CSMD1

CSMD1

CSMD1

Protein-coding gene in the species Homo sapiens

CSMD1 CUB and Sushi multiple domains 1 is a protein that in humans is encoded by the CSMD1 gene.[5]

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Structure

CSMD1 contains 14 N-terminal CUB domains that are separated from each other by a Sushi domains followed by an additional 15 tandem Sushi domain segment.[6]

Function

Based on analogy to other proteins that contain Sushi domains, it is believed that the gene product of CSMD1 functions as a Complement control protein.[6]

Clinical significance

It is a potential tumour suppressor, the deletion of which may result in head and neck carcinomas behaving more aggressively.[7] CSMD1 protein expression was found to be reduced in patients with invasive breast cancer.[8] Functional studies showed that CSMD1 reduction causes cells to transform to a cancer form by increasing their ability to divide, migrate and invade. In a three dimensional model of breast ducts, reduced CSMD1 expression failed breast duct formation.[9]

Certain CSMD1 genetic variants have been found to show an association with risk of developing schizophrenia, consistent with emerging evidence that some forms of schizophrenia may result from dysregulated complement activation in the central nervous system resulting in excessive synaptic pruning.[10]

References

  1. [1]
    GRCh38: Ensembl release 89: ENSG00000183117 – Ensembl, May 2017
  2. [2]
    GRCm38: Ensembl release 89: ENSMUSG00000060924 – Ensembl, May 2017
  3. [3]
    "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. [4]
    "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. [5]
    "Entrez Gene: CSMD1 CUB and Sushi multiple domains 1".
  6. [6]
    Kraus DM, Elliott GS, Chute H, Horan T, Pfenninger KH, Sanford SD, Foster S, Scully S, Welcher AA, Holers VM (April 2006). "CSMD1 is a novel multiple domain complement-regulatory protein highly expressed in the central nervous system and epithelial tissues". Journal of Immunology. 176 (7): 4419–30. doi:10.4049/jimmunol.176.7.4419. PMID 16547280.
  7. [7]
    • Toomes C, Jackson A, Maguire K, Wood J, Gollin S, Ishwad C, Paterson I, Prime S, Parkinson K, Bell S, Woods G, Markham A, Oliver R, Woodward R, Sloan P, Dixon M, Read A, Thakker N (June 2003). "The presence of multiple regions of homozygous deletion at the CSMD1 locus in oral squamous cell carcinoma question the role of CSMD1 in head and neck carcinogenesis". Genes, Chromosomes & Cancer. 37 (2): 132–40. doi:10.1002/gcc.10191. PMID 12696061. S2CID 22088084.
  8. [8]
    Escudero-Esparza A, Bartoschek M, Gialeli C, Okroj M, Owen S, Jirström K, Orimo A, Jiang WG, Pietras K, Blom AM (November 2016). "Complement inhibitor CSMD1 acts as tumor suppressor in human breast cancer". Oncotarget. 7 (47): 76920–76933. doi:10.18632/oncotarget.12729. PMC 5363559. PMID 27764775.
  9. [9]
    Kamal M, Holliday DL, Morrison EE, Speirs V, Toomes C, Bell SM (July 2017). "Loss of CSMD1 expression disrupts mammary duct formation while enhancing proliferation, migration and invasion". Oncology Reports. 38 (1): 283–292. doi:10.3892/or.2017.5656. PMID 28534981.
  10. [10]
    Baum, Matthew L. (2018-09-16). "The Schizophrenia-Associated Gene, CSMD1, Encodes a Brain-Specific Complement Inhibitor". {{cite journal}}: Cite journal requires |journal= (help)

Further reading

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