CSMD1

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

CSMD1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCSMD1, PPP1R24, CUB and Sushi multiple domains 1
External IDsOMIM: 608397 MGI: 2137383 HomoloGene: 69536 GeneCards: CSMD1
Gene location (Human)
Chr.Chromosome 8 (human)[1]
Band8p23.2Start2,935,353 bp[1]
End4,994,972 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

64478

94109

Ensembl

ENSG00000183117

ENSMUSG00000060924

UniProt

Q96PZ7

Q923L3

RefSeq (mRNA)

NM_033225

NM_053171

RefSeq (protein)

NP_150094

NP_444401

Location (UCSC)Chr 8: 2.94 – 4.99 MbChr 8: 15.89 – 17.54 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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].

gollark: No, but there's a decent chance one will at some point.
gollark: And spreading out infections a lot does mean the health system will be better able to deal with it.
gollark: If most people avoid infection until a vaccine is widely available, that would work.
gollark: Probably not practical to do it in the US *now*, though, or most other places.
gollark: Also, New Zealand managed it.

References
  1. GRCh38: Ensembl release 89: ENSG00000183117 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000060924 - 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. "Entrez Gene: CSMD1 CUB and Sushi multiple domains 1".
  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.
    • 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.
  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. 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. Baum, Matthew L. (2018-09-16). "The Schizophrenia-Associated Gene, CSMD1, Encodes a Brain-Specific Complement Inhibitor". Cite journal requires |journal= (help)

Further reading
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