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

Gene ID: 3949, updated on 19-Oct-2014
Official Symbol
LDLRprovided by HGNC
Official Full Name
low density lipoprotein receptorprovided by HGNC
Primary source
HGNC:HGNC:6547
See related
Ensembl:ENSG00000130164; HPRD:06091; MIM:606945; Vega:OTTHUMG00000171935
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; LDLCQ2
Summary
The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol 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, Sep 2010]
See LDLR in Epigenomics, MapViewer
Location:
19p13.2
Exon count:
18
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 19 NC_000019.10 (11089362..11133830)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (11200037..11244506)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene chromosome 19 open reading frame 52 Neighboring gene SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 Neighboring gene microRNA 6886 Neighboring gene SPC24, NDC80 kinetochore complex component Neighboring gene KN motif and ankyrin repeat domains 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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 OMIM: 143890 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

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

  • Bile secretion, organism-specific biosystem (from KEGG)
    Bile secretion, organism-specific biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
  • Bile secretion, conserved biosystem (from KEGG)
    Bile secretion, conserved biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
  • Chylomicron-mediated lipid transport, organism-specific biosystem (from REACTOME)
    Chylomicron-mediated lipid transport, organism-specific biosystemChylomicrons transport triacylglycerol, phospholipid, and cholesterol derived from dietary lipid from the small intestine to other tissues of the body. Each chylomicron assembles around a single mole...
  • DNA damage response (only ATM dependent), organism-specific biosystem (from WikiPathways)
    DNA damage response (only ATM dependent), organism-specific biosystemThis is the second pathway out of two pathways which deals with DNA damage response. It has two central gene products (ATM and TP53) which are connected with the first DNA damage response pathway. In...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases associated with visual transduction, organism-specific biosystem (from REACTOME)
    Diseases associated with visual transduction, organism-specific biosystemThe process of vision involves two stages; the retinoid cycle which supplies and regenerates the visual chromophore required for vision and phototransduction which propagates the light signal. Defect...
  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Hepatitis C, organism-specific biosystem (from KEGG)
    Hepatitis C, organism-specific biosystemHepatitis C virus (HCV) is a major cause of chronic liver disease. The HCV employ several strategies to perturb host cell immunity. After invasion, HCV RNA genome functions directly as an mRNA in the...
  • Hepatitis C, conserved biosystem (from KEGG)
    Hepatitis C, conserved biosystemHepatitis C virus (HCV) is a major cause of chronic liver disease. The HCV employ several strategies to perturb host cell immunity. After invasion, HCV RNA genome functions directly as an mRNA in the...
  • LDL-mediated lipid transport, organism-specific biosystem (from REACTOME)
    LDL-mediated lipid transport, organism-specific biosystemLDL (low density lipoproteins) are complexes of a single molecule of apoprotein B-100 (apoB-100) non-covalently associated with triacylglycerol, free cholesterol, cholesterol esters, and phospholipid...
  • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
    Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
  • Lipoprotein metabolism, organism-specific biosystem (from REACTOME)
    Lipoprotein metabolism, organism-specific biosystemBecause of their hydrophobicity, lipids are found in the extracellular spaces of the human body primarily in the form of lipoprotein complexes. Chylomicrons form in the small intestine and transport ...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Oncostatin M Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Oncostatin M Signaling Pathway, organism-specific biosystemOncostatin M (OSM) is a member of the multifunctional cytokine interleukin 6 (IL6) - type cytokine family. It is mainly produced in cell types such as activated T lymphocytes, macrophages, monocytes,...
  • Ovarian steroidogenesis, organism-specific biosystem (from KEGG)
    Ovarian steroidogenesis, organism-specific biosystemThe ovarian steroids, 17-beta estradiol (E2) and progesterone (P4), are critical for normal uterine function, establishment and maintenance of pregnancy, and mammary gland development. Furthermore, t...
  • Ovarian steroidogenesis, conserved biosystem (from KEGG)
    Ovarian steroidogenesis, conserved biosystemThe ovarian steroids, 17-beta estradiol (E2) and progesterone (P4), are critical for normal uterine function, establishment and maintenance of pregnancy, and mammary gland development. Furthermore, t...
  • Retinoid metabolism and transport, organism-specific biosystem (from REACTOME)
    Retinoid metabolism and transport, organism-specific biosystemVitamin A (all-trans-retinol) must be taken up, either as carotenes from plants, or as retinyl esters from animal food. The most prominent carotenes are alpha-carotene, lycopene, lutein, beta-cryptox...
  • SREBF and miR33 in cholesterol and lipid homeostasis, organism-specific biosystem (from WikiPathways)
    SREBF and miR33 in cholesterol and lipid homeostasis, organism-specific biosystemThis pathway describes transcription factor-microRNA circuits governing cholesterol and lipid homeostasis. It is based on a seminar by Dr. Anders N??r.
  • SREBP signalling, organism-specific biosystem (from WikiPathways)
    SREBP signalling, organism-specific biosystemSterol regulatory element-binding proteins (SREBPs) are membrane-bound proteins that act as transcription factors. They regulate lipid, especially cholesterol, biosynthesis and uptake at a transcript...
  • Selenium Pathway, organism-specific biosystem (from WikiPathways)
    Selenium Pathway, organism-specific biosystem
    Selenium Pathway
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Statin Pathway, organism-specific biosystem (from WikiPathways)
    Statin Pathway, organism-specific biosystemStatins inhibit endogenous cholesterol production by competitive inhibition of HMG-CoA reductase (HMGCR), the enzyme that catalyzes conversion of HMG-CoA to mevalonate, an early rate-limiting step in...
  • Toxoplasmosis, organism-specific biosystem (from KEGG)
    Toxoplasmosis, organism-specific biosystemToxoplasma gondii is an obligate intracellular parasite that is prevalent worldwide. The tachyzoite form acquired by oral ingestion downmodulates proinflammatory signaling pathways via various mechan...
  • Toxoplasmosis, conserved biosystem (from KEGG)
    Toxoplasmosis, conserved biosystemToxoplasma gondii is an obligate intracellular parasite that is prevalent worldwide. The tachyzoite form acquired by oral ingestion downmodulates proinflammatory signaling pathways via various mechan...
  • Visual phototransduction, organism-specific biosystem (from REACTOME)
    Visual phototransduction, organism-specific biosystemVisual phototransduction is the process by which photon absorption by visual pigment molecules in photoreceptor cells is converted to an electrical cellular response. The events in this process are p...
  • Wnt Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Wnt Signaling Pathway, organism-specific biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...
  • Wnt Signaling Pathway and Pluripotency, organism-specific biosystem (from WikiPathways)
    Wnt Signaling Pathway and Pluripotency, organism-specific biosystemThis pathway was adapted from several resources and is designed to provide a theoretical frame-work for examining Wnt signaling and interacting components in the context of embryonic stem-cell plurip...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
glycoprotein binding IPI
Inferred from Physical Interaction
more info
PubMed 
low-density lipoprotein particle binding IEA
Inferred from Electronic Annotation
more info
 
low-density lipoprotein receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
very-low-density lipoprotein particle receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cholesterol homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cholesterol import ISS
Inferred from Sequence or Structural Similarity
more info
 
cholesterol metabolic process IEA
Inferred from Electronic Annotation
more info
 
cholesterol transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
endocytosis TAS
Traceable Author Statement
more info
PubMed 
intestinal cholesterol absorption IMP
Inferred from Mutant Phenotype
more info
PubMed 
lipid metabolic process TAS
Traceable Author Statement
more info
PubMed 
lipoprotein catabolic process IEA
Inferred from Electronic Annotation
more info
 
lipoprotein metabolic process TAS
Traceable Author Statement
more info
 
low-density lipoprotein particle clearance IMP
Inferred from Mutant Phenotype
more info
PubMed 
phospholipid transport ISS
Inferred from Sequence or Structural Similarity
more info
 
phototransduction, visible light TAS
Traceable Author Statement
more info
 
positive regulation of triglyceride biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
receptor-mediated endocytosis TAS
Traceable Author Statement
more info
 
regulation of cholesterol homeostasis IEA
Inferred from Electronic Annotation
more info
 
regulation of phosphatidylcholine catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
retinoid metabolic process TAS
Traceable Author Statement
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
clathrin-coated endocytic vesicle membrane TAS
Traceable Author Statement
more info
 
coated pit IDA
Inferred from Direct Assay
more info
PubMed 
early endosome IDA
Inferred from Direct Assay
more info
PubMed 
endosome membrane TAS
Traceable Author Statement
more info
 
external side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
late endosome IDA
Inferred from Direct Assay
more info
PubMed 
low-density lipoprotein particle IEA
Inferred from Electronic Annotation
more info
 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IDA
Inferred from Direct Assay
more info
 
Preferred Names
low-density lipoprotein receptor
Names
low-density lipoprotein receptor
LDL receptor
low-density lipoprotein receptor class A domain-containing protein 3

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_009060.1 

    Range
    4982..49450
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_274

mRNA and Protein(s)

  1. NM_000527.4NP_000518.1  low-density lipoprotein receptor isoform 1 precursor

    See proteins identical to 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/TrEMBL
    A0A024R7D5
    UniProtKB/Swiss-Prot
    P01130
    Related
    ENSP00000252444, OTTHUMP00000247211, ENST00000252444, OTTHUMT00000415974
    Conserved Domains (5) summary
    smart00135
    Location:553595
    LY; Low-density lipoprotein-receptor YWTD domain
    cd00054
    Location:354386
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00112
    Location:109143
    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:529569
    Ldl_recept_b; Low-density lipoprotein receptor repeat class B
    pfam14670
    Location:318346
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  2. NM_001195798.1NP_001182727.1  low-density lipoprotein receptor isoform 2 precursor

    See proteins identical to 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/Swiss-Prot
    P01130
    Conserved Domains (5) summary
    smart00135
    Location:553595
    LY; Low-density lipoprotein-receptor YWTD domain
    cd00054
    Location:354386
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00112
    Location:109143
    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:529569
    Ldl_recept_b; Low-density lipoprotein receptor repeat class B
    pfam14670
    Location:318346
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  3. NM_001195799.1NP_001182728.1  low-density lipoprotein receptor isoform 3 precursor

    See proteins identical to 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, DC306821
    Consensus CDS
    CCDS56085.1
    UniProtKB/Swiss-Prot
    P01130
    Conserved Domains (5) summary
    smart00135
    Location:512554
    LY; Low-density lipoprotein-receptor YWTD domain
    cd00054
    Location:313345
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00112
    Location:156190
    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:488528
    Ldl_recept_b; Low-density lipoprotein receptor repeat class B
    pfam14670
    Location:277305
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  4. NM_001195800.1NP_001182729.1  low-density lipoprotein receptor isoform 4 precursor

    See proteins identical to 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, DC306821
    Consensus CDS
    CCDS56084.1
    UniProtKB/Swiss-Prot
    P01130
    Conserved Domains (5) summary
    smart00135
    Location:385427
    LY; Low-density lipoprotein-receptor YWTD domain
    cd00054
    Location:186218
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00112
    Location:2758
    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:361401
    Ldl_recept_b; Low-density lipoprotein receptor repeat class B
    pfam14670
    Location:150178
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  5. NM_001195803.1NP_001182732.1  low-density lipoprotein receptor isoform 6 precursor

    See proteins identical to 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, DC306821
    Consensus CDS
    CCDS56083.1
    UniProtKB/Swiss-Prot
    P01130
    Conserved Domains (5) summary
    smart00135
    Location:426468
    LY; Low-density lipoprotein-receptor YWTD domain
    cd00054
    Location:227259
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00112
    Location:109143
    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:402442
    Ldl_recept_b; Low-density lipoprotein receptor repeat class B
    pfam14670
    Location:191219
    FXa_inhibition; Coagulation Factor Xa inhibitory site

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000019.10 

    Range
    11089362..11133830
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_244074.1 RNA Sequence

Alternate HuRef

Genomic

  1. AC_000151.1 

    Range
    10777128..10820847
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 

    Range
    11201264..11245760
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. 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.