Homo sapiens Gene: CYLD
Summary
InnateDB Gene IDBG-30697.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CYLD
Gene Name cylindromatosis (turban tumor syndrome)
Synonyms BRSS; CDMT; CYLD1; CYLDI; EAC; MFT; MFT1; SBS; TEM; USPL2;
Species Homo sapiens
Ensembl Gene ENSG00000083799
Encoded Proteins
cylindromatosis (turban tumor syndrome)
cylindromatosis (turban tumor syndrome)
cylindromatosis (turban tumor syndrome)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation
Summary
CYLD is a negative regulator of DDX58(RIG-I)-mediated antiviral response by removing Lys 63-linked polyubiquitin chains from RIG-I and TBK1.
CYLD is a crucial negative regulator of innate immune response in Escherichia coli pneumonia.
CYLD is a deubiquitinase that counteracts E3 ligases and therefore play a prominent role in the downregulation of NF-κB signalling and homeostasis.
CYLD is a deubiquitinase that act as a negative regulator of TLR3 induction in response to LPS.
CYLD plays a key role in Type I IFN receptor signalling during vesicular stomatitis virus (VSV) infection. In the absence of CYLD, IFN-beta is ineffective in the induction of antiviral genes. (Demonstrated in mice)
The E3 ligase ITCH and deubiquitinase CYLD act together to regulate TAK1 and inflammation.
MIR362 promotes natural killer-cell function by the down-regulation of CYLD.
InnateDB Annotation from Orthologs
Summary
[Mus musculus] Cyld is a deubiquitinase that act as a negative regulator of TLR3 induction in response to LPS. (Demonstrated in human)
[Mus musculus] Cyld plays a key role in Type I IFN receptor signalling during vesicular stomatitis virus (VSV) infection. In the absence of Cyld, IFN-beta is ineffective in the induction of antiviral genes.
[Mus musculus] The E3 ligase Itch and deubiquitinase Cyld act together to regulate Tak1 and inflammation.
Entrez Gene
Summary 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 trichoepithelioma, and Brooke-Spiegler syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:50742050-50801935
Strand Forward strand
Band q12.1
Transcripts
ENST00000311559 ENSP00000308928
ENST00000398568 ENSP00000381574
ENST00000427738 ENSP00000392025
ENST00000563629
ENST00000568704 ENSP00000456488
ENST00000569418 ENSP00000457576
ENST00000563976
ENST00000566024 ENSP00000458507
ENST00000564634 ENSP00000455535
ENST00000568744
ENST00000569891
ENST00000566679 ENSP00000456912
ENST00000564326 ENSP00000454515
ENST00000569681 ENSP00000457108
ENST00000566206 ENSP00000462134
ENST00000562884 ENSP00000463197
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 76 experimentally validated interaction(s) in this database.
They are also associated with 14 interaction(s) predicted by orthology.
Experimentally validated
Total 76 [view]
Protein-Protein 70 [view]
Protein-DNA 4 [view]
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 1 [view]
DNA-RNA 0
Predicted by orthology
Total 14 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004843 ubiquitin-specific protease activity
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0019901 protein kinase binding
GO:0036459 ubiquitinyl hydrolase activity
GO:0061578 Lys63-specific deubiquitinase activity
GO:0070064 proline-rich region binding
Biological Process
GO:0006511 ubiquitin-dependent protein catabolic process
GO:0007049 cell cycle
GO:0007346 regulation of mitotic cell cycle
GO:0016055 Wnt signaling pathway
GO:0032088 negative regulation of NF-kappaB transcription factor activity
GO:0032480 negative regulation of type I interferon production
GO:0035872 nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway
GO:0042347 negative regulation of NF-kappaB import into nucleus
GO:0045087 innate immune response (InnateDB)
GO:0070266 necroptotic process
GO:0070423 nucleotide-binding oligomerization domain containing signaling pathway
GO:0070507 regulation of microtubule cytoskeleton organization
GO:0070536 protein K63-linked deubiquitination
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:2001238 positive regulation of extrinsic apoptotic signaling pathway
GO:2001242 regulation of intrinsic apoptotic signaling pathway
Cellular Component
GO:0005634 nucleus
GO:0005813 centrosome
GO:0005829 cytosol
GO:0005881 cytoplasmic microtubule
GO:0030496 midbody
GO:0031234 extrinsic component of cytoplasmic side of plasma membrane
GO:0048471 perinuclear region of cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
EGFR1 pathway
RANKL pathway
REACTOME
Innate Immune System pathway
RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways pathway
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways pathway
NOD1/2 Signaling Pathway pathway
Immune System pathway
Negative regulators of RIG-I/MDA5 signaling pathway
KEGG
Osteoclast differentiation pathway
RIG-I-like receptor signaling pathway pathway
INOH
PID BIOCARTA
PID NCI
TNF receptor signaling pathway
Canonical NF-kappaB pathway
Cross-References
SwissProt Q9NQC7
TrEMBL A0A024R6Q9 A0A024R6T1 H3BPZ5 H3BSW9 H3BTB8
UniProt Splice Variant
Entrez Gene 1540
UniGene Hs.432993 Hs.578973 Hs.611934 Hs.619311 Hs.693214
RefSeq NM_001042355 NM_015247 NM_001042412 XM_006721151 XM_006721150 XM_006721149 XM_005255812 XM_006721148
HUGO HGNC:2584
OMIM 605018
CCDS CCDS42164 CCDS45482
HPRD 05427
IMGT
EMBL AB020656 AC007728 AF161542 AJ250014 BC012342 CH471092
GenPept AAF29029 AAH12342 BAA74872 CAB93533 EAW82768 EAW82769 EAW82770 EAW82771 EAW82772 EAW82773
RNA Seq Atlas 102724054 1540