Property Summary

NCBI Gene PubMed Count 46
Grant Count 147
R01 Count 89
Funding $14,982,085.85
PubMed Score 143.57
PubTator Score 206.01

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
esophageal adenocarcinoma -2.800 0.031
psoriasis 5.300 0.000
cutaneous lupus erythematosus 3.300 0.000
Atopic dermatitis 3.800 0.000
non-small cell lung cancer 3.976 0.000
pancreatic cancer 1.400 0.002
adult high grade glioma -1.100 0.006
Breast cancer -1.200 0.002

Synonym

Accession P08779 A8K488 P30654 Q16402 Q9UBG8
Symbols K16
PC1
CK16
K1CP
NEPPK
FNEPPK
KRT16A

Gene

Gene RIF (20)

PMID Text
24357266 The wider spectrum of KRT16 mutations suggests that changes in codons 125, 127, and 132 are most commonly responsible for PC-1 and that proline substitution mutations at codons 127 or 128 may produce more severe disease
24218583 Keratin 16 regulates innate immunity in response to epidermal barrier breach.
24118415 analysis of a new p.Leu421Pro (c.1262T>C) mutation in the highly conserved helix termination motif of K16 in a large Spanish family that may have a role in pachyonychia congenita
23549873 Data established a seven-gene (AR, ESR2, GATA3, GBX2, KRT16, MMP28 and WNT11) prognostic signature to define a subset of triple-negative breast cancer (TNBC).
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 found that the KRT16 mutation carriers developed plantar keratoderma at a similar age to KRT6A carriers wheras KRT6B and KRT17 carriers were significantly more likely to report later onset.
22098151 Phenotypic differences exist between KRT6A and KRT16 mutations support adoption of a new classification system.
21160496 Patients with p.Asn125Asp and p.Arg127Pro mutations in KRT16 exhibited more severe disease than patients carrying p.Asn125Ser and p.Arg127Cys mutations in terms of age of onset of symptoms, extent of nail involvement, and impact on daily quality of life.
20722389 Data suggest that an immune response to trichohyalin and K16 may have a role in the pathogenesis of the enigmatic disorder.
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.
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AA Sequence

MTTCSRQFTSSSSMKGSCGIGGGIGGGSSRISSVLAGGSCRAPSTYGGGLSVSSRFSSGGACGLGGGYGG      1 - 70
GFSSSSSFGSGFGGGYGGGLGAGFGGGLGAGFGGGFAGGDGLLVGSEKVTMQNLNDRLASYLDKVRALEE     71 - 140
ANADLEVKIRDWYQRQRPSEIKDYSPYFKTIEDLRNKIIAATIENAQPILQIDNARLAADDFRTKYEHEL    141 - 210
ALRQTVEADVNGLRRVLDELTLARTDLEMQIEGLKEELAYLRKNHEEEMLALRGQTGGDVNVEMDAAPGV    211 - 280
DLSRILNEMRDQYEQMAEKNRRDAETWFLSKTEELNKEVASNSELVQSSRSEVTELRRVLQGLEIELQSQ    281 - 350
LSMKASLENSLEETKGRYCMQLSQIQGLIGSVEEQLAQLRCEMEQQSQEYQILLDVKTRLEQEIATYRRL    351 - 420
LEGEDAHLSSQQASGQSYSSREVFTSSSSSSSRQTRPILKEQSSSSFSQGQSS                     421 - 473
//

Text Mined References (51)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24357266 2014 Mutation p.Leu128Pro in the 1A domain of K16 causes pachyonychia congenita with focal palmoplantar keratoderma in a Chinese family.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24218583 2013 Keratin 16 regulates innate immunity in response to epidermal barrier breach.
24118415 2013 A new KRT16 mutation associated with a phenotype of pachyonychia congenita.
23549873 2013 Identification of prognosis-relevant subgroups in patients with chemoresistant triple-negative breast cancer.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
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.
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