P48668A1L4L5P48666Q2TAZ9Q7RTN9K2C6C_HUMANKeratin, type II cytoskeletal 6CCytokeratin-6CCK-6CCytokeratin-6ECK-6EKeratin K6hKeratin-6CK6CType-II keratin Kb12KRT6CKRT6EHomo sapiensHumanEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomoCloning and characterization of multiple human genes and cDNAs encoding highly related type II keratin 6 isoforms.NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]VARIANTS ASN-227 AND ILE-481The finished DNA sequence of human chromosome 12.NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]VARIANT GLN-182PROTEIN SEQUENCE OF 2-9; 16-24; 31-40; 43-86; 169-189; 195-204; 208-222; 224-369; 376-386; 425-436; 456-475 AND 534-550CLEAVAGE OF INITIATOR METHIONINEACETYLATION AT ALA-2IDENTIFICATION BY MASS SPECTROMETRYGenes for intermediate filament proteins and the draft sequence of the human genome: novel keratin genes and a surprisingly high number of pseudogenes related to keratin genes 8 and 18.IDENTIFICATIONPhosphorylation of human keratin 8 in vivo at conserved head domain serine 23 and at epidermal growth factor-stimulated tail domain serine 431.PHOSPHORYLATION AT SER-60Keratin K6c mutations cause focal palmoplantar keratoderma.INVOLVEMENT IN PPKNEFDVARIANT PPKNEFD ASN-172 DELDiffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation.INVOLVEMENT IN PPKNEFDVARIANT PPKNEFD LYS-472Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratoderma.VARIANT PPKNEFD LYS-472CHARACTERIZATION OF VARIANT PPKNEFD LYS-472Heterodimer of a type I and a type II keratin. KRT6 isomers associate with KRT16 and/or KRT17.P48668Q08043false3P48668Q08379false3P48668Q9BVG8false3P48668Q9BVG8-5false3P48668A1A4E9false3P48668P02533false3P48668P19012false3P48668P08779false3P48668P05783false4P48668P08727false3P48668Q2M2I5false3P48668Q7Z3Z0false3P48668Q7Z3Y9false5P48668Q7Z3Y8false3P48668Q15323false6P48668Q14525false3P48668O76011false3P48668Q92764false3P48668O76013-2false3P48668O76014false3P48668O76015false6P48668Q6A162false6P48668Q9UBB9false3P48668Q9BYV2false6Constitutively expressed in distinct types of epithelia such as those in oral mucosa, esophagus, papillae of tongue and hair follicle outer root sheath.Palmoplantar keratoderma, non-epidermolytic, focal or diffuse
PPKNEFD
A dermatological disorder characterized by non-epidermolytic abnormal thickening of the skin on the palms and soles. Diffuse palmoplantar keratoderma is characterized by uniform involvement of the palmoplantar surface, while the focal form consists of localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction.The disease is caused by variants affecting the gene represented in this entry.There are at least six isoforms of human type II keratin-6 (K6).There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).Belongs to the intermediate filament family.AcetylationCoiled coilDirect protein sequencingDisease variantIntermediate filamentKeratinPalmoplantar keratodermaPhosphoproteinReference proteomeRQSNEKVIGRGAGDDENGLFSNVIIVIVMASTSTTIRSHSSSRRGFSANSARLPGVSRSGFSSISVSRSRGSGGLGGACGGAGFGSRSLYGLGGSKRISIGGGSCAISGGYGSRAGGSYGFGGAGSGFGFGGGAGIGFGLGGGAGLAGGFGGPGFPVCPPGGIQEVTVNQSLLTPLNLQIDPAIQRVRAEEREQIKTLNNKFASFIDKVRFLEQQNKVLDTKWTLLQEQGTKTVRQNLEPLFEQYINNLRRQLDSIVGERGRLDSELRNMQDLVEDLKNKYEDEINKRTAAENEFVTLKKDVDAAYMNKVELQAKADTLTDEINFLRALYDAELSQMQTHISDTSVVLSMDNNRNLDLDSIIAEVKAQYEEIAQRSRAEAESWYQTKYEELQVTAGRHGDDLRNTKQEIAEINRMIQRLRSEIDHVKKQCASLQAAIADAEQRGEMALKDAKNKLEGLEDALQKAKQDLARLLKEYQELMNVKLALDVEIATYRKLLEGEECRLNGEGVGQVNVSVVQSTISSGYGGASGVGSGLGLGGGSSYSYGSGLGIGGGFSSSSGRAIGGGLSSVGGGSSTIKYTTTSSSSRKSYKH
Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms Distributed under the Creative Commons Attribution (CC BY 4.0) License