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UniProtKB - Q5SW96 (ARH_HUMAN)

Protein

Low density lipoprotein receptor adapter protein 1

Gene

LDLRAP1

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

Adapter protein (clathrin-associated sorting protein (CLASP)) required for efficient endocytosis of the LDL receptor (LDLR) in polarized cells such as hepatocytes and lymphocytes, but not in non-polarized cells (fibroblasts). May be required for LDL binding and internalization but not for receptor clustering in coated pits. May facilitate the endocytocis of LDLR and LDLR-LDL complexes from coated pits by stabilizing the interaction between the receptor and the structural components of the pits. May also be involved in the internalization of other LDLR family members. Binds to phosphoinositides, which regulate clathrin bud assembly at the cell surface. Required for trafficking of LRP2 to the endocytic recycling compartment which is necessary for LRP2 proteolysis, releasing a tail fragment which translocates to the nucleus and mediates transcriptional repression (By similarity).By similarity1 Publication

<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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the 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

Biological processCholesterol metabolism, Endocytosis, Lipid metabolism, Steroid metabolism, Sterol metabolism

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-8964026 Chylomicron clearance
R-HSA-8964038 LDL clearance

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

More...MoonDBi		Q5SW96 Curated

<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_and_taxonomy_section">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 adapter protein 1Curated
Alternative name(s):
Autosomal recessive hypercholesterolemia protein1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:LDLRAP1Imported
Synonyms:ARH1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000157978.11

Human Gene Nomenclature Database

More...HGNCi		HGNC:18640 LDLRAP1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605747 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q5SW96

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

<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

Hypercholesterolemia, autosomal recessive (ARH)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA familial condition characterized by elevated circulating cholesterol contained in either low-density lipoproteins alone or also in very-low-density lipoproteins.
See also OMIM:603813
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_023320202S → H in ARH; Lebanon; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant dbSNP:rs386629678EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'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>Mutagenesisi165F → A: Abolishes LDLR cytoplasmic tail binding. 1 Publication1
Mutagenesisi165F → V: Abolishes LDLR cytoplasmic tail binding. 1 Publication1
Mutagenesisi212 – 213LL → AA: Abolishes clathrin binding. 1 Publication2
Mutagenesisi214D → A: Abolishes clathrin binding. 1 Publication1
Mutagenesisi216E → A: Abolishes clathrin binding. 1 Publication1
Mutagenesisi256D → R: Abolishes interaction with AP2B1. 1 Publication1
Mutagenesisi266R → A: Abolishes AP-2 complex binding. 1 Publication1

Keywords - Diseasei

Atherosclerosis, Disease mutation, Hyperlipidemia

Organism-specific databases

DisGeNET

More...DisGeNETi		26119

MalaCards human disease database

More...MalaCardsi		LDLRAP1
MIMi603813 phenotype

Open Targets

More...OpenTargetsi		ENSG00000157978

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

More...Orphaneti		391665 Homozygous familial hypercholesterolemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA128394641

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		LDLRAP1

Domain mapping of disease mutations (DMDM)

More...DMDMi		116241254

<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 describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000646751 – 308Low density lipoprotein receptor adapter protein 1Add BLAST308

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionineCombined sources1
Modified residuei14PhosphoserineCombined sources1
Modified residuei186PhosphoserineCombined sources1
Modified residuei202PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q5SW96

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q5SW96

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q5SW96

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

More...PaxDbi		Q5SW96

PeptideAtlas

More...PeptideAtlasi		Q5SW96

PRoteomics IDEntifications database

More...PRIDEi		Q5SW96

ProteomicsDB human proteome resource

More...ProteomicsDBi		63967

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q5SW96

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

More...PhosphoSitePlusi		Q5SW96

<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 at high levels in the kidney, liver, and placenta, with lower levels detectable in brain, heart, muscle, colon, spleen, intestine, lung, and leukocytes.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000157978 Expressed in 218 organ(s), highest expression level in right hemisphere of cerebellum

CleanEx database of gene expression profiles

More...CleanExi		HS_LDLRAP1

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q5SW96 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB003705
HPA050358

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts (via PID domain) with LDLR (via NPXY motif) (PubMed:12221107). Binds to soluble clathrin trimers (PubMed:12221107). Interacts with AP2B1; the interaction mediates the association with the AP-2 complex (PubMed:12221107). Interacts with VLDLR (By similarity). Interacts with LRP2 (By similarity).By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		117561, 13 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q5SW96

Protein interaction database and analysis system

More...IntActi		Q5SW96, 18 interactors

Molecular INTeraction database

More...MINTi		Q5SW96

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000363458

<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

Secondary structure

1308
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2G30X-ray1.60P252-267[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		Q5SW96

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

More...SMRi		Q5SW96

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q5SW96

<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_and_domains_section">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>Domaini42 – 196PIDPROSITE-ProRule annotationAdd BLAST155

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>Regioni249 – 276AP-2 complex binding1 PublicationAdd BLAST28

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>Motifi212 – 216Clathrin box1 Publication5
Motifi257 – 266[DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif1 Publication10

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 amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi23 – 26Poly-Gly4

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The [DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif mediates interaction the AP-2 complex subunit AP2B1.1 Publication
The PID domain mediates interaction with the NPXY internalization motif of LDLR.By similarity

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3536 Eukaryota
ENOG410ZHJT LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157118

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000030906

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG058060

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q5SW96

KEGG Orthology (KO)

More...KOi		K12474

Identification of Orthologs from Complete Genome Data

More...OMAi		DIHYAQC

Database of Orthologous Groups

More...OrthoDBi		1531411at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q5SW96

TreeFam database of animal gene trees

More...TreeFami		TF314159

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.30.29.30, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR011993 PH-like_dom_sf
IPR006020 PTB/PI_dom

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00640 PID, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00462 PTB, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS01179 PID, 1 hit

<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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

Q5SW96-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDALKSAGRA LIRSPSLAKQ SWGGGGRHRK LPENWTDTRE TLLEGMLFSL 
        60         70         80         90        100
KYLGMTLVEQ PKGEELSAAA IKRIVATAKA SGKKLQKVTL KVSPRGIILT 
       110        120        130        140        150
DNLTNQLIEN VSIYRISYCT ADKMHDKVFA YIAQSQHNQS LECHAFLCTK 
       160        170        180        190        200
RKMAQAVTLT VAQAFKVAFE FWQVSKEEKE KRDKASQEGG DVLGARQDCT 
       210        220        230        240        250
PSLKSLVATG NLLDLEETAK APLSTVSANT TNMDEVPRPQ ALSGSSVVWE 
       260        270        280        290        300
LDDGLDEAFS RLAQSRTNPQ VLDTGLTAQD MHYAQCLSPV DWDKPDSSGT 

EQDDLFSF
Length:308
Mass (Da):33,885
Last modified:October 17, 2006 - v3
<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:iDE83168CB328D2A7
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07692556T → M Probable disease-associated mutation found in patients with hypercholesterolemia. 1 PublicationCorresponds to variant dbSNP:rs752849346Ensembl.1
Natural variantiVAR_023320202S → H in ARH; Lebanon; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant dbSNP:rs386629678EnsemblClinVar.1
Natural variantiVAR_028403202S → P5 PublicationsCorresponds to variant dbSNP:rs6687605EnsemblClinVar.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
AY389348 Genomic DNA Translation: AAQ90407.1
AL117654 mRNA Translation: CAB56030.2
AL606491 Genomic DNA No translation available.
BX572623 Genomic DNA No translation available.
BC029770 mRNA Translation: AAH29770.2

The Consensus CDS (CCDS) project

More...CCDSi		CCDS30639.1

Protein sequence database of the Protein Information Resource

More...PIRi		T17340

NCBI Reference Sequences

More...RefSeqi		NP_056442.2, NM_015627.2

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.590911

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000374338; ENSP00000363458; ENSG00000157978

Database of genes from NCBI RefSeq genomes

More...GeneIDi		26119

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:26119

UCSC genome browser

More...UCSCi		uc001bkl.5 human

Keywords - Coding sequence diversityi

Polymorphism

<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
AY389348 Genomic DNA Translation: AAQ90407.1
AL117654 mRNA Translation: CAB56030.2
AL606491 Genomic DNA No translation available.
BX572623 Genomic DNA No translation available.
BC029770 mRNA Translation: AAH29770.2
CCDSiCCDS30639.1
PIRiT17340
RefSeqiNP_056442.2, NM_015627.2
UniGeneiHs.590911

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2G30X-ray1.60P252-267[»]
ProteinModelPortaliQ5SW96
SMRiQ5SW96
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117561, 13 interactors
ELMiQ5SW96
IntActiQ5SW96, 18 interactors
MINTiQ5SW96
STRINGi9606.ENSP00000363458

Protein family/group databases

MoonDBiQ5SW96 Curated

PTM databases

iPTMnetiQ5SW96
PhosphoSitePlusiQ5SW96

Polymorphism and mutation databases

BioMutaiLDLRAP1
DMDMi116241254

Proteomic databases

EPDiQ5SW96
jPOSTiQ5SW96
MaxQBiQ5SW96
PaxDbiQ5SW96
PeptideAtlasiQ5SW96
PRIDEiQ5SW96
ProteomicsDBi63967

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		26119
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000374338; ENSP00000363458; ENSG00000157978
GeneIDi26119
KEGGihsa:26119
UCSCiuc001bkl.5 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		26119
DisGeNETi26119
EuPathDBiHostDB:ENSG00000157978.11

GeneCards: human genes, protein and diseases

More...GeneCardsi		LDLRAP1

H-Invitational Database, human transcriptome db

More...H-InvDBi		HIX0023695
HGNCiHGNC:18640 LDLRAP1
HPAiCAB003705
HPA050358
MalaCardsiLDLRAP1
MIMi603813 phenotype
605747 gene
neXtProtiNX_Q5SW96
OpenTargetsiENSG00000157978
Orphaneti391665 Homozygous familial hypercholesterolemia
PharmGKBiPA128394641

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3536 Eukaryota
ENOG410ZHJT LUCA
GeneTreeiENSGT00940000157118
HOGENOMiHOG000030906
HOVERGENiHBG058060
InParanoidiQ5SW96
KOiK12474
OMAiDIHYAQC
OrthoDBi1531411at2759
PhylomeDBiQ5SW96
TreeFamiTF314159

Enzyme and pathway databases

ReactomeiR-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-8964026 Chylomicron clearance
R-HSA-8964038 LDL clearance

Miscellaneous databases

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

More...ChiTaRSi		LDLRAP1 human
EvolutionaryTraceiQ5SW96

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Low_density_lipoprotein_receptor_adapter_protein_1

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

More...GenomeRNAii		26119

Protein Ontology

More...PROi		PR:Q5SW96

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000157978 Expressed in 218 organ(s), highest expression level in right hemisphere of cerebellum
CleanExiHS_LDLRAP1
GenevisibleiQ5SW96 HS

Family and domain databases

Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR011993 PH-like_dom_sf
IPR006020 PTB/PI_dom
PfamiView protein in Pfam
PF00640 PID, 1 hit
SMARTiView protein in SMART
SM00462 PTB, 1 hit
PROSITEiView protein in PROSITE
PS01179 PID, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		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 nameiARH_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: Q5SW96
Secondary accession number(s): A2BHI5
, Q6TQS9, Q8N2Y0, Q9UFI9
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: October 17, 2006
Last modified: January 16, 2019
This is version 145 of the entry and version 3 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
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