KRT6A

(Keratin 6A)

 

 Alias
  • CK6A 
  • 56 cytoskeletal type II keratin 
  • cytokeratin 6A 
  • keratin, epidermal type II, K6A 
  • Keratin, type II cytoskeletal 6A (Cytokeratin 6A) (CK 6A) (K6a keratin).

 Description

 (According to SwissProt)
  • The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. This KRT6 gene in particular encodes the most abundant isoform. Mutations in these genes have been associated with pachyonychia congenita. The type II cytokeratins are clustered in a region of chromosome 12q12-q13.

 Chromosomal location

 (According to LocusLink,    Genatlas, CGAP, progenetix)
  • Location:12q12-q13
  • Orientation: minus strand
  • Size: 6044 bp
  • 9 exons
  • DNA sequence (Human): NC_000012.

  • CGH (12q12-13):  Losses (%) -1.7  Gain (%) 7.8

 Mutations & SNP 

 (According to HGMD, OrCGBD, SNP)

 mRNA

(According to CGED, OrCGBD)

  • mRNA sequence (Human): NM_005554

  • Size: 2270 bp

  • cDNA libraries: KRT6A

 Protein

 (According to SwissProt,   Pfam, Swiss2D, PDB, dbPTM)
  • Size:563 amino acids; 59913 Da
  • Catalytic activity:

  • Subcellular location: intracellular, cytoplasm, cytoskeleton , intermed filament

  • Protein domains

 

                                     

Pathway & protein interactions

(According to BioCarta, DIP)

  • Pathway:

  • Protein interactions: 533N

 Tissue

 (According to GeneNote - 

 expression array results)

 Clinical

 (According to Cancer Genetics, OMIM)