Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1540
Gene name Gene Name - the full gene name approved by the HGNC.
CYLD lysine 63 deubiquitinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CYLD
Synonyms (NCBI Gene) Gene synonyms aliases
BRSS, CDMT, CYLD1, CYLDI, EAC, FTDALS8, MFT, MFT1, SBS, TEM, USPL2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
BRSS, FTDALS8, MFT1
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q12.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs764952788 C>A,T Pathogenic Missense variant, coding sequence variant, stop gained, non coding transcript variant
rs886040868 TGGA>- Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
rs886040869 ->C Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
rs886040870 CAAGAGGTGT>- Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
rs886040871 ->AG Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004211 hsa-miR-197-3p Microarray 16822819
MIRT005595 hsa-miR-181b-5p Luciferase reporter assay, qRT-PCR 20797623
MIRT006978 hsa-miR-182-5p Luciferase reporter assay, qRT-PCR, Western blot 23006329
MIRT006978 hsa-miR-182-5p Luciferase reporter assay, qRT-PCR, Western blot 23006329
MIRT044462 hsa-miR-320a CLASH 23622248
Transcription factors
Transcription factor Regulation Reference
LEF1 Repression 22157808
LEF1 Unknown 24577083
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004843 Function Thiol-dependent ubiquitin-specific protease activity IBA 21873635
GO:0004843 Function Thiol-dependent ubiquitin-specific protease activity IDA 18313383, 18636086, 27458237, 27591049
GO:0005515 Function Protein binding IPI 18636086, 19615732, 19893491, 20227366, 22057290, 24981860, 25134987, 26997266, 27307491, 27458237, 27545878, 27591049
GO:0005813 Component Centrosome IDA 25134987
GO:0005819 Component Spindle IDA 25134987
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605018 2584 ENSG00000083799
Protein
UniProt ID Q9NQC7
Protein name Ubiquitin carboxyl-terminal hydrolase CYLD (EC 3.4.19.12) (Deubiquitinating enzyme CYLD) (Ubiquitin thioesterase CYLD) (Ubiquitin-specific-processing protease CYLD)
Protein function Deubiquitinase that specifically cleaves 'Lys-63'- and linear 'Met-1'-linked polyubiquitin chains and is involved in NF-kappa-B activation and TNF-alpha-induced necroptosis (PubMed:18313383, PubMed:18636086, PubMed:26670046, PubMed:26997266, Pub
PDB 1IXD , 1WHL , 1WHM , 2VHF , 7OWC , 7OWD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01302 CAP_GLY 127 202 CAP-Gly domain Domain
PF16607 CYLD_phos_site 307 471 Disordered
PF01302 CAP_GLY 472 539 CAP-Gly domain Domain
PF00443 UCH 592 894 Ubiquitin carboxyl-terminal hydrolase Family
Tissue specificity 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:0000269|PubMed:10835629, ECO:000
Sequence
MSSGLWSQEKVTSPYWEERIFYLLLQECSVTDKQTQKLLKVPKGSIGQYIQDRSVGHSRI
PSAKGKKNQIGLKILEQPHAVLFVDEKDVVEINEKFTELLLAITNCEERFSLFKNRNRLS
KGLQIDVGCPVKVQLRSGEEKFPGVVRFRGPLLAERTVSGIFFGVELLEEGRGQGFTDGV
YQGKQLFQCDEDCGVFVALDKL
ELIEDDDTALESDYAGPGDTMQVELPPLEINSRVSLKV
GETIESGTVIFCDVLPGKESLGYFVGVDMDNPIGNWDGRFDGVQLCSFACVESTILLHIN
DIIPALSESVTQERRPPKLAFMSRGVGDKGSSSHNKPKATGSTSDPGNRNRSELFYTLNG
SSVDSQPQSKSKNTWYIDEVAEDPAKSLTEISTDFDRSSPPLQPPPVNSLTTENRFHSLP
FSLTKMPNTNGSIGHSPLSLSAQSVMEELNTAPVQESPPLAMPPGNSHGLE
VGSLAEVKE
NPPFYGVIRWIGQPPGLNEVLAGLELEDECAGCTDGTFRGTRYFTCALKKALFVKLKSC
R
PDSRFASLQPVSNQIERCNSLAFGGYLSEVVEENTPPKMEKEGLEIMIGKKKGIQGHYNS
CYLDSTLFCLFAFSSVLDTVLLRPKEKNDVEYYSETQELLRTEIVNPLRIYGYVCATKIM
KLRKILEKVEAASGFTSEEKDPEEFLNILFHHILRVEPLLKIRSAGQKVQDCYFYQIFME
KNEKVGVPTIQQLLEWSFINSNLKFAEAPSCLIIQMPRFGKDFKLFKKIFPSLELNITDL
LEDTPRQCRICGGLAMYECRECYDDPDISAGKIKQFCKTCNTQVHLHPKRLNHKYNPVSL
PKDLPDWDWRHGCIPCQNMELFAVLCIETSHYVAFVKYGKDDSAWLFFDSMADR
DGGQNG
FNIPQVTPCPEVGEYLKMSLEDLHSLDSRRIQGCARRLLCDAYMCMYQSPTMSLYK
Sequence length 956
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  NF-kappa B signaling pathway
Necroptosis
Osteoclast differentiation
RIG-I-like receptor signaling pathway
C-type lectin receptor signaling pathway
TNF signaling pathway
  NOD1/2 Signaling Pathway
TNFR1-induced proapoptotic signaling
Regulation of TNFR1 signaling
TNFR1-induced NFkappaB signaling pathway
Ub-specific processing proteases
Negative regulators of DDX58/IFIH1 signaling
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Brooke-spiegler syndrome Brooke-Spiegler syndrome rs121908388, rs1597088499, rs121908389, rs121908390, rs1597052041, rs886040870, rs886040874, rs886040875, rs886040884, rs886040885, rs886040888 12190880, 14632188, 17851586, 20227366, 16713561, 19807742, 12917690, 12950348, 17662085, 10835629, 18234730, 15854031, 16484982
Carcinoma Carcinoma, Basal Cell rs121912654, rs555607708, rs786202962, rs1564055259
Cervical cancer cervical cancer rs28934571, rs121913482, rs121913483 29477382
Cylindromatosis Eccrine dermal cylindroma, Familial cylindromatosis rs1597091470, rs121908388, rs1597088499, rs121908390, rs1596971597, rs2147483647, rs886040868, rs886040869, rs886040871, rs886040872, rs764952788, rs886040873, rs886040876, rs886040879, rs886040882
View all (8 more)
18234730
Unknown
Disease term Disease name Evidence References Source
Crohn disease Crohn Disease 17804789 ClinVar
Head and neck cancer Malignant Head and Neck Neoplasm ClinVar
Epithelioma trichoepithelioma, multiple familial, 1 GenCC
Amyotrophic Lateral Sclerosis amyotrophic lateral sclerosis GenCC
Associations from Text Mining
Disease Name Relationship Type References
Acrospiroma Associate 31101826
Adenocarcinoma Associate 29463883
Adenocarcinoma of Lung Associate 29286108, 31860169
Alzheimer Disease Associate 36000313
Amyotrophic Lateral Sclerosis Associate 36000313
Anus Neoplasms Associate 32461623
Autoimmune Diseases Associate 26276688
Bisphosphonate Associated Osteonecrosis of the Jaw Associate 32705175
Carcinogenesis Associate 12917690, 16900776, 17495026, 26276688
Carcinoma Adenoid Cystic Associate 15854031, 16627981, 16900776, 17495026, 21552290, 23778141, 25951887, 26660106, 26969893, 29569226, 31101826, 32461623, 32892208