Homo sapiens Gene: HR
Summary
InnateDB Gene IDBG-10177.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HR
Gene Name hairless homolog (mouse)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000168453
Encoded Proteins
hairless homolog (mouse)
hairless homolog (mouse)
hairless homolog (mouse)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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 multiple regulatory ORFs that exist upstream of the primary ORF. Mutations in one of these upstream ORFs, U2HR, 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, Feb 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:22114415-22133384
Strand Reverse strand
Band p21.3
Transcripts
ENST00000381418 ENSP00000370826
ENST00000312841 ENSP00000326765
ENST00000522016
ENST00000522039
ENST00000517699 ENSP00000430413
ENST00000518461
ENST00000519619
ENST00000522759
ENST00000518377
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 11 [view]
Protein-Protein 11 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0003714 transcription corepressor activity
GO:0005515 protein binding
GO:0016491 oxidoreductase activity
GO:0046872 metal ion binding
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0045892 negative regulation of transcription, DNA-templated
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005634 nucleus
GO:0016604 nuclear body
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 55806
UniGene Hs.272367 Hs.594974
RefSeq NM_005144 NM_018411 XM_005273569 XM_006716367
HUGO HGNC:5172
OMIM 602302
CCDS CCDS6022 CCDS6023
HPRD 03808
IMGT
EMBL
GenPept
RNA Seq Atlas 55806