Low-density lipoprotein receptor adapter protein 1

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)
End	25,568,886 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	134,495,335 bp
RNA expression pattern
	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
	; ;
	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
	26119
	100017
	ENSG00000157978
	ENSMUSG00000037295
	Q5SW96
	Q8C142
	NM_015627
	NM_145554
	NP_056442
	NP_663529
	Wikidata
View/Edit Human	View/Edit Mouse

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

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.