LMPD Database

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LMP005380

UniProt Annotations

Entry Information
Gene Namelow density lipoprotein receptor adaptor protein 1
Protein EntryARH_HUMAN
UniProt IDQ5SW96
SpeciesHuman
Comments
Comment typeDescription
DiseaseHypercholesterolemia, 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.
DomainThe [DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif mediates interaction the AP-2 complex subunit AP2B1. {ECO:0000269|PubMed:16516836}.
FunctionAdapter 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:0000269|PubMed:15728179}.
InteractionP63010:AP2B1; NbExp=3; IntAct=EBI-747813, EBI-432924;
SimilarityContains 1 PID domain. {ECO:0000255|PROSITE- ProRule:PRU00148}.
Subcellular LocationCytoplasm {ECO:0000269|PubMed:12451172}.
SubunitInteracts 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). {ECO:0000250}.
Tissue SpecificityExpressed at high levels in the kidney, liver, and placenta, with lower levels detectable in brain, heart, muscle, colon, spleen, intestine, lung, and leukocytes.