| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
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. SUBUNIT: Interacts 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). SUBCELLULAR LOCATION: Cytoplasm. 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. DOMAIN: The [DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif mediates interaction the AP-2 complex subunit AP2B1. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in LDLRAP1 are the cause of autosomal recessive hypercholesterolemia (ARH) [MIM:603813]. ARH is a disorder caused by defective internalization of LDL receptors (LDLR) in the liver. ARH has the clinical features of familial hypercholesterolemia (FH) [MIM:143890] 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. SIMILARITY: Contains 1 PID domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LDLRAP1"; GENE SYNONYMS:LDLRAP1 ARH. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 308 AA; 33885 MW; DE83168CB328D2A7 CRC64;
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| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:18640,
urn:biopax:RelationshipXref:NCBI GENE_26119,
urn:biopax:RelationshipXref:REFSEQ_NP_056442,
urn:biopax:UnificationXref:UNIPROT_A2BHI5,
urn:biopax:UnificationXref:UNIPROT_Q5SW96,
urn:biopax:UnificationXref:UNIPROT_Q6TQS9,
urn:biopax:UnificationXref:UNIPROT_Q8N2Y0,
urn:biopax:UnificationXref:UNIPROT_Q9UFI9
|
| biopax3:displayName |
ARH_HUMAN
|
| biopax3:name |
Autosomal recessive hypercholesterolemia protein,
LDLRAP1
|
| biopax3:entityFeature | |
| biopax3:organism | |
| biopax3:sequence |
MDALKSAGRALIRSPSLAKQSWGGGGRHRKLPENWTDTRETLLEGMLFSLKYLGMTLVEQPKGEELSAAAIKRIVATAKASGKKLQKVTLKVSPRGIILTDNLTNQLIENVSIYRISYCTADKMHDKVFAYIAQSQHNQSLECHAFLCTKRKMAQAVTLTVAQAFKVAFEFWQVSKEEKEKRDKASQEGGDVLGARQDCTPSLKSLVATGNLLDLEETAKAPLSTVSANTTNMDEVPRPQALSGSSVVWELDDGLDEAFSRLAQSRTNPQVLDTGLTAQDMHYAQCLSPVDWDKPDSSGTEQDDLFSF
|
| biopax3:standardName |
Low density lipoprotein receptor adapter protein 1
|