InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LDLRAP1

Summary

InnateDB Protein

IDBP-94357.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LDLRAP1

Protein Name

low density lipoprotein receptor adaptor protein 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000363458

InnateDB Gene

IDBG-94355 (LDLRAP1)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:15728179}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:12451172}.

Disease Associations

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:0000269PubMed:11326085}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	10 [view]
Protein-Protein	10 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001540	beta-amyloid binding
GO:0001784	phosphotyrosine binding
GO:0005515	protein binding
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding
GO:0030159	receptor signaling complex scaffold activity
GO:0030276	clathrin binding
GO:0035591	signaling adaptor activity
GO:0035612	AP-2 adaptor complex binding
GO:0035615	clathrin adaptor activity
GO:0050750	low-density lipoprotein particle receptor binding

Biological Process

GO:0006810	transport
GO:0006898	receptor-mediated endocytosis
GO:0008203	cholesterol metabolic process
GO:0009967	positive regulation of signal transduction
GO:0031623	receptor internalization
GO:0042632	cholesterol homeostasis
GO:0042982	amyloid precursor protein metabolic process
GO:0043393	regulation of protein binding
GO:0048260	positive regulation of receptor-mediated endocytosis
GO:0090003	regulation of establishment of protein localization to plasma membrane
GO:0090118	receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport
GO:0090205	positive regulation of cholesterol metabolic process

Cellular Component

GO:0005737	cytoplasm
GO:0005769	early endosome
GO:0005829	cytosol
GO:0005883	neurofilament
GO:0009898	cytoplasmic side of plasma membrane
GO:0009925	basal plasma membrane
GO:0030121	AP-1 adaptor complex
GO:0030122	AP-2 adaptor complex
GO:0030424	axon
GO:0055037	recycling endosome