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Aliases for LDLRAP1 Gene

Aliases for LDLRAP1 Gene

  • Low Density Lipoprotein Receptor Adaptor Protein 1 2 3
  • ARH 3 4 6
  • Autosomal Recessive Hypercholesterolemia Protein 3 4
  • FHCB1 3 6
  • FHCB2 3 6
  • Low Density Lipoprotein Receptor Adapter Protein 1 3
  • LDL Receptor Adaptor Protein 3
  • ARH1 3
  • ARH2 3

External Ids for LDLRAP1 Gene

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 Endocytosis and Metabolism. GO annotations related to this gene include phosphatidylinositol-4,5-bisphosphate binding and clathrin 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

Genomic Location for LDLRAP1 Gene

Start:
25,543,580 bp from pter
End:
25,591,211 bp from pter
Size:
47,632 bases
Orientation:
Plus strand

Genomic View for LDLRAP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 for LDLRAP1 Gene

Protein Domains for LDLRAP1 Gene

UniProtKB/Swiss-Prot:

ARH_HUMAN
Domain:
  • The [DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif mediates interaction the AP-2 complex subunit AP2B1.:
    • Q5SW96
  • Contains 1 PID domain.:
    • Q5SW96
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: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

Phenotypes for LDLRAP1 Gene

MGI mutant phenotypes for LDLRAP1:
inferred from 2 alleles
genes like me logo Genes that share phenotypes with LDLRAP1: view

Animal Models for LDLRAP1 Gene

MGI Knock Outs for LDLRAP1:

miRNA for LDLRAP1 Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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 3
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for LDLRAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005769 early endosome IDA 14528014
GO:0005829 cytosol IDA 12451172
GO:0005883 neurofilament ISS 17727637
GO:0009898 cytoplasmic side of plasma membrane IDA 14528014
genes like me logo Genes that share ontologies with LDLRAP1: view

Pathways for LDLRAP1 Gene

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

Pathways by source for LDLRAP1 Gene

Gene Ontology (GO) - Biological Process for LDLRAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport NAS 12451172
GO:0006898 receptor-mediated endocytosis IDA 14528014
GO:0008203 cholesterol metabolic process NAS 12451172
GO:0009967 positive regulation of signal transduction IDA 12221107
GO:0031623 receptor internalization IMP 15166224
genes like me logo Genes that share ontologies with LDLRAP1: view

Compounds for LDLRAP1 Gene

(2) Novoseek inferred chemical compound relationships for LDLRAP1 Gene

Compound -log(P) Hits PubMed IDs
phosphotyrosine 63.5 4
cholesterol 40.5 1
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 (4.8) and Brain - Cerebellar Hemisphere (4.2).

Integrated Proteomics: protein expression 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 expressions with LDLRAP1: view

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 36
  • 99.23 (n)
  • 99.62 (a)
LDLRAP1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LDLRAP1 36
  • 90.26 (n)
  • 92.21 (a)
LDLRAP1 37
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LDLRAP1 36
  • 89.61 (n)
  • 93.18 (a)
LDLRAP1 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ldlrap1 36
  • 86.21 (n)
  • 89.9 (a)
Ldlrap1 16
Ldlrap1 37
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LDLRAP1 37
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LDLRAP1 37
  • 60 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ldlrap1 36
  • 85.67 (n)
  • 89.9 (a)
chicken
(Gallus gallus)
Aves LDLRAP1 36
  • 71.13 (n)
  • 74.51 (a)
LDLRAP1 37
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LDLRAP1 37
  • 89 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.8355 36
tropical clawed frog
(Silurana tropicalis)
Amphibia ldlrap1 36
  • 65.8 (n)
  • 72.55 (a)
Str.11033 36
zebrafish
(Danio rerio)
Actinopterygii ldlrap1a 37
  • 64 (a)
OneToMany
ldlrap1b 36
  • 67.88 (n)
  • 70.43 (a)
ldlrap1b 37
  • 71 (a)
OneToMany
sbcb50 36
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 MAF
rs7491 -- 25,568,747(-) CCAGC(A/G/T)TGGCT utr-variant-3-prime, intron-variant
rs10062 -- 25,568,785(-) CACAC(A/G)GACAG utr-variant-3-prime, intron-variant
rs11563 -- 25,568,362(-) GAAAG(A/C)GATTC utr-variant-3-prime, intron-variant
rs1137378 -- 25,568,132(+) TCTGA(A/C)CAAAA utr-variant-3-prime, intron-variant
rs1137469 -- 25,568,720(+) GGGTT(C/T)TGAGA utr-variant-3-prime, intron-variant

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

Variant ID Type Subtype PubMed ID
nsv870470 CNV Gain 21882294

Relevant External Links for LDLRAP1 Gene

HapMap Linkage Disequilibrium report
LDLRAP1
Human Gene Mutation Database (HGMD)
LDLRAP1
Locus Specific Mutation Databases (LSDB)
LDLRAP1

Disorders for LDLRAP1 Gene

(1) OMIM Diseases for LDLRAP1 Gene (605747)

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.

(6) Novoseek inferred disease relationships for LDLRAP1 Gene

Disease -log(P) Hits PubMed IDs
hypercholesterolemia, autosomal recessive 98.4 14
xanthomatosis 84.5 2
hypercholesterolemia familial 79.5 2
hypercholesterolemia 71.5 9
coronary artery disease 25.1 2

Relevant External Links for LDLRAP1

Genetic Association Database (GAD)
LDLRAP1
Human Genome Epidemiology (HuGE) Navigator
LDLRAP1
genes like me logo Genes that share disorders with LDLRAP1: view

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
  2. Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia. (PMID: 12016260) Al-Kateb H. … Luft F.C. (Circ. Res. 2002) 3 23
  3. Autosomal recessive hypercholesterolemia in a Sicilian kindred harboring the 432insA mutation of the ARH gene. (PMID: 12535754) Barbagallo C.M. … Averna M.R. (Atherosclerosis 2003) 3 23
  4. ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2. (PMID: 12221107) He G. … Cohen J.C. (J. Biol. Chem. 2002) 3 4
  5. Molecular mechanisms of autosomal recessive hypercholesterolemia. (PMID: 12417523) Wilund K.R. … Cohen J.C. (Hum. Mol. Genet. 2002) 3 4

Products for LDLRAP1 Gene

Sources for LDLRAP1 Gene

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