Property Summary

NCBI Gene PubMed Count 90
PubMed Score 255.52
PubTator Score 653.83

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Expression

  Differential Expression (3)

Disease log2 FC p
esophageal adenocarcinoma -2.700 2.0e-02
osteosarcoma -2.435 7.3e-03
periodontitis -1.200 7.1e-07

Gene RIF (29)

PMID Text
26343611 These findings indicate that exogenous FABP4 interacts with plasma membrane proteins, specifically CK1.
26181054 Complete structure of an epithelial keratin 1/keratin 10 dimer has been presented.
25808222 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
25774499 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.
25605727 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.
25429721 analysis of a heterozygous novel splice junction mutation in the 2B domain of KRT1 in a family with diffuse palmoplantar keratoderma
25073515 Decreased levels of cytokeratin-1 is associated with breast cancer.
25050384 Hsp74, a potential bladder cancer marker, has direct interaction with keratin 1.
23707440 identified among endothelial antigens to which antibodies are produced during heart transplant rejection
23623204 Case Report/Letter: specific mutation in 2B domain of KRT1 gives rise to mild phenotype of epidermolytic hyperkeratosis mimicking ichthyosis bullosa of Siemens.
23182068 Among Japanese patients with bullous congenital ichthyosiform erythroderma for which genetic diagnosis was determined, all showed mustations in KRT1 or KRT10.
23132931 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.
22834809 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)
22348822 Identification Keratin 1 as a cDDP-resistant protein in nasopharyngeal carcinoma cell lines.
22250628 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.
21912905 High cytokeratin is associated with colorectal carcinogenesis.
21271994 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
20500210 keratin 1 L12 domain mutations are associated with a milder epidermolytic ichthyosis phenotype with pronounced palmoplantar keratoderma, and without neonatal erythroderma and scaling.
19515043 Infection by HPV may alter the differentiation status of the epidermis, leading to delayed or absent expression of cytokeratin 1.
19494018 Keratin 1, an intermediate filament network component, is the binding partner of the lymphocytic choriomeningitis virus nucleoprotein.
19470048 Mutation L437P in the 2B domain of keratin 1 causes diffuse palmoplantar keratoderma in a Chinese pedigree.
18795921 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
18637039 RT-PCR and western blot analysis revealed a delay in the expression of the differentiation markers K1, K10 and involucrin in HaCaT cells compared with normal human keratinocytes
17668073 Data demonstrate that genetic variants in the KRT1 interval contribute to quantifiable differences in the migration rates of keratinocytes isolated from different individuals.
16789827 Allelic expression differences result from the cumulative contribution of multiple DNA sequence polymorphisms.
16417221 A new genetic polymorphism has been detected, which is especially prevalent among the African-American population.
16361731 bullous congenital ichthyosiform erythroderma (BCIE) caused by a mutation in the 1A helix initiation motif of keratin 1.
15797458 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.
12064938 alpha-keratin intermediate filaments have a low-density core as seen by cryoelectron microscopy

AA Sequence

MSRQFSSRSGYRSGGGFSSGSAGIINYQRRTTSSSTRRSGGGGGRFSSCGGGGGSFGAGGGFGSRSLVNL      1 - 70
GGSKSISISVARGGGRGSGFGGGYGGGGFGGGGFGGGGFGGGGIGGGGFGGFGSGGGGFGGGGFGGGGYG     71 - 140
GGYGPVCPPGGIQEVTINQSLLQPLNVEIDPEIQKVKSREREQIKSLNNQFASFIDKVRFLEQQNQVLQT    141 - 210
KWELLQQVDTSTRTHNLEPYFESFINNLRRRVDQLKSDQSRLDSELKNMQDMVEDYRNKYEDEINKRTNA    211 - 280
ENEFVTIKKDVDGAYMTKVDLQAKLDNLQQEIDFLTALYQAELSQMQTQISETNVILSMDNNRSLDLDSI    281 - 350
IAEVKAQYEDIAQKSKAEAESLYQSKYEELQITAGRHGDSVRNSKIEISELNRVIQRLRSEIDNVKKQIS    351 - 420
NLQQSISDAEQRGENALKDAKNKLNDLEDALQQAKEDLARLLRDYQELMNTKLALDLEIATYRTLLEGEE    421 - 490
SRMSGECAPNVSVSVSTSHTTISGGGSRGGGGGGYGSGGSSYGSGGGSYGSGGGGGGGRGSYGSGGSSYG    491 - 560
SGGGSYGSGGGGGGHGSYGSGSSSGGYRGGSGGGGGGSSGGRGSGGGSSGGSIGGRGSSSGGVKSSGGSS    561 - 630
SVKFVSTTYSGVTR                                                            631 - 644
//

Text Mined References (105)

PMID Year Title
26343611 2015 New insights into circulating FABP4: Interaction with cytokeratin 1 on endothelial cell membranes.
26181054 2015 Complete Structure of an Epithelial Keratin Dimer: Implications for Intermediate Filament Assembly.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25808222 2015 A KRT1 gene mutation related to epidermolytic ichthyosis in a Chinese family.
25774499 2015 Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti.
25605727 2015 Keratin 1 plays a critical role in golgi localization of core 2 N-acetylglucosaminyltransferase M via interaction with its cytoplasmic tail.
25429721 2015 Next-generation sequencing detection and characterization of a heterozygous novel splice junction mutation in the 2B domain of KRT1 in a family with diffuse palmoplantar keratoderma.
25073515 2014 Circulating levels and clinical implications of epithelial membrane antigen and cytokeratin-1 in women with breast cancer: can their ratio improve the results?
25050384 2014 Hsp74, a potential bladder cancer marker, has direct interaction with keratin 1.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23895828 2013 Incorrectly annotated keratin derived peptide sequences lead to misleading MS/MS data interpretation.
23707440 2013 Identification of endothelial cell surface antigens encoded by genes other than HLA. A combined immunoprecipitation and proteomic approach for the identification of antigens recognized by antibodies against endothelial cells in transplant recipients.
23658023 2013 Comparative proteomic analysis of supportive and unsupportive extracellular matrix substrates for human embryonic stem cell maintenance.
23623204 2013 Mild phenotype of epidermolytic hyperkeratosis mimicking ichthyosis bullosa of Siemens is related to specific mutation in 2B domain of KRT1.
23580065 2013 Shotgun proteomics reveals specific modulated protein patterns in tears of patients with primary open angle glaucoma naïve to therapy.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23182068 2013 Epidemiology and clinical characteristics of bullous congenital ichthyosiform erythroderma (keratinolytic ichthyosis) in Japan: results from a nationwide survey.
23132931 2012 Keratin 1 maintains skin integrity and participates in an inflammatory network in skin through interleukin-18.
22834809 2013 A severe familial phenotype of Ichthyosis Curth-Macklin caused by a novel mutation in the KRT1 gene.
22664934 2012 Comparison of tear protein levels in breast cancer patients and healthy controls using a de novo proteomic approach.
22516433 2012 Proteomic analysis of microvesicles from plasma of healthy donors reveals high individual variability.
22348822 2012 Identification Keratin 1 as a cDDP-resistant protein in nasopharyngeal carcinoma cell lines.
22250628 2012 A recurrent missense mutation of keratin 1 gene in a Chinese family with epidermolytic hyperkeratosis (severe palmoplantar hyperkeratosis, type 1).
21912905 2012 Increase of ?-SMA(+) and CK (+) cells as an early sign of epithelial-mesenchymal transition during colorectal carcinogenesis.
21630459 2011 Proteomic characterization of the human sperm nucleus.
21544310 2011 Interaction of high-molecular-weight kininogen with endothelial cell binding proteins suPAR, gC1qR and cytokeratin 1 determined by surface plasmon resonance (BiaCore).
21271994 2011 Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis.
21269460 2011 Initial characterization of the human central proteome.
20500210 2010 A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19946888 2010 Defining the membrane proteome of NK cells.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19515043 2009 Comparative analysis of the expression of cytokeratins (1, 10, 14, 16, 4), involucrin, filaggrin and e-cadherin in plane warts and epidermodysplasia verruciformis plane wart-type lesions.
19494018 2009 The nucleoprotein of lymphocytic choriomeningitis virus facilitates spread of persistent infection through stabilization of the keratin network.
19470048 2009 Mutation L437P in the 2B domain of keratin 1 causes diffuse palmoplantar keratoderma in a Chinese pedigree.
19412582 2010 Proteomics approach to identify unique xylem sap proteins in Pierce's disease-tolerant Vitis species.
19199708 2009 Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT).
18795921 2009 Novel and recurrent mutations in the 1B domain of keratin 1 in palmoplantar keratoderma with tonotubules.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18637039 2009 Effects of extracellular calcium on the growth-differentiation switch in immortalized keratinocyte HaCaT cells compared with normal human keratinocytes.
18602030 2008 A proteomics approach to identify proteins differentially expressed in Douglas-fir seedlings infected by Phellinus sulphurascens.
17956333 2007 Interaction of integrin beta1 with cytokeratin 1 in neuroblastoma NMB7 cells.
17668073 2007 In vitro human keratinocyte migration rates are associated with SNPs in the KRT1 interval.
17373842 2007 HDM2-binding partners: interaction with translation elongation factor EF1alpha.
16923132 2006 Interactions between epiplakin and intermediate filaments.
16831889 2006 New consensus nomenclature for mammalian keratins.
16789827 2006 Allele-specific KRT1 expression is a complex trait.
16565220 2006 Phosphoproteome analysis of the human mitotic spindle.
16541075 2006 The finished DNA sequence of human chromosome 12.
16529377 2006 Proteomic comparison of needles from blister rust-resistant and susceptible Pinus strobus seedlings reveals upregulation of putative disease resistance proteins.
16417221 2006 A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type.
16361731 2005 A case of bullous congenital ichthyosiform erythroderma (BCIE) caused by a mutation in the 1A helix initiation motif of keratin 1.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15797458 2005 Keratins of the human hair follicle.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15324660 2004 Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12665801 2003 Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.
12648226 2003 Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5.
12603866 2003 In vivo studies of mutant keratin 1 in ichthyosis hystrix Curth-Macklin.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12406348 2002 Two novel mutations in the keratin 1 gene in epidermolytic hyperkeratosis.
12406346 2002 Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1.
12064938 Cryo-electron microscopy of trichocyte (hard alpha-keratin) intermediate filaments reveals a low-density core.
11982762 2002 Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma.
11897493 2002 PKC epsilon is associated with myosin IIA and actin in fibroblasts.
11841545 2002 Sequential reorganization of cornified cell keratin filaments involving filaggrin-mediated compaction and keratin 1 deimination.
11591653 2001 Protein-protein interaction panel using mouse full-length cDNAs.
11549596 2001 Endothelial oxidative stress activates the lectin complement pathway: role of cytokeratin 1.
11531804 2001 New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.
11487543 2001 Intestinal epithelial cells secrete exosome-like vesicles.
11290596 2001 Expression and colocalization of cytokeratin 1 and urokinase plasminogen activator receptor on endothelial cells.
11286630 2001 Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds.
11286616 2001 Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix.
11204562 2001 Factor XII-dependent contact activation on endothelial cells and binding proteins gC1qR and cytokeratin 1.
10942575 2000 Association between the calcium-binding protein calretinin and cytoskeletal components in the human colon adenocarcinoma cell line WiDr.
10903910 2000 Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5.
10844506 2000 Epidermolytic hyperkeratosis in a Hispanic family resulting from a mutation in the keratin 1 gene.
10688370 2000 Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis.
10597140 1999 Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene.
10232403 1999 An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis.
10066772 1999 Mapping binding domains of kininogens on endothelial cell cytokeratin 1.
10053007 1999 Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1.
9856846 1998 An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1.
9520414 1998 Identification of cytokeratin 1 as a binding protein and presentation receptor for kininogens on endothelial cells.
9261168 1997 Two-hybrid analysis reveals fundamental differences in direct interactions between desmoplakin and cell type-specific intermediate filaments.
8999895 1997 Direct evidence that involucrin is a major early isopeptide cross-linked component of the keratinocyte cornified cell envelope.
8780679 1996 Preferential deimination of keratin K1 and filaggrin during the terminal differentiation of human epidermis.
7687781 1993 Vitamin A regulates proliferation and differentiation of human prostatic epithelial cells.
7536183 1994 Organization of the human keratin type II gene cluster at 12q13.
7528239 1994 A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma.
7512983 1994 Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity.
7507152 1994 Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).
7507151 1994 Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis.
2581964 1985 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.
2580302 1985 Structure of a gene for the human epidermal 67-kDa keratin.
2470667 1989 Two type II keratin genes are localized on human chromosome 12.
2461420 1988 Chromosomal mapping of human keratin genes: evidence of non-linkage.
2450142 1988 Role of transforming growth factor beta in the maturation of human epidermal keratinocytes.
1602151 1992 Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin.
1381288 1992 A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis.
1380725 1992 Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis.
1284546 1992 Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q.
1281859 1992 The two size alleles of human keratin 1 are due to a deletion in the glycine-rich carboxyl-terminal V2 subdomain.