Low-density lipoprotein receptor adapter protein 1

Low-density lipoprotein receptor adapter protein 1 is a protein that in humans is encoded by the LDLRAP1 gene.^[5]

LDLRAP1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2G30
Identifiers
Aliases	LDLRAP1, ARH, ARH1, ARH2, FHCB1, FHCB2, low density lipoprotein receptor adaptor protein 1, FHCL4
External IDs	OMIM: 605747; MGI: 2140175; HomoloGene: 9219; GeneCards: LDLRAP1; OMA:LDLRAP1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p36.11 Start 25,543,606 bp[1] End 25,568,886 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 D3 Start 134,468,865 bp[2] End 134,495,335 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in cerebellar hemisphere right hemisphere of cerebellum C1 segment granulocyte spleen endothelial cell lymph node body of pancreas hair follicle islet of Langerhans Top expressed in otic vesicle saccule otic placode granulocyte molar lip lumbar subsegment of spinal cord tibiofemoral joint conjunctival fornix calvaria More reference expression data BioGPS More reference expression data
Gene ontology Molecular function AP-2 adaptor complex binding clathrin adaptor activity phosphotyrosine residue binding clathrin binding amyloid-beta binding signaling adaptor activity low-density lipoprotein particle receptor binding protein binding phosphatidylinositol-4,5-bisphosphate binding signaling receptor complex adaptor activity AP-1 adaptor complex binding Cellular component cytoplasm AP-1 adaptor complex recycling endosome cytosol basal plasma membrane cytoplasmic side of plasma membrane AP-2 adaptor complex neurofilament axon early endosome plasma membrane clathrin-coated vesicle membrane Biological process positive regulation of receptor-mediated endocytosis steroid metabolic process endocytosis receptor-mediated endocytosis involved in cholesterol transport lipid metabolism receptor internalization amyloid precursor protein metabolic process receptor-mediated endocytosis positive regulation of cholesterol metabolic process cholesterol homeostasis regulation of protein binding cholesterol metabolic process positive regulation of signal transduction low-density lipoprotein particle clearance membrane organization positive regulation of receptor-mediated endocytosis involved in cholesterol transport regulation of protein localization to plasma membrane cholesterol transport cellular response to cytokine stimulus positive regulation of vascular associated smooth muscle cell proliferation positive regulation of low-density lipoprotein particle clearance Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 26119 100017 Ensembl ENSG00000157978 ENSMUSG00000037295 UniProt Q5SW96 Q8C142 RefSeq (mRNA) NM_015627 NM_145554 RefSeq (protein) NP_056442 NP_663529 Location (UCSC) Chr 1: 25.54 – 25.57 Mb Chr 4: 134.47 – 134.5 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTB) domain. The PTB 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.^[5]

Interactions

LDLRAP1 has been shown to interact with AP2B1^[6][7] and LRP2.^[8]