CYLD

(cylindromatosis (turban tumor syndrome))

 

  • Alias                                 (According to NCBI)

 

  
  • CDMT,  ,
  • CYLDI,
  • EAC,
  • FLJ20180,
  • FLJ31664,
  • FLJ78684,
  • HSPC057,
  • KIAA0849,
  • USPL2.
  • deubiquitinating enzyme CYLD;
  • ubiquitin carboxyl-terminal hydrolase CYLD;
  •  ubiquitin specific peptidase like 2;
  • ubiquitin thiolesterase CYLD;
  • ubiquitin-specific-processing protease CYLD

 
  • 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.
  • Location: 16q12.1
  • Size: 59886 bp
  • exons:
  • Transcript variant1: 17
  • Transcript variant2: 16
  • Transcript variant3: 16
  • DNA sequence (Human): NC_000016.8

  • CGH (8q22):  Losses (%) -2.2   Gain (%)  4.5  

  • Mutations and SNPs (According to HGMD and SNP)

 

 
  • m-RNA                       (According to NCBI and CGAP)

 

  • mRNA sequence (Human):

  • Transcript variant1: NM_015247.2

  • Transcript variant2: NM_001042355.1

  • Transcript variant3: NM_001042412.1

  • Size:

  • Transcript variant1: 8730

  • Transcript variant2: 8584

  • Transcript variant3: 8608 bp

  • cDNA libraries:

  • Size: 956 amino acids; 107316 Da
  • Catalytic activity: Ubiquitin C-terminal thioester + H(2)O = ubiquitin + a thiol.

  • Subcellular location: Cytoplasm, perinuclear region.

  • Protein domains

     

 

  • Pathway:

                        

  • Protein interactions: CYLD
  • Clinical                            (According to OMIM, PubMed)