Property Summary

NCBI Gene PubMed Count 13
Grant Count 2
Funding $26,504
PubMed Score 9.15
PubTator Score 35.59

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma 1.492 0.000
psoriasis -1.400 0.000

Gene RIF (4)

PMID Text
20409997 Our study confirms linkage of a variant clinical form of hair-nail ectodermal dysplasia to chromosome 12 without any mutation in the coding sequences of the KRTHB5 gene.
19865094 crucial role of K85 in keratinization of hair and nails as shown by homozygous mutations in families
18021261 Transfected p65 induces transcriptional activation of Hb5.
16525032 Direct evidence relating to the molecular pathogenesis of pure hair-nail ectodermal dysplasias with KRTHB5 gene mutation.

AA Sequence

MSCRSYRISSGCGVTRNFSSCSAVAPKTGNRCCISAAPYRGVSCYRGLTGFGSRSLCNLGSCGPRIAVGG      1 - 70
FRAGSCGRSFGYRSGGVCGPSPPCITTVSVNESLLTPLNLEIDPNAQCVKQEEKEQIKSLNSRFAAFIDK     71 - 140
VRFLEQQNKLLETKWQFYQNQRCCESNLEPLFSGYIETLRREAECVEADSGRLASELNHVQEVLEGYKKK    141 - 210
YEEEVALRATAENEFVVLKKDVDCAYLRKSDLEANVEALVEESSFLRRLYEEEIRVLQAHISDTSVIVKM    211 - 280
DNSRDLNMDCIIAEIKAQYDDVASRSRAEAESWYRSKCEEMKATVIRHGETLRRTKEEINELNRMIQRLT    281 - 350
AEIENAKCQRAKLEAAVAEAEQQGEAALSDARCKLAELEGALQKAKQDMACLLKEYQEVMNSKLGLDIEI    351 - 420
ATYRRLLEGEEHRLCEGVGSVNVCVSSSRGGVSCGGLSYSTTPGRQITSGPSAIGGSITVVAPDSCAPCQ    421 - 490
PRSSSFSCGSSRSVRFA                                                         491 - 507
//

Text Mined References (14)

PMID Year Title
25114211 2014 Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli.
23580065 2013 Shotgun proteomics reveals specific modulated protein patterns in tears of patients with primary open angle glaucoma naïve to therapy.
20409997 Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation.
19865094 2010 Mutations in the keratin 85 (KRT85/hHb5) gene underlie pure hair and nail ectodermal dysplasia.
19684603 2009 Germline genomic variants associated with childhood acute lymphoblastic leukemia.
18021261 2008 Transcriptional activation of a subset of hair keratin genes by the NF-kappaB effector p65/RelA.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
16831889 2006 New consensus nomenclature for mammalian keratins.
16525032 2006 A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type.
10727209 2000 Identification of 12-lipoxygenase interaction with cellular proteins by yeast two-hybrid screening.
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