InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HR

Summary

InnateDB Protein

IDBP-10179.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Protein Name

hairless homolog (mouse)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000370826

InnateDB Gene

IDBG-10177 (HR)

Protein Structure

UniProt Annotation

Function

Histone demethylase that specifically demethylates both mono- and dimethylated 'Lys-9' of histone H3. May act as a transcription regulator controlling hair biology (via targeting of collagens), neural activity, and cell cycle. {ECO:0000269PubMed:24334705}.

Subcellular Localization

Nucleus.

Disease Associations

Alopecia universalis congenita (ALUNC) [MIM:203655]: A rare disorder characterized by loss of hair from the entire body. No hair are present in hair follicles on skin biopsy. {ECO:0000269PubMed:12406339, ECO:0000269PubMed:9445480, ECO:0000269PubMed:9736769}. Note=The disease is caused by mutations affecting the gene represented in this entry.Atrichia with papular lesions (APL) [MIM:209500]: An autosomal recessive disease characterized by papillary lesions over most of the body and almost complete absence of hair. Note=The disease is caused by mutations affecting the gene represented in this entry.Hypotrichosis 4 (HYPT4) [MIM:146550]: An autosomal dominant condition characterized by reduced amount of hair, alopecia, little or no eyebrows, eyelashes or body hair, and coarse, wiry, twisted hair in early childhood. {ECO:0000269PubMed:19122663}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Strongest expression of isoforms 1 and 2 is seen in the small intestine, weaker expression in brain and colon, and trace expression is found in liver, pancreas, spleen, thymus, stomach, salivary gland, appendix and trachea. Isoform 1 is always the most abundant. Isoform 1 is exclusively expressed at low levels in kidney and testis. Isoform 2 is exclusively expressed at high levels in the skin. {ECO:0000269PubMed:10051399, ECO:0000269PubMed:9736769}.

Comments

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