Type | Description |
---|---|
Definition | HR lysine demethylase and nuclear receptor corepressor |
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 |
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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Refseq |
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