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UniProtKB - O75096 (LRP4_HUMAN)

Entry version 180 (23 Feb 2022)
Sequence version 4 (24 Nov 2009)
Previous versions | rss
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Protein

Low-density lipoprotein receptor-related protein 4

Gene

LRP4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Mediates SOST-dependent inhibition of bone formation. Functions as a specific facilitator of SOST-mediated inhibition of Wnt signaling. Plays a key role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between motor neuron and skeletal muscle. Directly binds AGRIN and recruits it to the MUSK signaling complex. Mediates the AGRIN-induced phosphorylation of MUSK, the kinase of the complex. The activation of MUSK in myotubes induces the formation of NMJ by regulating different processes including the transcription of specific genes and the clustering of AChR in the postsynaptic membrane. Alternatively, may be involved in the negative regulation of the canonical Wnt signaling pathway, being able to antagonize the LRP6-mediated activation of this pathway. More generally, has been proposed to function as a cell surface endocytic receptor binding and internalizing extracellular ligands for degradation by lysosomes. May play an essential role in the process of digit differentiation (By similarity).

By similarity2 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein, Receptor
Biological processDifferentiation, Endocytosis, Wnt signaling pathway
LigandCalcium

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O75096

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-3000178, ECM proteoglycans

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		O75096

SIGNOR Signaling Network Open Resource

More...SIGNORi		O75096

Protein family/group databases

Transport Classification Database

More...TCDBi		9.B.87.1.24, the selenoprotein p receptor (selp-receptor) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Low-density lipoprotein receptor-related protein 4
Short name:
LRP-4
Alternative name(s):
Multiple epidermal growth factor-like domains 7
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:LRP4
Synonyms:KIAA0816, LRP10, MEGF7
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:6696, LRP4

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		604270, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O75096

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000134569

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini21 – 1725ExtracellularSequence analysisAdd BLAST1705
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei1726 – 1746HelicalSequence analysisAdd BLAST21
Topological domaini1747 – 1905CytoplasmicSequence analysisAdd BLAST159

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Cenani-Lenz syndactyly syndrome (CLSS)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA congenital malformation syndrome defined as complete and complex syndactyly of the hands combined with malformations of the forearm bones and similar manifestations in the lower limbs. It is characterized by fusion and disorganization of metacarpal and phalangeal bones, radius and ulnar shortening, radioulnar synostosis, and severe syndactyly of hands and feet.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063776137D → N in CLSS; abolishes the antagonistic effect of LRP4 on LRP6-mediated activation of Wnt signaling. 1 PublicationCorresponds to variant dbSNP:rs267607222EnsemblClinVar.1
Natural variantiVAR_063777160C → Y in CLSS; abolishes the antagonistic effect of LRP4 on LRP6-mediated activation of Wnt signaling. 1 PublicationCorresponds to variant dbSNP:rs267607221EnsemblClinVar.1
Natural variantiVAR_063778449D → N in CLSS; abolishes the antagonistic effect of LRP4 on LRP6-mediated activation of Wnt signaling. 1 PublicationCorresponds to variant dbSNP:rs267607224EnsemblClinVar.1
Natural variantiVAR_063779461T → P in CLSS. 1 PublicationCorresponds to variant dbSNP:rs267607223EnsemblClinVar.1
Natural variantiVAR_063780473L → F in CLSS; abolishes the antagonistic effect of LRP4 on LRP6-mediated activation of Wnt signaling. 1 Publication1
Natural variantiVAR_063781529D → N in CLSS; abolishes the antagonistic effect of LRP4 on LRP6-mediated activation of Wnt signaling. 1 PublicationCorresponds to variant dbSNP:rs267607220EnsemblClinVar.1
Natural variantiVAR_0637821017C → R in CLSS. 1 Publication1
Sclerosteosis 2 (SOST2)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA sclerosing bone dysplasia characterized by a generalized hyperostosis and sclerosis leading to a markedly thickened skull, with mandible, ribs, clavicles and all long bones also being affected. Due to narrowing of the foramina of the cranial nerves, facial nerve palsy, hearing loss and atrophy of the optic nerves can occur. Sclerosteosis is clinically and radiologically very similar to van Buchem disease, mainly differentiated by hand malformations and a large stature in sclerosteosis patients.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0666301170R → W in SOST2; impairs the interaction with SOST; loss of function as facilitator of SOST-mediated inhibition of Wnt signaling; has no effect on AGRN-mediated MUSK signaling; retains the ability to bind AGRN and MUSK. 2 PublicationsCorresponds to variant dbSNP:rs387906884EnsemblClinVar.1
Natural variantiVAR_0666311186W → S in SOST2; impairs the interaction with SOST; loss of function as facilitator of SOST-mediated inhibition of Wnt signaling; has no effect on AGRN-mediated MUSK signaling; retains the ability to bind AGRN and MUSK. 2 PublicationsCorresponds to variant dbSNP:rs387906883EnsemblClinVar.1
Myasthenic syndrome, congenital, 17 (CMS17)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0736951233E → K in CMS17; decreases binding affinity for AGRN and MUSK proteins; does not enhance downstream activation of the MUSK signaling pathway thus impairing clustering of AChRs. 1 PublicationCorresponds to variant dbSNP:rs786205153EnsemblClinVar.1
Natural variantiVAR_0736961277R → H in CMS17; decreases binding affinity for AGRN and MUSK proteins; does not enhance downstream activation of the MUSK signaling pathway thus impairing clustering of AChRs. 1 PublicationCorresponds to variant dbSNP:rs746136135EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi1214N → A: Compromises Wnt-suppressive activity. 1 Publication1
Mutagenesisi1252V → A: Compromises AGRN-mediated up-regulation of MUSK signaling. 1 Publication1
Mutagenesisi1256Y → A: Compromises Wnt-suppressive activity. 1 Publication1
Mutagenesisi1287I → A: Compromises AGRN-mediated up-regulation of MUSK signaling. 1 Publication1

Keywords - Diseasei

Congenital myasthenic syndrome, Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		4038

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		LRP4

MalaCards human disease database

More...MalaCardsi		LRP4
MIMi212780, phenotype
614305, phenotype
616304, phenotype

Open Targets

More...OpenTargetsi		ENSG00000134569

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		3258, Cenani-Lenz syndrome
98913, Postsynaptic congenital myasthenic syndromes
3152, Sclerosteosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA30454

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O75096, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		LRP4

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 20Sequence analysisAdd BLAST20
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001732521 – 1905Low-density lipoprotein receptor-related protein 4Add BLAST1885

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi27 ↔ 44PROSITE-ProRule annotation
Disulfide bondi34 ↔ 57PROSITE-ProRule annotation
Disulfide bondi51 ↔ 66PROSITE-ProRule annotation
Disulfide bondi71 ↔ 83PROSITE-ProRule annotation
Disulfide bondi78 ↔ 96PROSITE-ProRule annotation
Disulfide bondi90 ↔ 105PROSITE-ProRule annotation
Disulfide bondi110 ↔ 122PROSITE-ProRule annotation
Disulfide bondi117 ↔ 135PROSITE-ProRule annotation
Disulfide bondi129 ↔ 143PROSITE-ProRule annotation
Disulfide bondi148 ↔ 160PROSITE-ProRule annotation
Disulfide bondi155 ↔ 173PROSITE-ProRule annotation
Disulfide bondi167 ↔ 182PROSITE-ProRule annotation
Disulfide bondi191 ↔ 203PROSITE-ProRule annotation
Disulfide bondi198 ↔ 216PROSITE-ProRule annotation
Disulfide bondi210 ↔ 225PROSITE-ProRule annotation
Disulfide bondi231 ↔ 243PROSITE-ProRule annotation
Disulfide bondi238 ↔ 256PROSITE-ProRule annotation
Disulfide bondi250 ↔ 265PROSITE-ProRule annotation
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi264N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi270 ↔ 282PROSITE-ProRule annotation
Disulfide bondi277 ↔ 295PROSITE-ProRule annotation
Disulfide bondi289 ↔ 304PROSITE-ProRule annotation
Disulfide bondi312 ↔ 324PROSITE-ProRule annotation
Disulfide bondi319 ↔ 337PROSITE-ProRule annotation
Disulfide bondi331 ↔ 349PROSITE-ProRule annotation
Disulfide bondi358 ↔ 369PROSITE-ProRule annotation
Disulfide bondi365 ↔ 378PROSITE-ProRule annotation
Disulfide bondi380 ↔ 393PROSITE-ProRule annotation
Disulfide bondi399 ↔ 409PROSITE-ProRule annotation
Disulfide bondi405 ↔ 418PROSITE-ProRule annotation
Disulfide bondi420 ↔ 433PROSITE-ProRule annotation
Glycosylationi498N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi702 ↔ 713PROSITE-ProRule annotation
Disulfide bondi709 ↔ 722PROSITE-ProRule annotation
Glycosylationi719N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi724 ↔ 736PROSITE-ProRule annotation
Glycosylationi901N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1077N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1415N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1467N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O75096

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O75096

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O75096

MaxQB - The MaxQuant DataBase

More...MaxQBi		O75096

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		O75096

PeptideAtlas

More...PeptideAtlasi		O75096

PRoteomics IDEntifications database

More...PRIDEi		O75096

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		49760

Consortium for Top Down Proteomics

More...TopDownProteomicsi		O75096

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		O75096, 12 sites, 2 O-linked glycans (3 sites)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O75096

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		O75096

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in bone; present in osteoblasts and osteocytes. No expression is observed in osteoclast. Expressed in several regions of the brain.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000134569, Expressed in ventricular zone and 199 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O75096, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O75096, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000134569, Group enriched (brain, skin)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homooligomer.

Interacts with MUSK; the heterodimer forms an AGRIN receptor complex that binds AGRIN resulting in activation of MUSK (By similarity).

Interacts (via the extracellular domain) with SOST; the interaction facilitates the inhibition of Wnt signaling (PubMed:21471202).

Interacts with MESD; the interaction promotes glycosylation of LRP4 and its cell-surface expression (By similarity).

By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		110218, 72 interactors

Protein interaction database and analysis system

More...IntActi		O75096, 102 interactors

Molecular INTeraction database

More...MINTi		O75096

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000367888

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O75096, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		O75096

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini26 – 67LDL-receptor class A 1PROSITE-ProRule annotationAdd BLAST42
Domaini70 – 106LDL-receptor class A 2PROSITE-ProRule annotationAdd BLAST37
Domaini109 – 144LDL-receptor class A 3PROSITE-ProRule annotationAdd BLAST36
Domaini147 – 183LDL-receptor class A 4PROSITE-ProRule annotationAdd BLAST37
Domaini190 – 226LDL-receptor class A 5PROSITE-ProRule annotationAdd BLAST37
Domaini230 – 266LDL-receptor class A 6PROSITE-ProRule annotationAdd BLAST37
Domaini269 – 305LDL-receptor class A 7PROSITE-ProRule annotationAdd BLAST37
Domaini311 – 350LDL-receptor class A 8PROSITE-ProRule annotationAdd BLAST40
Domaini354 – 394EGF-like 1; calcium-bindingSequence analysisAdd BLAST41
Domaini395 – 434EGF-like 2; calcium-bindingSequence analysisAdd BLAST40
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati480 – 522LDL-receptor class B 1Add BLAST43
Repeati523 – 565LDL-receptor class B 2Add BLAST43
Repeati566 – 609LDL-receptor class B 3Add BLAST44
Repeati610 – 652LDL-receptor class B 4Add BLAST43
Repeati653 – 693LDL-receptor class B 5Add BLAST41
Domaini698 – 737EGF-like 3Add BLAST40
Repeati785 – 827LDL-receptor class B 6Add BLAST43
Repeati828 – 870LDL-receptor class B 7Add BLAST43
Repeati871 – 914LDL-receptor class B 8Add BLAST44
Repeati915 – 956LDL-receptor class B 9Add BLAST42
Repeati957 – 998LDL-receptor class B 10Add BLAST42
Repeati1093 – 1135LDL-receptor class B 11Add BLAST43
Repeati1136 – 1178LDL-receptor class B 12Add BLAST43
Repeati1179 – 1222LDL-receptor class B 13Add BLAST44
Repeati1223 – 1263LDL-receptor class B 14Add BLAST41
Repeati1264 – 1306LDL-receptor class B 15Add BLAST43
Repeati1397 – 1439LDL-receptor class B 16Add BLAST43
Repeati1440 – 1482LDL-receptor class B 17Add BLAST43
Repeati1483 – 1526LDL-receptor class B 18Add BLAST44
Repeati1527 – 1568LDL-receptor class B 19Add BLAST42
Repeati1569 – 1610LDL-receptor class B 20Add BLAST42

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1659 – 1686DisorderedSequence analysisAdd BLAST28
Regioni1852 – 1905DisorderedSequence analysisAdd BLAST54

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi1766 – 1769Endocytosis signalSequence analysis4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1667 – 1686Polar residuesSequence analysisAdd BLAST20
Compositional biasi1852 – 1881Polar residuesSequence analysisAdd BLAST30
Compositional biasi1888 – 1905Basic and acidic residuesSequence analysisAdd BLAST18

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the LDLR family.Curated

Keywords - Domaini

EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1215, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158287

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000085_4_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O75096

Identification of Orthologs from Complete Genome Data

More...OMAi		NNRYTAI

Database of Orthologous Groups

More...OrthoDBi		121310at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O75096

TreeFam database of animal gene trees

More...TreeFami		TF315253

Family and domain databases

Conserved Domains Database

More...CDDi		cd00112, LDLa, 7 hits

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.120.10.30, 4 hits
4.10.400.10, 8 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR011042, 6-blade_b-propeller_TolB-like
IPR026823, cEGF
IPR001881, EGF-like_Ca-bd_dom
IPR000742, EGF-like_dom
IPR018097, EGF_Ca-bd_CS
IPR009030, Growth_fac_rcpt_cys_sf
IPR036055, LDL_receptor-like_sf
IPR023415, LDLR_class-A_CS
IPR000033, LDLR_classB_rpt
IPR002172, LDrepeatLR_classA_rpt

Pfam protein domain database

More...Pfami		View protein in Pfam
PF12662, cEGF, 1 hit
PF00057, Ldl_recept_a, 8 hits
PF00058, Ldl_recept_b, 16 hits

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00261, LDLRECEPTOR

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00181, EGF, 7 hits
SM00179, EGF_CA, 3 hits
SM00192, LDLa, 8 hits
SM00135, LY, 20 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF57184, SSF57184, 1 hit
SSF57424, SSF57424, 8 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00010, ASX_HYDROXYL, 1 hit
PS01186, EGF_2, 3 hits
PS01187, EGF_CA, 1 hit
PS01209, LDLRA_1, 8 hits
PS50068, LDLRA_2, 8 hits
PS51120, LDLRB, 20 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

O75096-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MRRQWGALLL GALLCAHGLA SSPECACGRS HFTCAVSALG ECTCIPAQWQ 
        60         70         80         90        100
CDGDNDCGDH SDEDGCILPT CSPLDFHCDN GKCIRRSWVC DGDNDCEDDS 
       110        120        130        140        150
DEQDCPPREC EEDEFPCQNG YCIRSLWHCD GDNDCGDNSD EQCDMRKCSD 
       160        170        180        190        200
KEFRCSDGSC IAEHWYCDGD TDCKDGSDEE NCPSAVPAPP CNLEEFQCAY 
       210        220        230        240        250
GRCILDIYHC DGDDDCGDWS DESDCSSHQP CRSGEFMCDS GLCINAGWRC 
       260        270        280        290        300
DGDADCDDQS DERNCTTSMC TAEQFRCHSG RCVRLSWRCD GEDDCADNSD 
       310        320        330        340        350
EENCENTGSP QCALDQFLCW NGRCIGQRKL CNGVNDCGDN SDESPQQNCR 
       360        370        380        390        400
PRTGEENCNV NNGGCAQKCQ MVRGAVQCTC HTGYRLTEDG HTCQDVNECA 
       410        420        430        440        450
EEGYCSQGCT NSEGAFQCWC ETGYELRPDR RSCKALGPEP VLLFANRIDI 
       460        470        480        490        500
RQVLPHRSEY TLLLNNLENA IALDFHHRRE LVFWSDVTLD RILRANLNGS 
       510        520        530        540        550
NVEEVVSTGL ESPGGLAVDW VHDKLYWTDS GTSRIEVANL DGAHRKVLLW 
       560        570        580        590        600
QNLEKPRAIA LHPMEGTIYW TDWGNTPRIE ASSMDGSGRR IIADTHLFWP 
       610        620        630        640        650
NGLTIDYAGR RMYWVDAKHH VIERANLDGS HRKAVISQGL PHPFAITVFE 
       660        670        680        690        700
DSLYWTDWHT KSINSANKFT GKNQEIIRNK LHFPMDIHTL HPQRQPAGKN 
       710        720        730        740        750
RCGDNNGGCT HLCLPSGQNY TCACPTGFRK ISSHACAQSL DKFLLFARRM 
       760        770        780        790        800
DIRRISFDTE DLSDDVIPLA DVRSAVALDW DSRDDHVYWT DVSTDTISRA 
       810        820        830        840        850
KWDGTGQEVV VDTSLESPAG LAIDWVTNKL YWTDAGTDRI EVANTDGSMR 
       860        870        880        890        900
TVLIWENLDR PRDIVVEPMG GYMYWTDWGA SPKIERAGMD ASGRQVIISS 
       910        920        930        940        950
NLTWPNGLAI DYGSQRLYWA DAGMKTIEFA GLDGSKRKVL IGSQLPHPFG 
       960        970        980        990       1000
LTLYGERIYW TDWQTKSIQS ADRLTGLDRE TLQENLENLM DIHVFHRRRP 
      1010       1020       1030       1040       1050
PVSTPCAMEN GGCSHLCLRS PNPSGFSCTC PTGINLLSDG KTCSPGMNSF 
      1060       1070       1080       1090       1100
LIFARRIDIR MVSLDIPYFA DVVVPINITM KNTIAIGVDP QEGKVYWSDS 
      1110       1120       1130       1140       1150
TLHRISRANL DGSQHEDIIT TGLQTTDGLA VDAIGRKVYW TDTGTNRIEV 
      1160       1170       1180       1190       1200
GNLDGSMRKV LVWQNLDSPR AIVLYHEMGF MYWTDWGENA KLERSGMDGS 
      1210       1220       1230       1240       1250
DRAVLINNNL GWPNGLTVDK ASSQLLWADA HTERIEAADL NGANRHTLVS 
      1260       1270       1280       1290       1300
PVQHPYGLTL LDSYIYWTDW QTRSIHRADK GTGSNVILVR SNLPGLMDMQ 
      1310       1320       1330       1340       1350
AVDRAQPLGF NKCGSRNGGC SHLCLPRPSG FSCACPTGIQ LKGDGKTCDP 
      1360       1370       1380       1390       1400
SPETYLLFSS RGSIRRISLD TSDHTDVHVP VPELNNVISL DYDSVDGKVY 
      1410       1420       1430       1440       1450
YTDVFLDVIR RADLNGSNME TVIGRGLKTT DGLAVDWVAR NLYWTDTGRN 
      1460       1470       1480       1490       1500
TIEASRLDGS CRKVLINNSL DEPRAIAVFP RKGYLFWTDW GHIAKIERAN 
      1510       1520       1530       1540       1550
LDGSERKVLI NTDLGWPNGL TLDYDTRRIY WVDAHLDRIE SADLNGKLRQ 
      1560       1570       1580       1590       1600
VLVSHVSHPF ALTQQDRWIY WTDWQTKSIQ RVDKYSGRNK ETVLANVEGL 
      1610       1620       1630       1640       1650
MDIIVVSPQR QTGTNACGVN NGGCTHLCFA RASDFVCACP DEPDSRPCSL 
      1660       1670       1680       1690       1700
VPGLVPPAPR ATGMSEKSPV LPNTPPTTLY SSTTRTRTSL EEVEGRCSER 
      1710       1720       1730       1740       1750
DARLGLCARS NDAVPAAPGE GLHISYAIGG LLSILLILVV IAALMLYRHK 
      1760       1770       1780       1790       1800
KSKFTDPGMG NLTYSNPSYR TSTQEVKIEA IPKPAMYNQL CYKKEGGPDH 
      1810       1820       1830       1840       1850
NYTKEKIKIV EGICLLSGDD AEWDDLKQLR SSRGGLLRDH VCMKTDTVSI 
      1860       1870       1880       1890       1900
QASSGSLDDT ETEQLLQEEQ SECSSVHTAA TPERRGSLPD TGWKHERKLS 

SESQV
Length:1,905
Mass (Da):212,045
Last modified:November 24, 2009 - v4
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iA39117C18279F9AA
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PNJ5E9PNJ5_HUMAN
Low-density lipoprotein receptor-re...
LRP4
133Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAE19679 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti1472 – 1475EPRA → D in BAE19679 (PubMed:9693030).Curated4
Sequence conflicti1478V → A in BAE19679 (PubMed:9693030).Curated1
Sequence conflicti1862T → M in BAD83615 (Ref. 1) Curated1
Sequence conflicti1862T → M in BAA32468 (PubMed:9693030).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063776137D → N in CLSS; abolishes the antagonistic effect of LRP4 on LRP6-mediated activation of Wnt signaling. 1 PublicationCorresponds to variant dbSNP:rs267607222EnsemblClinVar.1
Natural variantiVAR_063777160C → Y in CLSS; abolishes the antagonistic effect of LRP4 on LRP6-mediated activation of Wnt signaling. 1 PublicationCorresponds to variant dbSNP:rs267607221EnsemblClinVar.1
Natural variantiVAR_058290314L → S. Corresponds to variant dbSNP:rs7926667EnsemblClinVar.1
Natural variantiVAR_063778449D → N in CLSS; abolishes the antagonistic effect of LRP4 on LRP6-mediated activation of Wnt signaling. 1 PublicationCorresponds to variant dbSNP:rs267607224EnsemblClinVar.1
Natural variantiVAR_063779461T → P in CLSS. 1 PublicationCorresponds to variant dbSNP:rs267607223EnsemblClinVar.1
Natural variantiVAR_063780473L → F in CLSS; abolishes the antagonistic effect of LRP4 on LRP6-mediated activation of Wnt signaling. 1 Publication1
Natural variantiVAR_063781529D → N in CLSS; abolishes the antagonistic effect of LRP4 on LRP6-mediated activation of Wnt signaling. 1 PublicationCorresponds to variant dbSNP:rs267607220EnsemblClinVar.1
Natural variantiVAR_0637821017C → R in CLSS. 1 Publication1
Natural variantiVAR_0579551086I → V3 PublicationsCorresponds to variant dbSNP:rs6485702EnsemblClinVar.1
Natural variantiVAR_0666301170R → W in SOST2; impairs the interaction with SOST; loss of function as facilitator of SOST-mediated inhibition of Wnt signaling; has no effect on AGRN-mediated MUSK signaling; retains the ability to bind AGRN and MUSK. 2 PublicationsCorresponds to variant dbSNP:rs387906884EnsemblClinVar.1
Natural variantiVAR_0666311186W → S in SOST2; impairs the interaction with SOST; loss of function as facilitator of SOST-mediated inhibition of Wnt signaling; has no effect on AGRN-mediated MUSK signaling; retains the ability to bind AGRN and MUSK. 2 PublicationsCorresponds to variant dbSNP:rs387906883EnsemblClinVar.1
Natural variantiVAR_0582911203A → V. Corresponds to variant dbSNP:rs2306033EnsemblClinVar.1
Natural variantiVAR_0736951233E → K in CMS17; decreases binding affinity for AGRN and MUSK proteins; does not enhance downstream activation of the MUSK signaling pathway thus impairing clustering of AChRs. 1 PublicationCorresponds to variant dbSNP:rs786205153EnsemblClinVar.1
Natural variantiVAR_0582921238A → T. Corresponds to variant dbSNP:rs2306031Ensembl.1
Natural variantiVAR_0736961277R → H in CMS17; decreases binding affinity for AGRN and MUSK proteins; does not enhance downstream activation of the MUSK signaling pathway thus impairing clustering of AChRs. 1 PublicationCorresponds to variant dbSNP:rs746136135EnsemblClinVar.1
Natural variantiVAR_0579561554S → G3 PublicationsCorresponds to variant dbSNP:rs2306029EnsemblClinVar.1
Natural variantiVAR_0579571646R → Q3 PublicationsCorresponds to variant dbSNP:rs3816614EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AB084910 mRNA Translation: BAD83615.1
AB011540 mRNA Translation: BAA32468.1
AB231861 mRNA Translation: BAE19679.1 Different initiation.
AC021573 Genomic DNA No translation available.
BC037360 mRNA Translation: AAH37360.1
BC041048 mRNA Translation: AAH41048.1
BC136667 mRNA Translation: AAI36668.1
BC136668 mRNA Translation: AAI36669.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS31478.1

NCBI Reference Sequences

More...RefSeqi		NP_002325.2, NM_002334.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000378623; ENSP00000367888; ENSG00000134569

Database of genes from NCBI RefSeq genomes

More...GeneIDi		4038

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:4038

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000378623.6; ENSP00000367888.1; NM_002334.4; NP_002325.2

UCSC genome browser

More...UCSCi		uc001ndn.5, human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB084910 mRNA Translation: BAD83615.1
AB011540 mRNA Translation: BAA32468.1
AB231861 mRNA Translation: BAE19679.1 Different initiation.
AC021573 Genomic DNA No translation available.
BC037360 mRNA Translation: AAH37360.1
BC041048 mRNA Translation: AAH41048.1
BC136667 mRNA Translation: AAI36668.1
BC136668 mRNA Translation: AAI36669.1
CCDSiCCDS31478.1
RefSeqiNP_002325.2, NM_002334.3

3D structure databases

SMRiO75096
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi110218, 72 interactors
IntActiO75096, 102 interactors
MINTiO75096
STRINGi9606.ENSP00000367888

Protein family/group databases

TCDBi9.B.87.1.24, the selenoprotein p receptor (selp-receptor) family

PTM databases

GlyGeniO75096, 12 sites, 2 O-linked glycans (3 sites)
iPTMnetiO75096
PhosphoSitePlusiO75096

Genetic variation databases

BioMutaiLRP4

Proteomic databases

EPDiO75096
jPOSTiO75096
MassIVEiO75096
MaxQBiO75096
PaxDbiO75096
PeptideAtlasiO75096
PRIDEiO75096
ProteomicsDBi49760
TopDownProteomicsiO75096

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		1985, 363 antibodies from 37 providers

The DNASU plasmid repository

More...DNASUi		4038

Genome annotation databases

EnsembliENST00000378623; ENSP00000367888; ENSG00000134569
GeneIDi4038
KEGGihsa:4038
MANE-SelectiENST00000378623.6; ENSP00000367888.1; NM_002334.4; NP_002325.2
UCSCiuc001ndn.5, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		4038
DisGeNETi4038

GeneCards: human genes, protein and diseases

More...GeneCardsi		LRP4
GeneReviewsiLRP4
HGNCiHGNC:6696, LRP4
HPAiENSG00000134569, Group enriched (brain, skin)
MalaCardsiLRP4
MIMi212780, phenotype
604270, gene
614305, phenotype
616304, phenotype
neXtProtiNX_O75096
OpenTargetsiENSG00000134569
Orphaneti3258, Cenani-Lenz syndrome
98913, Postsynaptic congenital myasthenic syndromes
3152, Sclerosteosis
PharmGKBiPA30454
VEuPathDBiHostDB:ENSG00000134569

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1215, Eukaryota
GeneTreeiENSGT00940000158287
HOGENOMiCLU_000085_4_1_1
InParanoidiO75096
OMAiNNRYTAI
OrthoDBi121310at2759
PhylomeDBiO75096
TreeFamiTF315253

Enzyme and pathway databases

PathwayCommonsiO75096
ReactomeiR-HSA-3000178, ECM proteoglycans
SignaLinkiO75096
SIGNORiO75096

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		4038, 11 hits in 1037 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		LRP4, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Low_density_lipoprotein_receptor-related_protein_4

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		4038
PharosiO75096, Tbio

Protein Ontology

More...PROi		PR:O75096
RNActiO75096, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000134569, Expressed in ventricular zone and 199 other tissues
ExpressionAtlasiO75096, baseline and differential
GenevisibleiO75096, HS

Family and domain databases

CDDicd00112, LDLa, 7 hits
Gene3Di2.120.10.30, 4 hits
4.10.400.10, 8 hits
InterProiView protein in InterPro
IPR011042, 6-blade_b-propeller_TolB-like
IPR026823, cEGF
IPR001881, EGF-like_Ca-bd_dom
IPR000742, EGF-like_dom
IPR018097, EGF_Ca-bd_CS
IPR009030, Growth_fac_rcpt_cys_sf
IPR036055, LDL_receptor-like_sf
IPR023415, LDLR_class-A_CS
IPR000033, LDLR_classB_rpt
IPR002172, LDrepeatLR_classA_rpt
PfamiView protein in Pfam
PF12662, cEGF, 1 hit
PF00057, Ldl_recept_a, 8 hits
PF00058, Ldl_recept_b, 16 hits
PRINTSiPR00261, LDLRECEPTOR
SMARTiView protein in SMART
SM00181, EGF, 7 hits
SM00179, EGF_CA, 3 hits
SM00192, LDLa, 8 hits
SM00135, LY, 20 hits
SUPFAMiSSF57184, SSF57184, 1 hit
SSF57424, SSF57424, 8 hits
PROSITEiView protein in PROSITE
PS00010, ASX_HYDROXYL, 1 hit
PS01186, EGF_2, 3 hits
PS01187, EGF_CA, 1 hit
PS01209, LDLRA_1, 8 hits
PS50068, LDLRA_2, 8 hits
PS51120, LDLRB, 20 hits

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiLRP4_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O75096
Secondary accession number(s): B2RN39, Q4AC85, Q5KTZ5
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: November 24, 2009
Last modified: February 23, 2022
This is version 180 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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