Gene Information
Gene NameSORL1
OrganismHomo sapiens (Human)
Gene Length2214
Protein NamesSortilin-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 repeats) (SorLA)
Target NameNA
Target TypeNA
Gene Age1488 ( ENSG00000137642 )
Evolutionary StageEukaryota
AlphaFoldDBQ92673
Gene CardSORL1
Uniprot IDQ92673
PfamPF00041; PF00057; PF00058; PF15902; PF15901
In ASDno
Allosteric Predictionno (-0.264960986)
Ortholog in AnimalsAlpaca_ SORL1 ( ortholog_one2one )
Dog_ SORL1 ( ortholog_one2one )
GuineaPig_ SORL1 ( ortholog_one2one )
Macaque_ SORL1 ( ortholog_one2one )
Mouse_ Sorl1 ( ortholog_one2one )
Pig_ SORL1 ( ortholog_one2one )
Rat_ Sorl1 ( ortholog_one2one )
Rabbit_ SORL1 ( ortholog_one2one )
OhnologsNA
ParalogsSORT1, SORCS1, SORCS3, SORCS2
TissueNA
Tissue SpecificityHighly 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). {ECO:0000269|PubMed:16174740, ECO:0000269|PubMed:21147781, ECO:0000269|PubMed:8940146, ECO:0000269|PubMed:9157966}.
Pharmacological Animal ModelsNULL(Chimpanzee);NULL(Mouse);NULL(Rat);0.04(Rabbit)
Gene Ontology
(biological process)
Gene Ontology
(cellular component)
Gene Ontology
(molecular function)
PDB 2DM4  (NMR  -  )  3G2S  (X-ray  1.70A  )  3G2T  (X-ray  2.00A  )  3WSX  (X-ray  2.35A  )  3WSY  (X-ray  3.11A  )  3WSZ  (X-ray  3.20A  ) 
DBSNP rs2298813  rs377498269  rs1699107  rs747306346  rs1565352546  rs1792120  rs766895956 
Subcellular location [CC]Golgi apparatus membrane {ECO:0000269|PubMed:11294867, ECO:0000269|PubMed:16174740, ECO:0000269|PubMed:17855360, ECO:0000269|PubMed:21385844, ECO:0000269|PubMed:21994944};
Single-pass type I membrane protein {ECO:0000305}. Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:17646382, ECO:0000269|PubMed:21385844, ECO:0000269|PubMed:23333276};
Single-pass type I membrane protein {ECO:0000305}. Endosome membrane {ECO:0000269|PubMed:21385844, ECO:0000269|PubMed:23333276};
Single-pass type I membrane protein {ECO:0000305}. Early endosome membrane {ECO:0000269|PubMed:16174740, ECO:0000269|PubMed:17646382, ECO:0000269|PubMed:21385844, ECO:0000269|PubMed:31138794};
Single-pass type I membrane protein {ECO:0000305}. Recycling endosome membrane {ECO:0000269|PubMed:17855360, ECO:0000269|PubMed:31138794};
Single-pass type I membrane protein {ECO:0000305}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:17855360, ECO:0000269|PubMed:21385844};
Single-pass type I membrane protein {ECO:0000305}. Endosome, multivesicular body membrane {ECO:0000269|PubMed:21385844, ECO:0000269|PubMed:23333276};
Single-pass type I membrane protein {ECO:0000305}. Cell membrane {ECO:0000269|PubMed:11294867, ECO:0000269|PubMed:14764453, ECO:0000269|PubMed:15053742, ECO:0000269|PubMed:17855360, ECO:0000269|PubMed:21385844, ECO:0000269|PubMed:21994944, ECO:0000269|PubMed:31138794};
Single-pass type I membrane protein {ECO:0000305}. Cytoplasmic vesicle, secretory vesicle membrane {ECO:0000269|PubMed:21994944};
Single-pass type I membrane protein {ECO:0000305}. Secreted {ECO:0000269|PubMed:11082041, ECO:0000269|PubMed:14764453, ECO:0000269|PubMed:15053742, ECO:0000269|PubMed:16393139, ECO:0000269|PubMed:16531402}. Note=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). {ECO:0000269|PubMed:11082041, ECO:0000269|PubMed:11294867, ECO:0000269|PubMed:15053742, ECO:0000269|PubMed:16393139, ECO:0000269|PubMed:16531402, ECO:0000269|PubMed:17646382, ECO:0000269|PubMed:17855360, ECO:0000269|PubMed:21385844, ECO:0000269|PubMed:21994944, ECO:0000269|PubMed:31138794}.
Mouse PG classificationNA
click here to return to the previous page