SORT1
entrez
6272
canonical
uniprot
Q99523
canonical
ensembl
ENSG00000134243
resolver
ensp
ENSP00000256637
resolver
ensp
ENSP00000438597
resolver
ensp
ENSP00000666477
resolver
genesymbol
SORT1
resolver
hgnc
HGNC:11186
resolver
uniprot
B4DWI3
resolver
uniprot
C0JYZ0
resolver
uniprot
Q8IZ49
resolver
uniprot_entry
SORT_HUMAN
resolver
uniprot_sec
B4DWI3
resolver
uniprot_sec
C0JYZ0
resolver
uniprot_sec
Q8IZ49
resolver
amino_acid_sequence
MERPWGAADGLSRWPHGLGLLLLLQLLPPSTLSQDRLDAPPPPAAPLPRWSGPIGVSWGLRAAAAGGAFPRGGRWRRSAPGEDEECGRVRDFVAKLANNTHQHVFDDLRGSVSLSWVGDSTGVILVLTTFHVPLVIMTFGQSKLYRSEDYGKNFKDITDLINNTFIRTEFGMAIGPENSGKVVLTAEVSGGSRGGRIFRSSDFAKNFVQTDLPFHPLTQMMYSPQNSDYLLALSTENGLWVSKNFGGKWEEIHKAVCLAKWGSDNTIFFTTYANGSCKADLGALELWRTSDLGKSFKTIGVKIYSFGLGGRFLFASVMADKDTTRRIHVSTDQGDTWSMAQLPSVGQEQFYSILAANDDMVFMHVDEPGDTGFGTIFTSDDRGIVYSKSLDRHLYTTTGGETDFTNVTSLRGVYITSVLSEDNSIQTMITFDQGGRWTHLRKPENSECDATAKNKNECSLHIHASYSISQKLNVPMAPLSEPNAVGIVIAHGSVGDAISVMVPDVYISDDGGYSWTKMLEGPHYYTILDSGGIIVAIEHSSRPINVIKFSTDEGQCWQTYTFTRDPIYFTGLASEPGARSMNISIWGFTESFLTSQWVSYTIDFKDILERNCEEKDYTIWLAHSTDPEDYEDGCILGYKEQFLRLRKSSVCQNGRDYVVTKQPSICLCSLEDFLCDFGYYRPENDSKCVEQPELKGHDLEFCLYGREEHLTTNGYRKIPGDKCQGGVNPVREVKDLKKKCTSNFLSPEKQNSKSNSVPIILAIVGLMLVTVVAGVLIVKKYVCGGRFLVHRYSVLQQHAEANGVDGVDALDTASHTNKSGYHDDSDEDLLE
uniprot
proteins
disease_involvement
DISEASE: Note=A common polymorphism located in a non-coding region between CELSR2 and PSRC1 alters a CEBP transcription factor binding site and is responsible for changes in hepatic expression of SORT1. Altered SORT1 expression in liver affects low density lipoprotein cholesterol levels in plasma and is associated with susceptibility to myocardial infarction. {ECO:0000269|PubMed:20686566}.
uniprot
proteins
function
FUNCTION: Functions as a sorting receptor in the Golgi compartment and as a clearance receptor on the cell surface. Required for protein transport from the Golgi apparatus to the lysosomes by a pathway that is independent of the mannose-6-phosphate receptor (M6PR). Lysosomal proteins bind specifically to the receptor in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelysosomal compartment where the low pH mediates the dissociation of the complex (PubMed:16787399). The receptor is then recycled back to the Golgi for another round of trafficking through its binding to the retromer. Also required for protein transport from the Golgi apparatus to the endosomes. Promotes neuronal apoptosis by mediating endocytosis of the proapoptotic precursor forms of BDNF (proBDNF) and NGFB (proNGFB). Also acts as a receptor for neurotensin. May promote mineralization of the extracellular matrix during osteogenic differentiation by scavenging extracellular LPL. Probably required in adipocytes for the formation of specialized storage vesicles containing the glucose transporter SLC2A4/GLUT4 (GLUT4 storage vesicles, or GSVs). These vesicles provide a stable pool of SLC2A4 and confer increased responsiveness to insulin. May also mediate transport from the endoplasmic reticulum to the Golgi. {ECO:0000269|PubMed:10085125, ECO:0000269|PubMed:11331584, ECO:0000269|PubMed:11390366, ECO:0000269|PubMed:12209882, ECO:0000269|PubMed:12598608, ECO:0000269|PubMed:14657016, ECO:0000269|PubMed:14985763, ECO:0000269|PubMed:15313463, ECO:0000269|PubMed:15930396, ECO:0000269|PubMed:15987945, ECO:0000269|PubMed:16787399, ECO:0000269|PubMed:18817523}.
uniprot
proteins
mass_dalton
92068
uniprot
proteins
mutagenesis
MUTAGEN 74..77; /note="RWRR->GWRA: Abrogates propeptide cleavage."; /evidence="ECO:0000269|PubMed:9927419"; MUTAGEN 76..77; /note="RR->GG: Abrogates propeptide cleavage."; /evidence="ECO:0000269|PubMed:9927419"; MUTAGEN 783; /note="C->S: Loss of palmitoylation. Decreased recycling from endosomes to the Golgi apparatus. Increased lysosomal degradation."; /evidence="ECO:0000269|PubMed:18817523"; MUTAGEN 792; /note="Y->A: Reduces endocytosis and Golgi to endosome sorting; when associated with A-795."; /evidence="ECO:0000269|PubMed:11331584"; MUTAGEN 795; /note="L->A: Reduces endocytosis and Golgi to endosome sorting; when associated with A-792."; /evidence="ECO:0000269|PubMed:11331584"; MUTAGEN 823..824; /note="DD->NN: Reduces interaction with GGA1."; /evidence="ECO:0000269|PubMed:11390366"; MUTAGEN 825; /note="S->A: Reduces interaction with GGA1."; /evidence="ECO:0000269|PubMed:11390366"; MUTAGEN 826..828; /note="DED->NQN: Abrogates interaction with GGA1 and impairs localization to the Golgi."; /evidence="ECO:0000269|PubMed:11390366"; MUTAGEN 829..830; /note="LL->AA: Abrogates interaction with GGA1 and impairs localization to the Golgi."; /evidence="ECO:0000269|PubMed:11331584, ECO:0000269|PubMed:11390366"; MUTAGEN 829..830; /note="Missing: Abrogates interaction with GGA2. Reduces endocytosis and Golgi to endosome sorting; when associated with A-792 and A-795."; /evidence="ECO:0000269|PubMed:11331584, ECO:0000269|PubMed:11390366
uniprot
proteins
post_translational_modification
PTM: The N-terminal propeptide is cleaved by furin and possibly other homologous proteases. {ECO:0000269|PubMed:12419319, ECO:0000269|PubMed:9927419}.; PTM: Palmitoylated (PubMed:18817523). Undergoes cysteine S-palmitoylation which promotes the partitioning of the receptor into an endosomal membrane subdomain where it can interact with the retromer cargo-selective complex which mediates its retrograde trafficking to the Golgi apparatus (PubMed:18817523). {ECO:0000269|PubMed:18817523}.; PTM: Phosphorylation at Ser-825 facilitates the interaction with GGA1. {ECO:0000269|PubMed:20015111}.
uniprot
proteins
protein_family
SORT1 subfamily
uniprot
proteins
protein_family
VPS10-related sortilin family
uniprot
proteins
pubmed
10085125
uniprot
proteins
pubmed
11331584
uniprot
proteins
pubmed
11390366
uniprot
proteins
pubmed
11859376
uniprot
proteins
pubmed
12209882
uniprot
proteins
pubmed
12419319
uniprot
proteins
pubmed
12598608
uniprot
proteins
pubmed
14657016
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14985763
uniprot
proteins
pubmed
15313463
uniprot
proteins
pubmed
15364913
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15930396
uniprot
proteins
pubmed
15987945
uniprot
proteins
pubmed
16263699
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16787399
uniprot
proteins
pubmed
18088087
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18817523
uniprot
proteins
pubmed
19122660
uniprot
proteins
pubmed
19349973
uniprot
proteins
pubmed
20015111
uniprot
proteins
pubmed
20048080
uniprot
proteins
pubmed
20686565
uniprot
proteins
pubmed
20686566
uniprot
proteins
pubmed
21092856
uniprot
proteins
pubmed
21102451
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22431521
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
9013611
uniprot
proteins
pubmed
9657377
uniprot
proteins
pubmed
9756851
uniprot
proteins
pubmed
9927419
uniprot
proteins
sequence_length
831
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane {ECO:0000269|PubMed:16787399, ECO:0000269|PubMed:18817523}; Single-pass type I membrane protein {ECO:0000305}. Endosome membrane {ECO:0000269|PubMed:18817523}; Single-pass type I membrane protein {ECO:0000305}. Endoplasmic reticulum membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Nucleus membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Cell membrane; Single-pass type I membrane protein; Extracellular side. Lysosome membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Note=Localized to membranes of the endoplasmic reticulum, endosomes, Golgi stack, lysosomes and nucleus. A small fraction of the protein is also localized to the plasma membrane. May also be found in SLC2A4/GLUT4 storage vesicles (GSVs) in adipocytes. Localization to the plasma membrane in adipocytes may be enhanced by insulin.
uniprot
proteins
transmembrane_region
TRANSMEM 756..778; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins