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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
  • Low Density Lipoprotein Receptor Adapter Protein 1 3
  • 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 Metabolism and Lipoprotein 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

Additional gene information for LDLRAP1 Gene

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

Genomics for LDLRAP1 Gene

Regulatory Elements for LDLRAP1 Gene

Enhancers for LDLRAP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H025565 1.5 Ensembl ENCODE dbSUPER 30 +24.1 24088 5.8 ATF1 ZNF2 TCF12 GLIS2 ATF7 FOS DEK SMARCB1 ZNF623 MBD2 LDLRAP1 ENSG00000225643
GH01H025559 1.4 Ensembl ENCODE dbSUPER 26.6 +18.2 18242 4 HDAC1 HDGF PTBP1 ZNF473 KLF17 ATF7 RUNX3 IKZF2 SMARCA5 ZEB2 LDLRAP1 LOC101928324 ENSG00000233478 LIN28A ENSG00000225643 SDHDP6 TMEM50A
GH01H025573 1.3 Ensembl ENCODE dbSUPER 14 +30.3 30263 1.3 CTCF MXI1 SAP130 MAX CEBPG ZIC2 RAD21 YY1 GATA3 TCF7L2 LDLRAP1 ENSG00000225643
GH01H025520 0.9 ENCODE dbSUPER 12.6 -22.9 -22916 0.2 CTCF ZNF654 TRIM22 REST RAD21 CC2D1A ZNF143 SMC3 ZNF24 ZNF391 LDLRAP1 SELENON ENSG00000233478 GC01M025438
GH01H025547 1.6 Ensembl ENCODE dbSUPER 6.1 +6.1 6095 3.6 HDGF PKNOX1 FOXA2 SIN3A ARID4B ZNF143 FOS SP3 JUNB REST SELENON LDLRAP1 ENSG00000225643
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LDLRAP1 on UCSC Golden Path with GeneCards custom track

Promoters for LDLRAP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000003391 320 1401 HDGF ARNT SIN3A ZNF121 GLIS2 CBX5 ATF7 ZNF592 SMARCA4 GLIS1

Genomic Locations for LDLRAP1 Gene

Genomic Locations for LDLRAP1 Gene
chr1:25,543,580-25,591,287
(GRCh38/hg38)
Size:
47,708 bases
Orientation:
Plus strand
chr1:25,870,071-25,895,377
(GRCh37/hg19)

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 (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).

    Three dimensional structures from OCA and Proteopedia for LDLRAP1 Gene

neXtProt entry for LDLRAP1 Gene

Post-translational modifications for LDLRAP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for LDLRAP1 Gene

Domains & Families for LDLRAP1 Gene

Gene Families for LDLRAP1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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.
  • The PID domain mediates interaction with the NPXY internalization motif of LDLR.
genes like me logo Genes that share domains with LDLRAP1: view

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.

Phenotypes From GWAS Catalog for LDLRAP1 Gene

Gene Ontology (GO) - Molecular Function for LDLRAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 beta-amyloid binding IPI 12805363
GO:0001784 phosphotyrosine binding IDA 12451172
GO:0005515 protein binding IPI 12221107
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IDA 12451172
GO:0030159 receptor signaling complex scaffold activity IMP 15166224
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

miRNA for LDLRAP1 Gene

Clone Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LDLRAP1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
endosome 5
cytoskeleton 4
nucleus 3
extracellular 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for LDLRAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005769 early endosome IDA,IEA 14528014
GO:0005829 cytosol IDA 12451172
GO:0005883 neurofilament ISS,IEA 17727637
GO:0005886 plasma membrane TAS --
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:0006629 lipid metabolic process IEA --
GO:0006810 transport NAS 12451172
GO:0006897 endocytosis IEA --
GO:0006898 receptor-mediated endocytosis IDA 14528014
GO:0008202 steroid metabolic process IEA --
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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for LDLRAP1 Gene



NURSA nuclear receptor signaling pathways regulating expression of LDLRAP1 Gene:

LDLRAP1

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.

Evidence on tissue expression from TISSUES for LDLRAP1 Gene

  • Nervous system(4.9)
  • Skin(2.7)
  • Pancreas(2.2)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LDLRAP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • skeleton
Organs:
Head and neck:
  • ear
  • eye
  • eyelid
  • face
  • head
Thorax:
  • heart
Abdomen:
  • duodenum
  • intestine
  • liver
  • small intestine
General:
  • blood
  • blood vessel
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with LDLRAP1: view

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 33 34
  • 99.23 (n)
cow
(Bos Taurus)
Mammalia LDLRAP1 33 34
  • 90.26 (n)
dog
(Canis familiaris)
Mammalia LDLRAP1 33 34
  • 89.61 (n)
mouse
(Mus musculus)
Mammalia Ldlrap1 33 16 34
  • 86.21 (n)
rat
(Rattus norvegicus)
Mammalia Ldlrap1 33
  • 85.67 (n)
oppossum
(Monodelphis domestica)
Mammalia LDLRAP1 34
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LDLRAP1 34
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves LDLRAP1 33 34
  • 71.13 (n)
lizard
(Anolis carolinensis)
Reptilia LDLRAP1 34
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ldlrap1 33
  • 65.8 (n)
Str.11033 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.8355 33
zebrafish
(Danio rerio)
Actinopterygii ldlrap1b 33 34
  • 67.88 (n)
ldlrap1a 34
  • 64 (a)
OneToMany
sbcb50 33
Species where no ortholog for LDLRAP1 was found in the sources mined by GeneCards:
  • 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
rs386629678 Hypercholesterolemia, autosomal recessive (ARH) [MIM:603813]
rs121908324 Pathogenic 25,543,763(+) GAGCT(A/C/G/T)GGGGG nc-transcript-variant, reference, missense, stop-gained
rs121908325 Pathogenic 25,557,214(+) AGAGC(C/T)AGCAC nc-transcript-variant, reference, stop-gained
rs121908326 Pathogenic 25,563,142(+) CCCCT(A/C/G)CTTGA intron-variant, nc-transcript-variant, reference, missense
rs1057515539 Likely benign 25,567,758(+) TCCCT(-/T)GCTCC intron-variant, nc-transcript-variant, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv480715 CNV novel sequence insertion 20440878

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

Human Gene Mutation Database (HGMD)
LDLRAP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LDLRAP1

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

Disorders for LDLRAP1 Gene

MalaCards: The human disease database

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

- 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 CK … Hobbs HH (Science (New York, N.Y.) 2001) 3 4 22 60
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60
  3. A novel Thr56Met mutation of the autosomal recessive hypercholesterolemia gene associated with hypercholesterolemia. (PMID: 20124734) Harada K … Morisaki T (Journal of atherosclerosis and thrombosis 2010) 3 4 60
  4. Prevalence and clinical features of heterozygous carriers of autosomal recessive hypercholesterolemia in Sardinia. (PMID: 19477448) Filigheddu F … Arca M (Atherosclerosis 2009) 3 45 60
  5. Autosomal recessive hypercholesterolemia in Spanish kindred due to a large deletion in the ARH gene. (PMID: 17686643) Quagliarini F … Arca M (Molecular genetics and metabolism 2007) 3 22 60

Products for LDLRAP1 Gene

Sources for LDLRAP1 Gene

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