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: 75.3494
Cell Significance Index: 224.0900 - Cell Name: oral mucosa squamous cell (CL1001576)
Fold Change: 51.2068
Cell Significance Index: 440.0200 - Cell Name: epidermal cell (CL0000362)
Fold Change: 20.0179
Cell Significance Index: 45.1300 - Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: 7.6773
Cell Significance Index: 3394.3000 - Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: 7.6301
Cell Significance Index: 207.6900 - Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: 7.5576
Cell Significance Index: 211.2100 - Cell Name: sebum secreting cell (CL0000317)
Fold Change: 6.5634
Cell Significance Index: 464.1900 - Cell Name: epidermal Langerhans cell (CL0002457)
Fold Change: 4.9987
Cell Significance Index: -10.9400 - Cell Name: corneal epithelial cell (CL0000575)
Fold Change: 4.7474
Cell Significance Index: 67.5800 - Cell Name: cortical thymic epithelial cell (CL0002364)
Fold Change: 3.4267
Cell Significance Index: 28.3400 - Cell Name: basal cell of urothelium (CL1000486)
Fold Change: 2.8980
Cell Significance Index: 356.3400 - Cell Name: epithelial cell of esophagus (CL0002252)
Fold Change: 2.8412
Cell Significance Index: 18.8600 - Cell Name: basal epithelial cell of prostatic duct (CL0002236)
Fold Change: 2.4683
Cell Significance Index: 21.9100 - Cell Name: epithelial cell of lacrimal sac (CL1000436)
Fold Change: 2.4513
Cell Significance Index: 17.6400 - Cell Name: inflammatory cell (CL0009002)
Fold Change: 2.2054
Cell Significance Index: 12.6500 - Cell Name: epithelial cell of urethra (CL1000296)
Fold Change: 2.0820
Cell Significance Index: 12.8900 - Cell Name: corneal endothelial cell (CL0000132)
Fold Change: 1.1418
Cell Significance Index: 17.3700 - Cell Name: lactocyte (CL0002325)
Fold Change: 0.9800
Cell Significance Index: 126.6200 - Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 0.9458
Cell Significance Index: 170.5000 - Cell Name: basal-myoepithelial cell of mammary gland (CL0002324)
Fold Change: 0.9009
Cell Significance Index: 6.6700 - Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: 0.6322
Cell Significance Index: 29.7200 - Cell Name: epithelial cell of thymus (CL0002293)
Fold Change: 0.3446
Cell Significance Index: 2.6500 - Cell Name: epithelial cell of stratum germinativum of esophagus (CL1000447)
Fold Change: 0.2999
Cell Significance Index: 2.4500 - Cell Name: keratinocyte (CL0000312)
Fold Change: 0.0913
Cell Significance Index: 2.2800 - Cell Name: basal cell of epithelium of trachea (CL1000348)
Fold Change: 0.0779
Cell Significance Index: 0.6700 - Cell Name: eukaryotic cell (CL0000255)
Fold Change: 0.0734
Cell Significance Index: 3.1900 - Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: 0.0337
Cell Significance Index: 0.4600 - Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: 0.0014
Cell Significance Index: 1.0300 - Cell Name: fibro/adipogenic progenitor cell (CL0009099)
Fold Change: -0.0065
Cell Significance Index: -0.3300 - Cell Name: anterior lens cell (CL0002223)
Fold Change: -0.0113
Cell Significance Index: -20.8900 - Cell Name: neuron associated cell (CL0000095)
Fold Change: -0.0122
Cell Significance Index: -0.5000 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: -0.0135
Cell Significance Index: -20.7400 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: -0.0154
Cell Significance Index: -20.8900 - Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0180
Cell Significance Index: -13.3000 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: -0.0204
Cell Significance Index: -12.9500 - Cell Name: cell in vitro (CL0001034)
Fold Change: -0.0211
Cell Significance Index: -11.5300 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0250
Cell Significance Index: -14.1000 - Cell Name: odontoblast (CL0000060)
Fold Change: -0.0402
Cell Significance Index: -5.1500 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.0415
Cell Significance Index: -3.0900 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0424
Cell Significance Index: -19.2500 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.0660
Cell Significance Index: -19.0000 - Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.0673
Cell Significance Index: -14.1800 - Cell Name: neoplastic cell (CL0001063)
Fold Change: -0.0679
Cell Significance Index: -13.4700 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: -0.0814
Cell Significance Index: -16.3300 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.0893
Cell Significance Index: -12.9800 - Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: -0.0936
Cell Significance Index: -15.9900 - Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: -0.1179
Cell Significance Index: -13.9000 - Cell Name: abnormal cell (CL0001061)
Fold Change: -0.1221
Cell Significance Index: -12.4700 - Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: -0.1232
Cell Significance Index: -14.3600 - Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: -0.1294
Cell Significance Index: -3.7100 - Cell Name: stromal cell of ovary (CL0002132)
Fold Change: -0.1420
Cell Significance Index: -19.5000 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.1496
Cell Significance Index: -17.1400 - Cell Name: bladder urothelial cell (CL1001428)
Fold Change: -0.1521
Cell Significance Index: -7.9000 - Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
Fold Change: -0.1903
Cell Significance Index: -4.6100 - Cell Name: stratified epithelial cell (CL0000079)
Fold Change: -0.1989
Cell Significance Index: -7.3000 - Cell Name: endothelial cell of venule (CL1000414)
Fold Change: -0.2297
Cell Significance Index: -2.6100 - Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -0.2435
Cell Significance Index: -14.9300 - Cell Name: basal cell (CL0000646)
Fold Change: -0.2630
Cell Significance Index: -3.1300 - Cell Name: forebrain neuroblast (CL1000042)
Fold Change: -0.2806
Cell Significance Index: -17.2500 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: -0.2994
Cell Significance Index: -13.9600 - Cell Name: hippocampal granule cell (CL0001033)
Fold Change: -0.3023
Cell Significance Index: -20.3300 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: -0.3053
Cell Significance Index: -13.8400 - Cell Name: respiratory goblet cell (CL0002370)
Fold Change: -0.4234
Cell Significance Index: -4.3700 - Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: -0.4281
Cell Significance Index: -11.0100 - Cell Name: taste receptor cell (CL0000209)
Fold Change: -0.4422
Cell Significance Index: -5.1400 - Cell Name: CD14-positive monocyte (CL0001054)
Fold Change: -0.4509
Cell Significance Index: -8.8200 - Cell Name: respiratory basal cell (CL0002633)
Fold Change: -0.4526
Cell Significance Index: -4.4700 - Cell Name: kidney epithelial cell (CL0002518)
Fold Change: -0.4678
Cell Significance Index: -13.7800 - Cell Name: luminal epithelial cell of mammary gland (CL0002326)
Fold Change: -0.5009
Cell Significance Index: -6.4500 - Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
Fold Change: -0.5077
Cell Significance Index: -12.6600 - Cell Name: pro-T cell (CL0000827)
Fold Change: -0.5237
Cell Significance Index: -13.3800 - Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: -0.5240
Cell Significance Index: -14.0400 - Cell Name: progenitor cell (CL0011026)
Fold Change: -0.5262
Cell Significance Index: -5.5900 - Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: -0.5428
Cell Significance Index: -19.0200 - Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: -0.5695
Cell Significance Index: -25.1900 - Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: -0.5787
Cell Significance Index: -15.4800 - Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -0.5861
Cell Significance Index: -19.1900 - Cell Name: squamous epithelial cell (CL0000076)
Fold Change: -0.5952
Cell Significance Index: -7.2400 - Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -0.6016
Cell Significance Index: -19.1600 - Cell Name: vascular lymphangioblast (CL0005022)
Fold Change: -0.6032
Cell Significance Index: -10.6600 - Cell Name: granulosa cell (CL0000501)
Fold Change: -0.6070
Cell Significance Index: -15.9600 - Cell Name: erythrocyte (CL0000232)
Fold Change: -0.6131
Cell Significance Index: -15.6200 - Cell Name: placental villous trophoblast (CL2000060)
Fold Change: -0.6198
Cell Significance Index: -16.5500 - Cell Name: Purkinje cell (CL0000121)
Fold Change: -0.6563
Cell Significance Index: -14.3700 - Cell Name: lens fiber cell (CL0011004)
Fold Change: -0.6583
Cell Significance Index: -20.8200 - Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: -0.6647
Cell Significance Index: -25.1700 - Cell Name: fibroblast of dermis (CL0002551)
Fold Change: -0.6722
Cell Significance Index: -14.0700 - Cell Name: megakaryocyte (CL0000556)
Fold Change: -0.6724
Cell Significance Index: -10.8900 - Cell Name: medullary thymic epithelial cell (CL0002365)
Fold Change: -0.6838
Cell Significance Index: -7.4800 - Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
Fold Change: -0.6850
Cell Significance Index: -12.6600 - Cell Name: epithelial cell (CL0000066)
Fold Change: -0.6859
Cell Significance Index: -7.2400 - Cell Name: monocyte-derived dendritic cell (CL0011031)
Fold Change: -0.6999
Cell Significance Index: -12.0300 - Cell Name: cerebral cortex endothelial cell (CL1001602)
Fold Change: -0.7018
Cell Significance Index: -14.2800 - Cell Name: hippocampal pyramidal neuron (CL1001571)
Fold Change: -0.7121
Cell Significance Index: -20.3200 - Cell Name: fallopian tube secretory epithelial cell (CL4030006)
Fold Change: -0.7436
Cell Significance Index: -11.5100 - Cell Name: thymocyte (CL0000893)
Fold Change: -0.7629
Cell Significance Index: -9.6400 - Cell Name: cortical interneuron (CL0008031)
Fold Change: -0.7822
Cell Significance Index: -18.7600 - Cell Name: hematopoietic stem cell (CL0000037)
Fold Change: -0.7892
Cell Significance Index: -13.4900 - Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: -0.7930
Cell Significance Index: -19.7800 - Cell Name: mesenchymal cell (CL0008019)
Fold Change: -0.8016
Cell Significance Index: -13.4200
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.
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.
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
Genular Protein ID: 2182437991
Symbol: K2C5_HUMAN
Name: Keratin, type II cytoskeletal 5
UniProtKB Accession Codes:
Database IDs:
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
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
PubMed ID: 10903910
Title: Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5.
PubMed ID: 10903910
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
PubMed ID: 14723728
Title: A new keratin 5 mutation (K199T) in a family with Weber-Cockayne epidermolysis bullosa simplex.
PubMed ID: 14723728
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
PubMed ID: 10852826
Title: Interaction of plakophilins with desmoplakin and intermediate filament proteins: an in vitro analysis.
PubMed ID: 10852826
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
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
PubMed ID: 25944712
Title: N-terminome analysis of the human mitochondrial proteome.
PubMed ID: 25944712
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
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
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
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
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
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
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
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
PubMed ID: 8799157
Title: The genetic basis of epidermolysis bullosa simplex with mottled pigmentation.
PubMed ID: 8799157
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
PubMed ID: 9406827
Title: A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara.
PubMed ID: 9406827
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
PubMed ID: 9804357
Title: Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex.
PubMed ID: 9804357
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
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
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
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
PubMed ID: 12707098
Title: Epidermolysis bullosa simplex in Israel: clinical and genetic features.
PubMed ID: 12707098
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
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
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
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
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
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
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
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
PubMed ID: 21375516
Title: Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.
PubMed ID: 21375516
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
PubMed ID: 21569119
Title: A novel heterozygous nonsense mutation of keratin 5 in a Chinese family with Dowling-Degos disease.
PubMed ID: 21569119
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
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
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
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.