Details for: KRT14

Gene ID: 3861

Symbol: KRT14

Ensembl ID: ENSG00000186847

Description: keratin 14

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 8.44
    Marker Score: 12121
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 6.69
    Marker Score: 8268
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 3.98
    Marker Score: 19528
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 3.44
    Marker Score: 1164
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 3.34
    Marker Score: 2219
  • Cell Name: reticular cell (CL0000432)
    Fold Change: 3.2
    Marker Score: 1167
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 2.73
    Marker Score: 6657
  • Cell Name: epithelial cell of stratum germinativum of esophagus (CL1000447)
    Fold Change: 2.64
    Marker Score: 636
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 2.59
    Marker Score: 919
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 2.44
    Marker Score: 4000
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 2.42
    Marker Score: 1618
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 2.22
    Marker Score: 2341
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 2.18
    Marker Score: 2467
  • Cell Name: inflammatory cell (CL0009002)
    Fold Change: 1.95
    Marker Score: 838
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 1.61
    Marker Score: 12572
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 1.36
    Marker Score: 1132
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.35
    Marker Score: 711
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.29
    Marker Score: 11079
  • Cell Name: basal cell (CL0000646)
    Fold Change: 1.27
    Marker Score: 1645
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.26
    Marker Score: 853
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 1.2
    Marker Score: 380
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 1.19
    Marker Score: 675
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.17
    Marker Score: 1041
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 1.15
    Marker Score: 502
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.05
    Marker Score: 1866
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71822
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48047
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 507
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 460
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 372
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5289
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.93
    Marker Score: 531
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2742
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 324
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5290
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.85
    Marker Score: 355
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0.81
    Marker Score: 10900
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1268
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 707
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 395
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.76
    Marker Score: 1169
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 0.75
    Marker Score: 211
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.73
    Marker Score: 3049
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.72
    Marker Score: 460
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.7
    Marker Score: 691
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.58
    Marker Score: 147
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.57
    Marker Score: 404
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 0.56
    Marker Score: 322
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 450
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 0.56
    Marker Score: 807
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.54
    Marker Score: 172
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.53
    Marker Score: 122
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.53
    Marker Score: 350
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.51
    Marker Score: 1981
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.51
    Marker Score: 17214
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 0.49
    Marker Score: 388
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 0.49
    Marker Score: 180
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.47
    Marker Score: 521
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.46
    Marker Score: 276
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.45
    Marker Score: 264
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.44
    Marker Score: 745
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: 0.43
    Marker Score: 167
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.4
    Marker Score: 166
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 0.36
    Marker Score: 87
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.36
    Marker Score: 680
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 0.35
    Marker Score: 158
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.35
    Marker Score: 163.5
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.32
    Marker Score: 1559
  • Cell Name: myoepithelial cell (CL0000185)
    Fold Change: 0.32
    Marker Score: 89
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.31
    Marker Score: 154
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 0.31
    Marker Score: 265
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.3
    Marker Score: 618.5
  • Cell Name: phagocyte (CL0000234)
    Fold Change: 0.29
    Marker Score: 95
  • Cell Name: fibroblast of connective tissue of prostate (CL1000299)
    Fold Change: 0.28
    Marker Score: 69
  • Cell Name: prostate stromal cell (CL0002622)
    Fold Change: 0.27
    Marker Score: 69
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.27
    Marker Score: 559
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.26
    Marker Score: 589
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.26
    Marker Score: 76
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: 0.25
    Marker Score: 114
  • Cell Name: sebaceous gland cell (CL2000021)
    Fold Change: 0.25
    Marker Score: 76
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.24
    Marker Score: 392
  • Cell Name: immature B cell (CL0000816)
    Fold Change: 0.24
    Marker Score: 161
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.24
    Marker Score: 215
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.24
    Marker Score: 175
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.24
    Marker Score: 3767
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: 0.24
    Marker Score: 133
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 0.23
    Marker Score: 208
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.23
    Marker Score: 93
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 64
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 73
  • Cell Name: enterocyte of epithelium proper of ileum (CL1000342)
    Fold Change: 0.21
    Marker Score: 62
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 0.21
    Marker Score: 89
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 0.21
    Marker Score: 286
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.21
    Marker Score: 198
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.18
    Marker Score: 125
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.18
    Marker Score: 101
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.18
    Marker Score: 82
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.18
    Marker Score: 103

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Other Information

**Key characteristics** - KRT14 is a transmembrane protein that is primarily expressed in epithelial cells. - It is a type I keratin, which is characterized by a single transmembrane domain and a conserved cysteine-rich hinge region. - KRT14 is a key component of the cornified envelope, a specialized cell layer that protects and supports epithelial cells. - It is also involved in the assembly of the intermediate filament bundle, a cytoskeletal network that provides structural support for epithelial cells. **Pathways and functions** - KRT14 is involved in cell-cell communication by interacting with other keratin proteins, such as KRT6 and KRT11. - It is also involved in cell junction organization by forming part of the desmoglein family of cell adhesion molecules. - KRT14 is essential for the formation of the cornified envelope, a specialized cell layer that protects and supports epithelial cells. - It is also involved in the assembly of the intermediate filament bundle, a cytoskeletal network that provides structural support for epithelial cells. **Clinical significance** Mutations in KRT14 have been linked to several human diseases, including psoriasis, acne, and cancer. In psoriasis, KRT14 mutations lead to the formation of abnormal skin lesions that are characterized by inflammation and hyperpigmentation. In acne, KRT14 mutations can lead to the formation of comedones, which are small, fluid-filled blisters that appear on the face and neck. KRT14 is a promising target for the treatment of skin diseases. Antibodies against KRT14 have been shown to be effective in reducing inflammation and scarring in animal models of psoriasis and acne.

Genular Protein ID: 3768819188

Symbol: K1C14_HUMAN

Name: Keratin, type I cytoskeletal 14

UniProtKB Accession Codes:

P02533 Q14715 Q53XY3 Q9BUE3 Q9UBN2 Q9UBN3 Q9UCY4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 DrugBank 2 EMBL 14 Ensembl 1 GO 18 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 13 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 7 OrthoDB 1 PANTHER 2 PDB 5 PDBsum 2 PIR 1 PRIDE 1 PRINTS 1 PRO 1 PROSITE 2 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 3 RefSeq 1 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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. For the full schema, download it here.