LDLRAP1
entrez
26119
canonical
uniprot
Q5SW96
canonical
ensembl
ENSG00000157978
resolver
ensp
ENSP00000363458
resolver
ensp
ENSP00000520715
resolver
ensp
ENSP00000520726
resolver
ensp
ENSP00000564981
resolver
ensp
ENSP00000787403
resolver
ensp
ENSP00000787404
resolver
ensp
ENSP00000787405
resolver
ensp
ENSP00000794233
resolver
enst
ENST00000374338
resolver
enst
ENST00000718277
resolver
enst
ENST00000718288
resolver
genesymbol
LDLRAP1
resolver
genesymbol_syn
ARH
resolver
hgnc
HGNC:18640
resolver
uniprot
A0ABB0MVA8
resolver
uniprot
A0ABB0MVB1
resolver
uniprot
A2BHI5
resolver
uniprot
B3KR97
resolver
uniprot
Q6TQS9
resolver
uniprot
Q8N2Y0
resolver
uniprot
Q9UFI9
resolver
uniprot_entry
A0ABB0MVA8_HUMAN
resolver
uniprot_entry
A0ABB0MVB1_HUMAN
resolver
uniprot_entry
ARH_HUMAN
resolver
uniprot_entry
B3KR97_HUMAN
resolver
uniprot_sec
A2BHI5
resolver
uniprot_sec
Q6TQS9
resolver
uniprot_sec
Q8N2Y0
resolver
uniprot_sec
Q9UFI9
resolver
amino_acid_sequence
MDALKSAGRALIRSPSLAKQSWGGGGRHRKLPENWTDTRETLLEGMLFSLKYLGMTLVEQPKGEELSAAAIKRIVATAKASGKKLQKVTLKVSPRGIILTDNLTNQLIENVSIYRISYCTADKMHDKVFAYIAQSQHNQSLECHAFLCTKRKMAQAVTLTVAQAFKVAFEFWQVSKEEKEKRDKASQEGGDVLGARQDCTPSLKSLVATGNLLDLEETAKAPLSTVSANTTNMDEVPRPQALSGSSVVWELDDGLDEAFSRLAQSRTNPQVLDTGLTAQDMHYAQCLSPVDWDKPDSSGTEQDDLFSF
uniprot
proteins
disease_involvement
DISEASE: Hypercholesterolemia, familial, 4 (FHCL4) [MIM:603813]: A form of hypercholesterolemia, a disorder of lipoprotein metabolism characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. FHCL4 inheritance is autosomal recessive. {ECO:0000269|PubMed:11326085}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 endocytosis 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. Required for trafficking of LRP2 to the endocytic recycling compartment which is necessary for LRP2 proteolysis, releasing a tail fragment which translocates to the nucleus and mediates transcriptional repression (By similarity). {ECO:0000250|UniProtKB:D3ZAR1, ECO:0000269|PubMed:15728179}.
uniprot
proteins
mass_dalton
33885
uniprot
proteins
mutagenesis
MUTAGEN 165; /note="F->A: Abolishes LDLR cytoplasmic tail binding."; /evidence="ECO:0000269|PubMed:12221107"; MUTAGEN 165; /note="F->V: Abolishes LDLR cytoplasmic tail binding."; /evidence="ECO:0000269|PubMed:12221107"; MUTAGEN 212..213; /note="LL->AA: Abolishes clathrin binding."; /evidence="ECO:0000269|PubMed:12221107"; MUTAGEN 214; /note="D->A: Abolishes clathrin binding."; /evidence="ECO:0000269|PubMed:12221107"; MUTAGEN 216; /note="E->A: Abolishes clathrin binding."; /evidence="ECO:0000269|PubMed:12221107"; MUTAGEN 256; /note="D->R: Abolishes interaction with AP2B1."; /evidence="ECO:0000269|PubMed:16903783"; MUTAGEN 266; /note="R->A: Abolishes AP-2 complex binding."; /evidence="ECO:0000269|PubMed:12221107
uniprot
proteins
pubmed
11326085
uniprot
proteins
pubmed
12221107
uniprot
proteins
pubmed
12417523
uniprot
proteins
pubmed
12451172
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15728179
uniprot
proteins
pubmed
16516836
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16903783
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20124734
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
sequence_length
308
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12451172}.
uniprot
proteins