CYLD (gene)

CYLD
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1IXD, 1WHL, 1WHM, 2VHF
Identifiers
Aliases	CYLD, BRSS, CDMT, CYLD1, CYLDI, EAC, MFT, MFT1, SBS, TEM, USPL2, CYLD lysine 63 deubiquitinase
External IDs	MGI: 1921506 HomoloGene: 9069 GeneCards: CYLD
Gene ontology Molecular function • Lys63-specific deubiquitinase activity • cysteine-type peptidase activity • thiol-dependent ubiquitinyl hydrolase activity • zinc ion binding • metal ion binding • peptidase activity • protein binding • thiol-dependent ubiquitin-specific protease activity • proline-rich region binding • hydrolase activity • protein kinase binding Cellular component • cytoplasm • cytosol • centrosome • cell projection • membrane • extrinsic component of cytoplasmic side of plasma membrane • plasma membrane • spindle • microtubule organizing center • midbody • perinuclear region of cytoplasm • cytoplasmic microtubule • cytoskeleton • microtubule • ciliary basal body • ciliary tip Biological process • regulation of intrinsic apoptotic signaling pathway • ubiquitin-dependent protein catabolic process • regulation of tumor necrosis factor-mediated signaling pathway • regulation of microtubule cytoskeleton organization • Wnt signaling pathway • proteolysis • protein deubiquitination • protein K63-linked deubiquitination • regulation of mitotic cell cycle • positive regulation of extrinsic apoptotic signaling pathway • cell cycle • negative regulation of type I interferon production • negative regulation of NF-kappaB transcription factor activity • negative regulation of NF-kappaB import into nucleus • nucleotide-binding oligomerization domain containing signaling pathway • negative regulation of canonical Wnt signaling pathway • necroptotic process • regulation of cilium assembly Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
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_001035814.1 NP_001035877.1 NP_056062.1 NP_001035814.1 NP_001035877.1	NP_001121642.1 NP_001121643.1 NP_775545.1
Location (UCSC)	Chr 16: 50.74 – 50.8 Mb	Chr 8: 88.7 – 88.75 Mb
PubMed search	[1]	[2]
Wikidata

View/Edit Human

View/Edit Mouse

Cylindromatosis (turban tumor syndrome), also known as CYLD, is a human gene.^[3]

This gene encodes a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme. Mutations in this gene have been associated with cylindromatosis, multiple familial trichoepithelioma, and Brooke-Spiegler syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.^[3]

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. "Entrez Gene: CYLD cylindromatosis (turban tumor syndrome)".

Further reading

• Nakajima D, Okazaki N, Yamakawa H, et al. (2003). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.". DNA Res. 9 (3): 99–106. doi:10.1093/dnares/9.3.99. PMID 12168954.
• Lian F, Cockerell CJ (2006). "Cutaneous appendage tumors: familial cylindromatosis and associated tumors update.". Advances in dermatology. 21: 217–34. doi:10.1016/j.yadr.2005.06.005. PMID 16350444.
• Biggs PJ, Wooster R, Ford D, et al. (1996). "Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16q12-q13: evidence for its role as a tumour suppressor gene.". Nat. Genet. 11 (4): 441–3. doi:10.1038/ng1295-441. PMID 7493027.
• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene. 138 (1-2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Biggs PJ, Chapman P, Lakhani SR, et al. (1996). "The cylindromatosis gene (cyld1) on chromosome 16q may be the only tumour suppressor gene involved in the development of cylindromas.". Oncogene. 12 (6): 1375–7. PMID 8649842.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene. 200 (1-2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Nagase T, Ishikawa K, Suyama M, et al. (1999). "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.". DNA Res. 5 (6): 355–64. doi:10.1093/dnares/5.6.355. PMID 10048485.
• Thomson SA, Rasmussen SA, Zhang J, Wallace MR (1999). "A new hereditary cylindromatosis family associated with CYLD1 on chromosome 16.". Hum. Genet. 105 (1-2): 171–3. doi:10.1007/s004390051083. PMID 10480375.
• Bignell GR, Warren W, Seal S, et al. (2000). "Identification of the familial cylindromatosis tumour-suppressor gene.". Nat. Genet. 25 (2): 160–5. doi:10.1038/76006. PMID 10835629.
• Zhang QH, Ye M, Wu XY, et al. (2001). "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.". Genome Res. 10 (10): 1546–60. doi:10.1101/gr.140200. PMC 310934. PMID 11042152.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Trompouki E, Hatzivassiliou E, Tsichritzis T, et al. (2003). "CYLD is a deubiquitinating enzyme that negatively regulates NF-kappaB activation by TNFR family members.". Nature. 424 (6950): 793–6. doi:10.1038/nature01803. PMID 12917689.
• Brummelkamp TR, Nijman SM, Dirac AM, Bernards R (2003). "Loss of the cylindromatosis tumour suppressor inhibits apoptosis by activating NF-kappaB.". Nature. 424 (6950): 797–801. doi:10.1038/nature01811. PMID 12917690.
• Kovalenko A, Chable-Bessia C, Cantarella G, et al. (2003). "The tumour suppressor CYLD negatively regulates NF-kappaB signalling by deubiquitination.". Nature. 424 (6950): 801–5. doi:10.1038/nature01802. PMID 12917691.
• Hu G, Onder M, Gill M, et al. (2003). "A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome.". J. Invest. Dermatol. 121 (4): 732–4. doi:10.1046/j.1523-1747.2003.12514.x. PMID 14632188.
• Regamey A, Hohl D, Liu JW, et al. (2004). "The tumor suppressor CYLD interacts with TRIP and regulates negatively nuclear factor kappaB activation by tumor necrosis factor.". J. Exp. Med. 198 (12): 1959–64. doi:10.1084/jem.20031187. PMC 2194148. PMID 14676304.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Zhang XJ, Liang YH, He PP, et al. (2004). "Identification of the cylindromatosis tumor-suppressor gene responsible for multiple familial trichoepithelioma.". J. Invest. Dermatol. 122 (3): 658–64. doi:10.1111/j.0022-202X.2004.22321.x. PMID 15086550.
• Jono H, Lim JH, Chen LF, et al. (2004). "NF-kappaB is essential for induction of CYLD, the negative regulator of NF-kappaB: evidence for a novel inducible autoregulatory feedback pathway.". J. Biol. Chem. 279 (35): 36171–4. doi:10.1074/jbc.M406638200. PMID 15226292.