LMPD Database

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LMP005380

Record overview

LMPD IDLMP005380
Gene ID26119
SpeciesHomo sapiens (Human)
Gene Namelow density lipoprotein receptor adaptor protein 1
Gene SymbolLDLRAP1
SynonymsARH; ARH1; ARH2; FHCB1; FHCB2
Chromosome1
Map Location1p36-p35
SummaryThe protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD 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. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for LDLRAP1

Proteins

low density lipoprotein receptor adapter protein 1
Refseq ID:NP_056442
Protein GI:132626790
UniProt ID:Q5SW96
mRNA ID:NM_015627
Length:308
RefSeq Status:REVIEWED
MDALKSAGRALIRSPSLAKQSWGGGGRHRKLPENWTDTRETLLEGMLFSLKYLGMTLVEQPKGEELSAAAIKRIVATAKASGKKLQKVTLKVSPRGIILT
DNLTNQLIENVSIYRISYCTADKMHDKVFAYIAQSQHNQSLECHAFLCTKRKMAQAVTLTVAQAFKVAFEFWQVSKEEKEKRDKASQEGGDVLGARQDCT
PSLKSLVATGNLLDLEETAKAPLSTVSANTTNMDEVPRPQALSGSSVVWELDDGLDEAFSRLAQSRTNPQVLDTGLTAQDMHYAQCLSPVDWDKPDSSGT
EQDDLFSF