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CYLD (gene)

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(Redirected from Cylindromatosis)

CYLD
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCYLD, BRSS, CDMT, CYLD1, CYLDI, EAC, MFT, MFT1, SBS, TEM, USPL2, CYLD lysine 63 deubiquitinase
External IDsOMIM: 605018; MGI: 1921506; HomoloGene: 9069; GeneCards: CYLD; OMA:CYLD - orthologs
Orthologs
SpeciesHumanMouse
Entrez

1540

74256

Ensembl

ENSG00000083799

ENSMUSG00000036712

UniProt

Q9NQC7

Q80TQ2

RefSeq (mRNA)

NM_001042355
NM_001042412
NM_015247

NM_001128169
NM_001128170
NM_001128171
NM_001276279
NM_173369

RefSeq (protein)

NP_001121642
NP_001121643
NP_001263208
NP_775545

Location (UCSC)Chr 16: 50.74 – 50.8 MbChr 8: 89.42 – 89.48 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

The CYLD lysine 63 deubiquitinase gene, also termed the CYLD gene,[5] CYLD is an evolutionary ancient gene found to be present as far back on the evolutionary scale as in sponges.[6] In humans, this gene is located in band 12.1 on the long (or "q") arm of chromosome 16[7] and is known to code (i.e. direct the production of) multiple proteins through the process of alternative splicing.[8]

The CYLD gene in known to code for a cytoplasmic protein, termed CYLD lysine 63 deubiquitinase (here termed CYLD protein), which has three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains (areas or the protein controlling critical functions[9]). CYLD protein is a deubiquitinating enzyme, i.e. a protease that removes ubiquitin from certain proteins and thereby regulates these proteins' activities. CYLD protein removes ubiquitin from proteins involved in regulating the NF-κB, Wnt, notch, TGF-β,[10] and JNK[11] cell signaling pathways; these pathways normally act to regulate hair formation, cell growth, cell survival, inflammatory responses, and/or tumor development.[10][11]

The CYLD gene is classified as a tumor suppressor gene, i.e. a gene that regulates cell growth and when inactivated by a mutation leads to uncontrolled cell growth and the formation of tumors.[12] Inactivating mutations in this gene occur in essentially all cases of the CYLD cutaneous syndrome, a hereditary disorder in which individuals develop multiple skin tumors. The CYLD cutaneous syndrome includes three somewhat different forms of the disease: the multiple familial trichoepithelioma-type, Brooke–Spiegler syndrome-type, and familial cylindromatosis-type.[10] CYLD gene mutations are also associated with T-Cell Acute Lymphoblastic Leukemia,[12] multiple myeloma, hepatocellular carcinoma, neuroblastoma, pancreatic cancer,[13] uterine cancer, stomach cancer, colon cancer, lung cancer, and human papillomavirus-associated cancers.[11]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000083799 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000036712 – 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. ^ "Symbol report for CYLD". www.genenames.org/. Retrieved 20 June 2019.
  6. ^ Hadweh P, Chaitoglou I, Gravato-Nobre MJ, Ligoxygakis P, Mosialos G, Hatzivassiliou E (2018). "Functional analysis of the C. elegans cyld-1 gene reveals extensive similarity with its human homolog". PLOS ONE. 13 (2): e0191864. Bibcode:2018PLoSO..1391864H. doi:10.1371/journal.pone.0191864. PMC 5796713. PMID 29394249.
  7. ^ Arruda AP, Cardoso-Dos-Santos AC, Mariath LM, Feira MF, Kowalski TW, Bezerra KR, da Silva LA, Ribeiro EM, Schuler-Faccini L (July 2020). "A large family with CYLD cutaneous syndrome: medical genetics at the community level". Journal of Community Genetics. 11 (3): 279–284. doi:10.1007/s12687-019-00447-2. PMC 7295879. PMID 31792733.
  8. ^ "Entrez Gene: CYLD cylindromatosis (turban tumor syndrome)".
  9. ^ Weisbrich A, Honnappa S, Jaussi R, Okhrimenko O, Frey D, Jelesarov I, Akhmanova A, Steinmetz MO (October 2007). "Structure-function relationship of CAP-Gly domains". Nature Structural & Molecular Biology. 14 (10): 959–67. doi:10.1038/nsmb1291. PMID 17828277. S2CID 37088265.
  10. ^ a b c Nagy N, Dubois A, Szell M, Rajan N (2021). "Genetic Testing in CYLD Cutaneous Syndrome: An Update". The Application of Clinical Genetics. 14: 427–444. doi:10.2147/TACG.S288274. PMC 8566010. PMID 34744449.
  11. ^ a b c Cui Z, Kang H, Grandis JR, Johnson DE (January 2021). "CYLD Alterations in the Tumorigenesis and Progression of Human Papillomavirus-Associated Head and Neck Cancers". Molecular Cancer Research. 19 (1): 14–24. doi:10.1158/1541-7786.MCR-20-0565. PMC 7840145. PMID 32883697.
  12. ^ a b Lei H, Wang J, Hu J, Zhu Q, Wu Y (August 2021). "Deubiquitinases in hematological malignancies". Biomarker Research. 9 (1): 66. doi:10.1186/s40364-021-00320-w. PMC 8401176. PMID 34454635.
  13. ^ Davies HR, Hodgson K, Schwalbe E, Coxhead J, Sinclair N, Zou X, Cockell S, Husain A, Nik-Zainal S, Rajan N (October 2019). "Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome". Nature Communications. 10 (1): 4717. Bibcode:2019NatCo..10.4717D. doi:10.1038/s41467-019-12746-w. PMC 6797807. PMID 31624251.

Further reading

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