Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
6272 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Sortilin 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
SORT1 |
SynonymsGene synonyms aliases
|
Gp95, LDLCQ6, NT3, NTR3 |
ChromosomeChromosome number
|
1 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
1p13.3|1p21.3-p13.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
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 |
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
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, 24070898, 24128306, 25401472, 28541286, 32296183, 32814053 |
GO:0005764 |
Component |
Lysosome |
IDA |
28541286 |
GO:0005765 |
Component |
Lysosomal membrane |
IEA |
|
GO:0005769 |
Component |
Early endosome |
IDA |
11331584 |
GO:0005789 |
Component |
Endoplasmic reticulum membrane |
IEA |
|
GO:0005794 |
Component |
Golgi apparatus |
IBA |
21873635 |
GO:0005794 |
Component |
Golgi apparatus |
IDA |
11331584, 16787399, 18817523 |
GO:0005829 |
Component |
Cytosol |
IDA |
|
GO:0005886 |
Component |
Plasma membrane |
IDA |
11331584 |
GO:0005886 |
Component |
Plasma membrane |
NAS |
14985763 |
GO:0005905 |
Component |
Clathrin-coated pit |
IDA |
11331584 |
GO:0006622 |
Process |
Protein targeting to lysosome |
IEA |
|
GO:0006892 |
Process |
Post-Golgi vesicle-mediated transport |
IBA |
21873635 |
GO:0006895 |
Process |
Golgi to endosome transport |
IBA |
21873635 |
GO:0006895 |
Process |
Golgi to endosome transport |
IDA |
11331584 |
GO:0006897 |
Process |
Endocytosis |
IBA |
21873635 |
GO:0006897 |
Process |
Endocytosis |
IDA |
11331584, 21092856 |
GO:0007186 |
Process |
G protein-coupled receptor signaling pathway |
IMP |
18258592 |
GO:0007218 |
Process |
Neuropeptide signaling pathway |
IDA |
9756851 |
GO:0007275 |
Process |
Multicellular organism development |
IEA |
|
GO:0008333 |
Process |
Endosome to lysosome transport |
IDA |
11331584 |
GO:0008625 |
Process |
Extrinsic apoptotic signaling pathway via death domain receptors |
IDA |
14985763 |
GO:0009986 |
Component |
Cell surface |
IDA |
10085125 |
GO:0010008 |
Component |
Endosome membrane |
IDA |
18817523 |
GO:0010465 |
Function |
Nerve growth factor receptor activity |
IDA |
14985763 |
GO:0010468 |
Process |
Regulation of gene expression |
IMP |
18258592 |
GO:0014902 |
Process |
Myotube differentiation |
IMP |
18258592 |
GO:0016021 |
Component |
Integral component of membrane |
IBA |
21873635 |
GO:0016021 |
Component |
Integral component of membrane |
IDA |
15992544 |
GO:0016050 |
Process |
Vesicle organization |
IBA |
21873635 |
GO:0016050 |
Process |
Vesicle organization |
IDA |
15992544 |
GO:0019899 |
Function |
Enzyme binding |
IPI |
10085125 |
GO:0030136 |
Component |
Clathrin-coated vesicle |
IDA |
11331584 |
GO:0030140 |
Component |
Trans-Golgi network transport vesicle |
IEA |
|
GO:0030379 |
Function |
Neurotensin receptor activity, non-G protein-coupled |
IDA |
9756851 |
GO:0030425 |
Component |
Dendrite |
IEA |
|
GO:0030659 |
Component |
Cytoplasmic vesicle membrane |
IEA |
|
GO:0031410 |
Component |
Cytoplasmic vesicle |
IDA |
9756851 |
GO:0031965 |
Component |
Nuclear membrane |
IEA |
|
GO:0032509 |
Process |
Endosome transport via multivesicular body sorting pathway |
IDA |
11331584 |
GO:0032580 |
Component |
Golgi cisterna membrane |
IEA |
|
GO:0032868 |
Process |
Response to insulin |
IMP |
15992544 |
GO:0038180 |
Process |
Nerve growth factor signaling pathway |
IEA |
|
GO:0043025 |
Component |
Neuronal cell body |
IEA |
|
GO:0045599 |
Process |
Negative regulation of fat cell differentiation |
IEA |
|
GO:0046323 |
Process |
Glucose import |
IMP |
15992544 |
GO:0048011 |
Process |
Neurotrophin TRK receptor signaling pathway |
IMP |
14985763 |
GO:0048227 |
Process |
Plasma membrane to endosome transport |
IDA |
11331584 |
GO:0048406 |
Function |
Nerve growth factor binding |
IPI |
14985763 |
GO:0048471 |
Component |
Perinuclear region of cytoplasm |
IDA |
11331584 |
GO:0051005 |
Process |
Negative regulation of lipoprotein lipase activity |
IDA |
10085125 |
GO:0090160 |
Process |
Golgi to lysosome transport |
IDA |
16787399 |
GO:1904037 |
Process |
Positive regulation of epithelial cell apoptotic process |
IEA |
|
GO:1905394 |
Function |
Retromer complex binding |
IDA |
18817523 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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|
Protein
|
UniProt ID |
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 |
|
Sequence |
|
Sequence length |
831 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Cholestasis |
Cholestasis |
rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039 |
28453831 |
Coronary artery disease |
Coronary Artery Disease |
rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 |
21378990 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Cardiovascular diseases |
Cardiovascular Diseases |
|
25805502 |
Coronary arteriosclerosis |
Coronary Arteriosclerosis |
|
21378990 |
|