SORCS1

Gene Information
 
Gene Symbol
SORCS1
 
Aliases
hSorCS
 
Entrez Gene ID
 
Gene Name
Sortilin related VPS10 domain containing receptor 1
 
Chromosomal Location
10q25.1
 
HGNC ID
 
Summary
This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

SNPs

SNP Id
Upstream Sequence
SNP
Downstream Sequence Functional Significance References
rs1416406
27052493
rs11192966
27052493
rs1358030
27052493
rs1416406
27052493

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0007218 Biological process Neuropeptide signaling pathway NAS 11499680
GO:0016020 Cellular component Membrane IDA 12482870
GO:0016021 Cellular component Integral component of membrane IBA 21873635
GO:0005515 Molecular function Protein binding IPI 12482870
GO:0008188 Molecular function Neuropeptide receptor activity NAS 11499680
Protein Information
 
Protein Name
VPS10 domain-containing receptor SorCS1, VPS10 domain receptor protein SORCS 1
 
Function
 
Refseq Proteins
 
UniProt
Interactions
 
STRING MINT IntAct
ENSP00000240652 P10997 P10997
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Endocrine System Diseases
PCOS
Psychiatric/Brain disorders
Autistic Disorder
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
PCOS, Disturbances of steroidogenesis, hyperinsulinemia, d insulin resistance,  
rs1358030, rs1416406, rs11192966 
National Institute of Child Health and Human Development criteria 
Related 
 
We report for the first time the relevance of SORCS1 polymorphisms for glycemic control and glucose stimulated insulin secretion in obese women with PCOS. 

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