其他名称： SORL1; C11orf32; Sortilin-related receptor; Low-density lipoprotein receptor relative with 11 ligand-binding repeats; LDLR relative with 11 ligand-binding repeats; LR11; SorLA-1; Sorting protein-related receptor containing LDLR class A repe
功能： disease:Genetic variations in SORL1 may be associated with increased risk for late onset Alzheimer disease (AD). Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death.,function:Likely 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.,PTM:The propeptide removed in the N-terminus may be cleaved by furin or homologous proteases.,similarity:Contains 1 EGF-like domain.,similarity:Contains 11 LDL-receptor class A domains.,similarity:Contains 5 BNR repeats.,similarity:Contains 5 LDL-receptor class B repeats.,similarity:Contains 6 fibronectin type-III domains.,tissue specificity:Expressed 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. 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.,
相关产品： YM0592,YM0591,RS0001,RS0002,YM3028,YM3029
细胞定位： Golgi apparatus membrane ; Single-pass type I membrane protein . Golgi apparatus, trans-Golgi network membrane ; Single-pass type I membrane protein . Endosome membrane ; Single-pass type I membrane protein . Early endosome membrane ; Single-pass type I membrane protein . Recycling endosome membrane ; Single-pass type I membrane protein . Endoplasmic reticulum membrane ; Single-pass type I membrane protein . Endosome, multivesicular body membrane ; Single-pass type I membrane protein . Cell membrane ; Single-pass type I membrane protein . Cytoplasmic vesicle, secretory vesicle membrane ; Single-pass type I membrane protein . Secreted . Mostly intracellular, predominantly in the trans-Golgi network (TGN) and in endosome, as well as in endosome-to-TGN retrograde vesicles; found at low levels on the plasma membrane (PubMed:11294867, PubMed:15053742, PubMed:17855360, PubMed:21994944, PubMed:21385844, PubMed:31138794). At the cell surface, partially subjected to proteolytic shedding that releases the ectodomain (also called soluble SORLA, solLR11 or sLR11) in the extracellular milieu (PubMed:11082041, PubMed:16393139, PubMed:16531402). The shedding may be catalyzed by ADAM17/TACE (PubMed:16393139). Following shedding, PSEN1/presenilin-1 cleaves the remaining transmembrane fragment and catalyzes the release of a C-terminal fragment in the cytosol and of a soluble N-terminal beta fragment in the extracellular milieu. The C-terminal cytosolic fragment localizes to the nucleus (PubMed:16531402). At the cell surface, the full-length protein undergoes partial clathrin-dependent endocytosis guided by clathrin adapter protein 2 (AP-2) (PubMed:11294867, PubMed:15053742, PubMed:17646382). .
组织表达： Highly expressed in brain (at protein level) (PubMed:9157966, PubMed:16174740, PubMed:21147781). Most abundant in the cerebellum, cerebral cortex and occipital pole; low levels in the putamen and thalamus (PubMed:9157966, PubMed:16174740). Expression is significantly reduced in the frontal cortex of patients suffering from Alzheimer disease (PubMed:16174740). Also expressed in spinal cord, spleen, testis, prostate, ovary, thyroid and lymph nodes (PubMed:9157966, PubMed:8940146).
其他名称： SORL1; C11orf32; Sortilin-related receptor; Low-density lipoprotein receptor relative with 11 ligand-binding repeats; LDLR relative with 11 ligand-binding repeats; LR11; SorLA-1; Sorting protein-related receptor containing LDLR class A repe
功能： disease:Genetic variations in SORL1 may be associated with increased risk for late onset Alzheimer disease (AD). Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death.,function:Likely 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.,PTM:The propeptide removed in the N-terminus may be cleaved by furin or homologous proteases.,similarity:Contains 1 EGF-like domain.,similarity:Contains 11 LDL-receptor class A domains.,similarity:Contains 5 BNR repeats.,similarity:Contains 5 LDL-receptor class B repeats.,similarity:Contains 6 fibronectin type-III domains.,tissue specificity:Expressed 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. 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.,
相关产品： YM0592,YM0591,RS0001,RS0002,YM3028,YM3029
细胞定位： Golgi apparatus membrane ; Single-pass type I membrane protein . Golgi apparatus, trans-Golgi network membrane ; Single-pass type I membrane protein . Endosome membrane ; Single-pass type I membrane protein . Early endosome membrane ; Single-pass type I membrane protein . Recycling endosome membrane ; Single-pass type I membrane protein . Endoplasmic reticulum membrane ; Single-pass type I membrane protein . Endosome, multivesicular body membrane ; Single-pass type I membrane protein . Cell membrane ; Single-pass type I membrane protein . Cytoplasmic vesicle, secretory vesicle membrane ; Single-pass type I membrane protein . Secreted . Mostly intracellular, predominantly in the trans-Golgi network (TGN) and in endosome, as well as in endosome-to-TGN retrograde vesicles; found at low levels on the plasma membrane (PubMed:11294867, PubMed:15053742, PubMed:17855360, PubMed:21994944, PubMed:21385844, PubMed:31138794). At the cell surface, partially subjected to proteolytic shedding that releases the ectodomain (also called soluble SORLA, solLR11 or sLR11) in the extracellular milieu (PubMed:11082041, PubMed:16393139, PubMed:16531402). The shedding may be catalyzed by ADAM17/TACE (PubMed:16393139). Following shedding, PSEN1/presenilin-1 cleaves the remaining transmembrane fragment and catalyzes the release of a C-terminal fragment in the cytosol and of a soluble N-terminal beta fragment in the extracellular milieu. The C-terminal cytosolic fragment localizes to the nucleus (PubMed:16531402). At the cell surface, the full-length protein undergoes partial clathrin-dependent endocytosis guided by clathrin adapter protein 2 (AP-2) (PubMed:11294867, PubMed:15053742, PubMed:17646382). .
组织表达： Highly expressed in brain (at protein level) (PubMed:9157966, PubMed:16174740, PubMed:21147781). Most abundant in the cerebellum, cerebral cortex and occipital pole; low levels in the putamen and thalamus (PubMed:9157966, PubMed:16174740). Expression is significantly reduced in the frontal cortex of patients suffering from Alzheimer disease (PubMed:16174740). Also expressed in spinal cord, spleen, testis, prostate, ovary, thyroid and lymph nodes (PubMed:9157966, PubMed:8940146).
在线咨询
湘公网安备