OLR1 oxidized low density lipoprotein receptor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: OLR1provided by HGNC
Official Full Name: oxidized low density lipoprotein receptor 1provided by HGNC
Primary source: HGNC:HGNC:8133
See related: Ensembl:ENSG00000173391 MIM:602601; AllianceGenome:HGNC:8133
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: LOX1; LOXIN; SLOX1; CLEC8A; SCARE1
Summary: This gene encodes a low density lipoprotein receptor that belongs to the C-type lectin superfamily. This gene is regulated through the cyclic AMP signaling pathway. The encoded protein binds, internalizes and degrades oxidized low-density lipoprotein. This protein may be involved in the regulation of Fas-induced apoptosis. This protein may play a role as a scavenger receptor. Mutations of this gene have been associated with atherosclerosis, risk of myocardial infarction, and may modify the risk of Alzheimer's disease. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]
Expression: Biased expression in placenta (RPKM 50.3), lung (RPKM 32.5) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12p13.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (10158301..10176266, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (10045018..10062993, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (10310900..10324731, complement)

Chromosome 12 - NC_000012.12 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?

Associations of CKIP-1 and LOX-1 polymorphisms with the risk of type 2 diabetes mellitus with hypertension among Chinese adults.
Title: Associations of CKIP-1 and LOX-1 polymorphisms with the risk of type 2 diabetes mellitus with hypertension among Chinese adults.
Associations of Tissue and Soluble LOX-1 with Human Abdominal Aortic Aneurysm.
Title: Associations of Tissue and Soluble LOX-1 with Human Abdominal Aortic Aneurysm.
TM6SF2 reduces lipid accumulation in vascular smooth muscle cells by inhibiting LOX-1 and CD36 expression.
Title: TM6SF2 reduces lipid accumulation in vascular smooth muscle cells by inhibiting LOX-1 and CD36 expression.
Expression of OLR1 gene on tumor-associated macrophages of head and neck squamous cell carcinoma, and its correlation with clinical outcome.
Title: Expression of OLR1 gene on tumor-associated macrophages of head and neck squamous cell carcinoma, and its correlation with clinical outcome.
Up-regulation of oxidized low-density lipoprotein receptor 1 correlates with decreased miR-106b-5p, miR-93-5p, miR-3129-5p, miR-199b-3p, and miR-4465, higher recurrence rate, and poor prognosis in ovarian cancer.
Title: Up-regulation of oxidized low-density lipoprotein receptor 1 correlates with decreased miR-106b-5p, miR-93-5p, miR-3129-5p, miR-199b-3p, and miR-4465, higher recurrence rate, and poor prognosis in ovarian cancer.
Plasma soluble lectin-like oxidized low-density lipoprotein receptor-1 acts as a new biomarker for NSTEMI and STEMI patients.
Title: Plasma soluble lectin-like oxidized low-density lipoprotein receptor-1 acts as a new biomarker for NSTEMI and STEMI patients.
Genetic variations in OLR1 gene associated with PCOS and atherosclerotic risk factors.
Title: Genetic variations in OLR1 gene associated with PCOS and atherosclerotic risk factors.
miR-186-5p Dysregulation in Serum Exosomes from Patients with AMI Aggravates Atherosclerosis via Targeting LOX-1.
Title: miR-186-5p Dysregulation in Serum Exosomes from Patients with AMI Aggravates Atherosclerosis via Targeting LOX-1.
Targeting lectin-like oxidized low-density lipoprotein receptor-1 triggers autophagic program in esophageal cancer.
Title: Targeting lectin-like oxidized low-density lipoprotein receptor-1 triggers autophagic program in esophageal cancer.
Expression of Serum sLOX-1 in Patients with Non-Small-Cell Lung Cancer and Its Correlation with Lipid Metabolism.
Title: Expression of Serum sLOX-1 in Patients with Non-Small-Cell Lung Cancer and Its Correlation with Lipid Metabolism.

Submit: New GeneRIF Correction See all GeneRIFs (282)

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

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

D12S1696 (e-PCR), detects polymorphism
- UniSTS:57125

STS-N51624 (e-PCR)
- UniSTS:27480

RH68316 (e-PCR)
- UniSTS:81029

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables carbohydrate binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables low-density lipoprotein particle receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in blood circulation	TAS Traceable Author Statement more info	PubMed
involved_in immune system process	IEA Inferred from Electronic Annotation more info
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in leukocyte cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipoprotein metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	TAS Traceable Author Statement more info	PubMed
involved_in vesicle-mediated transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in membrane raft	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed
located_in specific granule membrane	TAS Traceable Author Statement more info
located_in tertiary granule membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: oxidized low-density lipoprotein receptor 1

Names: C-type lectin domain family 8 member A; hLOX-1; lectin-type oxidized LDL receptor 1; ox LDL receptor 1; oxidized low density lipoprotein (lectin-like) receptor 1; oxidized low-density lipoprotein receptor 1, soluble form; scavenger receptor class E, member 1

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_016743.2 RefSeqGene

Range

9134..22965

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001172632.2 → NP_001166103.1 oxidized low-density lipoprotein receptor 1 isoform 2

See identical proteins and their annotated locations for NP_001166103.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC024224

Consensus CDS

CCDS53745.1

UniProtKB/TrEMBL

F5GZH1

Related

ENSP00000405116.2, ENST00000432556.6

Conserved Domains (2) summary

pfam08391
Location:35 → 79

Ly49; Ly49-like protein, N-terminal region

pfam13094
Location:60 → 125

CENP-Q; CENP-Q, a CENPA-CAD centromere complex subunit
NM_001172633.2 → NP_001166104.1 oxidized low-density lipoprotein receptor 1 isoform 3

See identical proteins and their annotated locations for NP_001166104.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC024224

Consensus CDS

CCDS53746.1

UniProtKB/Swiss-Prot

P78380

Related

ENSP00000439251.1, ENST00000545927.5

Conserved Domains (2) summary

pfam08391
Location:35 → 158

Ly49; Ly49-like protein, N-terminal region

cl02432
Location:144 → 188

CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
NM_002543.4 → NP_002534.1 oxidized low-density lipoprotein receptor 1 isoform 1

See identical proteins and their annotated locations for NP_002534.1

Status: REVIEWED

Description

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

Source sequence(s)

AC024224

Consensus CDS

CCDS8618.1

UniProtKB/Swiss-Prot

A8K7V9, B4DI48, G3V1I4, P78380, Q2PP00, Q7Z484

Related

ENSP00000309124.3, ENST00000309539.8

Conserved Domains (2) summary

cd03593
Location:144 → 266

CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)

cl25732
Location:73 → 137

SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

10158301..10176266 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047428907.1 → XP_047284863.1 oxidized low-density lipoprotein receptor 1 isoform X1

UniProtKB/Swiss-Prot

A8K7V9, B4DI48, G3V1I4, P78380, Q2PP00, Q7Z484
XM_047428909.1 → XP_047284865.1 oxidized low-density lipoprotein receptor 1 isoform X3

Related

ENSP00000442389.1, ENST00000539518.5
XM_047428908.1 → XP_047284864.1 oxidized low-density lipoprotein receptor 1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

10045018..10062993 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054372134.1 → XP_054228109.1 oxidized low-density lipoprotein receptor 1 isoform X1
XM_054372136.1 → XP_054228111.1 oxidized low-density lipoprotein receptor 1 isoform X3
XM_054372135.1 → XP_054228110.1 oxidized low-density lipoprotein receptor 1 isoform X2