Property Summary

NCBI Gene PubMed Count 40
PubMed Score 78.64
PubTator Score 148.90

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
esophageal adenocarcinoma -4.900 2.3e-02
psoriasis 4.500 8.3e-278
cutaneous lupus erythematosus 2.400 2.8e-04
osteosarcoma 1.085 1.1e-05
Atopic dermatitis 2.000 1.1e-03
non-small cell lung cancer 5.849 2.4e-15
lung cancer -3.900 3.5e-02
pancreatic cancer 2.000 3.7e-03
nasopharyngeal carcinoma -1.900 2.1e-02
spina bifida -2.107 4.0e-02
ulcerative colitis 2.100 1.1e-02

Gene RIF (18)

PMID Text
24708461 we here describe a family with pachyonychia congenita K6a, manifesting atypical symptoms of impaired wound healing and cheilitis.
24326984 CK5/6, but not c-Met expression, seems to be important in lymphatic metastasis
23075894 Data show that calretinin and CK5/6 were positive in 100 and 64% of mesotheliomas, and 92 and 31% of reactive effusions, respectively, and desmin was negative in all malignant cases and positive in 85% of reactive effusions.
23006328 Keratin-derived antimicrobial peptides (KDAMPs) and their synthetic analogs exhibit antimicrobial activity against bacterial pathogens.
22668561 Genotype-phenotype correlations among PC patients with codon-125 mutation in KRT16 were established, while the phenotypes caused by the IVS8-2A>C mutation in KRT6A need further studies to confirm the rare feature of fissured tongue
22264670 We observed a higher likelihood of oral leukokeratosis in individuals harboring KRT6A mutations.
22098151 Phenotypic differences exist between KRT6A and KRT16 mutations support adoption of a new classification system.
21554383 This report is the first case of pachyonychia congenita with laryngeal obstruction in which the gene mutation has been established (a deletional mutation in keratin 6a).
20470930 Focal palmoplantar keratoderma is associated with mutations in keratin K6c in 3 families. 2 unrelated families have Asn172 del and the other has a deletion of AA 462-470. Review.
20403371 these data highlight the possibility of a physiological role for K6/K16 heterodimers in keratinocyte cell migration, in addition to the heterodimer's known functions in cell differentiation and mechanical resilience.
20140871 The mutation of 521T--> C in the K6A gene is the causing mutation in pachyonychia congenita type I.
19806570 Mutations Y465H and N171D of the KRT16A gene were detected in the sporadic pachyonychia congenita cases.
19720911 Studies show that the intrinsic molecular signature of five markers, ER, PR, HER-2, CK 5/6, and EGFR, demonstrated specificity of 100% and sensitivity of 75%, compared with classification by gene expression profiling.
19699613 Rapamycin selectively inhibits expression of an inducible keratin (K6a) in human keratinocytes and improves symptoms in pachyonychia congenita patients.
19416275 Three novel and four recurrent keratin 6A (KRT6A) mutations were found in Chinese patients with pachyonychia congenita type 1
18489596 PC-1 is due to mutations of the KRT16 gene or its expression partner KRT6A, wheres PC-2 is caused by mutations in the KRT17 or KRT6B genes.
17719747 Four new missense and five known mutations in K6a, one new deletion and three previously identified missense mutations in K16, plus one known mutation in K17 are reported in pachyonychia congenita.
17650314 CK5/6 and/or EGFR expressing tumor types have a persistently poorer prognosis over the longer term.

AA Sequence

MASTSTTIRSHSSSRRGFSANSARLPGVSRSGFSSVSVSRSRGSGGLGGACGGAGFGSRSLYGLGGSKRI      1 - 70
SIGGGSCAISGGYGSRAGGSYGFGGAGSGFGFGGGAGIGFGLGGGAGLAGGFGGPGFPVCPPGGIQEVTV     71 - 140
NQSLLTPLNLQIDPTIQRVRAEEREQIKTLNNKFASFIDKVRFLEQQNKVLETKWTLLQEQGTKTVRQNL    141 - 210
EPLFEQYINNLRRQLDSIVGERGRLDSELRGMQDLVEDFKNKYEDEINKRTAAENEFVTLKKDVDAAYMN    211 - 280
KVELQAKADTLTDEINFLRALYDAELSQMQTHISDTSVVLSMDNNRNLDLDSIIAEVKAQYEEIAQRSRA    281 - 350
EAESWYQTKYEELQVTAGRHGDDLRNTKQEIAEINRMIQRLRSEIDHVKKQCANLQAAIADAEQRGEMAL    351 - 420
KDAKNKLEGLEDALQKAKQDLARLLKEYQELMNVKLALDVEIATYRKLLEGEECRLNGEGVGQVNISVVQ    421 - 490
STVSSGYGGASGVGSGLGLGGGSSYSYGSGLGVGGGFSSSSGRAIGGGLSSVGGGSSTIKYTTTSSSSRK    491 - 560
SYKH                                                                      561 - 564
//

Text Mined References (47)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
24708461 2015 Impaired wound healing and cheilitis in a Pachyonychia congenita K6a family.
24326984 2014 Cytokeratin 5/6, c-Met expressions, and PTEN loss prognostic indicators in triple-negative breast cancer.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23662636 2013 Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratoderma.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23075894 2012 The diagnostic utility of D2-40, calretinin, CK5/6, desmin and MOC-31 in the differentiation of mesothelioma from adenocarcinoma in pleural effusion cytology.
23006328 2012 Cytokeratins mediate epithelial innate defense through their antimicrobial properties.
22668561 Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma.
22264670 2012 A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita.
22098151 2012 Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16.
22020285 2011 Image-based genome-wide siRNA screen identifies selective autophagy factors.
21630459 2011 Proteomic characterization of the human sperm nucleus.
21554383 Pachyonychia congenita with laryngeal obstruction.
21326300 2011 A large mutational study in pachyonychia congenita.
21269460 2011 Initial characterization of the human central proteome.
20470930 2010 [Keratin k6c mutations in focal palmoplantar keratoderma].
20403371 2010 Aberrant heterodimerization of keratin 16 with keratin 6A in HaCaT keratinocytes results in diminished cellular migration.
20140871 2010 [The 521 T--> C mutation in the keratin 6A gene in a pedigree with pachyonychia congenita type I].
19946888 2010 Defining the membrane proteome of NK cells.
19806570 2009 [Two mutations of the KRT6A gene in Chinese patients with pachyonychia congenita type I].
19720911 2009 Prediction of local recurrence, distant metastases, and death after breast-conserving therapy in early-stage invasive breast cancer using a five-biomarker panel.
19699613 2009 Rapamycin selectively inhibits expression of an inducible keratin (K6a) in human keratinocytes and improves symptoms in pachyonychia congenita patients.
19416275 2009 Novel and recurrent keratin 6A (KRT6A) mutations in Chinese patients with pachyonychia congenita type 1.
19199708 2009 Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT).
18489596 2008 Mutations of KRT6A are more frequent than those of KRT16 in pachyonychia congenita type 1: report of a novel and a recently reported mutation in two unrelated Chinese families.
17719747 2007 A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.
17650314 2007 Use of immunohistochemical markers can refine prognosis in triple negative breast cancer.
17309457 2007 A novel missense mutation L468Q of keratin 6a in pachyonychia congenita type 1.
16831889 2006 New consensus nomenclature for mammalian keratins.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16250206 2005 The genetic basis of pachyonychia congenita.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
15840119 2005 A severe case of pachyonychia congenita type I due to a novel proline mutation in keratin 6a.
15737194 2005 Characterization of new members of the human type II keratin gene family and a general evaluation of the keratin gene domain on chromosome 12q13.13.
15731013 2005 Identification of trichoplein, a novel keratin filament-binding protein.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15387942 2004 [A de nono I462S mutation in the KRT6A gene is associated with pachyonychia congenita type I].
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11886499 2001 Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.
10232400 1999 A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1.
9054461 1997 Phosphorylation of human keratin 8 in vivo at conserved head domain serine 23 and at epidermal growth factor-stimulated tail domain serine 431.
7545493 1995 Mutation of a type II keratin gene (K6a) in pachyonychia congenita.
7543104 1995 Cloning and characterization of multiple human genes and cDNAs encoding highly related type II keratin 6 isoforms.
7525601 1994 Making a connection: direct binding between keratin intermediate filaments and desmosomal proteins.
6191871 1983 The cDNA sequence of a Type II cytoskeletal keratin reveals constant and variable structural domains among keratins.
1713141 1991 Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12.