Details for: KRT14

Gene ID: 3861

Symbol: KRT14

Ensembl ID: ENSG00000186847

Description: keratin 14

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 119.0613
    Cell Significance Index: 354.0900
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: 71.8655
    Cell Significance Index: 617.5400
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 21.2954
    Cell Significance Index: 48.0100
  • Cell Name: reticular cell (CL0000432)
    Fold Change: 13.8644
    Cell Significance Index: 88.3300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 10.9803
    Cell Significance Index: 776.5700
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 9.4125
    Cell Significance Index: -20.6000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 7.9546
    Cell Significance Index: 108.5300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 7.6918
    Cell Significance Index: 3400.7200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 4.0635
    Cell Significance Index: 113.5600
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 2.1010
    Cell Significance Index: 18.6500
  • Cell Name: basal-myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 1.8626
    Cell Significance Index: 13.7900
  • Cell Name: epithelial cell of stratum germinativum of esophagus (CL1000447)
    Fold Change: 1.4591
    Cell Significance Index: 11.9200
  • Cell Name: epithelial cell of lacrimal sac (CL1000436)
    Fold Change: 1.4494
    Cell Significance Index: 10.4300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.3003
    Cell Significance Index: 167.9900
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.1677
    Cell Significance Index: 19.9600
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.9715
    Cell Significance Index: 15.7400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.9398
    Cell Significance Index: 44.1700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.8885
    Cell Significance Index: 169.1000
  • Cell Name: endothelial tip cell (CL0000704)
    Fold Change: 0.5744
    Cell Significance Index: 2.4700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4259
    Cell Significance Index: 42.1400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4154
    Cell Significance Index: 375.0900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.3360
    Cell Significance Index: 25.0400
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.2780
    Cell Significance Index: 7.9700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2412
    Cell Significance Index: 26.2400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2308
    Cell Significance Index: 37.5400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.2117
    Cell Significance Index: 12.7100
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.1311
    Cell Significance Index: 0.8700
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.1297
    Cell Significance Index: 1.6700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0885
    Cell Significance Index: 6.1200
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.0309
    Cell Significance Index: 0.4000
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.0230
    Cell Significance Index: 0.3200
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.0225
    Cell Significance Index: 0.1400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0069
    Cell Significance Index: 0.2000
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: 0.0014
    Cell Significance Index: 0.0600
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0018
    Cell Significance Index: -0.0900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0021
    Cell Significance Index: -0.1300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0040
    Cell Significance Index: -0.1800
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0076
    Cell Significance Index: -0.3300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0095
    Cell Significance Index: -17.8800
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0114
    Cell Significance Index: -0.1300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0201
    Cell Significance Index: -0.7100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0210
    Cell Significance Index: -15.8800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0218
    Cell Significance Index: -3.9300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0222
    Cell Significance Index: -16.4700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0244
    Cell Significance Index: -0.6100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0246
    Cell Significance Index: -13.8800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0264
    Cell Significance Index: -16.5100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0339
    Cell Significance Index: -18.5400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0395
    Cell Significance Index: -17.9400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0399
    Cell Significance Index: -5.1200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0435
    Cell Significance Index: -15.6200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0660
    Cell Significance Index: -4.1600
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.0755
    Cell Significance Index: -1.3400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0755
    Cell Significance Index: -15.9000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0769
    Cell Significance Index: -9.4500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0774
    Cell Significance Index: -2.4800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0839
    Cell Significance Index: -9.7800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0888
    Cell Significance Index: -17.8100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0892
    Cell Significance Index: -17.7000
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0922
    Cell Significance Index: -1.3900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0951
    Cell Significance Index: -2.0600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1064
    Cell Significance Index: -18.1700
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.1077
    Cell Significance Index: -2.6900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1131
    Cell Significance Index: -16.4400
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.1131
    Cell Significance Index: -1.6100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1209
    Cell Significance Index: -3.2900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1379
    Cell Significance Index: -18.9400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1437
    Cell Significance Index: -16.9500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1448
    Cell Significance Index: -6.7500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1591
    Cell Significance Index: -18.2300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1624
    Cell Significance Index: -16.5900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1708
    Cell Significance Index: -4.5600
  • Cell Name: progenitor cell (CL0011026)
    Fold Change: -0.2043
    Cell Significance Index: -2.1700
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2203
    Cell Significance Index: -4.5700
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.2242
    Cell Significance Index: -8.2300
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: -0.2519
    Cell Significance Index: -1.5500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2571
    Cell Significance Index: -19.7300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.3242
    Cell Significance Index: -6.9100
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.3603
    Cell Significance Index: -9.1800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.3755
    Cell Significance Index: -21.0700
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.4062
    Cell Significance Index: -6.2900
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: -0.4540
    Cell Significance Index: -2.8100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4610
    Cell Significance Index: -16.1500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.4709
    Cell Significance Index: -20.8300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.4867
    Cell Significance Index: -25.2800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.5140
    Cell Significance Index: -16.8300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.5266
    Cell Significance Index: -16.7700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.5480
    Cell Significance Index: -20.7500
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.5841
    Cell Significance Index: -12.7900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.5972
    Cell Significance Index: -17.5900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.6400
    Cell Significance Index: -16.8300
  • Cell Name: basal cell (CL0000646)
    Fold Change: -0.6479
    Cell Significance Index: -7.7100
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.6514
    Cell Significance Index: -18.5900
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.6561
    Cell Significance Index: -16.3600
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.6567
    Cell Significance Index: -16.3800
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.6999
    Cell Significance Index: -17.8800
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.7386
    Cell Significance Index: -17.8900
  • Cell Name: seromucus secreting cell (CL0000159)
    Fold Change: -0.7782
    Cell Significance Index: -16.2300
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.7874
    Cell Significance Index: -16.8300
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: -0.8068
    Cell Significance Index: -10.1600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** Keratin 14 is a type I keratin, which is expressed in a wide range of epithelial cells, including stratified squamous epithelium, pseudostratified columnar epithelium, and simple columnar epithelium. KRT14 is a member of the keratin family, which consists of approximately 60 different types of keratins. Keratins are characterized by their ability to form coiled-coil structures, resulting in the formation of intermediate filaments. These filaments are essential for maintaining cell shape, providing mechanical strength, and participating in cell-cell adhesion. **Pathways and Functions:** KRT14 plays a crucial role in various signaling pathways that regulate epithelial cell differentiation, proliferation, and survival. The primary pathways associated with KRT14 include: 1. **Cell-cell communication:** KRT14 interacts with other keratins and proteins to form type I keratin filaments, which are essential for maintaining cell-cell adhesion and communicating mechanical forces between adjacent cells. 2. **Epithelial cell differentiation:** KRT14 is involved in the regulation of epithelial cell differentiation, particularly in the development of stratified squamous epithelium. The expression of KRT14 is upregulated during keratinocyte differentiation, which is a critical process for the formation of the epidermis. 3. **Cytoskeleton organization:** KRT14 participates in the organization of the cytoskeleton, particularly in the formation of intermediate filaments. This is essential for maintaining cell shape, providing mechanical strength, and participating in cell-cell adhesion. 4. **Stem cell differentiation:** KRT14 is also involved in the regulation of stem cell differentiation, particularly in the development of epithelial tissues. **Clinical Significance:** Dysregulation of KRT14 has been implicated in various diseases, including: 1. **Epidermolysis bullosa:** Mutations in the KRT14 gene have been associated with epidermolysis bullosa, a genetic disorder characterized by blistering and skin fragility. 2. **Cancer:** Aberrant expression of KRT14 has been observed in various types of cancer, including breast, lung, and colon cancer. This suggests that KRT14 may play a role in tumorigenesis and cancer progression. 3. **Skin disorders:** Dysregulation of KRT14 has been implicated in various skin disorders, including psoriasis and atopic dermatitis. 4. **Neurological disorders:** KRT14 has also been implicated in neurological disorders, including multiple sclerosis and amyotrophic lateral sclerosis (ALS). In conclusion, Keratin 14 is a critical protein component of intermediate filaments that plays a crucial role in epithelial cell differentiation, organization, and structure. Its dysregulation has been implicated in various diseases, highlighting the importance of KRT14 in maintaining tissue homeostasis and preventing disease. Further research is needed to fully understand the functional roles of KRT14 in different cell types and diseases.

Genular Protein ID: 3768819188

Symbol: K1C14_HUMAN

Name: Keratin, type I cytoskeletal 14

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 6210150

Title: Remarkable conservation of structure among intermediate filament genes.

PubMed ID: 6210150

DOI: 10.1016/0092-8674(84)90456-2

PubMed ID: 2580298

Title: Complete sequence of a gene encoding a human type I keratin: sequences homologous to enhancer elements in the regulatory region of the gene.

PubMed ID: 2580298

DOI: 10.1073/pnas.82.6.1609

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 6186381

Title: The cDNA sequence of a human epidermal keratin: divergence of sequence but conservation of structure among intermediate filament proteins.

PubMed ID: 6186381

DOI: 10.1016/0092-8674(82)90424-x

PubMed ID: 8601736

Title: Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex.

PubMed ID: 8601736

DOI: 10.1111/1523-1747.ep12342985

PubMed ID: 1717157

Title: Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses.

PubMed ID: 1717157

DOI: 10.1016/0092-8674(91)90051-y

PubMed ID: 7526926

Title: A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex.

PubMed ID: 7526926

DOI: 10.1093/hmg/3.7.1171

PubMed ID: 9457912

Title: Characterization and chromosomal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle.

PubMed ID: 9457912

DOI: 10.1046/j.1523-1747.1998.00097.x

PubMed ID: 10852826

Title: Interaction of plakophilins with desmoplakin and intermediate filament proteins: an in vitro analysis.

PubMed ID: 10852826

DOI: 10.1242/jcs.113.13.2471

PubMed ID: 11684708

Title: Keratin attenuates tumor necrosis factor-induced cytotoxicity through association with TRADD.

PubMed ID: 11684708

DOI: 10.1083/jcb.200103078

PubMed ID: 11724817

Title: The nonhelical tail domain of keratin 14 promotes filament bundling and enhances the mechanical properties of keratin intermediate filaments in vitro.

PubMed ID: 11724817

DOI: 10.1083/jcb.200104063

PubMed ID: 14654843

Title: Proteomic characterization of the human centrosome by protein correlation profiling.

PubMed ID: 14654843

DOI: 10.1038/nature02166

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24940650

Title: Interaction of plectin with keratins 5 and 14: dependence on several plectin domains and keratin quaternary structure.

PubMed ID: 24940650

DOI: 10.1038/jid.2014.255

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 26758872

Title: Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy.

PubMed ID: 26758872

DOI: 10.1093/hmg/ddw001

PubMed ID: 27798626

Title: Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility.

PubMed ID: 27798626

DOI: 10.1038/ng.3701

PubMed ID: 32179842

Title: Serum lipids, retinoic acid and phenol red differentially regulate expression of keratins K1, K10 and K2 in cultured keratinocytes.

PubMed ID: 32179842

DOI: 10.1038/s41598-020-61640-9

PubMed ID: 22705788

Title: Structural basis for heteromeric assembly and perinuclear organization of keratin filaments.

PubMed ID: 22705788

DOI: 10.1038/nsmb.2330

PubMed ID: 31995743

Title: Structure-Function Analyses of a Keratin Heterotypic Complex Identify Specific Keratin Regions Involved in Intermediate Filament Assembly.

PubMed ID: 31995743

DOI: 10.1016/j.str.2020.01.002

PubMed ID: 1720261

Title: Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities.

PubMed ID: 1720261

DOI: 10.1126/science.1720261

PubMed ID: 7506606

Title: A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375.

PubMed ID: 7506606

DOI: 10.1093/hmg/2.11.1971

PubMed ID: 7682883

Title: A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.

PubMed ID: 7682883

DOI: 10.1002/humu.1380020107

PubMed ID: 7688405

Title: A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis.

PubMed ID: 7688405

DOI: 10.1111/1523-1747.ep12365079

PubMed ID: 7526933

Title: A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.

PubMed ID: 7526933

DOI: 10.1038/ng0493-327

PubMed ID: 7506097

Title: Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function.

PubMed ID: 7506097

DOI: 10.1038/ng1193-294

PubMed ID: 7561171

Title: Keratin 14 gene mutations in patients with epidermolysis bullosa simplex.

PubMed ID: 7561171

DOI: 10.1111/1523-1747.ep12323846

PubMed ID: 9284105

Title: Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex: increased severity of disease in a homozygote.

PubMed ID: 9284105

DOI: 10.1111/1523-1747.ep12336051

PubMed ID: 9804355

Title: Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14).

PubMed ID: 9804355

DOI: 10.1046/j.1523-1747.1998.00388.x

PubMed ID: 9804357

Title: Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex.

PubMed ID: 9804357

DOI: 10.1046/j.1523-1747.1998.00374.x

PubMed ID: 10583131

Title: A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex.

PubMed ID: 10583131

DOI: 10.1046/j.1365-2133.1999.03124.x

PubMed ID: 9989794

Title: Identification 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.

PubMed ID: 9989794

DOI: 10.1046/j.1523-1747.1999.00495.x

PubMed ID: 10730767

Title: Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential.

PubMed ID: 10730767

DOI: 10.1046/j.1365-2133.2000.03304.x

PubMed ID: 10733662

Title: Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot analysis.

PubMed ID: 10733662

DOI: 10.1046/j.1523-1747.2000.00928.x

PubMed ID: 10820403

Title: DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex.

PubMed ID: 10820403

DOI: 10.1002/(sici)1097-0223(200005)20:5<371::aid-pd818>3.0.co;2-5

PubMed ID: 11710919

Title: Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes.

PubMed ID: 11710919

DOI: 10.1046/j.0022-202x.2001.01508.x

PubMed ID: 12707098

Title: Epidermolysis bullosa simplex in Israel: clinical and genetic features.

PubMed ID: 12707098

DOI: 10.1001/archderm.139.4.498

PubMed ID: 12655565

Title: Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.

PubMed ID: 12655565

DOI: 10.1002/humu.9124

PubMed ID: 12603865

Title: Long-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.

PubMed ID: 12603865

DOI: 10.1046/j.1523-1747.2003.12052.x

PubMed ID: 14987259

Title: Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex.

PubMed ID: 14987259

DOI: 10.1111/j.0906-6705.2004.0120.x

PubMed ID: 16960809

Title: Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.

PubMed ID: 16960809

DOI: 10.1086/507792

PubMed ID: 16882168

Title: Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.

PubMed ID: 16882168

DOI: 10.1111/j.1365-2133.2006.07285.x

PubMed ID: 16786515

Title: Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.

PubMed ID: 16786515

DOI: 10.1002/humu.9437

PubMed ID: 21375516

Title: Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.

PubMed ID: 21375516

DOI: 10.1111/j.1365-2133.2010.10146.x

PubMed ID: 22832485

Title: Digenic inheritance in epidermolysis bullosa simplex.

PubMed ID: 22832485

DOI: 10.1038/jid.2012.229

PubMed ID: 24981776

Title: Novel KRT14 mutation causing epidermolysis bullosa simplex with variable phenotype.

PubMed ID: 24981776

DOI: 10.1111/exd.12478

PubMed ID: 26432462

Title: Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation.

PubMed ID: 26432462

DOI: 10.1007/s13353-015-0310-9

Sequence Information:

  • Length: 472
  • Mass: 51561
  • Checksum: 120BA30BA2F8E397
  • Sequence:
  • MTTCSRQFTS SSSMKGSCGI GGGIGGGSSR ISSVLAGGSC RAPSTYGGGL SVSSSRFSSG 
    GACGLGGGYG GGFSSSSSSF GSGFGGGYGG GLGAGLGGGF GGGFAGGDGL LVGSEKVTMQ 
    NLNDRLASYL DKVRALEEAN ADLEVKIRDW YQRQRPAEIK DYSPYFKTIE DLRNKILTAT 
    VDNANVLLQI DNARLAADDF RTKYETELNL RMSVEADING LRRVLDELTL ARADLEMQIE 
    SLKEELAYLK KNHEEEMNAL RGQVGGDVNV EMDAAPGVDL SRILNEMRDQ YEKMAEKNRK 
    DAEEWFFTKT EELNREVATN SELVQSGKSE ISELRRTMQN LEIELQSQLS MKASLENSLE 
    ETKGRYCMQL AQIQEMIGSV EEQLAQLRCE MEQQNQEYKI LLDVKTRLEQ EIATYRRLLE 
    GEDAHLSSSQ FSSGSQSSRD VTSSSRQIRT KVMDVHDGKV VSTHEQVLRT KN

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.