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CYLD cylindromatosis (turban tumor syndrome) [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_001042412 Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 3, mRNA. Full Length Quote
ORF Sequence $829.98
NM_001042355 Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 2, mRNA. Full Length Quote
ORF Sequence $829.98
NM_015247 Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 1, mRNA. Full Length Quote
ORF Sequence $832.59


Gene Symbol CYLD
Entrez Gene ID 1540
Full Name cylindromatosis (turban tumor syndrome)
Synonyms CDMT, CYLD1, CYLDI, EAC, FLJ20180, FLJ31664, FLJ78684, KIAA0849, MFT, MFT1, SBS, TEM, USPL2
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

16

16q12.1

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].
Disorder

MIM: 605018

Cylindromatosis, familial, 132700 (3); Brooke-Spiegler syndrome,

mRNA NM_001042412, 109637775
Protein NP_001035877, 109637776
Product ubiquitin carboxyl-terminal hydrolase CYLD isoform 2
RefSeq Status REVIEWED
mRNA NM_001042355, 109637773
Protein NP_001035814, 109637774
Product ubiquitin carboxyl-terminal hydrolase CYLD isoform 2
RefSeq Status REVIEWED
mRNA NM_015247, 109637772
Protein NP_056062, 14165258
Product ubiquitin carboxyl-terminal hydrolase CYLD isoform 1
RefSeq Status REVIEWED
KEGG
hsa04622RIG-I-like receptor signaling pathway
hsa04380Osteoclast differentiation
Pathway Interaction Database
nfkappabcanonicalpathwayCanonical NF-kappaB pathway
tnfpathwayTNF receptor signaling pathway
WikiPathways
WP231TNF-alpha/NF-kB Signaling Pathway
Reactome
REACT_6900Signaling in Immune system
REACT_25359RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways
REACT_25271Negative regulators of RIG-I/MDA5 signaling
Homo sapiens (human)CYLDNP_056062.1
Pan troglodytes (chimpanzee)CYLDXP_520635.2
Canis lupus familiaris (dog)CYLDXP_854436.1
Bos taurus (cattle)CYLDNP_001039882.1
Mus musculus (house mouse)CyldNP_775545.1
Rattus norvegicus (Norway rat)CyldXP_001058247.1
Gallus gallus (chicken)CYLDXP_001233097.1
Danio rerio (zebrafish)cyldaXP_684817.3
Drosophila melanogaster (fruit fly)CYLDNP_723556.1
Process
IDNameEvidence
GO:0006412translationIEA
GO:0006511ubiquitin-dependent protein catabolic processIEA
GO:0007049cell cycleIEA
GO:0007346regulation of mitotic cell cycleIMP
GO:0016055Wnt receptor signaling pathwayIEA
GO:0032088negative regulation of NF-kappaB transcription factor activityIDA
GO:0032480negative regulation of type I interferon productionTAS
GO:0042347negative regulation of NF-kappaB import into nucleusIDA
GO:0070507regulation of microtubule cytoskeleton organizationIMP
GO:0070536protein K63-linked deubiquitinationIDA
GO:0090090negative regulation of canonical Wnt receptor signaling pathwayIMP
Component
IDNameEvidence
GO:0005622intracellularIEA
GO:0005737cytoplasmIEA
GO:0005829cytosolIDA
GO:0005840ribosomeIEA
GO:0005856cytoskeletonIEA
GO:0005881cytoplasmic microtubuleIDA
GO:0005886plasma membraneIEA
GO:0030496midbodyIDA
GO:0031234extrinsic to internal side of plasma membraneIDA
GO:0048471perinuclear region of cytoplasmIEA
Function
IDNameEvidence
GO:0003735structural constituent of ribosomeIEA
GO:0004221ubiquitin thiolesterase activityIEA
GO:0004843ubiquitin-specific protease activityIDA
GO:0005515protein bindingIPI
GO:0008233peptidase activityIEA
GO:0008234cysteine-type peptidase activityIEA
GO:0008270zinc ion bindingIDA
GO:0019901protein kinase bindingIPI
GO:0046872metal ion bindingIEA
GO:0070064proline-rich region bindingIPI
GeneCards CYLD
PDB 1WHM, 2VHF, 1IXD, 1WHL
UniProt Q9NQC7
MIM 605018
Ensembl ENSG00000083799
HGNC 2584
HPRD 05427

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