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

HR - HR lysine demethylase and nuclear receptor corepressor Gene

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
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HR Protein Structure

JmjC

JmjC: JmjC domain, hydroxylase (1053 - 1140)

  • 0
  • 200
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  • 800
  • 1000
  • 1189 a.a.
Protein Preferred Names Protein Names

lysine-specific demethylase hairless

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

HR Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
HR O43593 KRTAP11-1 Homo sapiens Q8IUC1
Validated Y2H
32296183
Intra
HR O43593 KRTAP11-1 Homo sapiens Q8IUC1
Y2H Prey Pooling
32296183
Intra
HR O43593 KRTAP11-1 Homo sapiens Q8IUC1
Y2H Array
32296183
Intra
HR O43593 KLHL20 Homo sapiens Q9BS75
Y2H Prey Pooling
32296183
Intra
HR O43593 KLHL20 Homo sapiens Q9BS75
Y2H Array
32296183
Intra
HR O43593 KLHL20 Homo sapiens Q9BS75
Validated Y2H
32296183
Intra
HR O43593 KRTAP13-2 Homo sapiens Q52LG2
Validated Y2H
32296183
Intra
HR O43593 KRTAP13-2 Homo sapiens Q52LG2
Y2H Prey Pooling
32296183
Intra
HR O43593 KRTAP13-2 Homo sapiens Q52LG2
Y2H Array
32296183
Intra
HR O43593 SPAG8 Homo sapiens Q99932-2
Y2H Prey Pooling
32296183
Intra
HR O43593 SPAG8 Homo sapiens Q99932-2
Y2H Array
32296183
Intra
HR O43593 SPAG8 Homo sapiens Q99932-2
Validated Y2H
32296183
Intra
HR O43593 ACTMAP Homo sapiens Q5BKX5-3
Y2H Array
32296183
Intra
HR O43593 ACTMAP Homo sapiens Q5BKX5-3
Y2H Prey Pooling
32296183
Intra
HR O43593 ACTMAP Homo sapiens Q5BKX5-3
Validated Y2H
32296183
Intra
HR O43593 FAM168A Homo sapiens Q92567-2
Y2H Array
32296183
Intra
HR O43593 FAM168A Homo sapiens Q92567-2
Y2H Prey Pooling
32296183
Intra
HR O43593 FAM168A Homo sapiens Q92567-2
Validated Y2H
32296183
Intra
HR O43593 KRTAP15-1 Homo sapiens Q3LI76
Y2H Prey Pooling
32296183
Intra
HR O43593 KRTAP15-1 Homo sapiens Q3LI76
Validated Y2H
32296183
Intra
HR O43593 KRTAP15-1 Homo sapiens Q3LI76
Y2H Array
32296183
Intra
HR O43593 ZMYND12 Homo sapiens Q9H0C1
Validated Y2H
32296183
Intra
HR O43593 ZMYND12 Homo sapiens Q9H0C1
Y2H Prey Pooling
32296183
Intra
HR O43593 ZMYND12 Homo sapiens Q9H0C1
Y2H Array
32296183
Intra
HR O43593 SPRY3 Homo sapiens O43610
Y2H Array
32296183
Intra
HR O43593 SPRY3 Homo sapiens O43610
Validated Y2H
32296183
Intra
HR O43593 SPRY3 Homo sapiens O43610
Y2H Prey Pooling
32296183
Intra
HR O43593 ABHD11 Homo sapiens Q8NFV4-4
Validated Y2H
32296183
Intra
HR O43593 ABHD11 Homo sapiens Q8NFV4-4
Y2H Prey Pooling
32296183
Intra
HR O43593 ABHD11 Homo sapiens Q8NFV4-4
Y2H Array
32296183
Intra
HR O43593 RBP3 Homo sapiens P10745
Validated Y2H
32296183
Intra
HR O43593 RBP3 Homo sapiens P10745
Y2H Prey Pooling
32296183
Intra
HR O43593 RBP3 Homo sapiens P10745
Y2H Array
32296183
Intra
HR O43593 TSC1 Homo sapiens Q86WV8
Validated Y2H
32296183
Intra
HR O43593 TSC1 Homo sapiens Q86WV8
Y2H Array
32296183
Intra
HR O43593 TSC1 Homo sapiens Q86WV8
Y2H Prey Pooling
32296183
Intra
HR O43593 ATP23 Homo sapiens Q9Y6H3
Validated Y2H
32296183
Intra
HR O43593 ATP23 Homo sapiens Q9Y6H3
Y2H Prey Pooling
32296183
Intra
HR O43593 ATP23 Homo sapiens Q9Y6H3
Y2H Array
32296183
Intra
HR O43593 CNFN Homo sapiens Q9BYD5
Y2H Array
32296183
Intra
HR O43593 CNFN Homo sapiens Q9BYD5
Validated Y2H
32296183
Intra
HR O43593 CNFN Homo sapiens Q9BYD5
Y2H Prey Pooling
32296183
Intra
HR O43593 AMMECR1 Homo sapiens Q9Y4X0-3
Validated Y2H
32296183
Intra
HR O43593 AMMECR1 Homo sapiens Q9Y4X0-3
Y2H Prey Pooling
32296183
Intra
HR O43593 AMMECR1 Homo sapiens Q9Y4X0-3
Y2H Array
32296183
Intra
HR O43593 KRTAP6-3 Homo sapiens Q3LI67
Y2H Prey Pooling
32296183
Intra
HR O43593 KRTAP6-3 Homo sapiens Q3LI67
Y2H Array
32296183
Intra
HR O43593 GEMIN4 Homo sapiens P57678
Y2H Prey Pooling
32296183
Intra
HR O43593 GEMIN4 Homo sapiens P57678
Validated Y2H
32296183
Intra
HR O43593 GEMIN4 Homo sapiens P57678
Y2H Array
32296183
Intra
HR O43593 CYSRT1 Homo sapiens A8MQ03
Y2H Prey Pooling
32296183
Intra
HR O43593 CYSRT1 Homo sapiens A8MQ03
Y2H Array
32296183
Intra
HR O43593 KRTAP3-3 Homo sapiens Q9BYR6
Validated Y2H
32296183
Intra
HR O43593 KRTAP3-3 Homo sapiens Q9BYR6
Y2H Prey Pooling
32296183
Intra
HR O43593 KRTAP3-3 Homo sapiens Q9BYR6
Y2H Array
32296183
Intra
HR O43593 INCA1 Homo sapiens Q0VD86
Validated Y2H
32296183
Intra
HR O43593 INCA1 Homo sapiens Q0VD86
Y2H Array
32296183
Intra
HR O43593 INCA1 Homo sapiens Q0VD86
Y2H Prey Pooling
32296183
Intra
HR O43593 CFAP68 Homo sapiens Q9H5F2
Validated Y2H
32296183
Intra
HR O43593 CFAP68 Homo sapiens Q9H5F2
Y2H Prey Pooling
32296183
Intra
HR O43593 CFAP68 Homo sapiens Q9H5F2
Y2H Array
32296183
Intra
HR O43593 PLA2G10 Homo sapiens O15496
Y2H Prey Pooling
32296183
Intra
HR O43593 PLA2G10 Homo sapiens O15496
Y2H Array
32296183
Intra
HR O43593 HOXA1 Homo sapiens P49639
Validated Y2H
32296183
Intra
HR O43593 HOXA1 Homo sapiens P49639
Y2H Prey Pooling
32296183
Intra
HR O43593 HOXA1 Homo sapiens P49639
Y2H Array
32296183
Intra
HR O43593 KRTAP3-1 Homo sapiens Q9BYR8
Y2H Prey Pooling
32296183
Intra
HR O43593 KRTAP3-1 Homo sapiens Q9BYR8
Validated Y2H
32296183
Intra
HR O43593 KRTAP3-1 Homo sapiens Q9BYR8
Y2H Array
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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 NCBI:102146603
Canis lupus familiaris HR NCBI
Susscrofa domestica HR NCBI
Others HR NCBI