Recombinant Human Keratin, type II cytoskeletal 1 (KRT1)

1. The authors report a large Italian family affected Palmoplantar Keratoderma and Charcot Marie Tooth disease. Two different mutated genes, KRT1 and MPZ were responsible for the two main clinical signs. Exome analysis detected two missense mutations, one in KRT1 and one in MPZ. PMID: 27639257
2. Results show that missense mutations exert dominant negative effects on the keratins K1/K10 protein structure by altering inter-chain interactions. PMID: 27421141
3. KRT1 and the specific polymorphism of KRT1 in this Chinese Han population are associated with autoimmune diseases SLE and SSc PMID: 29028840
4. Case Report: post-zygotic mosaicism of KRT/1o mutations in epidermolytic Ichthyosis. PMID: 27722766
5. KRT1 played an important role of maintaining epithelial barrier and its down-regulation in intestinal tissue was correlated with the progression of inflammatory bowel disease. PMID: 28111259
6. Report genetic/clinical spectrum of KRT1 mutations in keratinopathic ichthyosis. PMID: 26581228
7. demonstrated the presence of a genetic cutaneous mosaicism. Both patients carry the KRT1 pI479T substitution, but in the palmoplantar areas of one of them, only the mutated allele is expressed (hemizygous). This leads to highlight a new type of cutaneous mosaic, the palmoplantar mosaicism PMID: 25904304
8. In our study, the missense mutation in the proband and his mother with epidermolytic ichthyosis was a single amino acid difference in codon 478, which causes more serious skin manifestations PMID: 25808222
9. Complete structure of an epithelial keratin 1/keratin 10 dimer has been presented. PMID: 26181054
10. These findings indicate that exogenous FABP4 interacts with plasma membrane proteins, specifically CK1. PMID: 26343611
11. analysis of a heterozygous novel splice junction mutation in the 2B domain of KRT1 in a family with diffuse palmoplantar keratoderma PMID: 25429721
12. In ichthyosis with confetti, a causal de novo KRT1 mutation had a C-terminal frameshift, replacing 22 C-terminal AAs with an alternate 30-AA peptide. It distorted the IF network and mislocalized to the nucleus. Reversion occurred by mitotic recombination. PMID: 25774499
13. In HeLa cells transiently expressing C2GnT-M-GFP, knockdown of KRT1 does not affect Golgi morphology but leaves C2GnT-M outside of the Golgi, resulting in the formation of sialyl-T antigen. PMID: 25605727
14. Decreased levels of cytokeratin-1 is associated with breast cancer. PMID: 25073515
15. Hsp74, a potential bladder cancer marker, has direct interaction with keratin 1. PMID: 25050384
16. identified among endothelial antigens to which antibodies are produced during heart transplant rejection PMID: 23707440
17. Case Report/Letter: specific mutation in 2B domain of KRT1 gives rise to mild phenotype of epidermolytic hyperkeratosis mimicking ichthyosis bullosa of Siemens. PMID: 23623204
18. study reports 2 related women of Colombian origin, affected by a severe ichthyosis curth-macklin phenotype, who present a novel KRT1 mutation c.1577delG (p.Gly526Alafs*88) PMID: 22834809
19. Absence of Krt1 caused a prenatal increase in interleukin-18 (IL-18) and the S100A8 and S100A9 proteins, accompanied by a barrier defect and perinatal lethality. PMID: 23132931
20. Among Japanese patients with bullous congenital ichthyosiform erythroderma for which genetic diagnosis was determined, all showed mustations in KRT1 or KRT10. PMID: 23182068
21. Identification Keratin 1 as a cDDP-resistant protein in nasopharyngeal carcinoma cell lines. PMID: 22348822
22. High cytokeratin is associated with colorectal carcinogenesis. PMID: 21912905
23. we describe one Chinese family affected with EHK, type PS-1 (severe palmoplantar hyperkeratosis, type 1) and report a recurrent missense mutation (c.1436T>C) in the 2B rod domain of KRT1 in this family. PMID: 22250628
24. mutation analysis in patients with epidermolytic ichthyosis by direct sequencing of KRT1 and KRT10 genes; identified 14 different mutations, of which four have not been published previously PMID: 21271994
25. keratin 1 L12 domain mutations are associated with a milder epidermolytic ichthyosis phenotype with pronounced palmoplantar keratoderma, and without neonatal erythroderma and scaling. PMID: 20500210
26. Data demonstrate that genetic variants in the KRT1 interval contribute to quantifiable differences in the migration rates of keratinocytes isolated from different individuals. PMID: 17668073
27. alpha-keratin intermediate filaments have a low-density core as seen by cryoelectron microscopy PMID: 12064938
28. The humans hair Keratin 1 genes are each clustered in the genome and clusters are part of the large typeI epithelial keratin gene domains on chromosomes. PMID: 15797458
29. bullous congenital ichthyosiform erythroderma (BCIE) caused by a mutation in the 1A helix initiation motif of keratin 1. PMID: 16361731
30. A new genetic polymorphism has been detected, which is especially prevalent among the African-American population. PMID: 16417221
31. Allelic expression differences result from the cumulative contribution of multiple DNA sequence polymorphisms. PMID: 16789827
32. The 2 keratin 1 mutations are associated with tonotubular keratin, i.e. 'whorls' of aggregated keratin that form tubules as seen in transverse or in longitudinal sections PMID: 18795921
33. Mutation L437P in the 2B domain of keratin 1 causes diffuse palmoplantar keratoderma in a Chinese pedigree. PMID: 19470048
34. Keratin 1, an intermediate filament network component, is the binding partner of the lymphocytic choriomeningitis virus nucleoprotein. PMID: 19494018
35. Infection by HPV may alter the differentiation status of the epidermis, leading to delayed or absent expression of cytokeratin 1. PMID: 19515043

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HGNC: 6412

OMIM: 113800

KEGG: hsa:3848

STRING: 9606.ENSP00000252244

UniGene: Hs.80828