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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]
CYLD (CYLD Lysine 63 Deubiquitinase) is a Protein Coding gene. Diseases associated with CYLD include Brooke-Spiegler Syndrome and Cylindromatosis, Familial. Among its related pathways are Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include protein kinase binding and thiol-dependent ubiquitin-specific protease activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004843 | thiol-dependent ubiquitin-specific protease activity | IEA,IDA | 18313383 |
GO:0005515 | protein binding | IPI | 18636086 |
GO:0008233 | peptidase activity | IEA | -- |
GO:0008234 | cysteine-type peptidase activity | IEA | -- |
GO:0008270 | zinc ion binding | IDA | 18313383 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005813 | centrosome | IDA | 25134987 |
GO:0005815 | microtubule organizing center | IEA | -- |
GO:0005819 | spindle | IEA,IDA | 25134987 |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | TNF signaling |
.86
|
|
2 | RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways | ||
3 | Deubiquitination |
.74
|
|
4 | Innate Immune System |
.61
|
|
5 | Metabolism of proteins |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002376 | immune system process | IEA | -- |
GO:0006508 | proteolysis | IEA | -- |
GO:0006511 | ubiquitin-dependent protein catabolic process | IEA | -- |
GO:0007049 | cell cycle | IEA | -- |
GO:0007346 | regulation of mitotic cell cycle | IBA,IMP | 17495026 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Water | Approved | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b | · | 10c | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: |
ExUns: | 18a | · | 18b | ^ | 19 | ^ | 20a | · | 20b | ^ | 21a | · | 21b | · | 21c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||
SP2: | - | ||||||||||||||
SP3: | |||||||||||||||
SP4: | |||||||||||||||
SP5: | |||||||||||||||
SP6: | |||||||||||||||
SP7: | |||||||||||||||
SP8: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CYLD 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CYLD 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CYLD 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CYLD 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CYLD 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cyld 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cyld 30 |
|
||
Chicken (Gallus gallus) |
Aves | CYLD 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CYLD 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cyld 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.11446 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cylda 30 31 |
|
OneToOne | |
Dr.18343 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CYLD 30 31 |
|
OneToOne | |
CG5603 32 |
|
|
|||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008412 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | F40F12.5a 32 |
|
|
|
cyld-1 31 |
|
OneToOne | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
5252 | Pathogenic: Cylindromatosis, familial | 50,793,665(+) | G/A | SPLICE_DONOR_VARIANT | |
5254 | Pathogenic: Cylindromatosis, familial; Brooke-Spiegler syndrome | 50,792,606(+) | TG/T | FRAMESHIFT_VARIANT | |
5256 | Pathogenic: Familial multiple trichoepitheliomata | 50,791,686(+) | CAG/C | FRAMESHIFT_VARIANT | |
5257 | Pathogenic: Familial multiple trichoepitheliomata | 50,782,468(+) | T/G | SPLICE_DONOR_VARIANT | |
5260 | Pathogenic: Cylindromatosis, familial | 50,751,655(+) | C/CT | FRAMESHIFT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2977n100 | CNV | loss | 25217958 |
esv2714463 | CNV | deletion | 23290073 |
esv2714464 | CNV | deletion | 23290073 |
esv3638608 | CNV | gain | 21293372 |
nsv1113806 | CNV | deletion | 24896259 |
nsv1113807 | CNV | deletion | 24896259 |
nsv952674 | CNV | duplication | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
brooke-spiegler syndrome |
|
|
cylindromatosis, familial |
|
|
trichoepithelioma, multiple familial, 1 |
|
|
spiradenoma |
|
|
adenoid cystic carcinoma |
|