-density lipoprotein receptor class A domain-containing protein 3 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001291192.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. It encodes isoform 2 which is shorter and contains an alternate internal amino acid compared to isoform 1.
    Source sequence(s)
    AK075546, BC042754, BC143824, BY997532, CK904050
    Consensus CDS
    CCDS76394.1
    UniProtKB/Swiss-Prot
    Q86YD5
    Related
    ENSP00000433954.1, ENST00000528989.5
    Conserved Domains (1) summary
    cd00112
    Location:22 → 57
    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 ...

  2. NM_001304264.2 → NP_001291193.1  low-density lipoprotein receptor class A domain-containing protein 3 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon in the 5' region and contains an alternate exon in the central region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in isoform (3) with is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK075546, BC042754, BC143823, BY997532, CK904050
    UniProtKB/Swiss-Prot
    Q86YD5

  3. NM_174902.4 → NP_777562.1  low-density lipoprotein receptor class A domain-containing protein 3 precursor

    See identical proteins and their annotated locations for NP_777562.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK075546, BC042754, BC136286, BY997532, CK904050
    Consensus CDS
    CCDS31462.1
    UniProtKB/Swiss-Prot
    Q86YD5, Q8NBJ0
    Related
    ENSP00000318607.5, ENST00000315571.6
    Conserved Domains (1) summary
    cd00112
    Location:32 → 64
    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 ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    35944062..36232136
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    36082756..36371759
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86YD5.3 GenPept UniProtKB/Swiss-Prot:Q86YD5

Gene LinkOut

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