ENSG00000083799


Homo sapiens

Features
Gene ID: ENSG00000083799
  
Biological name :CYLD
  
Synonyms : CYLD / CYLD lysine 63 deubiquitinase / Q9NQC7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: 1
Band: q12.1
Gene start: 50742050
Gene end: 50801935
  
Corresponding Affymetrix probe sets: 213295_at (Human Genome U133 Plus 2.0 Array)   214272_at (Human Genome U133 Plus 2.0 Array)   221903_s_at (Human Genome U133 Plus 2.0 Array)   221905_at (Human Genome U133 Plus 2.0 Array)   222142_at (Human Genome U133 Plus 2.0 Array)   39582_at (Human Genome U133 Plus 2.0 Array)   60084_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000462134
Ensembl peptide - ENSP00000458507
Ensembl peptide - ENSP00000463197
Ensembl peptide - ENSP00000308928
Ensembl peptide - ENSP00000381574
Ensembl peptide - ENSP00000392025
Ensembl peptide - ENSP00000454515
Ensembl peptide - ENSP00000455535
Ensembl peptide - ENSP00000456488
Ensembl peptide - ENSP00000456912
Ensembl peptide - ENSP00000457108
Ensembl peptide - ENSP00000457576
NCBI entrez gene - 1540     See in Manteia.
OMIM - 605018
RefSeq - XM_017022981
RefSeq - NM_001042355
RefSeq - NM_001042412
RefSeq - NM_015247
RefSeq - XM_005255812
RefSeq - XM_006721149
RefSeq - XM_011522907
RefSeq - XM_011522908
RefSeq - XM_011522911
RefSeq - XM_017022977
RefSeq - XM_017022978
RefSeq - XM_017022979
RefSeq - XM_017022980
RefSeq Peptide - NP_056062
RefSeq Peptide - NP_001035814
RefSeq Peptide - NP_001035877
swissprot - H3BTB8
swissprot - I3L117
swissprot - J3KRR7
swissprot - H3BPZ5
swissprot - Q9NQC7
swissprot - A0A024R6T1
swissprot - J3QKR2
swissprot - H3BS09
swissprot - H3BSW9
Ensembl - ENSG00000083799
  
Related genetic diseases (OMIM): 132700 - Cylindromatosis, familial, 132700
  601606 - Trichoepithelioma, multiple familial, 1, 601606
  605041 - Brooke-Spiegler syndrome, 605041
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cyldaENSDARG00000060058Danio rerio
 CYLDENSGALG00000003753Gallus gallus
 CyldENSMUSG00000036712Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR000938  CAP Gly-rich domain
 IPR001394  Peptidase C19, ubiquitin carboxyl-terminal hydrolase
 IPR018200  Ubiquitin specific protease, conserved site
 IPR028889  Ubiquitin specific protease domain
 IPR036859  CAP Gly-rich domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006511 ubiquitin-dependent protein catabolic process IEA
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007346 regulation of mitotic cell cycle IMP
 biological_processGO:0010803 regulation of tumor necrosis factor-mediated signaling pathway IDA
 biological_processGO:0016055 Wnt signaling pathway IEA
 biological_processGO:0016579 protein deubiquitination IEA
 biological_processGO:0032088 negative regulation of NF-kappaB transcription factor activity IDA
 biological_processGO:0032480 negative regulation of type I interferon production TAS
 biological_processGO:0043369 CD4-positive or CD8-positive, alpha-beta T cell lineage commitment IEA
 biological_processGO:0043393 regulation of protein binding IEA
 biological_processGO:0045087 innate immune response IEA
 biological_processGO:0045577 regulation of B cell differentiation IEA
 biological_processGO:0045581 negative regulation of T cell differentiation IEA
 biological_processGO:0045582 positive regulation of T cell differentiation IEA
 biological_processGO:0048872 homeostasis of number of cells IEA
 biological_processGO:0050862 positive regulation of T cell receptor signaling pathway IEA
 biological_processGO:0070266 necroptotic process IEA
 biological_processGO:0070423 nucleotide-binding oligomerization domain containing signaling pathway TAS
 biological_processGO:0070507 regulation of microtubule cytoskeleton organization IMP
 biological_processGO:0070536 protein K63-linked deubiquitination IDA
 biological_processGO:0071108 protein K48-linked deubiquitination IEA
 biological_processGO:0090090 negative regulation of canonical Wnt signaling pathway IMP
 biological_processGO:1901026 ripoptosome assembly involved in necroptotic process IEA
 biological_processGO:1902017 regulation of cilium assembly IEA
 biological_processGO:1903829 positive regulation of cellular protein localization IEA
 biological_processGO:1990108 protein linear deubiquitination IDA
 biological_processGO:2001238 positive regulation of extrinsic apoptotic signaling pathway IMP
 biological_processGO:2001242 regulation of intrinsic apoptotic signaling pathway IMP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005813 centrosome IDA
 cellular_componentGO:0005815 microtubule organizing center IEA
 cellular_componentGO:0005819 spindle IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005874 microtubule IEA
 cellular_componentGO:0005881 cytoplasmic microtubule IDA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030496 midbody IDA
 cellular_componentGO:0031234 extrinsic component of cytoplasmic side of plasma membrane IDA
 cellular_componentGO:0036064 ciliary basal body IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 cellular_componentGO:0097542 ciliary tip IEA
 molecular_functionGO:0004843 thiol-dependent ubiquitin-specific protease activity IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008234 cysteine-type peptidase activity IEA
 molecular_functionGO:0008270 zinc ion binding IDA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0019901 protein kinase binding IPI
 molecular_functionGO:0036459 thiol-dependent ubiquitinyl hydrolase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0061578 Lys63-specific deubiquitinase activity IEA
 molecular_functionGO:0070064 proline-rich region binding IPI
 molecular_functionGO:1990380 Lys48-specific deubiquitinase activity IEA


Pathways (from Reactome)
Pathway description
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


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
Show

 HP:0001056 Milia 
Show

 HP:0001482 Subcutaneous nodules 
Show

 HP:0002664 Neoplasia "An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant tumour or neoplasm." [HPO:curators]
Show

 HP:0002671 Basal cell carcinoma 
Show

 HP:0003581 Onset in adulthood 
Show

 HP:0008069 Neoplasia of the skin 
Show

 HP:0100585 Teleangiectasia of the skin 
Show

 HP:0200034 skin papules "A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point." [HPO:SKOEHLER]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000106100 NOD1 / Q9Y239 / nucleotide binding oligomerization domain containing 1  / reaction
 ENSG00000105270 CLIP3 / Q96DZ5 / CAP-Gly domain containing linker protein 3  / reaction / complex
 ENSG00000175104 TRAF6 / Q9Y4K3 / TNF receptor associated factor 6  / complex
 ENSG00000269335 IKBKG / Q9Y6K9 / inhibitor of nuclear factor kappa B kinase subunit gamma  / reaction / complex
 ENSG00000167207 NOD2 / Q9HC29 / nucleotide binding oligomerization domain containing 2  / reaction
 ENSG00000127191 TRAF2 / Q12933 / TNF receptor associated factor 2  / complex
 ENSG00000104312 RIPK2 / O43353 / receptor interacting serine/threonine kinase 2  / reaction
 ENSG00000137275 RIPK1 / Q13546 / receptor interacting serine/threonine kinase 1  / complex
 ENSG00000104365 IKBKB / O14920 / inhibitor of nuclear factor kappa B kinase subunit beta  / reaction






 

1 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr