P02533Q14715Q53XY3Q9BUE3Q9UBN2Q9UBN3Q9UCY4K1C14_HUMANKeratin, type I cytoskeletal 14Cytokeratin-14CK-14Keratin-14K14KRT14Homo sapiensHumanEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomoRemarkable conservation of structure among intermediate filament genes.NUCLEOTIDE SEQUENCE [GENOMIC DNA]Complete sequence of a gene encoding a human type I keratin: sequences homologous to enhancer elements in the regulatory region of the gene.NUCLEOTIDE SEQUENCE [GENOMIC DNA]VARIANT TYR-63Cloning of human full-length CDSs in BD Creator(TM) system donor vector.NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]VARIANTS TYR-63 AND THR-94DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.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]VARIANTS TYR-63 AND THR-94The cDNA sequence of a human epidermal keratin: divergence of sequence but conservation of structure among intermediate filament proteins.NUCLEOTIDE SEQUENCE [MRNA] OF 64-472Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex.NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 117-132VARIANT EBS1A ASP-129Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses.NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 118-126VARIANTS EBS1A PHE-122; CYS-125 AND HIS-125A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex.NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 118-126VARIANT EBS1B PHE-122A novel mutation of cytokeratin 14 in a Japanese epidermolysis bullosa simplex family.NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 352-424VARIANT EBS1B THR-413Characterization and chromosomal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle.TISSUE SPECIFICITYInteraction of plakophilins with desmoplakin and intermediate filament proteins: an in vitro analysis.INTERACTION WITH PKP1 AND PKP2Keratin attenuates tumor necrosis factor-induced cytotoxicity through association with TRADD.INTERACTION WITH TRADDThe nonhelical tail domain of keratin 14 promotes filament bundling and enhances the mechanical properties of keratin intermediate filaments in vitro.FUNCTIONINTERACTION WITH KERATIN FILAMENTSSUBCELLULAR LOCATIONProteomic characterization of the human centrosome by protein correlation profiling.IDENTIFICATION BY MASS SPECTROMETRYKinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]Initial characterization of the human central proteome.IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]Interaction of plectin with keratins 5 and 14: dependence on several plectin domains and keratin quaternary structure.IDENTIFICATION IN A COMPLEX WITH KRT5INTERACTION WITH KRT5 AND PLECAn enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]N-terminome analysis of the human mitochondrial proteome.IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy.TISSUE SPECIFICITYStabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility.UBIQUITINATION BY THE BCR(KLHL24) COMPLEXINTERACTION WITH KLHL24Serum lipids, retinoic acid and phenol red differentially regulate expression of keratins K1, K10 and K2 in cultured keratinocytes.SUBCELLULAR LOCATIONStructural basis for heteromeric assembly and perinuclear organization of keratin filaments.X-RAY CRYSTALLOGRAPHY (3.0 ANGSTROMS) OF 295-422 IN COMPLEX WITH KRT5DISULFIDE BONDSUBCELLULAR LOCATIONStructure-Function Analyses of a Keratin Heterotypic Complex Identify Specific Keratin Regions Involved in Intermediate Filament Assembly.X-RAY CRYSTALLOGRAPHY (2.60 ANGSTROMS) OF 327-421 OF MUTANT ALA-367 IN COMPLEX WITH KRT5SUBCELLULAR LOCATIONMUTAGENESIS OF ARG-335; GLU-342; GLN-346; ARG-365; TYR-366 AND GLN-372Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities.VARIANT EBS1B PRO-384A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375.VARIANT EBS1C GLU-375 DELA mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.VARIANT EBS1B ARG-272A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis.VARIANT EBS1A HIS-125A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.VARIANT EBS1D ALA-144Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function.VARIANT EBS1A MET-270Keratin 14 gene mutations in patients with epidermolysis bullosa simplex.VARIANTS EBS1C ILE-119; ASP-274; ASN-377 AND CYS-388VARIANTS EBS1A ARG-120; CYS-125 AND SER-125Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex: increased severity of disease in a homozygote.VARIANT EBS1C ILE-119Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14).VARIANT EBS1A THR-119Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex.VARIANT EBS1C GLY-273A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex.VARIANT EBS1A CYS-125Genomic keratin 14 mutation detection in epidermolysis bullosa simplex.VARIANT EBS1B HIS-415VARIANT EBS1A GLN-419Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.VARIANT EBS1C ASN-116VARIANT EBS1A SER-123VARIANT EBS1B PRO-143VARIANT THR-94SEQUENCE REVISION TO 25 AND 43Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential.VARIANT EBS1A HIS-125Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot analysis.VARIANTS EBS1A CYS-125; HIS-125 AND GLN-419VARIANTS EBS1B ASP-247 AND HIS-415VARIANT EBS1C LYS-422DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex.VARIANTS EBS1A CYS-125 AND HIS-415VARIANT EBS1B PRO-134Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes.VARIANT EBS1A THR-119VARIANT EBS1B VAL-119Epidermolysis bullosa simplex in Israel: clinical and genetic features.VARIANT EBS1C CYS-415VARIANT EBS1A HIS-125VARIANT EBS1D HIS-388ERRATUM OF PUBMED:12707098Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.VARIANTS EBS1A PRO-130 AND GLN-419VARIANT EBS1C MET-408Long-range polymerase chain reaction for specific full-length amplification of the human keratin 14 gene and novel keratin 14 mutations in epidermolysis bullosa simplex patients.VARIANTS EBS1A SER-128 DEL AND PRO-416VARIANT EBS1C CYS-148Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex.VARIANTS EBS1A LYS-123 AND GLY-125VARIANT EBS1C LEU-133Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.INVOLVEMENT IN NFJSINVOLVEMENT IN DPREpidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.VARIANT EBS1C VAL-119VARIANTS EBS1A HIS-125 AND CYS-125Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.VARIANTS EBS1A LYS-123; CYS-125; HIS-125 AND PRO-417VARIANTS EBS1B LEU-133; THR-272 AND PRO-384VARIANTS EBS1C PRO-211 AND GLU-411 DELMutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.VARIANTS EBS1C ASN-377; THR-377; CYS-388; MET-408; GLU-411 DEL AND PHE-412VARIANTS EBS1A SER-123; CYS-125; PRO-130; ARG-272 AND GLN-419Digenic inheritance in epidermolysis bullosa simplex.VARIANT EBS1D HIS-388Novel KRT14 mutation causing epidermolysis bullosa simplex with variable phenotype.VARIANT GLN-418Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation.VARIANTS EBS1A THR-119; SER-123; CYS-125; HIS-125 AND ASP-129VARIANTS EBS1C MET-133; ALA-270; THR-272; THR-413 AND GLN-418VARIANTS EPIDERMOLYSIS BULLOSA SIMPLEX LEU-125; CYS-388 AND GLU-411 DELThe nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro.Heterotetramer of two type I and two type II keratins (By similarity). Forms a disulfide-linked heterodimer (via 2B domains) with KRT5 (via 2B domains) (PubMed:24940650, PubMed:22705788). Forms a heterodimer with KRT1; the interaction is more abundant in the absence of KRT5 (By similarity). Interacts with PLEC isoform 1C, when in a heterodimer with KRT5 (PubMed:24940650). Interacts with TRADD and with keratin filaments (PubMed:11684708). Associates with other type I keratins (PubMed:11724817). Interacts with EPPK1 (By similarity). Interacts with KLHL24 (PubMed:27798626). Interacts with PKP1 (via N-terminus) and PKP2 (PubMed:10852826).P02533Q9NYB9-2false3P02533Q9P2A4false3P02533A2BDD9false3P02533Q13515false3P02533Q8WZ74false3P02533Q9H0I2false3P02533O95995false3P02533O14964false3P02533Q9BVG8-5false3P02533P04264false3P02533P12035false3P02533P13647false8P02533P48668false3P02533Q14CN4false3P02533Q8N1N4false3P02533Q5XKE5false3P02533Q6KB66-2false3P02533Q14533false3P02533O43790false3P02533O43482false3P02533Q13835-2false2P02533P41219false3P02533Q3MIT2false3P02533O00560false3P02533Q969G3false3P02533P57075-2false3P02533Q8N6Y0false3CytoplasmNucleusExpressed in both as a filamentous pattern.Expressed in the corneal epithelium (at protein level) (PubMed:26758872). Detected in the basal layer, lowered within the more apically located layers specifically in the stratum spinosum, stratum granulosum but is not detected in stratum corneum. Strongly expressed in the outer root sheath of anagen follicles but not in the germinative matrix, inner root sheath or hair (PubMed:9457912). Found in keratinocytes surrounding the club hair during telogen (PubMed:9457912).A disulfide bond is formed between rather than within filaments and promotes the formation of a keratin filament cage around the nucleus.Ubiquitinated by the BCR(KLHL24) E3 ubiquitin ligase complex.Epidermolysis bullosa simplex 1A, generalized severe
EBS1A
A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS1A is an autosomal dominant form characterized by generalized intraepidermal skin blistering that begins and is very prominent at birth. EBS1A may be life-threatening in the first year of life. Tendency to blistering diminishes in adolescence.The disease is caused by variants affecting the gene represented in this entry.Epidermolysis bullosa simplex 1C, localized
EBS1C
A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS1C is an autosomal dominant form with intraepidermal blistering mainly restricted to hands and feet beginning in infancy. Nails may be thick and dystrophic.The disease is caused by variants affecting the gene represented in this entry.Epidermolysis bullosa simplex 1B, generalized intermediate
EBS1B
A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS1B is an autosomal dominant form characterized by generalized intraepidermal blistering beginning at birth. The tendency to blistering diminishes in adolescence, when it may become localized to hands and feet.The disease is caused by variants affecting the gene represented in this entry.Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
EBS1D
A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS1D is an autosomal recessive form characterized by blistering beginning at birth or early childhood. In some patients hands and feet are primarily affected, and in others blistering anywhere on the body may occur. In some patients the condition improves with age.The disease is caused by variants affecting the gene represented in this entry.Naegeli-Franceschetti-Jadassohn syndrome
NFJS
A rare autosomal dominant form of ectodermal dysplasia. The cardinal features are absence of dermatoglyphics (fingerprints), reticular cutaneous hyperpigmentation (starting at about the age of 2 years without a preceding inflammatory stage), palmoplantar keratoderma, hypohidrosis with diminished sweat gland function and discomfort provoked by heat, nail dystrophy, and tooth enamel defects.The disease is caused by variants affecting the gene represented in this entry.Dermatopathia pigmentosa reticularis
DPR
A rare ectodermal dysplasia characterized by lifelong persistent reticulate hyperpigmentation, non-cicatricial alopecia, and nail dystrophy. Variable features include adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis.The disease is caused by variants affecting the gene represented in this entry.There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).Belongs to the intermediate filament family.3D-structureCoiled coilCytoplasmDisease variantDisulfide bondEctodermal dysplasiaEpidermolysis bullosaIntermediate filamentKeratinNucleusPalmoplantar keratodermaPhosphoproteinReference proteomeUbl conjugationCYATKNMIMTMVQRLFNKNSRCRGRHRLRSYDLPVAVLVMRPLPEARCRPEKADVAVMMRMTDGADINITLPRCRHLMIFATYCYHRPRPLQLQEKRAEAQARAYAQAGASNMTTCSRQFTSSSSMKGSCGIGGGIGGGSSRISSVLAGGSCRAPSTYGGGLSVSSSRFSSGGACGLGGGYGGGFSSSSSSFGSGFGGGYGGGLGAGLGGGFGGGFAGGDGLLVGSEKVTMQNLNDRLASYLDKVRALEEANADLEVKIRDWYQRQRPAEIKDYSPYFKTIEDLRNKILTATVDNANVLLQIDNARLAADDFRTKYETELNLRMSVEADINGLRRVLDELTLARADLEMQIESLKEELAYLKKNHEEEMNALRGQVGGDVNVEMDAAPGVDLSRILNEMRDQYEKMAEKNRKDAEEWFFTKTEELNREVATNSELVQSGKSEISELRRTMQNLEIELQSQLSMKASLENSLEETKGRYCMQLAQIQEMIGSVEEQLAQLRCEMEQQNQEYKILLDVKTRLEQEIATYRRLLEGEDAHLSSSQFSSGSQSSRDVTSSSRQIRTKVMDVHDGKVVSTHEQVLRTKN
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