Details for: KRT1

Gene ID: 3848

Symbol: KRT1

Ensembl ID: ENSG00000167768

Description: keratin 1

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: epidermal cell (CL0000362)
    Fold Change: 29.7873
    Cell Significance Index: 67.1500
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 28.0614
    Cell Significance Index: 83.4600
  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 24.0445
    Cell Significance Index: -3.7400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 20.7378
    Cell Significance Index: -5.2600
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 8.4830
    Cell Significance Index: 56.3100
  • Cell Name: inflammatory cell (CL0009002)
    Fold Change: 4.1648
    Cell Significance Index: 23.8800
  • Cell Name: reticular cell (CL0000432)
    Fold Change: 3.4940
    Cell Significance Index: 22.2600
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: 2.8221
    Cell Significance Index: 24.2500
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 2.3949
    Cell Significance Index: 5.5300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.7256
    Cell Significance Index: 197.7000
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 1.2780
    Cell Significance Index: 19.4100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 1.1396
    Cell Significance Index: -2.4900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.7624
    Cell Significance Index: 337.0900
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.6442
    Cell Significance Index: 10.8400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.5723
    Cell Significance Index: 97.7200
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.5171
    Cell Significance Index: 8.0000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.5085
    Cell Significance Index: 376.6400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.4058
    Cell Significance Index: 85.4800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.3138
    Cell Significance Index: 176.9500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0656
    Cell Significance Index: 40.9800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0437
    Cell Significance Index: 3.0900
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.0350
    Cell Significance Index: 0.8800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0066
    Cell Significance Index: -4.9700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0107
    Cell Significance Index: -0.5400
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0119
    Cell Significance Index: -1.3600
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0150
    Cell Significance Index: -0.6100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0193
    Cell Significance Index: -5.5500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0217
    Cell Significance Index: -9.8500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0244
    Cell Significance Index: -3.5400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0260
    Cell Significance Index: -5.1500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0274
    Cell Significance Index: -3.3700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0310
    Cell Significance Index: -6.2100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0376
    Cell Significance Index: -3.8400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0438
    Cell Significance Index: -1.2200
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0458
    Cell Significance Index: -0.5200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0561
    Cell Significance Index: -7.7100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0716
    Cell Significance Index: -8.4400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0726
    Cell Significance Index: -1.5200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0758
    Cell Significance Index: -5.1000
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0774
    Cell Significance Index: -1.5100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0783
    Cell Significance Index: -5.0500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0802
    Cell Significance Index: -4.9200
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: -0.0855
    Cell Significance Index: -1.0400
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0907
    Cell Significance Index: -3.3300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0982
    Cell Significance Index: -2.6300
  • Cell Name: urothelial cell (CL0000731)
    Fold Change: -0.1032
    Cell Significance Index: -0.7200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1135
    Cell Significance Index: -8.4600
  • Cell Name: adipocyte (CL0000136)
    Fold Change: -0.1178
    Cell Significance Index: -1.5700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1214
    Cell Significance Index: -7.4600
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: -0.1221
    Cell Significance Index: -1.7800
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.1249
    Cell Significance Index: -1.7900
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.1264
    Cell Significance Index: -1.7700
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1307
    Cell Significance Index: -3.8500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1321
    Cell Significance Index: -6.1600
  • Cell Name: monocyte-derived dendritic cell (CL0011031)
    Fold Change: -0.1339
    Cell Significance Index: -2.3000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1340
    Cell Significance Index: -3.5900
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.1371
    Cell Significance Index: -1.4900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1372
    Cell Significance Index: -4.4000
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.1418
    Cell Significance Index: -4.1700
  • Cell Name: myoblast (CL0000056)
    Fold Change: -0.1547
    Cell Significance Index: -1.5200
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: -0.1592
    Cell Significance Index: -1.5400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1747
    Cell Significance Index: -5.7200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1794
    Cell Significance Index: -5.1200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1818
    Cell Significance Index: -5.7900
  • Cell Name: peridermal cell (CL0000078)
    Fold Change: -0.1860
    Cell Significance Index: -1.1600
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.1862
    Cell Significance Index: -3.2100
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.1864
    Cell Significance Index: -4.7500
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1871
    Cell Significance Index: -4.9200
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.1907
    Cell Significance Index: -4.6200
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: -0.1908
    Cell Significance Index: -2.2600
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1985
    Cell Significance Index: -5.0700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.2064
    Cell Significance Index: -5.5100
  • Cell Name: erythroblast (CL0000765)
    Fold Change: -0.2239
    Cell Significance Index: -2.6700
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.2249
    Cell Significance Index: -3.2000
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: -0.2284
    Cell Significance Index: -3.3400
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.2302
    Cell Significance Index: -5.0400
  • Cell Name: muscle fibroblast (CL1001609)
    Fold Change: -0.2383
    Cell Significance Index: -1.4600
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.2419
    Cell Significance Index: -4.7300
  • Cell Name: monocyte (CL0000576)
    Fold Change: -0.2468
    Cell Significance Index: -2.8400
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: -0.2523
    Cell Significance Index: -1.5800
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: -0.2535
    Cell Significance Index: -2.8700
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.2559
    Cell Significance Index: -4.7300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2560
    Cell Significance Index: -12.0300
  • Cell Name: chondroblast (CL0000058)
    Fold Change: -0.2589
    Cell Significance Index: -1.5200
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.2638
    Cell Significance Index: -6.5800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2647
    Cell Significance Index: -4.4300
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.2674
    Cell Significance Index: -5.5800
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.2688
    Cell Significance Index: -5.3600
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: -0.2707
    Cell Significance Index: -3.4300
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2780
    Cell Significance Index: -5.9000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.2780
    Cell Significance Index: -8.0100
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.2797
    Cell Significance Index: -5.5300
  • Cell Name: articular chondrocyte (CL1001607)
    Fold Change: -0.2804
    Cell Significance Index: -1.5200
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: -0.2845
    Cell Significance Index: -3.1800
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: -0.2849
    Cell Significance Index: -4.6200
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: -0.2864
    Cell Significance Index: -4.9000
  • Cell Name: mast cell (CL0000097)
    Fold Change: -0.2933
    Cell Significance Index: -3.8600
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: -0.2939
    Cell Significance Index: -3.5300
  • Cell Name: leukocyte (CL0000738)
    Fold Change: -0.2950
    Cell Significance Index: -5.0100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2962
    Cell Significance Index: -8.4900

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:** KRT1 belongs to the keratin family, which consists of a diverse array of proteins that provide structural support and mechanical stability to cells, particularly in epithelial tissues. KRT1 is a type I keratin, which is characterized by its ability to form dimers and higher-order structures, contributing to the formation of intermediate filaments. These filaments are essential for maintaining cell shape, resisting mechanical stress, and providing a scaffold for various cellular activities. **Pathways and Functions:** KRT1 is involved in multiple cellular pathways, including: 1. **Innate Immune Response:** KRT1 plays a crucial role in regulating the innate immune response, particularly in the context of inflammation and oxidative stress. It interacts with various immune molecules, such as complement components and lectins, to modulate the inflammatory response. 2. **Epithelial Barrier Function:** KRT1 is essential for maintaining the integrity of the skin and other epithelial tissues, providing a barrier against external pathogens and toxins. 3. **Angiogenesis:** KRT1 has been implicated in the regulation of angiogenesis, a process critical for tissue repair and development. 4. **Cell Signaling:** KRT1 interacts with various signaling molecules, including growth factors and transcription factors, to regulate cellular proliferation, differentiation, and survival. **Significantly Expressed Cells:** KRT1 is expressed in a wide range of cells, including: 1. **Oligodendrocyte Precursor Cells:** KRT1 is expressed in oligodendrocyte precursor cells, suggesting its role in the development and maintenance of the central nervous system. 2. **Microglial Cells:** KRT1 is also expressed in microglial cells, highlighting its involvement in the innate immune response in the central nervous system. 3. **Conventional Dendritic Cells:** KRT1 is expressed in conventional dendritic cells, indicating its role in the regulation of immune responses. 4. **Stem Cells of Epidermis:** KRT1 is expressed in stem cells of the epidermis, suggesting its importance in the maintenance of epithelial homeostasis. **Clinical Significance:** Dysregulation of KRT1 has been implicated in various epithelial disorders, including: 1. **Psoriasis:** Abnormal expression of KRT1 has been observed in psoriatic skin, suggesting its role in the pathogenesis of the disease. 2. **Cancer:** Alterations in KRT1 expression have been associated with various types of cancer, including breast, lung, and skin cancers. 3. **Neurological Disorders:** Dysregulation of KRT1 has been implicated in various neurological disorders, including multiple sclerosis and Alzheimer's disease. In conclusion, KRT1 is a multifunctional protein that plays a critical role in maintaining epithelial integrity, regulating immune responses, and modulating cellular processes. Its dysregulation has been implicated in various epithelial disorders, highlighting the importance of KRT1 in human health and disease. Further research is needed to fully elucidate the role of KRT1 in immune response and epithelial disorders.

Genular Protein ID: 404953078

Symbol: K2C1_HUMAN

Name: Keratin, type II cytoskeletal 1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 2580302

Title: Structure of a gene for the human epidermal 67-kDa keratin.

PubMed ID: 2580302

DOI: 10.1073/pnas.82.7.1896

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: 11286630

Title: Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds.

PubMed ID: 11286630

DOI: 10.1046/j.1523-1747.2001.13041234.x

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

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: 12665801

Title: Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.

PubMed ID: 12665801

DOI: 10.1038/nbt810

PubMed ID: 2581964

Title: Amino acid sequences of mouse and human epidermal type II keratins of Mr 67,000 provide a systematic basis for the structural and functional diversity of the end domains of keratin intermediate filament subunits.

PubMed ID: 2581964

DOI: 10.1016/s0021-9258(18)88900-1

PubMed ID: 8780679

Title: Preferential deimination of keratin K1 and filaggrin during the terminal differentiation of human epidermis.

PubMed ID: 8780679

DOI: 10.1006/bbrc.1996.1240

PubMed ID: 11286616

Title: Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix.

PubMed ID: 11286616

DOI: 10.1046/j.1523-1747.2001.01292.x

PubMed ID: 11841545

Title: Sequential reorganization of cornified cell keratin filaments involving filaggrin-mediated compaction and keratin 1 deimination.

PubMed ID: 11841545

DOI: 10.1046/j.0022-202x.2001.01671.x

PubMed ID: 11982762

Title: Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma.

PubMed ID: 11982762

DOI: 10.1046/j.1523-1747.2002.01750.x

PubMed ID: 14654843

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

PubMed ID: 14654843

DOI: 10.1038/nature02166

PubMed ID: 16923132

Title: Interactions between epiplakin and intermediate filaments.

PubMed ID: 16923132

DOI: 10.1111/j.1346-8138.2006.00127.x

PubMed ID: 16529377

Title: Proteomic comparison of needles from blister rust-resistant and susceptible Pinus strobus seedlings reveals upregulation of putative disease resistance proteins.

PubMed ID: 16529377

DOI: 10.1094/mpmi-19-0150

PubMed ID: 17956333

Title: Interaction of integrin beta1 with cytokeratin 1 in neuroblastoma NMB7 cells.

PubMed ID: 17956333

DOI: 10.1042/bst0351292

PubMed ID: 18602030

Title: A proteomics approach to identify proteins differentially expressed in Douglas-fir seedlings infected by Phellinus sulphurascens.

PubMed ID: 18602030

DOI: 10.1016/j.jprot.2008.06.004

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: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 19412582

Title: Proteomics approach to identify unique xylem sap proteins in Pierce's disease-tolerant Vitis species.

PubMed ID: 19412582

DOI: 10.1007/s12010-009-8620-1

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21544310

Title: Interaction of high-molecular-weight kininogen with endothelial cell binding proteins suPAR, gC1qR and cytokeratin 1 determined by surface plasmon resonance (BiaCore).

PubMed ID: 21544310

DOI: 10.1160/th10-09-0591

PubMed ID: 23895828

Title: Incorrectly annotated keratin derived peptide sequences lead to misleading MS/MS data interpretation.

PubMed ID: 23895828

DOI: 10.1016/j.jprot.2013.07.009

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: 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: 27595935

Title: The X-Ray Crystal Structure of the Keratin1-Keratin 10 Helix 2B Heterodimer Reveals Molecular Surface Properties and Biochemical Insights into Human Skin Disease.

PubMed ID: 27595935

DOI: 10.1016/j.jid.2016.08.018

PubMed ID: 1381288

Title: A leucine-->proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis.

PubMed ID: 1381288

DOI: 10.1016/0092-8674(92)90315-4

PubMed ID: 1281859

Title: The two size alleles of human keratin 1 are due to a deletion in the glycine-rich carboxyl-terminal V2 subdomain.

PubMed ID: 1281859

DOI: 10.1111/1523-1747.ep12614149

PubMed ID: 1380725

Title: Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis.

PubMed ID: 1380725

DOI: 10.1126/science.257.5073.1128

PubMed ID: 7512983

Title: Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity.

PubMed ID: 7512983

DOI: 10.1172/jci117132

PubMed ID: 7507151

Title: Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis.

PubMed ID: 7507151

DOI: 10.1111/1523-1747.ep12371725

PubMed ID: 7507152

Title: Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).

PubMed ID: 7507152

DOI: 10.1111/1523-1747.ep12371726

PubMed ID: 7528239

Title: A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma.

PubMed ID: 7528239

DOI: 10.1111/1523-1747.ep12412771

PubMed ID: 9856846

Title: An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1.

PubMed ID: 9856846

DOI: 10.1046/j.1523-1747.1998.00389.x

PubMed ID: 10053007

Title: Cyclic ichthyosis with epidermolytic hyperkeratosis: a phenotype conferred by mutations in the 2B domain of keratin K1.

PubMed ID: 10053007

DOI: 10.1086/302278

PubMed ID: 10232403

Title: An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis.

PubMed ID: 10232403

DOI: 10.1111/j.1600-0625.1999.tb00359.x

PubMed ID: 10597140

Title: Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene.

PubMed ID: 10597140

DOI: 10.1111/j.1600-0625.1999.tb00309.x

PubMed ID: 10844506

Title: Epidermolytic hyperkeratosis in a Hispanic family resulting from a mutation in the keratin 1 gene.

PubMed ID: 10844506

DOI: 10.1046/j.1365-2230.2000.00625.x

PubMed ID: 10688370

Title: Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis.

PubMed ID: 10688370

DOI: 10.1034/j.1600-0625.2000.009001016.x

PubMed ID: 11531804

Title: New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.

PubMed ID: 11531804

DOI: 10.1046/j.1365-2133.2001.04327.x

PubMed ID: 12406346

Title: Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1.

PubMed ID: 12406346

DOI: 10.1046/j.1523-1747.2002.00186.x

PubMed ID: 12406348

Title: Two novel mutations in the keratin 1 gene in epidermolytic hyperkeratosis.

PubMed ID: 12406348

DOI: 10.1046/j.1523-1747.2002.00061.x

PubMed ID: 21271994

Title: Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis.

PubMed ID: 21271994

DOI: 10.1111/j.1365-2133.2010.10096.x

PubMed ID: 37122192

Title: A Japanese case of Voerner-type palmoplantar keratoderma caused by a novel KRT1 variant.

PubMed ID: 37122192

DOI: 10.1111/1346-8138.16815

Sequence Information:

  • Length: 644
  • Mass: 66039
  • Checksum: CE5DDE97388F5017
  • Sequence:
  • MSRQFSSRSG YRSGGGFSSG SAGIINYQRR TTSSSTRRSG GGGGRFSSCG GGGGSFGAGG 
    GFGSRSLVNL GGSKSISISV ARGGGRGSGF GGGYGGGGFG GGGFGGGGFG GGGIGGGGFG 
    GFGSGGGGFG GGGFGGGGYG GGYGPVCPPG GIQEVTINQS LLQPLNVEID PEIQKVKSRE 
    REQIKSLNNQ FASFIDKVRF LEQQNQVLQT KWELLQQVDT STRTHNLEPY FESFINNLRR 
    RVDQLKSDQS RLDSELKNMQ DMVEDYRNKY EDEINKRTNA ENEFVTIKKD VDGAYMTKVD 
    LQAKLDNLQQ EIDFLTALYQ AELSQMQTQI SETNVILSMD NNRSLDLDSI IAEVKAQYED 
    IAQKSKAEAE SLYQSKYEEL QITAGRHGDS VRNSKIEISE LNRVIQRLRS EIDNVKKQIS 
    NLQQSISDAE QRGENALKDA KNKLNDLEDA LQQAKEDLAR LLRDYQELMN TKLALDLEIA 
    TYRTLLEGEE SRMSGECAPN VSVSVSTSHT TISGGGSRGG GGGGYGSGGS SYGSGGGSYG 
    SGGGGGGGRG SYGSGGSSYG SGGGSYGSGG GGGGHGSYGS GSSSGGYRGG SGGGGGGSSG 
    GRGSGGGSSG GSIGGRGSSS GGVKSSGGSS SVKFVSTTYS GVTR

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.