CYLD - CYLD lysine 63 deubiquitinase Gene
Also Known as EAC; MFT; SBS; TEM; BRSS; CDMT; MFT1; CYLD1; CYLDI; USPL2; FTDALS8
Species: Homo sapiens
About CYLD
This gene has 15 transcripts (splice variants), 212 orthologues and is associated with 82 phenotypes. Ubiquitous expression in bone marrow (RPKM 13.0), lymph node (RPKM 10.5) and 25 other tissues.
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, Jul 2008]
CYLD Products (16)
| mRNA | Protein | Name |
|---|---|---|
| NM_001042355.2 | NP_001035814.1 | ubiquitin carboxyl-terminal hydrolase CYLD isoform 2 |
| NM_001042412.3 | NP_001035877.1 | ubiquitin carboxyl-terminal hydrolase CYLD isoform 2 |
| NM_001378743.1 | NP_001365672.1 | ubiquitin carboxyl-terminal hydrolase CYLD isoform 1 |
| NM_001378744.1 | NP_001365673.1 | ubiquitin carboxyl-terminal hydrolase CYLD isoform 2 |
| NM_001378745.1 | NP_001365674.1 | ubiquitin carboxyl-terminal hydrolase CYLD isoform 2 |
| NM_001378746.1 | NP_001365675.1 | ubiquitin carboxyl-terminal hydrolase CYLD isoform 2 |
| NM_001378747.1 | NP_001365676.1 | ubiquitin carboxyl-terminal hydrolase CYLD isoform 2 |
| NM_001378748.1 | NP_001365677.1 | ubiquitin carboxyl-terminal hydrolase CYLD isoform 2 |
| NM_001378749.1 | NP_001365678.1 | ubiquitin carboxyl-terminal hydrolase CYLD isoform 2 |
| NM_001378750.1 | NP_001365679.1 | ubiquitin carboxyl-terminal hydrolase CYLD isoform 2 |
| NM_001378751.1 | NP_001365680.1 | ubiquitin carboxyl-terminal hydrolase CYLD isoform 3 |
| NM_001378752.1 | NP_001365681.1 | ubiquitin carboxyl-terminal hydrolase CYLD isoform 3 |
| NM_001378753.1 | NP_001365682.1 | ubiquitin carboxyl-terminal hydrolase CYLD isoform 3 |
| NM_001378754.1 | NP_001365683.1 | ubiquitin carboxyl-terminal hydrolase CYLD isoform 4 |
| NM_001378755.1 | NP_001365684.1 | ubiquitin carboxyl-terminal hydrolase CYLD isoform 4 |
| NM_015247.3 | NP_056062.1 | ubiquitin carboxyl-terminal hydrolase CYLD isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables K63-linked deubiquitinase activity |
EXP
EXP: Inferred from Experiment
|
26997266 | GOA |
| enables K63-linked deubiquitinase activity |
IDA
IDA: Inferred from direct assay
|
18313383 | GOA |
| enables Met1-linked polyubiquitin deubiquitinase activity |
EXP
EXP: Inferred from Experiment
|
26997266 | GOA |
| enables cysteine-type deubiquitinase activity |
IDA
IDA: Inferred from direct assay
|
18313383 | GOA |
| enables proline-rich region binding |
IPI
IPI: Inferred from physical interaction
|
15341735 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
18636086 | GOA |
| enables protein kinase binding |
IPI
IPI: Inferred from physical interaction
|
17495026 | GOA |
| enables zinc ion binding |
IDA
IDA: Inferred from direct assay
|
18313383 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in centrosome |
IDA
IDA: Inferred from direct assay
|
25134987 | GOA |
| colocalizes with cytoplasmic microtubule |
IDA
IDA: Inferred from direct assay
|
17495026 | GOA |
| colocalizes with cytoplasmic side of plasma membrane |
IDA
IDA: Inferred from direct assay
|
20194890 | GOA |
| located in cytosol |
IDA
IDA: Inferred from direct assay
|
18313383 | GOA |
| colocalizes with midbody |
IDA
IDA: Inferred from direct assay
|
17495026 | GOA |
| located in spindle |
IDA
IDA: Inferred from direct assay
|
25134987 | GOA |
CYLD Protein Structure
CAP_GLY: CAP-Gly domain (127 - 202)
CAP_GLY: CAP-Gly domain (232 - 290)
CAP_GLY: CAP-Gly domain (469 - 536)
UCH: Ubiquitin carboxyl-terminal hydrolase (590 - 886)
- 0
- 200
- 400
- 600
- 800
- 953 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
ubiquitin carboxyl-terminal hydrolase CYLD |
|
CYLD Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
CYLD | Q9NQC7 | ITCH | Homo sapiens | Q96J02 | 22057290 | |
|
Intra
|
CYLD | Q9NQC7 | HDAC6 | Homo sapiens | Q9UBN7 | 19893491 | |
|
Intra
|
CYLD | Q9NQC7 | TUBA1A | Homo sapiens | Q71U36 | 19893491 | |
|
Intra
|
CYLD | Q9NQC7 | TUBA1A | Homo sapiens | Q71U36 | 19893491 | |
|
Intra
|
CYLD | Q9NQC7 | ITCH | Homo sapiens | Q96J02-2 | 22057290 | |
|
Intra
|
CYLD | Q9NQC7 | SPATA2 | Homo sapiens | Q9UM82 | 19615732 | |
|
Intra
|
CYLD | Q9NQC7 | SPATA2 | Homo sapiens | Q9UM82 | 24981860 | |
|
Intra
|
CYLD | Q9NQC7 | RIGI | Homo sapiens | O95786 | 18636086 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Brooke-Spiegler Syndrome |
|
|
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
|
| Trichoepithelioma, Multiple Familial, 1 |
|
|
| Cylindromatosis, Familial |
|
|
| Spiradenoma |
|
|
| Apocrine Sweat Gland Neoplasm |
|
|
| Plasma Cell Neoplasm |
|
|
| Epidermal Appendage Tumor |
|
|
| Anus Basaloid Carcinoma |
|
|
| Amyotrophic Lateral Sclerosis 8 |
|
|
| Salivary Gland Carcinoma |
|
|
| Malignant Spiradenoma |
|
|
| Basal Cell Carcinoma |
|
|
| Salivary Gland Adenoid Cystic Carcinoma |
|
|
| Myeloma, Multiple |
|
|
| Sweat Gland Benign Neoplasm |
|
|
| Osteonecrosis Of The Jaw |
|
|
| Frontotemporal Dementia |
|
|
| Adenoid Cystic Carcinoma |
|
|
| Salivary Gland Disease |
|
|
| Dementia |
|
|
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
|
| Sweat Gland Disease |
|
|
| Bartholin'S Gland Adenoid Cystic Carcinoma |
|
|
| Eccrine Adenocarcinoma |
|
|
| Glycogen Storage Disease Iv |
|
|
| Skin Benign Neoplasm |
|
|
| Inflammatory Bowel Disease |
|
|
| Lymphoma, Mucosa-Associated Lymphoid Type |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | CYLD | RGD | RGD:1308346 |
| Canis familiaris | CYLD | VGNC | VGNC:50293 |
| Macaca mulatta | CYLD | VGNC | VGNC:71581 |
| Bos taurus | CYLD | VGNC | VGNC:49141 |
| Mus musculus | CYLD | MGD | MGI:1921506 |
| Felis catus | CYLD | VGNC | VGNC:61320 |
| Others | CYLD | NCBI |