Cylindromatosis (CYLD)

CDMT; CYLD1; CYLDI; EAC; USPL2; Turban Tumor Syndrome; Ubiquitin Carboxyl-Terminal Hydrolase CYLD; Ubiquitin Specific Peptidase Like 2; Deubiquitinating enzyme CYLD

SPN	U425
HGNC	2584
MGI	1921506
PubMed	10835629
RGD	1308346
UniProt	Q9NQC7
Wiki	CYLD

Cylindromatosis (turban tumor syndrome), also known as CYLD, encodes a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme. The CYLD protein has 3 cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains, which are found in proteins that coordinate the attachment of organelles to microtubules. CYLD also has sequence homology to the catalytic domain of ubiquitin carboxy-terminal hydrolases. RT-PCR detected expression of CYLD in fetal brain, testis, and skeletal muscle, and at a lower level in adult brain, leukocytes, liver, heart, kidney, spleen, ovary, and lung. The splice variant lacking exon 7 was found in all tissues in which CYLD was expressed except kidney.

Reference

"Identification of the familial cylindromatosis tumor suppressor gene."
Nat. Genet. 25:160-165(2000) [PubMed] [Europe PMC] [Abstract]

"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. 5:355-364(1998) [PubMed] [Europe PMC] [Abstract]

"Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells."
Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract]

"CYLD is a deubiquitinating enzyme that negatively regulates NF-kappaB activation by TNFR family members."
Nature 424:793-796(2003) [PubMed] [Europe PMC] [Abstract]

"Loss of the cylindromatosis tumour suppressor inhibits apoptosis by activating NF-kappaB."
Nature 424:797-801(2003) [PubMed] [Europe PMC] [Abstract]

"The tumour suppressor CYLD negatively regulates NF-kappaB signalling by deubiquitination."
Nature 424:801-805(2003) [PubMed] [Europe PMC] [Abstract]

"The tumor suppressor CYLD interacts with TRIP and regulates negatively nuclear factor kappaB activation by tumor necrosis factor."
J. Exp. Med. 198:1959-1964(2003) [PubMed] [Europe PMC] [Abstract]

"Regulation of the deubiquitinating enzyme CYLD by IkappaB kinase gamma-dependent phosphorylation."
Mol. Cell. Biol. 25:3886-3895(2005) [PubMed] [Europe PMC] [Abstract]

"The tumor suppressor CYLD regulates entry into mitosis."
Proc. Natl. Acad. Sci. U.S.A. 104:8869-8874(2007) [PubMed] [Europe PMC] [Abstract]

"The tumour suppressor CYLD is a negative regulator of RIG-I-mediated antiviral response."
EMBO Rep. 9:930-936(2008) [PubMed] [Europe PMC] [Abstract]

"The tumor suppressor CYLD regulates microtubule dynamics and plays a role in cell migration."
J. Biol. Chem. 283:8802-8809(2008) [PubMed] [Europe PMC] [Abstract]

"A quantitative atlas of mitotic phosphorylation."
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]

"CYLD regulates angiogenesis by mediating vascular endothelial cell migration."
Blood 115:4130-4137(2010) [PubMed] [Europe PMC] [Abstract]

"CYLD negatively regulates cell-cycle progression by inactivating HDAC6 and increasing the levels of acetylated tubulin."
EMBO J. 29:131-144(2010) [PubMed] [Europe PMC] [Abstract]

"Loss of the tumor suppressor CYLD enhances Wnt/beta-catenin signaling through K63-linked ubiquitination of Dvl."
Mol. Cell 37:607-619(2010) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"The deubiquitinating enzyme CYLD controls apical docking of basal bodies in ciliated epithelial cells."
Nat. Commun. 5:4585-4585(2014) [PubMed] [Europe PMC] [Abstract]

"The CAP-Gly domain of CYLD associates with the proline-rich sequence in NEMO/IKKgamma."
Structure 12:1719-1728(2004) [PubMed] [Europe PMC] [Abstract]

"Solution structure of the 1st and 2nd CAP-Gly domains in human cylindromatosis tumor suppressor CYLD."
Submitted (NOV-2004) to the PDB data bank

"Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages."
J. Invest. Dermatol. 119:527-531(2002) [PubMed] [Europe PMC] [Abstract]

"Identification of a recurrent mutation in the CYLD gene in Brooke-Spiegler syndrome."
Clin. Exp. Dermatol. 28:539-541(2003) [PubMed] [Europe PMC] [Abstract]

"The structure of the CYLD USP domain explains its specificity for Lys63-linked polyubiquitin and reveals a B box module."
Mol. Cell 29:451-464(2008) [PubMed] [Europe PMC] [Abstract]

"A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome."
J. Invest. Dermatol. 121:732-734(2003) [PubMed] [Europe PMC] [Abstract]

"Two novel CYLD gene mutations in Chinese families with trichoepithelioma and a literature review of 16 families with trichoepithelioma reported in China."
Br. J. Dermatol. 153:1213-1215(2005) [PubMed] [Europe PMC] [Abstract]

"Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation."
J. Invest. Dermatol. 124:919-920(2005) [PubMed] [Europe PMC] [Abstract]

"CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes."
Clin. Genet. 70:246-249(2006) [PubMed] [Europe PMC] [Abstract]