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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 cell surface, or subcellular compartments such as lysosomes and endosomes. Expression levels of this gene may influence the risk of myocardial infarction in human patients. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
SORT1 (Sortilin 1) is a Protein Coding gene. Diseases associated with SORT1 include Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 and Myocardial Infarction. Among its related pathways are Lysosome and Clathrin derived vesicle budding. Gene Ontology (GO) annotations related to this gene include enzyme binding and nerve growth factor receptor activity. An important paralog of this gene is SORL1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 10085125 |
GO:0010465 | nerve growth factor receptor activity | IDA | 14985763 |
GO:0019899 | enzyme binding | IPI | 10085125 |
GO:0030379 | neurotensin receptor activity, non-G protein-coupled | IDA | 9756851 |
GO:0048406 | nerve growth factor binding | IPI | 14985763 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005764 | lysosome | IEA,IDA | 28541286 |
GO:0005765 | lysosomal membrane | IEA | -- |
GO:0005768 | endosome | IEA | -- |
GO:0005769 | early endosome | IDA | 11331584 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Clathrin derived vesicle budding | ||
2 | Development HGF signaling pathway |
Development Neurotrophin family signaling
.44
|
|
3 | Vesicle-mediated transport | ||
4 | Statin Pathway | ||
5 | Lysosome |
-
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001503 | ossification | IEA | -- |
GO:0006622 | protein targeting to lysosome | IEA | -- |
GO:0006892 | post-Golgi vesicle-mediated transport | IBA | 21873635 |
GO:0006895 | Golgi to endosome transport | IDA | 11331584 |
GO:0006897 | endocytosis | IBA,IDA | 11331584 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Mannose 6-phosphate | Investigational | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
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This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SORT1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SORT1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SORT1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Sort1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Sort1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | SORT1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SORT1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SORT1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sort1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.17947 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | sort1a 30 31 |
|
OneToMany | |
sort1b 31 |
|
OneToMany | |||
SORT1 (2 of 3) 31 |
|
OneToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
PEP1 31 |
|
ManyToMany | |||
VTH1 31 |
|
ManyToMany | |||
VTH2 31 33 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.4778 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
737274 | Likely Benign: not provided | 109,369,563(-) | T/C | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
784954 | Benign: not provided | 109,355,359(-) | A/T | INTRON_VARIANT | |
786468 | Benign: not provided | 109,316,863(-) | C/T | MISSENSE_VARIANT | |
789875 | Benign: not provided | 109,342,050(-) | C/A | MISSENSE_VARIANT | |
rs12740374 | Association: Low density lipoprotein cholesterol level quantitative trait locus 6 | 109,274,968(-) | G/T | THREE_PRIME_UTR_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv252n100 | CNV | gain | 25217958 |
esv3567303 | CNV | deletion | 23714750 |
nsv1003653 | CNV | gain | 25217958 |
nsv1118121 | CNV | deletion | 24896259 |
nsv951390 | CNV | duplication | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
low density lipoprotein cholesterol level quantitative trait locus 6 |
|
|
myocardial infarction |
|
|
fabry disease |
|
|
frontotemporal dementia |
|
|
mucolipidosis ii alpha/beta |
|
|