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Background: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],
| Target | CYLD |
| Reactivity | Human,Mouse,Rat |
| Applications | WB,IHC,IF,IP,ELISA |
| MW(Calculated) | 107kD |
| MW(Observed) | 110kD |
| Host Species | Rabbit |
| Isotype | IgG,Kappa |
| Modification | Unmodified |
| Recommended Dilution Ratio | IHC 1:200-1:1000;WB 1:2000-1:10000;IF 1:200-1:1000;ELISA 1:5000-1:20000;IP 1:50-1:200; |
| Formulation | PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA |
| Source | |
| Purification | Protein A |
| Storage | -15°C to -25°C/1 year(Do not lower than -25°C) |
| Clonality | Monoclonal |
| Clone Number | PT1640R |
| Specificity | Endogenous |
| Gene Name | CYLD CYLD1 KIAA0849 HSPC057 |
| Protein Name | Ubiquitin carboxyl-terminal hydrolase CYLD |
| Other Name | Ubiquitin carboxyl-terminal hydrolase CYLD;Deubiquitinating enzyme CYLD;Ubiquitin thioesterase CYLD;Ubiquitin-specific-processing protease CYLD; |
| Organism-1 | Human |
| Gene ID-1 | 1540 |
| SwissProt-1 | Q9NQC7 |
| Organism-2 | Mouse |
| Gene ID-2 | 74256 |
| SwissProt-2 | Q80TQ2 |
| Organism-3 | Rat |
| Gene ID-3 | 312937 |
| SwissProt-3 | Q66H62 |
| Function | Catalytic activity:Ubiquitin C-terminal thioester + H(2)O = ubiquitin + a thiol.,Disease:Defects in CYLD are the cause of Brooke-Spiegler syndrome (BRSS) [MIM:605041]. BRSS is an autosomal dominant disorder characterized by the appearance of multiple skin appendage tumors such as cylindroma, trichoepithelioma, and spiradenoma. These tumors are typically located in the head and neck region, appear in early adulthood, and gradually increase in size and number throughout life.,Disease:Defects in CYLD are the cause of familial cylindromatosis [MIM:132700]; also known as Ancell-Spiegler cylindromas or turban tumor syndrome or dermal eccrine cylindromatosis. CYLD is an autosomal dominant and highly tumor type-specific disorder. The tumors (known as cylindromas because of their characteristic microscopic architecture) are believed to arise from or recapitulate the appearance of the eccrine or apocrine cells of the skin that secrete sweat and scent respectively. Cylindromas arise predominantly in hairy parts of the body with approximately 90% on the head and neck. The development of a confluent mass which may ulcerate or become infected has led to the designation "turban tumor syndrome". The skin tumors show differentiation in the direction of hair structures, hence the synonym trichoepithelioma.,Disease:Defects in CYLD are the cause of multiple familial trichoepithelioma type 1 (MFT1) [MIM:601606]; also known as epithelioma adenoides cysticum of Brooke (EAC) or hereditary multiple benign cystic epithelioma or Brooke-Fordyce trichoepitheliomas. MFT1 is an autosomal dominant dermatosis characterized by the presence of many skin tumors predominantly on the face. Since histologic examination shows dermal aggregates of basaloid cells with connection to or differentiation toward hair follicles, this disorder has been thought to represent a benign hamartoma of the pilosebaceous apparatus. Trichoepitheliomas can degenerate into basal cell carcinoma.,Function:Negative regulator of TRAF2 and NF-kappa-B signaling pathway. Has deubiquitinating activity that is directed towards non-'Lys-48'-linked polyubiquitin chains. The inhibition of NF-kappa-B activation is mediated at least in part, by the deubiquitination and inactivation of TRAF2 and, to a lesser extent, TRAF6.,similarity:Belongs to the peptidase C67 family.,similarity:Contains 2 CAP-Gly domains.,subunit:Interacts with NEMO, TRAF2 and TRIP.,tissue specificity:Detected in fetal brain, testis, and skeletal muscle, and at a lower level in adult brain, leukocytes, liver, heart, kidney, spleen, ovary and lung. Isoform 2 is found in all tissues except kidney., |
| Cellular Localization | Cytoplasm . Cytoplasm, perinuclear region. Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome . Cytoplasm, cytoskeleton, spindle . Cytoplasm, cytoskeleton, cilium basal body . Detected at the microtubule cytoskeleton during interphase. Detected at the midbody during telophase. During metaphase, it remains localized to the centrosome but is also present along the spindle (PubMed:25134987). . |
| Tissue Expression | Detected in fetal brain, testis, and skeletal muscle, and at a lower level in adult brain, leukocytes, liver, heart, kidney, spleen, ovary and lung. Isoform 2 is found in all tissues except kidney. |
| Unnamed: 31 | |
| SwissProt-3.1 | |
| Organism-4 | |
| Gene ID-4 | |
| SwissProt-4 | |
| Cellular Localization.1 |
