Sortilin 1

Source: Wikipedia, the free encyclopedia.
(Redirected from
SORT1
)
SORT1
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Ensembl
UniProt
RefSeq (mRNA)

NM_001205228
NM_002959

NM_001271599
NM_019972

RefSeq (protein)

NP_001192157
NP_002950

NP_001258528
NP_064356

Location (UCSC)Chr 1: 109.31 – 109.4 MbChr 3: 108.19 – 108.27 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Sortilin (SORT1) is a

development and cell death.[8][9][10][11][12] Moreover, the function and role of sortilin is now emerging in several major human diseases such as hypertension, atherosclerosis, coronary artery disease, Alzheimer’s disease, and cancer.[13][14][15][16] The SORT1 gene also contains one of 27 loci associated with increased risk of coronary artery disease.[17]

Structure

Gene

The SORT1 gene resides on chromosome 1 at the band 1p13.3 and includes 23

Protein

Sortilin is a member of the Vps10p sorting receptor family.

pro-peptide that serves as a chaperone for the Vps10p domain.[20] In addition, two hydrophobic loops have been detected in this domain and act to anchor the protein in the cell membrane.[21] Sortilin has also been shown to undergo a conformational change and form a protein dimer in acidic conditions similar to ones found in the endosome, indicating a double mechanism for low pH-induced ligand release and possibly signaling towards recycling of the receptor. [22]

Function

In humans, sortilin is expressed over a wide range of cell types and tissues such as the

Clinical significance

Given its function in facilitating

epithelial cells exhibited increased levels of sortilin as compared to normal epithelial tissues. Furthermore, it appears that sortilin participates in the progression of breast cancer and contributes to tumor cell adhesion and invasion.[15][16]

Clinical marker

In 2007, chromosome 1p13.3 was identified as a promising locus through a

lipid metabolism disorders.[36][37][38] Several single nucleotide polymorphisms of the SORT1 gene have a genetic association between serum blood lipid levels and the pathogenesis of cardiometabolic syndrome, including obesity, hypertension, and coronary artery disease.[25] As the role of sortilin in lipid metabolism and the development of atherosclerosis has been established, a recent study further reported that increased release of soluble sortilin from platelets, measured as circulating sortilin, may be associated with in vivo platelet activation.[39] This observation also indicates that sortilin has a potential application as a clinical biomarker for diagnosis and prognosis.[10][39] Additionally, a multi-locus genetic risk score study, based on a combination of 27 loci including the SORT1 gene, identified individuals at increased risk for both incident and recurrent coronary artery disease events, as well as an enhanced clinical benefit from statin therapy. The study was based on a community cohort study (the Malmo Diet and Cancer study) and four additional randomized controlled trials of primary prevention cohorts (JUPITER and ASCOT) and secondary prevention cohorts (CARE and PROVE IT-TIMI 22).[17]

Interactions

Sortilin has been shown to

Interactive Pathway Map

Sortilin participates in interactions within the trans-Golgi network vesicle budding and BDNF signaling pathways.

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000134243 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000068747 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: SORT1 sortilin 1".
  6. ^ "BioGPS - your Gene Portal System". biogps.org. Retrieved 2016-08-16.
  7. ^
    PMID 24531479
    .
  8. ^ .
  9. ^ .
  10. ^ .
  11. ^ .
  12. ^ .
  13. .
  14. ^ .
  15. ^ .
  16. ^ .
  17. ^ .
  18. ^ "SORT1 - Sortilin precursor - Homo sapiens (Human) - SORT1 gene & protein". www.uniprot.org. Retrieved 2016-08-16.
  19. S2CID 205522786
    .
  20. ^ .
  21. .
  22. .
  23. .
  24. .
  25. ^ .
  26. .
  27. ^ .
  28. .
  29. .
  30. .
  31. .
  32. ^ .
  33. .
  34. .
  35. .
  36. ^ .
  37. .
  38. .
  39. ^ .
  40. ^ .

Further reading

External links

This page is based on the copyrighted Wikipedia article: SORT1. Articles is available under the CC BY-SA 3.0 license; additional terms may apply.Privacy Policy