Property Summary

NCBI Gene PubMed Count 48
Grant Count 8
R01 Count 3
Funding $2,802,480.5
PubMed Score 211.89
PubTator Score 132.20

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
psoriasis 2.000 0.007
spina bifida -1.087 0.014

Gene RIF (22)

PMID Text
24899405 Mutational analysis revealed a T to G transition in the coding DNA sequence, designated as c.470T>G (p.Met157Arg), a missense mutation in exon 1 of KRT9 in the proband and her brother, but not in unrelated healthy controls.
24862219 KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratoderma.
24510562 A heterozygous missense mutation c.482A to G in the KRT9 gene.
23397986 We identified a novel Eidermolytic Palmoplantar Keratoderma-causing mutation located in a region of the KRT9 gene, encoding a poorly conserved region of the protein that is not routinely screened for diagnostic purposes.
23278372 Our findings indicate that knuckle pads can be associated with epidermolytic palmoplantar keratoderma and the R163W mutation in a family with a genetic background different from that described here.
23265708 Data indicate that the node tumour burden could be accurately quantified based on the cytokeratin 19 (CK19) mRNA copy number.
22678789 A heterozygous transversional mutation, 488G-->A, was identified in exon 1 of KRT9 gene in all patients.
22262370 A substitution in arginine alters the charge and shape of KRT9 rod domain, disrupting the function of the helix initiation motif of keratins and compromising the integrity of filaments and weakening their stability in the epidermis of palms and soles.
21715251 KRT9 may play a complicated role in the genesis of epidermolytic palmoplantar keratoderma with knuckle pads and camptodactyly.
21489919 Study provides evidence that epidermolytic palmoplantar keratoderma in a large Chinese family may result from a novel duplication mutation (c.495_503dupCTCTTACTT) in the 1A rod domain of KRT9.
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AA Sequence

MSCRQFSSSYLSRSGGGGGGGLGSGGSIRSSYSRFSSSGGGGGGGRFSSSSGYGGGSSRVCGRGGGGSFG      1 - 70
YSYGGGSGGGFSASSLGGGFGGGSRGFGGASGGGYSSSGGFGGGFGGGSGGGFGGGYGSGFGGFGGFGGG     71 - 140
AGGGDGGILTANEKSTMQELNSRLASYLDKVQALEEANNDLENKIQDWYDKKGPAAIQKNYSPYYNTIDD    141 - 210
LKDQIVDLTVGNNKTLLDIDNTRMTLDDFRIKFEMEQNLRQGVDADINGLRQVLDNLTMEKSDLEMQYET    211 - 280
LQEELMALKKNHKEEMSQLTGQNSGDVNVEINVAPGKDLTKTLNDMRQEYEQLIAKNRKDIENQYETQIT    281 - 350
QIEHEVSSSGQEVQSSAKEVTQLRHGVQELEIELQSQLSKKAALEKSLEDTKNRYCGQLQMIQEQISNLE    351 - 420
AQITDVRQEIECQNQEYSLLLSIKMRLEKEIETYHNLLEGGQEDFESSGAGKIGLGGRGGSGGSYGRGSR    421 - 490
GGSGGSYGGGGSGGGYGGGSGSRGGSGGSYGGGSGSGGGSGGGYGGGSGGGHSGGSGGGHSGGSGGNYGG    491 - 560
GSGSGGGSGGGYGGGSGSRGGSGGSHGGGSGFGGESGGSYGGGEEASGSGGGYGGGSGKSSHS           561 - 623
//

Text Mined References (66)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24899405 2014 A recurrent p.M157R mutation of keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma and literature review.
24862219 2014 KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratoderma.
24510562 2014 [Mutation analysis and prenatal diagnosis of keratin 9 gene in a large Chinese family with epidermolytic palmoplantar keratoderma].
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
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.
23397986 2013 Epidermolytic palmoplantar keratoderma caused by activation of a cryptic splice site in KRT9.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23278372 Analysis of the KRT9 gene in a Mexican family with epidermolytic palmoplantar keratoderma.
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