Sequence in raw or FASTA format:
CYLD cylindromatosis (turban tumor syndrome) [Homo sapiens (human)]
| 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 |
| hsa04622 | RIG-I-like receptor signaling pathway |
| hsa04380 | Osteoclast differentiation |
Pathway Interaction Database
| nfkappabcanonicalpathway | Canonical NF-kappaB pathway |
| tnfpathway | TNF receptor signaling pathway |
WikiPathways
| WP231 | TNF-alpha/NF-kB Signaling Pathway |
Reactome
| REACT_6900 | Signaling in Immune system |
| REACT_25359 | RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways |
| REACT_25271 | Negative regulators of RIG-I/MDA5 signaling |
| Homo sapiens (human) | CYLD | NP_056062.1 |
| Pan troglodytes (chimpanzee) | CYLD | XP_520635.2 |
| Canis lupus familiaris (dog) | CYLD | XP_854436.1 |
| Bos taurus (cattle) | CYLD | NP_001039882.1 |
| Mus musculus (house mouse) | Cyld | NP_775545.1 |
| Rattus norvegicus (Norway rat) | Cyld | XP_001058247.1 |
| Gallus gallus (chicken) | CYLD | XP_001233097.1 |
| Danio rerio (zebrafish) | cylda | XP_684817.3 |
| Drosophila melanogaster (fruit fly) | CYLD | NP_723556.1 |
| ID | Name | Evidence |
| GO:0006412 | translation | IEA |
| GO:0006511 | ubiquitin-dependent protein catabolic process | IEA |
| GO:0007049 | cell cycle | IEA |
| GO:0007346 | regulation of mitotic cell cycle | IMP |
| GO:0016055 | Wnt receptor signaling pathway | IEA |
| GO:0032088 | negative regulation of NF-kappaB transcription factor activity | IDA |
| GO:0032480 | negative regulation of type I interferon production | TAS |
| GO:0042347 | negative regulation of NF-kappaB import into nucleus | IDA |
| GO:0070507 | regulation of microtubule cytoskeleton organization | IMP |
| GO:0070536 | protein K63-linked deubiquitination | IDA |
| GO:0090090 | negative regulation of canonical Wnt receptor signaling pathway | IMP |
Component
| ID | Name | Evidence |
| GO:0005622 | intracellular | IEA |
| GO:0005737 | cytoplasm | IEA |
| GO:0005829 | cytosol | IDA |
| GO:0005840 | ribosome | IEA |
| GO:0005856 | cytoskeleton | IEA |
| GO:0005881 | cytoplasmic microtubule | IDA |
| GO:0005886 | plasma membrane | IEA |
| GO:0030496 | midbody | IDA |
| GO:0031234 | extrinsic to internal side of plasma membrane | IDA |
| GO:0048471 | perinuclear region of cytoplasm | IEA |
Function
| ID | Name | Evidence |
| GO:0003735 | structural constituent of ribosome | IEA |
| GO:0004221 | ubiquitin thiolesterase activity | IEA |
| GO:0004843 | ubiquitin-specific protease activity | IDA |
| GO:0005515 | protein binding | IPI |
| GO:0008233 | peptidase activity | IEA |
| GO:0008234 | cysteine-type peptidase activity | IEA |
| GO:0008270 | zinc ion binding | IDA |
| GO:0019901 | protein kinase binding | IPI |
| GO:0046872 | metal ion binding | IEA |
| GO:0070064 | proline-rich region binding | IPI |
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