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. This type II cytokeratin is specifically expressed in the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. 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:  5883 bp
• 9  exons
• DNA sequence (Human): NC_000012

• CGH (12q12-13):  Losses (%) -3.8  Gain (%)  1.3  Amplifications (%)  0.2

 Mutations & SNP 

 (According to HGMD, OrCGBD, SNP)

• HGMD : KRT5
• SNPs: KRT5

 mRNA

(According to CGED, OrCGBD)

• mRNA sequence (Human): NM_000424

• Size:  2301 bp

• cDNA libraries: KRT5

 Protein

 (According to SwissProt,   Pfam, Swiss2D, PDB, dbPTM)

• Size:590 amino acids; 62461 Da
• Catalytic activity:

• Subcellular location: intracellular,cytoplasm,cytoskeleton

• Protein domains

• Protein sequence (Human): P13647

• Homologous genes: KRT5

• 2D PAGE:P13647

• 3D Structure:

• PTM: KRT5

Pathway & protein interactions

(According to BioCarta, DIP)

• Pathway: Keratinocyte Differentiation

• Protein interactions: 39N

 Tissue

 (According to GeneNote - 

 expression array results)

• Tissue expression: PubMed Reference
• Human Protein Atlas (HPA): CAB000027

 Clinical

 (According to Cancer Genetics, OMIM)

• OMIM: 148040

• PubMed: Early detection      Diagnosis         Prognosis        Therapy