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Aliases for LDLRAP1 Gene

Aliases for LDLRAP1 Gene

  • Low Density Lipoprotein Receptor Adaptor Protein 1 2 3 5
  • Autosomal Recessive Hypercholesterolemia Protein 3 4
  • ARH 3 4
  • LDL Receptor Adaptor Protein 3
  • FHCB1 3
  • FHCB2 3
  • ARH1 3
  • ARH2 3

External Ids for LDLRAP1 Gene

Previous GeneCards Identifiers for LDLRAP1 Gene

  • GC01P025742
  • GC01P025870
  • GC01P024124

Summaries for LDLRAP1 Gene

Entrez Gene Summary for LDLRAP1 Gene

  • The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008]

GeneCards Summary for LDLRAP1 Gene

LDLRAP1 (Low Density Lipoprotein Receptor Adaptor Protein 1) is a Protein Coding gene. Diseases associated with LDLRAP1 include hypercholesterolemia, familial, autosomal recessive and homozygous familial hypercholesterolemia. Among its related pathways are Lipoprotein metabolism and Metabolism. GO annotations related to this gene include phosphatidylinositol-4,5-bisphosphate binding and beta-amyloid binding. An important paralog of this gene is GULP1.

UniProtKB/Swiss-Prot for LDLRAP1 Gene

  • 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.

Gene Wiki entry for LDLRAP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LDLRAP1 Gene

Genomics for LDLRAP1 Gene

Regulatory Elements for LDLRAP1 Gene

Promoters for LDLRAP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LDLRAP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for LDLRAP1 Gene

Chromosome:
1
Start:
25,543,580 bp from pter
End:
25,591,287 bp from pter
Size:
47,708 bases
Orientation:
Plus strand

Genomic View for LDLRAP1 Gene

Genes around LDLRAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LDLRAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LDLRAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LDLRAP1 Gene

Proteins for LDLRAP1 Gene

  • Protein details for LDLRAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5SW96-ARH_HUMAN
    Recommended name:
    Low density lipoprotein receptor adapter protein 1
    Protein Accession:
    Q5SW96
    Secondary Accessions:
    • A2BHI5
    • Q6TQS9
    • Q8N2Y0
    • Q9UFI9

    Protein attributes for LDLRAP1 Gene

    Size:
    308 amino acids
    Molecular mass:
    33885 Da
    Quaternary structure:
    • Interacts with LDLR. Binds to soluble clathrin trimers. Interacts with AP2B1; the interaction mediates the association with the AP-2 complex. Interacts with VLDLR (By similarity).

    Three dimensional structures from OCA and Proteopedia for LDLRAP1 Gene

neXtProt entry for LDLRAP1 Gene

Proteomics data for LDLRAP1 Gene at MOPED

Post-translational modifications for LDLRAP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LDLRAP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LDLRAP1 Gene

Domains & Families for LDLRAP1 Gene

Protein Domains for LDLRAP1 Gene

Suggested Antigen Peptide Sequences for LDLRAP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5SW96

UniProtKB/Swiss-Prot:

ARH_HUMAN :
  • The [DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif mediates interaction the AP-2 complex subunit AP2B1.
Domain:
  • The [DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif mediates interaction the AP-2 complex subunit AP2B1.
  • Contains 1 PID domain.
genes like me logo Genes that share domains with LDLRAP1: view

No data available for Gene Families for LDLRAP1 Gene

Function for LDLRAP1 Gene

Molecular function for LDLRAP1 Gene

UniProtKB/Swiss-Prot Function:
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.

Gene Ontology (GO) - Molecular Function for LDLRAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IDA 12451172
GO:0030276 clathrin binding IDA 12221107
GO:0035612 AP-2 adaptor complex binding IDA 15728179
genes like me logo Genes that share ontologies with LDLRAP1: view
genes like me logo Genes that share phenotypes with LDLRAP1: view

Human Phenotype Ontology for LDLRAP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LDLRAP1 Gene

MGI Knock Outs for LDLRAP1:

Animal Model Products

  • Taconic Biosciences Mouse Models for LDLRAP1

CRISPR Products

miRNA for LDLRAP1 Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LDLRAP1 Gene

Localization for LDLRAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LDLRAP1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LDLRAP1 Gene COMPARTMENTS Subcellular localization image for LDLRAP1 gene
Compartment Confidence
cytosol 5
endosome 5
plasma membrane 5
cytoskeleton 4
nucleus 3
extracellular 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for LDLRAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009898 cytoplasmic side of plasma membrane IDA 14528014
GO:0030121 colocalizes_with AP-1 adaptor complex IDA 12451172
GO:0055037 recycling endosome IDA 14528014
genes like me logo Genes that share ontologies with LDLRAP1: view

Pathways & Interactions for LDLRAP1 Gene

genes like me logo Genes that share pathways with LDLRAP1: view

Gene Ontology (GO) - Biological Process for LDLRAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008203 cholesterol metabolic process NAS 12451172
GO:0009967 positive regulation of signal transduction IDA 12221107
GO:0090118 receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport IMP 12417523
GO:0090205 positive regulation of cholesterol metabolic process IC 15166224
genes like me logo Genes that share ontologies with LDLRAP1: view

No data available for SIGNOR curated interactions for LDLRAP1 Gene

Drugs & Compounds for LDLRAP1 Gene

(1) Drugs for LDLRAP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for LDLRAP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LDLRAP1: view

Transcripts for LDLRAP1 Gene

Unigene Clusters for LDLRAP1 Gene

Low density lipoprotein receptor adaptor protein 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LDLRAP1 Gene

No ASD Table

Relevant External Links for LDLRAP1 Gene

GeneLoc Exon Structure for
LDLRAP1
ECgene alternative splicing isoforms for
LDLRAP1

Expression for LDLRAP1 Gene

mRNA expression in normal human tissues for LDLRAP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LDLRAP1 Gene

This gene is overexpressed in Brain - Cerebellum (x4.8) and Brain - Cerebellar Hemisphere (x4.2).

Protein differential expression in normal tissues from HIPED for LDLRAP1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (16.2), Platelet (15.3), CD4 Tcells (8.0), Pancreas (7.2), and CD8 Tcells (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for LDLRAP1 Gene



SOURCE GeneReport for Unigene cluster for LDLRAP1 Gene Hs.590911

mRNA Expression by UniProt/SwissProt for LDLRAP1 Gene

Q5SW96-ARH_HUMAN
Tissue specificity: Expressed at high levels in the kidney, liver, and placenta, with lower levels detectable in brain, heart, muscle, colon, spleen, intestine, lung, and leukocytes.
genes like me logo Genes that share expression patterns with LDLRAP1: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for LDLRAP1 Gene

Orthologs for LDLRAP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for LDLRAP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LDLRAP1 35
  • 99.23 (n)
  • 99.62 (a)
LDLRAP1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LDLRAP1 36
  • 92 (a)
OneToOne
LDLRAP1 35
  • 90.26 (n)
  • 92.21 (a)
dog
(Canis familiaris)
Mammalia LDLRAP1 35
  • 89.61 (n)
  • 93.18 (a)
LDLRAP1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ldlrap1 36
  • 90 (a)
OneToOne
Ldlrap1 16
Ldlrap1 35
  • 86.21 (n)
  • 89.9 (a)
oppossum
(Monodelphis domestica)
Mammalia LDLRAP1 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LDLRAP1 36
  • 60 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ldlrap1 35
  • 85.67 (n)
  • 89.9 (a)
chicken
(Gallus gallus)
Aves LDLRAP1 36
  • 73 (a)
OneToOne
LDLRAP1 35
  • 71.13 (n)
  • 74.51 (a)
lizard
(Anolis carolinensis)
Reptilia LDLRAP1 36
  • 89 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.8355 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ldlrap1 35
  • 65.8 (n)
  • 72.55 (a)
Str.11033 35
zebrafish
(Danio rerio)
Actinopterygii ldlrap1a 36
  • 64 (a)
OneToMany
ldlrap1b 36
  • 71 (a)
OneToMany
ldlrap1b 35
  • 67.88 (n)
  • 70.43 (a)
sbcb50 35
Species with no ortholog for LDLRAP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LDLRAP1 Gene

ENSEMBL:
Gene Tree for LDLRAP1 (if available)
TreeFam:
Gene Tree for LDLRAP1 (if available)

Paralogs for LDLRAP1 Gene

Paralogs for LDLRAP1 Gene

genes like me logo Genes that share paralogs with LDLRAP1: view

Variants for LDLRAP1 Gene

Sequence variations from dbSNP and Humsavar for LDLRAP1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_023320 Hypercholesterolemia, autosomal recessive (ARH)
rs6687605 - 25,563,141(+) CCCCC(A/C/G/T)CCTTG nc-transcript-variant, reference, missense
rs4282808 -- 25,588,930(+) TCCTA(C/T)GTGCT intron-variant
rs4537542 -- 25,568,786(+) TGTCC(A/C/G)TGTGC intron-variant, utr-variant-3-prime
rs4075439 -- 25,580,311(+) GTAAT(C/G)CCAGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LDLRAP1 Gene

Variant ID Type Subtype PubMed ID
nsv870470 CNV Gain 21882294

Variation tolerance for LDLRAP1 Gene

Residual Variation Intolerance Score: 56.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.96; 49.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LDLRAP1 Gene

HapMap Linkage Disequilibrium report
LDLRAP1
Human Gene Mutation Database (HGMD)
LDLRAP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LDLRAP1 Gene

Disorders for LDLRAP1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for LDLRAP1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypercholesterolemia, familial, autosomal recessive
  • hypercholesterolemia, autosomal recessive
homozygous familial hypercholesterolemia
  • hofh
ldlrap1-related familial hypercholesterolemia, autosomal recessive
hypercholesterolemia, familial
  • hypercholesterolemia, familial, modifier of
cholesterol ester storage disease
  • cholesteryl ester storage disease
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ARH_HUMAN
  • Hypercholesterolemia, autosomal recessive (ARH) [MIM:603813]: A familial condition characterized by elevated circulating cholesterol contained in either low-density lipoproteins alone or also in very-low-density lipoproteins. {ECO:0000269 PubMed:11326085}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LDLRAP1

Genetic Association Database (GAD)
LDLRAP1
Human Genome Epidemiology (HuGE) Navigator
LDLRAP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LDLRAP1
genes like me logo Genes that share disorders with LDLRAP1: view

No data available for Genatlas for LDLRAP1 Gene

Publications for LDLRAP1 Gene

  1. Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. (PMID: 11326085) Garcia C.K. … Hobbs H.H. (Science 2001) 3 4 23 67
  2. Autosomal recessive hypercholesterolemia in Spanish kindred due to a large deletion in the ARH gene. (PMID: 17686643) Quagliarini F. … Arca M. (Mol. Genet. Metab. 2007) 3 23
  3. A single common portal for clathrin-mediated endocytosis of distinct cargo governed by cargo-selective adaptors. (PMID: 16870701) Keyel P.A. … Traub L.M. (Mol. Biol. Cell 2006) 3 23
  4. A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia. (PMID: 15599766) Canizales-Quinteros S. … TusiAc-Luna M.T. (Hum. Genet. 2005) 3 23
  5. Adaptor protein ARH is recruited to the plasma membrane by low density lipoprotein (LDL) binding and modulates endocytosis of the LDL/LDL receptor complex in hepatocytes. (PMID: 16129683) Sirinian M.I. … Arca M. (J. Biol. Chem. 2005) 3 23

Products for LDLRAP1 Gene

Sources for LDLRAP1 Gene

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