ID:K2C6A_HUMAN DESCRIPTION: RecName: Full=Keratin, type II cytoskeletal 6A; AltName: Full=Cytokeratin-6A; Short=CK-6A; AltName: Full=Cytokeratin-6D; Short=CK-6D; AltName: Full=Keratin-6A; Short=K6A; AltName: Full=Type-II keratin Kb6; AltName: Allergen=Hom s 5; SUBUNIT: Heterodimer of a type I and a type II keratin. KRT6 isomers associate with KRT16 and/or KRT17. Interacts with TCHP. INTERACTION: Q15834:CCDC85B; NbExp=2; IntAct=EBI-702198, EBI-739674; TISSUE SPECIFICITY: Constitutively expressed in distinct types of epithelia such as those in oral mucosa, esophagus, papillae of tongue and hair follicle outer root sheath. DISEASE: Defects in KRT6A are a cause of pachyonychia congenita type 1 (PC1) [MIM:167200]; also known as Jadassohn-Lewandowsky syndrome. PC1 is an autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma, follicular hyperkeratosis, and oral leukokeratosis. Hyperhidrosis of the hands and feet is usually present. ALLERGEN: Causes an allergic reaction in human. Binds to IgE from atopic dermatitis (AD) patients. Identified as an IgE autoantigen in atopic dermatitis (AD) patients with severe skin manifestations. MISCELLANEOUS: There are at least six isoforms of human type II keratin-6 (K6), K6A being the most abundant representing about 77% of all forms found in epithelia. MISCELLANEOUS: There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40- 55 and 56-70 kDa, respectively). SIMILARITY: Belongs to the intermediate filament family. WEB RESOURCE: Name=Human Intermediate Filament Mutation Database; URL="http://www.interfil.org"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KRT6A";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P02538
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005198 structural molecule activity GO:0005200 structural constituent of cytoskeleton GO:0005515 protein binding
Biological Process: GO:0001899 negative regulation of cytolysis by symbiont of host cells GO:0002009 morphogenesis of an epithelium GO:0007010 cytoskeleton organization GO:0008284 positive regulation of cell proliferation GO:0030154 cell differentiation GO:0031424 keratinization GO:0042060 wound healing GO:0050830 defense response to Gram-positive bacterium GO:0051801 cytolysis in other organism involved in symbiotic interaction GO:0070268 cornification GO:2000536 negative regulation of entry of bacterium into host cell
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
