LDLR low density lipoprotein receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: LDLRprovided by HGNC
Official Full Name: low density lipoprotein receptorprovided by HGNC
Primary source: HGNC:HGNC:6547
See related: Ensembl:ENSG00000130164 MIM:606945; AllianceGenome:HGNC:6547
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: FH; FHC; FHCL1; LDLCQ2
Summary: The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. The encoded protein is normally bound at the cell membrane, where it binds low density lipoprotein/cholesterol and is taken into the cell. Lysosomes release the cholesterol, which is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2022]
Expression: Ubiquitous expression in adrenal (RPKM 29.0), lung (RPKM 28.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.2

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (11089463..11133820)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (11216460..11260830)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (11200139..11244496)

Chromosome 19 - NC_000019.10 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 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?

Association between Apo B, LDL-R and PCSK9 gene polymorphisms with coronary artery diseases in Egyptians.
Title: Association between Apo B, LDL-R and PCSK9 gene polymorphisms with coronary artery diseases in Egyptians.
Insights into PCSK9-LDLR Regulation and Trafficking via the Differential Functions of MHC-I Proteins HFE and HLA-C.
Title: Insights into PCSK9-LDLR Regulation and Trafficking via the Differential Functions of MHC-I Proteins HFE and HLA-C.
Methylation status of LDLR, PCSK9 and LDLRAP1 is associated with cardiovascular events in familial hypercholesterolemia.
Title: Methylation status of LDLR, PCSK9 and LDLRAP1 is associated with cardiovascular events in familial hypercholesterolemia.
Phenotypic characterization and predictive analysis of p.Asp47Asn LDL receptor mutation associated with Familial Hypercholesterolemia in a Chilean population.
Title: Phenotypic characterization and predictive analysis of p.Asp47Asn LDL receptor mutation associated with Familial Hypercholesterolemia in a Chilean population.
LDLR c.89_92dup: a novel frameshift variation in familial hypercholesterolemia.
Title: LDLR c.89_92dup: a novel frameshift variation in familial hypercholesterolemia.
Impact of LDLR polymorphisms on lipid levels and atorvastatin's efficacy in a northern Chinese adult Han cohort with dyslipidemia.
Title: Impact of LDLR polymorphisms on lipid levels and atorvastatin's efficacy in a northern Chinese adult Han cohort with dyslipidemia.
High Prevalence of Familial Hypercholesterolemia Due to the Founder Effect of the LDLR c.2271del Variant in Communities of Oaxaca, Mexico.
Title: High Prevalence of Familial Hypercholesterolemia Due to the Founder Effect of the LDLR c.2271del Variant in Communities of Oaxaca, Mexico.
Identification of a novel LDLR p.Glu179Met variant in Thai families with familial hypercholesterolemia and response to treatment with PCSK9 inhibitor.
Title: Identification of a novel LDLR p.Glu179Met variant in Thai families with familial hypercholesterolemia and response to treatment with PCSK9 inhibitor.
A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE-1 insertion in LDLR.
Title: A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE-1 insertion in LDLR.
Novel LDLR variants affecting low density lipoprotein metabolism identified in familial hypercholesterolemia.
Title: Novel LDLR variants affecting low density lipoprotein metabolism identified in familial hypercholesterolemia.

Submit: New GeneRIF Correction See all GeneRIFs (563)

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

Professional guidelines

Description
Professional guideline ACMG 2013 The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in LDLR that are pathogenic or expected to be pathogenic. GuidelinePubMed

Associated conditions

Description	Tests
Familial hypercholesterolemia MedGen: C0020445 GeneReviews: Familial Hypercholesterolemia	not available
Hypercholesterolemia, familial, 1 MedGen: C0745103 OMIM: 143890 GeneReviews: Familial Hypercholesterolemia	not available

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2021-10-27) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-10-27) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
A variant in LDLR is associated with abdominal aortic aneurysm. EBI GWAS Catalog EBI GWAS CatalogPubMed
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants at 30 loci contribute to polygenic dyslipidemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Eight genetic loci associated with variation in lipoprotein-associated phospholipase A2 mass and activity and coronary heart disease: meta-analysis of genome-wide association studies from five community-based studies. EBI GWAS Catalog EBI GWAS CatalogPubMed
Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants influencing circulating lipid levels and risk of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies multiple loci influencing human serum metabolite levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque. EBI GWAS Catalog EBI GWAS CatalogPubMed
Newly identified loci that influence lipid concentrations and risk of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. EBI GWAS Catalog EBI GWAS CatalogPubMed
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 is identified to have a physical interaction with low density lipoprotein receptor (LDLR) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 is identified to have a physical interaction with low density lipoprotein receptor (LDLR) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed
Nef	nef	HIV-1 Nef expression in Jurkat cells upregulates LDLR, which is involved in cholesterol uptake	PubMed
Vif	vif	HIV-1 Vif upregulates the expression of low density lipoprotein receptor (LDLR) in Vif-expression T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D19S584 (e-PCR)
- UniSTS:16642

D11S2921 (e-PCR)
- UniSTS:152074

GDB:434012 (e-PCR)
- UniSTS:157204

RH66831 (e-PCR)
- UniSTS:2842

GDB:185228 (e-PCR)
- UniSTS:155436

PMC156606P3 (e-PCR)
- UniSTS:271410

D8S2278 (e-PCR)
- UniSTS:473906

PMC156606P4 (e-PCR)
- UniSTS:271411

D8S2279 (e-PCR)
- UniSTS:473907

GDB:186840 (e-PCR)
- UniSTS:155509

GDB:178396 (e-PCR)
- UniSTS:155005

STS-M28219 (e-PCR)
- UniSTS:7294

D19S1126 (e-PCR)
- UniSTS:59528

D11S3114 (e-PCR)
- UniSTS:152207

GDB:181559 (e-PCR)
- UniSTS:155285

G44338 (e-PCR)
- UniSTS:95125

GDB:597677 (e-PCR)
- UniSTS:158106

GDB:187708 (e-PCR)
- UniSTS:155567

GDB:181630 (e-PCR)
- UniSTS:155317

G60299 (e-PCR)
- UniSTS:137404

GDB:371455 (e-PCR)
- UniSTS:156863

GDB:626790 (e-PCR)
- UniSTS:158400

GDB:177082 (e-PCR)
- UniSTS:154829

GDB:631903 (e-PCR)
- UniSTS:158440

GDB:631909 (e-PCR)
- UniSTS:158441

PMC137182P7 (e-PCR)
- UniSTS:270828

PMC137182P8 (e-PCR)
- UniSTS:270829

PMC311069P3 (e-PCR)
- UniSTS:272884

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables amyloid-beta binding	ISS Inferred from Sequence or Structural Similarity more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables clathrin heavy chain binding	TAS Traceable Author Statement more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables lipoprotein particle binding	IBA Inferred from Biological aspect of Ancestor more info
enables low-density lipoprotein particle binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables low-density lipoprotein particle receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables low-density lipoprotein particle receptor activity	IC Inferred by Curator more info	PubMed
enables low-density lipoprotein particle receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables low-density lipoprotein particle receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables low-density lipoprotein particle receptor activity	TAS Traceable Author Statement more info	PubMed
enables molecular adaptor activity	EXP Inferred from Experiment more info	PubMed
enables protease binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables very-low-density lipoprotein particle receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables virus receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in amyloid-beta clearance	ISS Inferred from Sequence or Structural Similarity more info
involved_in amyloid-beta clearance by cellular catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in artery morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cellular response to fatty acid	IEA Inferred from Electronic Annotation more info
involved_in cellular response to low-density lipoprotein particle stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cholesterol homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol homeostasis	TAS Traceable Author Statement more info	PubMed
involved_in cholesterol import	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol import	ISS Inferred from Sequence or Structural Similarity more info
involved_in cholesterol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in cholesterol transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol transport	TAS Traceable Author Statement more info	PubMed
involved_in endocytosis	TAS Traceable Author Statement more info	PubMed
involved_in high-density lipoprotein particle clearance	IEA Inferred from Electronic Annotation more info
involved_in intestinal cholesterol absorption	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in lipoprotein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in long-term memory	IGI Inferred from Genetic Interaction more info	PubMed
involved_in low-density lipoprotein particle clearance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of amyloid fibril formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of astrocyte activation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of low-density lipoprotein particle clearance	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of microglial cell activation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of protein metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of receptor recycling	IDA Inferred from Direct Assay more info	PubMed
involved_in phagocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in phospholipid transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in plasma lipoprotein particle clearance	ISS Inferred from Sequence or Structural Similarity more info
involved_in plasma lipoprotein particle clearance	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of lysosomal protein catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of triglyceride biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in receptor-mediated endocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in receptor-mediated endocytosis	TAS Traceable Author Statement more info	PubMed
involved_in receptor-mediated endocytosis involved in cholesterol transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in receptor-mediated endocytosis involved in cholesterol transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cholesterol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of phosphatidylcholine catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of protein metabolic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in response to caloric restriction	IGI Inferred from Genetic Interaction more info	PubMed
involved_in symbiont entry into host cell	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
part_of PCSK9-LDLR complex	IDA Inferred from Direct Assay more info	PubMed
part_of PCSK9-LDLR complex	IPI Inferred from Physical Interaction more info	PubMed
located_in apical part of cell	ISS Inferred from Sequence or Structural Similarity more info
located_in basolateral plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	ISS Inferred from Sequence or Structural Similarity more info
located_in clathrin-coated endocytic vesicle membrane	TAS Traceable Author Statement more info
located_in clathrin-coated pit	IDA Inferred from Direct Assay more info	PubMed
is_active_in early endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
located_in endolysosome membrane	TAS Traceable Author Statement more info
located_in endosome membrane	TAS Traceable Author Statement more info
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in late endosome	IDA Inferred from Direct Assay more info	PubMed
part_of low-density lipoprotein particle	IEA Inferred from Electronic Annotation more info
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed
located_in somatodendritic compartment	IEA Inferred from Electronic Annotation more info
located_in sorting endosome	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: low-density lipoprotein receptor

Names: LDL receptor; low-density lipoprotein receptor class A domain-containing protein 3

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

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_009060.1 RefSeqGene

Range

4982..49450

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_274

mRNA and Protein(s)

NM_000527.5 → NP_000518.1 low-density lipoprotein receptor isoform 1 precursor

See identical proteins and their annotated locations for NP_000518.1

Status: REVIEWED

Description

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

Source sequence(s)

AC011485, AY114155, BM785950, DC306821

Consensus CDS

CCDS12254.1

UniProtKB/Swiss-Prot

B4DII3, B4DJZ8, B4DR00, B4DTQ3, C0JYY8, H0YLU8, H0YNT7, P01130, Q53ZD9, Q59FQ1, Q9UDH7

UniProtKB/TrEMBL

Q9UH51

Related

ENSP00000454071.1, ENST00000558518.6

Conserved Domains (5) summary

smart00135
Location:553 → 595

LY; Low-density lipoprotein-receptor YWTD domain

smart00179
Location:354 → 388

EGF_CA; Calcium-binding EGF-like domain

pfam00057
Location:195 → 231

Ldl_recept_a; Low-density lipoprotein receptor domain class A

pfam00058
Location:529 → 569

Ldl_recept_b; Low-density lipoprotein receptor repeat class B

pfam14670
Location:318 → 346

FXa_inhibition; Coagulation Factor Xa inhibitory site
NM_001195798.2 → NP_001182727.1 low-density lipoprotein receptor isoform 2 precursor

See identical proteins and their annotated locations for NP_001182727.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AB209409, AC011485, BM785950, DC306821

Consensus CDS

CCDS58651.1

UniProtKB/TrEMBL

Q9UH51

Related

ENSP00000453346.1, ENST00000558013.5

Conserved Domains (5) summary

smart00135
Location:553 → 595

LY; Low-density lipoprotein-receptor YWTD domain

smart00179
Location:354 → 388

EGF_CA; Calcium-binding EGF-like domain

pfam00057
Location:195 → 231

Ldl_recept_a; Low-density lipoprotein receptor domain class A

pfam00058
Location:529 → 569

Ldl_recept_b; Low-density lipoprotein receptor repeat class B

pfam14670
Location:318 → 346

FXa_inhibition; Coagulation Factor Xa inhibitory site
NM_001195799.2 → NP_001182728.1 low-density lipoprotein receptor isoform 3 precursor

See identical proteins and their annotated locations for NP_001182728.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.

Source sequence(s)

AC011485, AK300313, BM785950

Consensus CDS

CCDS56085.1

UniProtKB/TrEMBL

Q9UH51

Related

ENSP00000440520.1, ENST00000535915.5

Conserved Domains (5) summary

smart00135
Location:512 → 554

LY; Low-density lipoprotein-receptor YWTD domain

smart00179
Location:313 → 347

EGF_CA; Calcium-binding EGF-like domain

pfam00057
Location:154 → 190

Ldl_recept_a; Low-density lipoprotein receptor domain class A

pfam00058
Location:488 → 528

Ldl_recept_b; Low-density lipoprotein receptor repeat class B

pfam14670
Location:277 → 305

FXa_inhibition; Coagulation Factor Xa inhibitory site
NM_001195800.2 → NP_001182729.1 low-density lipoprotein receptor isoform 4 precursor

See identical proteins and their annotated locations for NP_001182729.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks two alternate in-frame exons in the 5' coding region, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.

Source sequence(s)

AC011485, AK299038, BM785950

Consensus CDS

CCDS56084.1

UniProtKB/TrEMBL

A0AAQ5BHB8

Related

ENSP00000397829.2, ENST00000455727.6

Conserved Domains (5) summary

smart00135
Location:385 → 427

LY; Low-density lipoprotein-receptor YWTD domain

smart00179
Location:186 → 220

EGF_CA; Calcium-binding EGF-like domain

pfam00057
Location:25 → 58

Ldl_recept_a; Low-density lipoprotein receptor domain class A

pfam00058
Location:361 → 401

Ldl_recept_b; Low-density lipoprotein receptor repeat class B

pfam14670
Location:150 → 178

FXa_inhibition; Coagulation Factor Xa inhibitory site
NM_001195803.2 → NP_001182732.1 low-density lipoprotein receptor isoform 6 precursor

See identical proteins and their annotated locations for NP_001182732.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks an alternate in-frame exon in both the 5' and 3' coding regions, compared to variant 1. The encoded isoform (6) is shorter than isoform 1.

Source sequence(s)

AC011485, AK296312, BM785950

Consensus CDS

CCDS56083.1

UniProtKB/TrEMBL

A0AAQ5BHB8

Related

ENSP00000437639.1, ENST00000545707.5

Conserved Domains (5) summary

smart00135
Location:426 → 468

LY; Low-density lipoprotein-receptor YWTD domain

smart00179
Location:227 → 261

EGF_CA; Calcium-binding EGF-like domain

pfam00057
Location:25 → 58

Ldl_recept_a; Low-density lipoprotein receptor domain class A

pfam00058
Location:402 → 442

Ldl_recept_b; Low-density lipoprotein receptor repeat class B

pfam14670
Location:191 → 219

FXa_inhibition; Coagulation Factor Xa inhibitory site
NM_001406861.1 → NP_001393790.1 low-density lipoprotein receptor isoform 7

Status: REVIEWED

Source sequence(s)

AC011485

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

11089463..11133820

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011528010.3 → XP_011526312.1 low-density lipoprotein receptor isoform X1

UniProtKB/TrEMBL

Q9UH51

Conserved Domains (6) summary

smart00135
Location:553 → 595

LY; Low-density lipoprotein-receptor YWTD domain

smart00179
Location:354 → 388

EGF_CA; Calcium-binding EGF-like domain

pfam00057
Location:195 → 231

Ldl_recept_a; Low-density lipoprotein receptor domain class A

pfam00058
Location:529 → 569

Ldl_recept_b; Low-density lipoprotein receptor repeat class B

pfam14670
Location:318 → 346

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00104
Location:278 → 308

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 ...
XM_047438831.1 → XP_047294787.1 low-density lipoprotein receptor isoform X2

UniProtKB/TrEMBL

H0YMQ3

Related

ENSP00000453696.2, ENST00000559340.2

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

11216460..11260830

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054321014.1 → XP_054176989.1 low-density lipoprotein receptor isoform X1
XM_054321015.1 → XP_054176990.1 low-density lipoprotein receptor isoform X2

UniProtKB/TrEMBL

H0YMQ3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001195802.1: Suppressed sequence

Description

NM_001195802.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.