Gene Gene information from NCBI Gene database.
Entrez ID 6272
Gene name Sortilin 1
Gene symbol SORT1
Synonyms (NCBI Gene)
Gp95LDLCQ6NT3NTR3
Chromosome 1
Chromosome location 1p13.3|1p21.3-p13.1
Summary This gene encodes a member of the VPS10-related sortilin family of proteins. The encoded preproprotein is proteolytically processed by furin to generate the mature receptor. This receptor plays a role in the trafficking of different proteins to either the
miRNA miRNA information provided by mirtarbase database.
461
miRTarBase ID miRNA Experiments Reference
MIRT025550 hsa-miR-34a-5p Proteomics 21566225
MIRT046808 hsa-miR-222-3p CLASH 23622248
MIRT045915 hsa-miR-125b-5p CLASH 23622248
MIRT439561 hsa-miR-218-5p HITS-CLIP 23212916
MIRT439560 hsa-miR-376a-3p HITS-CLIP 24374217
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
66
GO ID Ontology Definition Evidence Reference
GO:0001503 Process Ossification IEA
GO:0005515 Function Protein binding IPI 10085125, 11390366, 14985763, 16787399, 18687776, 19122660, 20584990, 20676133, 21092856, 21102451, 21949853, 22431521, 23236149, 23283322, 24070898, 24128306, 25401472, 28541286, 32296183, 32814053
GO:0005634 Component Nucleus IEA
GO:0005764 Component Lysosome IDA 28541286
GO:0005764 Component Lysosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602458 11186 ENSG00000134243
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99523
Protein name Sortilin (100 kDa NT receptor) (Glycoprotein 95) (Gp95) (Neurotensin receptor 3) (NT3) (NTR3)
Protein 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 recept
PDB 3F6K , 3G2U , 3G2V , 4MSL , 4N7E , 4PO7 , 5MRH , 5MRI , 6EHO , 6X3L , 6X48 , 6X4H , 8T8R , 8T8S
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15902 Sortilin-Vps10 142 572 Sortilin, neurotensin receptor 3, Domain
PF15901 Sortilin_C 574 740 Sortilin, neurotensin receptor 3, C-terminal Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in brain and prostate (at protein level). Expressed at high levels in brain, spinal cord, heart, skeletal muscle, thyroid, placenta and testis. Expressed at lower levels in lymphoid organs, kidney, colon and liver. {ECO:00002
Sequence
MERPWGAADGLSRWPHGLGLLLLLQLLPPSTLSQDRLDAPPPPAAPLPRWSGPIGVSWGL
RAAAAGGAFPRGGRWRRSAPGEDEECGRVRDFVAKLANNTHQHVFDDLRGSVSLSWVGDS
TGVILVLTTFHVPLVIMTFGQSKLYRSEDYGKNFKDITDLINNTFIRTEFGMAIGPENSG
KVVLTAEVSGGSRGGRIFRSSDFAKNFVQTDLPFHPLTQMMYSPQNSDYLLALSTENGLW
VSKNFGGKWEEIHKAVCLAKWGSDNTIFFTTYANGSCKADLGALELWRTSDLGKSFKTIG
VKIYSFGLGGRFLFASVMADKDTTRRIHVSTDQGDTWSMAQLPSVGQEQFYSILAANDDM
VFMHVDEPGDTGFGTIFTSDDRGIVYSKSLDRHLYTTTGGETDFTNVTSLRGVYITSVLS
EDNSIQTMITFDQGGRWTHLRKPENSECDATAKNKNECSLHIHASYSISQKLNVPMAPLS
EPNAVGIVIAHGSVGDAISVMVPDVYISDDGGYSWTKMLEGPHYYTILDSGGIIVAIEHS
SRPINVIKFSTDEGQCWQTYTFTRDPIYFTGL
ASEPGARSMNISIWGFTESFLTSQWVSY
TIDFKDILERNCEEKDYTIWLAHSTDPEDYEDGCILGYKEQFLRLRKSSVCQNGRDYVVT
KQPSICLCSLEDFLCDFGYYRPENDSKCVEQPELKGHDLEFCLYGREEHLTTNGYRKIPG
DKCQGGVNPVREVKDLKKKC
TSNFLSPEKQNSKSNSVPIILAIVGLMLVTVVAGVLIVKK
YVCGGRFLVHRYSVLQQHAEANGVDGVDALDTASHTNKSGYHDDSDEDLLE
Sequence length 831
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Lysosome
Neurotrophin signaling pathway
Cholesterol metabolism
  Golgi Associated Vesicle Biogenesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHOLESTASIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenoma Adenoma BEFREE 18624930, 29037860
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma LHGDN 18624930
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 18938222, 23595767, 23673467, 27392867, 30909233 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alzheimer Disease Alzheimer disease Pubtator 21245145 Stimulate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alzheimer Disease Alzheimer disease Pubtator 27392867 Inhibit
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alzheimer disease, familial, type 3 Alzheimer disease BEFREE 21245145
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 29690919
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 22361451
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis, Familial Amyotrophic lateral sclerosis BEFREE 22361451
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 30454027
★☆☆☆☆
Found in Text Mining only