• Gene id: 1540

Gene Summary

• Gene Symbol: CYLD   Gene   UCSC   Ensembl
• Aliases: BRSS, CDMT, CYLD1, CYLDI, EAC, MFT, MFT1, SBS, TEM, USPL2
• Gene name: CYLD lysine 63 deubiquitinase
• Alternate names: ubiquitin carboxyl-terminal hydrolase CYLD, cylindromatosis (turban tumor syndrome), deubiquitinating enzyme CYLD, probable ubiquitin carboxyl-terminal hydrolase CYLD, ubiquitin specific peptidase like 2, ubiquitin thioesterase CYLD, ubiquitin thiolesterase CYL,
• Gene location: 16q12.1 (50742025: 50801934)     Exons: 1     NC_000016.10
• Gene summary(Entrez): This gene is 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 tric
• OMIM: 605018

Protein Summary

• Protein general information: Q9NQC7  
  • Name: Ubiquitin carboxyl terminal hydrolase CYLD (EC 3.4.19.12) (Deubiquitinating enzyme CYLD) (Ubiquitin thioesterase CYLD) (Ubiquitin specific processing protease CYLD)
  • Length: 956  
  • Mass: 107316
  • Tissue specificity: Detected in fetal brain, testis, and skeletal muscle, and at a lower level in adult brain, leukocytes, liver, heart, kidney, spleen, ovary and lung. Isoform 2 is found in all tissues except kidney. {ECO
• Sequence:

  MSSGLWSQEKVTSPYWEERIFYLLLQECSVTDKQTQKLLKVPKGSIGQYIQDRSVGHSRIPSAKGKKNQIGLKIL
  EQPHAVLFVDEKDVVEINEKFTELLLAITNCEERFSLFKNRNRLSKGLQIDVGCPVKVQLRSGEEKFPGVVRFRG
  PLLAERTVSGIFFGVELLEEGRGQGFTDGVYQGKQLFQCDEDCGVFVALDKLELIEDDDTALESDYAGPGDTMQV
  ELPPLEINSRVSLKVGETIESGTVIFCDVLPGKESLGYFVGVDMDNPIGNWDGRFDGVQLCSFACVESTILLHIN
  DIIPALSESVTQERRPPKLAFMSRGVGDKGSSSHNKPKATGSTSDPGNRNRSELFYTLNGSSVDSQPQSKSKNTW
  YIDEVAEDPAKSLTEISTDFDRSSPPLQPPPVNSLTTENRFHSLPFSLTKMPNTNGSIGHSPLSLSAQSVMEELN
  TAPVQESPPLAMPPGNSHGLEVGSLAEVKENPPFYGVIRWIGQPPGLNEVLAGLELEDECAGCTDGTFRGTRYFT
  CALKKALFVKLKSCRPDSRFASLQPVSNQIERCNSLAFGGYLSEVVEENTPPKMEKEGLEIMIGKKKGIQGHYNS
  CYLDSTLFCLFAFSSVLDTVLLRPKEKNDVEYYSETQELLRTEIVNPLRIYGYVCATKIMKLRKILEKVEAASGF
  TSEEKDPEEFLNILFHHILRVEPLLKIRSAGQKVQDCYFYQIFMEKNEKVGVPTIQQLLEWSFINSNLKFAEAPS
  CLIIQMPRFGKDFKLFKKIFPSLELNITDLLEDTPRQCRICGGLAMYECRECYDDPDISAGKIKQFCKTCNTQVH
  LHPKRLNHKYNPVSLPKDLPDWDWRHGCIPCQNMELFAVLCIETSHYVAFVKYGKDDSAWLFFDSMADRDGGQNG
  FNIPQVTPCPEVGEYLKMSLEDLHSLDSRRIQGCARRLLCDAYMCMYQSPTMSLYK

• Structural information:
  • Protein Domains: (153..19-)
    (/note="CAP-Gly-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00045-)
    (253..28-)
    (/note="CAP-Gly-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00045-)
    (492..53-)
    (/note="CAP-Gly-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PR-)
  • Interpro: IPR036859  IPR000938  IPR038765  IPR001394  IPR018200   IPR028889  
  • Prosite: PS00845 PS50245 PS00972 PS50235
  • PDB: 1IXD 1WHL 1WHM 2VHF
  • PDBsum: 1IXD 1WHL 1WHM 2VHF
  • STRING: ENSP00000392025
• Other Databases: GeneCards:  CYLD  Malacards:  CYLD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2001242	regulation of intrinsic apoptotic signaling pathway	IBA	biological process
GO:2001238	positive regulation of extrinsic apoptotic signaling pathway	IBA	biological process
GO:0070536	protein K63-linked deubiquitination	IBA	biological process
GO:0070266	necroptotic process	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IBA	molecular function
GO:0061578	Lys63-specific deubiquitinase activity	IBA	molecular function
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IBA	biological process
GO:0007346	regulation of mitotic cell cycle	IBA	biological process
GO:0005813	centrosome	IDA	cellular component
GO:0005819	spindle	IDA	cellular component
GO:0045087	innate immune response	IDA	biological process
GO:0070536	protein K63-linked deubiquitination	IDA	biological process
GO:0070536	protein K63-linked deubiquitination	IDA	biological process
GO:0050727	regulation of inflammatory response	IDA	biological process
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0070536	protein K63-linked deubiquitination	IDA	biological process
GO:0060544	regulation of necroptotic process	IDA	biological process
GO:0070536	protein K63-linked deubiquitination	IDA	biological process
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0070536	protein K63-linked deubiquitination	IDA	biological process
GO:0070536	protein K63-linked deubiquitination	IDA	biological process
GO:0008270	zinc ion binding	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0010803	regulation of tumor necrosis factor-mediated signaling pathway	IDA	biological process
GO:1990108	protein linear deubiquitination	IDA	biological process
GO:0061578	Lys63-specific deubiquitinase activity	IDA	molecular function
GO:1903753	negative regulation of p38MAPK cascade	IDA	biological process
GO:0046329	negative regulation of JNK cascade	IDA	biological process
GO:0061578	Lys63-specific deubiquitinase activity	IDA	molecular function
GO:0016579	protein deubiquitination	IDA	biological process
GO:0010803	regulation of tumor necrosis factor-mediated signaling pathway	IDA	biological process
GO:1990108	protein linear deubiquitination	IDA	biological process
GO:0010803	regulation of tumor necrosis factor-mediated signaling pathway	IDA	biological process
GO:1990108	protein linear deubiquitination	IDA	biological process
GO:0061578	Lys63-specific deubiquitinase activity	IDA	molecular function
GO:1901223	negative regulation of NIK/NF-kappaB signaling	IDA	biological process
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:0031234	extrinsic component of cytoplasmic side of plasma membrane	IDA	cellular component
GO:0030496	midbody	IDA	colocalizes with
GO:0005881	cytoplasmic microtubule	IDA	colocalizes with
GO:1902017	regulation of cilium assembly	ISS	biological process
GO:0097542	ciliary tip	ISS	cellular component
GO:0036064	ciliary basal body	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0090090	negative regulation of canonical Wnt signaling pathway	IMP	biological process
GO:0070507	regulation of microtubule cytoskeleton organization	IMP	biological process
GO:0070064	proline-rich region binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0007346	regulation of mitotic cell cycle	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0016579	protein deubiquitination	IEA	biological process
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0008233	peptidase activity	IEA	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0010803	regulation of tumor necrosis factor-mediated signaling pathway	TAS	biological process
GO:0016579	protein deubiquitination	TAS	biological process
GO:0032480	negative regulation of type I interferon production	TAS	biological process
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	TAS	molecular function
GO:0061578	Lys63-specific deubiquitinase activity	TAS	molecular function
GO:0061578	Lys63-specific deubiquitinase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0070423	nucleotide-binding oligomerization domain containing signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IEA	molecular function
GO:0036064	ciliary basal body	IEA	cellular component
GO:0043369	CD4-positive or CD8-positive, alpha-beta T cell lineage commitment	IEA	biological process
GO:0045582	positive regulation of T cell differentiation	IEA	biological process
GO:0050862	positive regulation of T cell receptor signaling pathway	IEA	biological process
GO:0060544	regulation of necroptotic process	IEA	biological process
GO:0070266	necroptotic process	IEA	biological process
GO:0070536	protein K63-linked deubiquitination	IEA	biological process
GO:0097542	ciliary tip	IEA	cellular component
GO:1901026	ripoptosome assembly involved in necroptotic process	IEA	biological process
GO:1902017	regulation of cilium assembly	IEA	biological process
GO:1903829	positive regulation of cellular protein localization	IEA	biological process
GO:0010803	regulation of tumor necrosis factor-mediated signaling pathway	IEA	biological process
GO:0016579	protein deubiquitination	IEA	biological process
GO:0043393	regulation of protein binding	IEA	biological process
GO:0045577	regulation of B cell differentiation	IEA	biological process
GO:0046329	negative regulation of JNK cascade	IEA	biological process
GO:0048872	homeostasis of number of cells	IEA	biological process
GO:0061578	Lys63-specific deubiquitinase activity	IEA	molecular function
GO:1903753	negative regulation of p38MAPK cascade	IEA	biological process
GO:1990108	protein linear deubiquitination	IEA	biological process
GO:1990380	Lys48-specific deubiquitinase activity	IEA	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0071108	protein K48-linked deubiquitination	IEA	biological process
GO:2001242	regulation of intrinsic apoptotic signaling pathway	IMP	biological process
GO:2001238	positive regulation of extrinsic apoptotic signaling pathway	IMP	biological process
GO:2001238	positive regulation of extrinsic apoptotic signaling pathway	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04217	Necroptosis
hsa04380	Osteoclast differentiation
hsa04064	NF-kappa B signaling pathway
hsa04625	C-type lectin receptor signaling pathway
hsa04622	RIG-I-like receptor signaling pathway

Diseases

Associated diseases	References
Brooke-Spiegler syndrome	KEGG:H00827
Familial cylindromatosis	KEGG:H00828
Multiple familial trichoepithelioma	KEGG:H00829
Brooke-Spiegler syndrome	KEGG:H00827
Familial cylindromatosis	KEGG:H00828
Multiple familial trichoepithelioma	KEGG:H00829
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)