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55806 HR

55806

HR

HR lysine demethylase and nuclear receptor corepressor

protein-coding

Homo sapiens

基因描述

Type Description
Definition HR lysine demethylase and nuclear receptor corepressor

研究结论

Date Results Publications
2020-02-29 12:15:00 These results suggest that transcriptional repression or mutation of HR may contribute to glioblastoma pathogenesis, which uncovers a role of HR in brain and suggests that modulating HR activity in glioblastoma may be a therapeutic strategy. 30191601
2019-08-31 10:54:00 Study in a large, five-generation Han Chinese family with several patients presenting with Marie Unna hereditary hypotrichosis (MUHH) and multiple familial trichoepithelioma (MFT) revealed that the c.1A>G mutation in HR (U2HR) was present in all MUHH patients. No pathogenic variants were found in EPS8L3 or CYLD in any family members but FABP12 (rs536105592 G>A) was identified in the patients with both MUHH and MFT. 30809827
2018-06-02 10:40:00 summary of the current knowledge of hairless protein (HR) bioactions, how HR mutations may be contributing to alopecia as well as to cancer 28543886
2017-11-04 12:50:00 mammalian Hr is a phosphoprotein which can exert cross-talk with the p53 pathway with important implications for the regulation of cell proliferation and differentiation in tissues such as skin and brain where Hr is highly expressed. 27355563
2017-07-01 11:33:00 Mutations identified extend the spectrum of mutations in the HR gene resulting in Atrichia with papular lesions. 26680117

名称对应

Type IDs
Synonymous ALUNC, AU, HSA277165, HYPT4, MUHH, MUHH1
Gene
UniProtKB-ID: HAIR_HUMAN
UniprotKB: O43593
UniParc: UPI000013EB0B, UPI000013F372
EMBL: AJ400836, AJ400825, AJ400828, AJ277252, AJ277251, AJ277249, AJ400829, AJ400826, AJ277165, AJ400830, AJ400834, AJ277253, AJ400835, AJ400831, BC067128, AJ400827, AJ400837, AF039196, AJ277250, AJ400832, AJ400833
Ensembl: ENSG00000168453
KO: hsa:55806
Nucleutide sequences
EMBL-CDS: CAB86602.1, AAH67128.1, AAC32258.3, CAB87577.2
Ensembl_TRS: ENST00000381418, ENST00000312841
Protein sequencees
Ensembl_PRO: ENSP00000326765, ENSP00000370826
RefSeq: NP_060881.2, XP_005273626.1, XP_006716430.1, NP_005135.2
Others
UniRef100: UniRef100_O43593
UniRef90: UniRef90_O43593
UniRef50: UniRef50_O43593
UniGene: Hs.272367
CCDS: CCDS6023.1, CCDS6022.1

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