NP_056442.2
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
33,885 Da
NCBI Official Full Name
low density lipoprotein receptor adapter protein 1
NCBI Official Synonym Full Names
low density lipoprotein receptor adaptor protein 1
NCBI Protein Information
low density lipoprotein receptor adapter protein 1
UniProt Protein Name
Low density lipoprotein receptor adapter protein 1
UniProt Synonym Protein Names
Autosomal recessive hypercholesterolemia protein
UniProt Synonym Gene Names
UniProt Entry Name
ARH_HUMAN
NCBI Summary for LDLRAP1
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]
UniProt Comments for LDLRAP1
LDLRAP1: 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. Defects in LDLRAP1 are the cause of autosomal recessive hypercholesterolemia (ARH). ARH is a disorder caused by defective internalization of LDL receptors (LDLR) in the liver. ARH has the clinical features of familial hypercholesterolemia (FH) homozygotes, including severely elevated plasma LDL cholesterol, tuberous and tendon xanthomata, and premature atherosclerosis. LDL receptor (LDLR) activity measured in skin fibroblasts is normal, as the LDL binding ability.
Chromosomal Location of Human Ortholog: 1p36.11
Cellular Component: AP-1 adaptor complex; AP-2 adaptor complex; axon; basal plasma membrane; cytosol; early endosome; internal side of plasma membrane; neurofilament; recycling endosome
Molecular Function: beta-amyloid binding; clathrin binding; low-density lipoprotein receptor binding; phosphatidylinositol-4,5-bisphosphate binding; phosphotyrosine binding; protein binding; receptor signaling complex scaffold activity
Biological Process: amyloid precursor protein metabolic process; cholesterol homeostasis; cholesterol metabolic process; positive regulation of receptor-mediated endocytosis; positive regulation of signal transduction; receptor internalization; receptor-mediated endocytosis; regulation of protein binding; transport
Disease: Hypercholesterolemia, Autosomal Recessive
Research Articles on LDLRAP1
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Products associated with LDLRAP1 blocking peptide
Pathways associated with LDLRAP1 blocking peptide
Diseases associated with LDLRAP1 blocking peptide
Organs/Tissues associated with LDLRAP1 blocking peptide
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