2. Gene
  3. HR - HR lysine demethylase and nuclear receptor corepressor Gene

HR - HR lysine demethylase and nuclear receptor corepressor Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as AU; MUHH; ALUNC; HYPT4; MUHH1; HSA277165

Gene ID: 55806 | Gene type: protein coding

About HR

Cytogenetic location: 8p21.3 Genomic coordinates (GRCh38): 8:22,114,419-22,131,052 (from NCBI)

This gene has 9 transcripts (splice variants), 107 orthologues, 3 paralogues and is associated with 7 phenotypes. Biased expression in skin (RPKM 28.2), esophagus (RPKM 5.5) and 8 other tissues.

Summary

This gene encodes a protein that is involved in hair growth. This protein functions as a transcriptional corepressor of multiple nuclear receptors, including Thyroid Hormone Receptor, the retinoic acid receptor-related orphan receptors and the vitamin D receptors, and it interacts with histone deacetylases. The translation of this protein is modulated by a regulatory open reading frame (ORF) that exists upstream of the primary ORF. Mutations in this upstream ORF cause Marie Unna hereditary hypotrichosis (MUHH), an autosomal dominant form of genetic hair loss. Mutations in this gene also cause autosomal recessive congenital alopecia and atrichia with papular lesions, Other Diseases resulting in hair loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]

HR Products(2)

mRNA Protein Name
NM_005144.5 NP_005135.2 lysine-specific demethylase hairless isoform a
NM_018411.4 NP_060881.2 lysine-specific demethylase hairless isoform b

HR Protein Structure

JmjC

JmjC: JmjC domain, hydroxylase (1053 - 1140)

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  • 1189 a.a.
Protein Preferred Names Protein Names

lysine-specific demethylase hairless

[histone H3]-dimethyl-L-lysine(9) demethylase hairless

Related Diseases

Diseases Alias
Alopecia Universalis Congenita

Alopecia Universalis

ALUNC

Atrichia, Generalized

Au

Alopecia Areata Universalis

Atrichia Generalized
Atrichia With Papular Lesions

Papular Atrichia

APL

Congenital Atrichia
Hypotrichosis 4

HYPT4

Marie Unna Hereditary Hypotrichosis 1

Muhh1

Hypotrichosis, Marie Unna Type, 1

Hypotrichosis Marie Unna 1

Marie Unna Hereditary Hypotrichosis Type 1

Hypotrichosis, Hereditary, Marie Unna Type, 1

Hypotrichosis, Type 4
Marie Unna Congenital Hypotrichosis

Marie Unna Hereditary Hypotrichosis

Hypotrichosis, Marie Unna Type

Muhh
Alopecia
Hypotrichosis
Alopecia, Congenital

Congenital Alopecia

ALPC
Telogen Effluvium
Van Der Woude Syndrome

Lip-Pit Syndrome

Vws

Cleft Lip And/Or Palate With Mucous Cysts Of Lower Lip

Vdws

Lps

Lip Pit Syndrome

Cleft Lip/Palate With Mucous Cysts Of Lower Lip

Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Approval
Bioactive Molecules (12)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-50767 Palbociclib Inhibitor 99.94% Unkown
HY-50767A Palbociclib monohydrochloride Inhibitor 99.98% Unkown
HY-A0065 Palbociclib isethionate Inhibitor 99.99% Unkown
HY-114778 Fluzoparib Inhibitor 99.85% Unkown
HY-A0088A Cefotaxime 99.06% Unkown
HY-A0088 Cefotaxime sodium Inhibitor 99.25% Unkown
HY-50767C Palbociclib hydrochloride Inhibitor 99.84% Unkown
HY-B1824 Cefpirome sulfate Inhibitor 99.62% Unkown
HY-50767B Palbociclib dihydrochloride Inhibitor / Unkown
HY-50767D Palbociclib orotate Inhibitor / Unkown
HY-B1448A Benidipine Inhibitor / Unkown
HY-B0699 Cefpirome / Unkown
Clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Phase
HY-115552 Simmiparib Inhibitor 99.51% Phase 1
Pre-clinical Phase
Bioactive Molecules (27)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-W187305 MASM7 99.56% Unkown
HY-116770 PFM01 Inhibitor 99.68% Unkown
HY-114842 TDRL-551 Inhibitor 98.98% Unkown
HY-N0252 Catharanthine Inhibitor 99.53% Unkown
HY-12475 Mutant IDH1-IN-1 Inhibitor 99.53% Unkown
HY-126972A RI(dl)-2 TFA Inhibitor 98.02% Unkown
HY-W052011 Ruzinurad Inhibitor 99.05% Unkown
HY-101813 Laflunimus Inhibitor 99.76% Unkown
HY-148078 PFM03 Inhibitor 98.04% Unkown
HY-N0252A Catharanthine Tartrate Inhibitor 99.92% Unkown
HY-N0252B Catharanthine Sulfate Inhibitor / Unkown
HY-P3492 SARS-CoV-2-IN-34 Inhibitor / Unkown
HY-115447 Clobenpropit Antagonist / Unkown
HY-144338 PARP1/BRD4-IN-1 Inhibitor / Unkown
HY-144773A Loxoprofenol-SRS tromethamine Inhibitor / Unkown
HY-146194 NHEJ inhibitor-1 Activator / Unkown
HY-149972 Antitumor agent-96 Inducer / Unkown
HY-161430 RTx-161 / Unkown
HY-161431 RTx-152 / Unkown
HY-162376 T3SS-IN-4 Inhibitor / Unkown
HY-163090 HR488B / Unkown
HY-P1807 Mast Cell Degranulating Peptide HR-2 / Unkown
HY-P2717 Ac-YVAD-AMC Inhibitor / Unkown
HY-P5497 C34 peptide Inhibitor / Unkown
HY-RS06353 HR Human Pre-designed siRNA Set A / Unkown
HY-157322 SAV13 / Unkown
HY-A0088S Cefotaxime-d3 sodium Inhibitor / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris HR VGNC VGNC:41781
Macaca mulatta HR VGNC VGNC:73518
Bos taurus HR VGNC VGNC:29950
Felis catus HR VGNC VGNC:67643
Rattus norvegicus HR RGD RGD:620634
Mus musculus HR MGD MGI:96223
Macaca fascicularis HR NCBI
Susscrofa domestica HR NCBI
Others HR NCBI