Details for: KRT5

Gene ID: 3852

Symbol: KRT5

Ensembl ID: ENSG00000186081

Description: keratin 5

Associated with

Cells (max top 100)

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

  • Cell Name: progenitor cell (CL0011026)
    Fold Change: 4.75
    Marker Score: 30,595
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 3.86
    Marker Score: 4,375
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 3.69
    Marker Score: 18,137
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 3.59
    Marker Score: 26,744
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 3.38
    Marker Score: 1,146
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 3.27
    Marker Score: 7,995
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 3.24
    Marker Score: 5,312
  • Cell Name: basal cell (CL0000646)
    Fold Change: 2.84
    Marker Score: 3,660
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 2.79
    Marker Score: 2,936
  • Cell Name: epithelial cell of stratum germinativum of esophagus (CL1000447)
    Fold Change: 2.73
    Marker Score: 660
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 2.66
    Marker Score: 20,767
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 2.47
    Marker Score: 21,315
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 2.05
    Marker Score: 1,614
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 2.05
    Marker Score: 2,259
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 1.99
    Marker Score: 706
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.91
    Marker Score: 7,085
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 1.66
    Marker Score: 1,383
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.59
    Marker Score: 1,412
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 1.58
    Marker Score: 1,053
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 1.48
    Marker Score: 644
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.36
    Marker Score: 864
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 1.34
    Marker Score: 17,997
  • Cell Name: inflammatory cell (CL0009002)
    Fold Change: 1.1
    Marker Score: 473
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,813
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,039
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,407
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,426
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5,347
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2,740
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,288
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.82
    Marker Score: 1,490
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.8
    Marker Score: 615
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.8
    Marker Score: 395
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1,257
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 704
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 392
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.73
    Marker Score: 515
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 0.71
    Marker Score: 200
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.69
    Marker Score: 472
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 175
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.68
    Marker Score: 397
  • Cell Name: plasmacytoid dendritic cell, human (CL0001058)
    Fold Change: 0.65
    Marker Score: 170
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.64
    Marker Score: 590
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.64
    Marker Score: 389
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.61
    Marker Score: 177
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 0.61
    Marker Score: 196
  • Cell Name: club cell (CL0000158)
    Fold Change: 0.61
    Marker Score: 709
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 0.61
    Marker Score: 540
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.6
    Marker Score: 1,064
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 0.58
    Marker Score: 184
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.55
    Marker Score: 146
  • Cell Name: myoepithelial cell (CL0000185)
    Fold Change: 0.55
    Marker Score: 153
  • Cell Name: reticular cell (CL0000432)
    Fold Change: 0.53
    Marker Score: 194
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.5
    Marker Score: 100
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 0.49
    Marker Score: 181
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.48
    Marker Score: 200
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.47
    Marker Score: 119
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.47
    Marker Score: 885
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 0.46
    Marker Score: 319
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.46
    Marker Score: 273
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.41
    Marker Score: 3,555
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.4
    Marker Score: 389
  • Cell Name: phagocyte (CL0000234)
    Fold Change: 0.37
    Marker Score: 122
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 368
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.36
    Marker Score: 146
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.36
    Marker Score: 529
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.36
    Marker Score: 5,577
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.33
    Marker Score: 226
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.33
    Marker Score: 665
  • Cell Name: epithelial cell of thymus (CL0002293)
    Fold Change: 0.31
    Marker Score: 99
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: 0.3
    Marker Score: 116
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.29
    Marker Score: 193
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 0.28
    Marker Score: 145
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.27
    Marker Score: 158
  • Cell Name: regulatory T cell (CL0000815)
    Fold Change: 0.27
    Marker Score: 299
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.26
    Marker Score: 142
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.26
    Marker Score: 158
  • Cell Name: fibroblast of connective tissue of prostate (CL1000299)
    Fold Change: 0.26
    Marker Score: 65
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 0.26
    Marker Score: 104
  • Cell Name: immature B cell (CL0000816)
    Fold Change: 0.26
    Marker Score: 172
  • Cell Name: prostate stromal cell (CL0002622)
    Fold Change: 0.26
    Marker Score: 65
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.24
    Marker Score: 140
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.24
    Marker Score: 272
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.23
    Marker Score: 7,955
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: 0.23
    Marker Score: 126
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.22
    Marker Score: 1,324
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: 0.22
    Marker Score: 609
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 0.21
    Marker Score: 127
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 0.2
    Marker Score: 279
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.2
    Marker Score: 208
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.2
    Marker Score: 91
  • Cell Name: lung neuroendocrine cell (CL1000223)
    Fold Change: 0.19
    Marker Score: 55
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.19
    Marker Score: 93
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.19
    Marker Score: 1,230
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 0.18
    Marker Score: 74
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.18
    Marker Score: 83
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.18
    Marker Score: 169
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.17
    Marker Score: 600
  • Cell Name: brush cell of trachebronchial tree (CL0002075)
    Fold Change: 0.16
    Marker Score: 51

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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:** KRT5 is a small, acidic protein that is highly expressed in epithelial cells, particularly in stratified epithelia such as the skin, esophagus, and prostate. It is encoded by the KRT5 gene (ENSG00000186081) and is a homolog of the related protein keratin 1 (KRT1). KRT5 is characterized by its ability to form dimers with keratin 1, which then assemble into filaments that contribute to the mechanical strength of epithelial tissues. **Pathways and Functions:** KRT5 is involved in various cellular processes, including: 1. **Cell-cell communication**: KRT5 interacts with other keratin proteins and cell junction proteins to regulate cell-cell adhesion and communication. 2. **Cell junction organization**: KRT5 plays a crucial role in the formation and maintenance of desmosomes, which are strong cell-cell adhesion complexes that provide mechanical strength to epithelial tissues. 3. **Intermediate filament organization**: KRT5 is a key component of intermediate filaments, which provide mechanical strength and stability to epithelial cells. 4. **Keratinization**: KRT5 is involved in the process of keratinization, which is the transition of epithelial cells from a cuboidal to a squamous shape. 5. **Response to mechanical stimulus**: KRT5 is activated in response to mechanical stress, which triggers the assembly of intermediate filaments and the maintenance of epithelial cell integrity. **Clinical Significance:** Dysregulation of KRT5 has been implicated in various epithelial disorders, including: 1. **Epidermolysis bullosa simplex**: A genetic disorder characterized by blistering skin lesions due to mutations in the KRT5 gene. 2. **Epithelial skin cancers**: Overexpression of KRT5 has been observed in certain types of skin cancers, such as squamous cell carcinoma. 3. **Prostate cancer**: Altered expression of KRT5 has been associated with prostate cancer progression and metastasis. 4. **Thymic epithelial disorders**: Mutations in the KRT5 gene have been linked to thymic epithelial disorders, such as thymic hyperplasia and thymoma. In conclusion, KRT5 is a critical protein that plays a vital role in the structure and function of epithelial cells. Its dysregulation has been implicated in various epithelial disorders, highlighting the importance of this protein in maintaining epithelial homeostasis. Further research is needed to fully understand the mechanisms by which KRT5 regulates epithelial function and to develop therapeutic strategies for the treatment of epithelial disorders.

Genular Protein ID: 2182437991

Symbol: K2C5_HUMAN

Name: Keratin, type II cytoskeletal 5

UniProtKB Accession Codes:

P13647 Q6PI71 Q6UBJ0 Q8TA91

Database IDs:

AGR 1 Allergome 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CPTAC 4 CPTC 1 CTD 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 EMBL 8 Ensembl 1 ExpressionAtlas 1 GO 17 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 4 KEGG 1 MANE-Select 1 MIM 15 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 6 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 2 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 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2456903

Title: The sequence of the human epidermal 58-kD (#5) type II keratin reveals an absence of 5' upstream sequence conservation between coexpressed epidermal keratins.

PubMed ID: 2456903

DOI: 10.1089/dna.1.1988.7.337

PubMed ID: 2476664

Title: Isolation, sequence, and expression of a human keratin K5 gene: transcriptional regulation of keratins and insights into pairwise control.

PubMed ID: 2476664

DOI: 10.1128/mcb.9.9.3685-3697.1989

PubMed ID: 10903910

Title: Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5.

PubMed ID: 10903910

DOI: 10.1006/bbrc.2000.3110

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: 2447486

Title: Sequence and expression of a type II keratin, K5, in human epidermal cells.

PubMed ID: 2447486

DOI: 10.1128/mcb.8.1.486-493.1988

PubMed ID: 14723728

Title: A new keratin 5 mutation (K199T) in a family with Weber-Cockayne epidermolysis bullosa simplex.

PubMed ID: 14723728

DOI: 10.1111/j.1365-2230.2004.01434.x

PubMed ID: 2455002

Title: Isolation and characterization of a cDNA clone coding for human epidermal keratin K5. Sequence of the carboxyterminal half of this keratin.

PubMed ID: 2455002

DOI: 10.1111/1523-1747.ep12463286

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: 14654843

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

PubMed ID: 14654843

DOI: 10.1038/nature02166

PubMed ID: 15731013

Title: Identification of trichoplein, a novel keratin filament-binding protein.

PubMed ID: 15731013

DOI: 10.1242/jcs.01667

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: 28899683

Title: A missense mutation within the helix termination motif of KRT25 causes autosomal dominant woolly hair/hypotrichosis.

PubMed ID: 28899683

DOI: 10.1016/j.jid.2017.08.035

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: 1372711

Title: A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering.

PubMed ID: 1372711

DOI: 10.1038/356244a0

PubMed ID: 7686424

Title: Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Kobner type of epidermolysis bullosa simplex.

PubMed ID: 7686424

DOI: 10.1002/humu.1380020206

PubMed ID: 7684424

Title: Allelic variations of human keratins K4 and K5 provide polymorphic markers within the type II keratin gene cluster on chromosome 12.

PubMed ID: 7684424

DOI: 10.1111/1523-1747.ep12475671

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: 7688477

Title: The genetic basis of Weber-Cockayne epidermolysis bullosa simplex.

PubMed ID: 7688477

DOI: 10.1073/pnas.90.15.7414

PubMed ID: 7520042

Title: Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex.

PubMed ID: 7520042

DOI: 10.1242/jcs.107.4.765

PubMed ID: 7534039

Title: Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function.

PubMed ID: 7534039

PubMed ID: 8595431

Title: Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp328 to Val in linker 12 domain of keratin 5.

PubMed ID: 8595431

DOI: 10.1093/hmg/4.10.1999

PubMed ID: 8807337

Title: Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland.

PubMed ID: 8807337

DOI: 10.1002/(sici)1098-1004(1996)8:1<57::aid-humu8>3.0.co;2-m

PubMed ID: 8757772

Title: A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex.

PubMed ID: 8757772

DOI: 10.1111/1523-1747.ep12329741

PubMed ID: 8799157

Title: The genetic basis of epidermolysis bullosa simplex with mottled pigmentation.

PubMed ID: 8799157

DOI: 10.1073/pnas.93.17.9079

PubMed ID: 9036937

Title: Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients.

PubMed ID: 9036937

DOI: 10.1111/1523-1747.ep12286486

PubMed ID: 9406827

Title: A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara.

PubMed ID: 9406827

DOI: 10.1111/1523-1747.ep12341024

PubMed ID: 9740251

Title: A novel mutation in the L12 domain of keratin 5 in the Koebner variant of epidermolysis bullosa simplex.

PubMed ID: 9740251

DOI: 10.1046/j.1523-1747.1998.00308.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: 10494094

Title: Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients.

PubMed ID: 10494094

DOI: 10.1002/(sici)1096-8628(19991008)86:4<376::aid-ajmg12>3.0.co;2-w

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: 10782015

Title: K5 D328E: a novel missense mutation in the linker 12 domain of keratin 5 associated with epidermolysis bullosa simplex (Weber-Cockayne).

PubMed ID: 10782015

DOI: 10.1159/000022921

PubMed ID: 11407988

Title: A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes.

PubMed ID: 11407988

DOI: 10.1046/j.1523-1747.2001.01334.x

PubMed ID: 11973334

Title: Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly.

PubMed ID: 11973334

DOI: 10.1074/jbc.m200974200

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: 12925204

Title: A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema.

PubMed ID: 12925204

DOI: 10.1046/j.1523-1747.2003.12424.x

PubMed ID: 15347343

Title: A new mutation in the linker 12 domain of keratin 5 in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex.

PubMed ID: 15347343

DOI: 10.1111/j.1365-2230.2004.01565.x

PubMed ID: 15140024

Title: A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype.

PubMed ID: 15140024

DOI: 10.1111/j.0906-6705.2004.00171.x

PubMed ID: 16465624

Title: Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.

PubMed ID: 16465624

DOI: 10.1086/500850

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: 17855059

Title: Novel keratin 5 mutations in epidermolysis bullosa simplex: cases with unusual genotype-phenotype correlation.

PubMed ID: 17855059

DOI: 10.1016/j.jdermsci.2007.07.014

PubMed ID: 19220453

Title: A novel mutation (p.Thr198Ser) in the 1A helix of keratin 5 causes the localized variant of epidermolysis bullosa simplex.

PubMed ID: 19220453

DOI: 10.1111/j.1600-0625.2008.00820.x

PubMed ID: 19691749

Title: Epidermolysis bullosa nevus arising in a patient with Dowling-Meara type epidermolysis bullosa simplex with a novel K5 mutation.

PubMed ID: 19691749

DOI: 10.1111/j.1346-8138.2009.00674.x

PubMed ID: 20128788

Title: Epidermolysis bullosa simplex due to KRT5 mutations: mutation-related differences in cellular fragility and the protective effects of trimethylamine N-oxide in cultured primary keratinocytes.

PubMed ID: 20128788

DOI: 10.1111/j.1365-2133.2009.09615.x

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: 21623745

Title: Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.

PubMed ID: 21623745

DOI: 10.1111/j.1365-2133.2011.10428.x

PubMed ID: 21569119

Title: A novel heterozygous nonsense mutation of keratin 5 in a Chinese family with Dowling-Degos disease.

PubMed ID: 21569119

DOI: 10.1111/j.1468-3083.2011.04115.x

PubMed ID: 22437315

Title: Type 1 segmental Galli-Galli disease resulting from a previously unreported keratin 5 mutation.

PubMed ID: 22437315

DOI: 10.1038/jid.2012.72

PubMed ID: 22832485

Title: Digenic inheritance in epidermolysis bullosa simplex.

PubMed ID: 22832485

DOI: 10.1038/jid.2012.229

PubMed ID: 23450297

Title: A novel keratin 5 mutation in an African family with epidermolysis bullosa simplex indicates the importance of the amino acid located at the boundary site between the H1 and coil 1A domains.

PubMed ID: 23450297

DOI: 10.2340/00015555-1538

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

PubMed ID: 30240119

Title: A novel de novo mutation p.Ala428Asp in KRT5 gene as a cause of localized epidermolysis bullosa simplex.

PubMed ID: 30240119

DOI: 10.1111/exd.13788

PubMed ID: 31302245

Title: Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 'knock-out'.

PubMed ID: 31302245

DOI: 10.1016/j.matbio.2019.07.002

Sequence Information:

  • Length: 590
  • Mass: 62378
  • Checksum: E9D5318E01F55145
  • Sequence:
    • MSRQSSVSFR SGGSRSFSTA SAITPSVSRT SFTSVSRSGG GGGGGFGRVS LAGACGVGGY 
GSRSLYNLGG SKRISISTSG GSFRNRFGAG AGGGYGFGGG AGSGFGFGGG AGGGFGLGGG 
AGFGGGFGGP GFPVCPPGGI QEVTVNQSLL TPLNLQIDPS IQRVRTEERE QIKTLNNKFA 
SFIDKVRFLE QQNKVLDTKW TLLQEQGTKT VRQNLEPLFE QYINNLRRQL DSIVGERGRL 
DSELRNMQDL VEDFKNKYED EINKRTTAEN EFVMLKKDVD AAYMNKVELE AKVDALMDEI 
NFMKMFFDAE LSQMQTHVSD TSVVLSMDNN RNLDLDSIIA EVKAQYEEIA NRSRTEAESW 
YQTKYEELQQ TAGRHGDDLR NTKHEISEMN RMIQRLRAEI DNVKKQCANL QNAIADAEQR 
GELALKDARN KLAELEEALQ KAKQDMARLL REYQELMNTK LALDVEIATY RKLLEGEECR 
LSGEGVGPVN ISVVTSSVSS GYGSGSGYGG GLGGGLGGGL GGGLAGGSSG SYYSSSSGGV 
GLGGGLSVGG SGFSASSGRG LGVGFGSGGG SSSSVKFVST TSSSRKSFKS

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.