Property Summary

NCBI Gene PubMed Count 11
PubMed Score 161.59
PubTator Score 38.24

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
diabetes mellitus 1.100 0.002
psoriasis -1.200 0.000

Gene RIF (3)

PMID Text
25557232 Novel mutations causing monilethrix are reported in KRT81, KRT83, and KRT86.
15797458 The KRTHB3 expression uniformly occurred in the midcortex region.
15744029 A heterozygous missense mutation in hHb3 causing the substitution of a glutamic acid by a lysine at position 407 in the helix termination motif defines this particular residue as a trichocyte keratin mutational hotspot associated with monilethrix.

AA Sequence

MTCGFNSIGCGFRPGNFSCVSACGPRPSRCCITAAPYRGISCYRGLTGGFGSHSVCGGFRAGSCGRSFGY      1 - 70
RSGGVCGPSPPCITTVSVNESLLTPLNLEIDPNAQCVKQEEKEQIKSLNSRFAAFIDKVRFLEQQNKLLE     71 - 140
TKLQFYQNRECCQSNLEPLFAGYIETLRREAECVEADSGRLASELNHVQEVLEGYKKKYEEEVALRATAE    141 - 210
NEFVALKKDVDCAYLRKSDLEANVEALIQEIDFLRRLYEEEIRILQSHISDTSVVVKLDNSRDLNMDCIV    211 - 280
AEIKAQYDDIATRSRAEAESWYRSKCEEMKATVIRHGETLRRTKEEINELNRMIQRLTAEVENAKCQNSK    281 - 350
LEAAVAQSEQQGEAALSDARCKLAELEGALQKAKQDMACLIREYQEVMNSKLGLDIEIATYRRLLEGEEQ    351 - 420
RLCEGVEAVNVCVSSSRGGVVCGDLCVSGSRPVTGSVCSAPCNGNLVVSTGLCKPCGQLNTTCGGGSCGQ    421 - 490
GRH                                                                       491 - 493
//

Text Mined References (13)

PMID Year Title
25557232 2015 Novel KRT83 and KRT86 mutations associated with monilethrix.
25416956 2014 A proteome-scale map of the human interactome network.
23580065 2013 Shotgun proteomics reveals specific modulated protein patterns in tears of patients with primary open angle glaucoma naïve to therapy.
21916889 2011 Hair greying is associated with active hair growth.
16831889 2006 New consensus nomenclature for mammalian keratins.
15797458 2005 Keratins of the human hair follicle.
15744029 2005 A missense mutation in the type II hair keratin hHb3 is associated with monilethrix.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
More...