LMPD Database

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LMP006687

UniProt Annotations

Entry Information
Gene Namesortilin-related receptor, L(DLR class) A repeats containing
Protein EntrySORL_HUMAN
UniProt IDQ92673
SpeciesHuman
Comments
Comment typeDescription
DiseaseAlzheimer disease (AD) [MIM
FunctionLikely to be a multifunctional endocytic receptor, that may be implicated in the uptake of lipoproteins and of proteases. Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. Binds the receptor- associated protein (RAP). Could play a role in cell-cell interaction. Involved in APP trafficking to and from the Golgi apparatus. It probably acts as a sorting receptor that protects APP from trafficking to late endosome and from processing into amyloid beta, thereby reducing the burden of amyloidogenic peptide formation. Involved in the regulation of smooth muscle cells migration, probably through PLAUR binding and decreased internalization. {ECO
PtmThe propeptide removed in the N-terminus may be cleaved by furin or homologous proteases.
SimilarityBelongs to the VPS10-related sortilin family. SORL1 subfamily.
SimilarityContains 11 LDL-receptor class A domains.
SimilarityContains 1 EGF-like domain.
SimilarityContains 5 BNR repeats.
SimilarityContains 5 LDL-receptor class B repeats.
SimilarityContains 6 fibronectin type-III domains.
Subcellular LocationMembrane ; Single-pass type I membrane protein . Golgi apparatus. Endosome. Secreted.
SubunitInteracts with GGA1 and ROCK2. Interacts with PLAUR. Interacts with APP. {ECO
Tissue SpecificityExpressed mainly in brain, where it is most abundant in the cerebellum, cerebral cortex and the occipital pole; low expression in the putamen and the thalamus. Expression is significantly reduced in the frontal cortex of patients suffering from Alzheimer disease. According to PubMed:9157966, found in spinal cord, testis, liver, kidney and pancreas with detectable levels in placenta, lung and heart. According to PubMed:8940146, expressed in the prostate, ovary, thyroid and spleen, but not found in kidney, liver, lung, skeletal muscle, bone marrow and adrenals.