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

Summary

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 be involved in receptor-mediated endocytosis. Predicted to act upstream of or within regulation of protein processing. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in brain (RPKM 8.5), prostate (RPKM 7.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p13

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (35944062..36232136)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (36082756..36371759)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (35965612..36253686)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Circ-LDLRAD3/miR-655-3p/MAPK1 axis enhances cell migration and invasion in papillary thyroid carcinoma.
Title: Circ-LDLRAD3/miR-655-3p/MAPK1 axis enhances cell migration and invasion in papillary thyroid carcinoma.
circ-LDLRAD3 Knockdown Reduces Cisplatin Chemoresistance and Inhibits the Development of Gastric Cancer with Cisplatin Resistance through miR-588 Enrichment-Mediated SOX5 Inhibition.
Title: circ-LDLRAD3 Knockdown Reduces Cisplatin Chemoresistance and Inhibits the Development of Gastric Cancer with Cisplatin Resistance through miR-588 Enrichment-Mediated SOX5 Inhibition.
Structure of Venezuelan equine encephalitis virus with its receptor LDLRAD3.
Title: Structure of Venezuelan equine encephalitis virus with its receptor LDLRAD3.
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.
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.
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.
LDLRAD3 is a receptor for Venezuelan equine encephalitis virus.
Title: LDLRAD3 is a receptor for Venezuelan equine encephalitis virus.
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.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S935 (e-PCR), detects polymorphism
- UniSTS:61711

D11S4185 (e-PCR), detects polymorphism
- UniSTS:16440

D11S935 (e-PCR), detects polymorphism
- UniSTS:90458

RH123406 (e-PCR)
- UniSTS:135781

SHGC-154579 (e-PCR)
- UniSTS:182437

D11S4419 (e-PCR)
- UniSTS:78502

SHGC-154746 (e-PCR)
- UniSTS:182440

SHGC-110963 (e-PCR)
- UniSTS:168110

SHGC-142418 (e-PCR)
- UniSTS:171446

RH45480 (e-PCR)
- UniSTS:55234

SHGC-152853 (e-PCR)
- UniSTS:177612

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
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

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)

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/TrEMBL

E9PR86

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 ...
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
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

B7Z1U3, B9EG81, 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 ...