CYLD (gene)

CYLD lysine 63 deubiquitinase, also known as CYLD, is a human gene.[5]

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	OMIM: 605018 MGI: 1921506 HomoloGene: 9069 GeneCards: CYLD
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16q12.1 Start 50,742,050 bp[1] End 50,801,935 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8|8 C3 Start 88,697,028 bp[2] End 88,751,945 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • cysteine-type peptidase activity • zinc ion binding • metal ion binding • peptidase activity • GO:0001948 protein binding • thiol-dependent ubiquitin-specific protease activity • proline-rich region binding • hydrolase activity • protein kinase binding • Lys63-specific deubiquitinase activity • Lys48-specific deubiquitinase activity • structural constituent of ribosome Cellular component • cytoplasm • cytosol • centrosome • cell projection • membrane • extrinsic component of cytoplasmic side of plasma membrane • cell membrane • spindle • microtubule organizing center • midbody • perinuclear region of cytoplasm • cytoplasmic microtubule • cytoskeleton • microtubules • ciliary basal body • ciliary tip Biological process • regulation of intrinsic apoptotic signaling pathway • ubiquitin-dependent protein catabolic process • regulation of microtubule cytoskeleton organization • Wnt signaling pathway • proteolysis • 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 • nucleotide-binding oligomerization domain containing signaling pathway • negative regulation of canonical Wnt signaling pathway • immune system process • regulation of tumor necrosis factor-mediated signaling pathway • protein deubiquitination • CD4-positive or CD8-positive, alpha-beta T cell lineage commitment • regulation of protein binding • innate immune system • regulation of B cell differentiation • negative regulation of T cell differentiation • positive regulation of T cell differentiation • homeostasis of number of cells • positive regulation of T cell receptor signaling pathway • GO:0060554, GO:0060555 necroptosis • protein K48-linked deubiquitination • ripoptosome assembly involved in necroptotic process • regulation of cilium assembly • positive regulation of cellular protein localization • protein linear deubiquitination • cytoplasmic translation • negative regulation of NIK/NF-kappaB signaling • negative regulation of JNK cascade • negative regulation of p38MAPK cascade • regulation of inflammatory response • regulation of necroptotic process Sources:Amigo / QuickGO
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 NP_001035877 NP_056062 NP_001365672 NP_001365673 NP_001365674 NP_001365675 NP_001365676 NP_001365677 NP_001365678 NP_001365679 NP_001365680 NP_001365681 NP_001365682 NP_001365683 NP_001365684 NP_001035814.1 NP_001035877.1	NP_001121642 NP_001121643 NP_001263208 NP_775545
Location (UCSC)	Chr 16: 50.74 – 50.8 Mb	Chr 8: 88.7 – 88.75 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.[6] CYLD is evolutionary ancient and can be found back as far back as sponges.[7]

References

1. GRCh38: Ensembl release 89: ENSG00000083799 - Ensembl, May 2017
2. 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. "Entrez Gene: CYLD cylindromatosis (turban tumor syndrome)".
7. 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. doi:10.1371/journal.pone.0191864. PMC 5796713. PMID 29394249.

Further reading

• Nakajima D, Okazaki N, Yamakawa H, Kikuno R, Ohara O, Nagase T (June 2002). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Research. 9 (3): 99–106. CiteSeerX 10.1.1.500.923. 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, Chapman P, Mangion J, Quirk Y, Easton DF, Burn J, Stratton MR (December 1995). "Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16q12-q13: evidence for its role as a tumour suppressor gene". Nature Genetics. 11 (4): 441–3. doi:10.1038/ng1295-441. PMID 7493027. S2CID 33637152.
• Maruyama K, Sugano S (January 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, Burn J, Stratton MR (March 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, Suyama A, Sugano S (October 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, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (December 1998). "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 Research. 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". Human Genetics. 105 (1–2): 171–3. doi:10.1007/s004390051083. PMID 10480375.
• Bignell GR, Warren W, Seal S, Takahashi M, Rapley E, Barfoot R, Green H, Brown C, Biggs PJ, Lakhani SR, Jones C, Hansen J, Blair E, Hofmann B, Siebert R, Turner G, Evans DG, Schrander-Stumpel C, Beemer FA, van Den Ouweland A, Halley D, Delpech B, Cleveland MG, Leigh I, Leisti J, Rasmussen S (June 2000). "Identification of the familial cylindromatosis tumour-suppressor gene". Nature Genetics. 25 (2): 160–5. doi:10.1038/76006. PMID 10835629. S2CID 22829077.
• Zhang QH, Ye M, Wu XY, Ren SX, Zhao M, Zhao CJ, Fu G, Shen Y, Fan HY, Lu G, Zhong M, Xu XR, Han ZG, Zhang JW, Tao J, Huang QH, Zhou J, Hu GX, Gu J, Chen SJ, Chen Z (October 2000). "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells". Genome Research. 10 (10): 1546–60. doi:10.1101/gr.140200. PMC 310934. PMID 11042152.
• Trompouki E, Hatzivassiliou E, Tsichritzis T, Farmer H, Ashworth A, Mosialos G (August 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. hdl:21.11116/0000-0007-948F-1. PMID 12917689. S2CID 4424549.
• Brummelkamp TR, Nijman SM, Dirac AM, Bernards R (August 2003). "Loss of the cylindromatosis tumour suppressor inhibits apoptosis by activating NF-kappaB". Nature. 424 (6950): 797–801. doi:10.1038/nature01811. hdl:1874/17767. PMID 12917690. S2CID 4416878.
• Kovalenko A, Chable-Bessia C, Cantarella G, Israël A, Wallach D, Courtois G (August 2003). "The tumour suppressor CYLD negatively regulates NF-kappaB signalling by deubiquitination". Nature. 424 (6950): 801–5. doi:10.1038/nature01802. PMID 12917691. S2CID 4397177.
• Hu G, Onder M, Gill M, Aksakal B, Oztas M, Gürer MA, Celebi JT (October 2003). "A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome". The Journal of Investigative Dermatology. 121 (4): 732–4. doi:10.1046/j.1523-1747.2003.12514.x. PMID 14632188.
• Regamey A, Hohl D, Liu JW, Roger T, Kogerman P, Toftgard R, Huber M (December 2003). "The tumor suppressor CYLD interacts with TRIP and regulates negatively nuclear factor kappaB activation by tumor necrosis factor". The Journal of Experimental Medicine. 198 (12): 1959–64. doi:10.1084/jem.20031187. PMC 2194148. PMID 14676304.
• Zhang XJ, Liang YH, He PP, Yang S, Wang HY, Chen JJ, Yuan WT, Xu SJ, Cui Y, Huang W (March 2004). "Identification of the cylindromatosis tumor-suppressor gene responsible for multiple familial trichoepithelioma". The Journal of Investigative Dermatology. 122 (3): 658–64. doi:10.1111/j.0022-202X.2004.22321.x. PMID 15086550.
• Jono H, Lim JH, Chen LF, Xu H, Trompouki E, Pan ZK, Mosialos G, Li JD (August 2004). "NF-kappaB is essential for induction of CYLD, the negative regulator of NF-kappaB: evidence for a novel inducible autoregulatory feedback pathway". The Journal of Biological Chemistry. 279 (35): 36171–4. doi:10.1074/jbc.M406638200. PMID 15226292.

External links

• Human CYLD genome location and CYLD gene details page in the UCSC Genome Browser.