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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Low density lipoprotein receptor adaptor protein 1
Protein classi
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
1
Cytoband
p36.11
Chromosome location (bp)
25543606 - 25568886
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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)....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
The 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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Q5SW96 [Direct mapping] Low density lipoprotein receptor adapter protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Cardiovascular diseases Vascular diseases Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001540[amyloid-beta binding] GO:0001784[phosphotyrosine residue binding] GO:0005515[protein binding] GO:0005546[phosphatidylinositol-4,5-bisphosphate binding] GO:0005737[cytoplasm] GO:0005769[early endosome] GO:0005829[cytosol] GO:0005883[neurofilament] GO:0005886[plasma membrane] GO:0006629[lipid metabolic process] GO:0006897[endocytosis] GO:0006898[receptor-mediated endocytosis] GO:0008202[steroid metabolic process] GO:0008203[cholesterol metabolic process] GO:0009898[cytoplasmic side of plasma membrane] GO:0009925[basal plasma membrane] GO:0030159[signaling receptor complex adaptor activity] GO:0030276[clathrin binding] GO:0030301[cholesterol transport] GO:0030424[axon] GO:0030669[clathrin-coated endocytic vesicle membrane] GO:0031623[receptor internalization] GO:0034383[low-density lipoprotein particle clearance] GO:0035591[signaling adaptor activity] GO:0035612[AP-2 adaptor complex binding] GO:0035615[clathrin adaptor activity] GO:0035650[AP-1 adaptor complex binding] 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:0050750[low-density lipoprotein particle receptor binding] GO:0055037[recycling endosome] GO:0071345[cellular response to cytokine stimulus] GO:0090118[receptor-mediated endocytosis involved in cholesterol transport] GO:0090205[positive regulation of cholesterol metabolic process] GO:1903076[regulation of protein localization to plasma membrane] GO:1904707[positive regulation of vascular associated smooth muscle cell proliferation] GO:1905581[positive regulation of low-density lipoprotein particle clearance] GO:1905602[positive regulation of receptor-mediated endocytosis involved in cholesterol transport]
The Human Protein Atlas project is funded
