Any feedback?
Literature summary for 1.14.11.65 extracted from
- Hairless is a histone H3K9 demethylase (2014), FASEB J., 28, 1534-1542 .
Activating Compound
| Activating Compound | Comment | Organism | Structure |
|---|---|---|---|
| ascorbate | - |
Homo sapiens |  |
Cloned(Commentary)
| Cloned (Comment) | Organism |
|---|---|
| gene HR, real-time RT-PCR enzyme expression analysis, ectopic expression of wild-type protein hairless, HR, but not JmjC-mutant HR, leads to pronounced demethylation of H3K9 in cultured human HeLa cells, reombinant expression of Flag-tagged HR in HEK-293 cells | Homo sapiens |
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| D1012N | site-directed mutagenesis, reduced activity of the mutant compared to wild-type | Homo sapiens |
| D1012N | mutation identified in patients with atrichia with papular lesions, almost abolishes the demethylase activity | Homo sapiens |
| D1012N | the mutation abolishes the enzyme activity | Homo sapiens |
| additional information | ectopic expression of HR in HEK-293 cells leads to either upregulation or downregulation of the majority of the HR target genes, overview. HR overexpression can lead to H3K9 demethylation in the target gene promoters or transcription regulatory elements, TREs, enzyme overexpression leads to a partial demethylation of H3K9 within the TREs of Mxi1 and Caspase14 | Homo sapiens |
| V1056M | site-directed mutagenesis, reduced activity of the mutant compared to wild-type | Homo sapiens |
| V1056M | mutation identified in patients with atrichia with papular lesions, almost abolishes the demethylase activity | Homo sapiens |
| V1056M | the mutation abolishes the enzyme activity | Homo sapiens |
Localization
| Localization | Comment | Organism | GeneOntology No. | Textmining |
|---|---|---|---|---|
| nucleus | - |
Homo sapiens | 5634 | - |
Metals/Ions
| Metals/Ions | Comment | Organism | Structure |
|---|---|---|---|
| Fe2+ | required for catalysis | Homo sapiens | |
Natural Substrates/ Products (Substrates)
| Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| histone H3 N6,N6-dimethyl-L-lysine9 + 2-oxoglutarate + O2 | Homo sapiens | - |
histone H3 N6-methyl-L-lysine9 + succinate + formaldehyde + CO2 | - |
? | |
| histone H3 N6-methyl-L-lysine9 + 2-oxoglutarate + O2 | Homo sapiens | - |
histone H3 L-lysine9 + succinate + formaldehyde + CO2 | - |
? | |
| additional information | Homo sapiens | identification of multiple enzyme target genes, many of which play important roles in epidermal development, neural function, and transcriptional regulation, consistent with the predicted biological functions of enzyme hairless, HR, genomic target genes of HR, overview | ? | - |
? | |
| [histone H3]-N6,N6-dimethyl-L-lysine9 + 2 2-oxoglutarate + 2 O2 | Homo sapiens | overall reaction | [histone H3]-L-lysine9 + 2 succinate + 2 formaldehyde + 2 CO2 | - |
? | |
| [histone H3]-N6,N6-dimethyl-L-lysine9 + 2-oxoglutarate + O2 | Homo sapiens | - |
[histone H3]-N6-methyl-L-lysine9 + succinate + formaldehyde + CO2 | - |
? | |
| [histone H3]-N6-methyl-L-lysine9 + 2-oxoglutarate + O2 | Homo sapiens | - |
[histone H3]-L-lysine9 + succinate + formaldehyde + CO2 | - |
? | |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
| Homo sapiens | O43593 | - |
- |
Source Tissue
| Source Tissue | Comment | Organism | Textmining |
|---|---|---|---|
| brain | - |
Homo sapiens | - |
| brain | high expression level | Homo sapiens | - |
| dermal papilla | - |
Homo sapiens | - |
| hair follicle | - |
Homo sapiens | - |
| HEK-293 cell | - |
Homo sapiens | - |
| HeLa cell | - |
Homo sapiens | - |
| additional information | immunohistochemic analysis of tissue localization, overview | Homo sapiens | - |
| skin | - |
Homo sapiens | - |
| skin | high expression level | Homo sapiens | - |
Substrates and Products (Substrate)
| Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| a [histone H3]-N6,N6-dimethyl-L-lysine9 + 2-oxoglutarate + O2 | - |
Homo sapiens | a [histone H3]-N6-methyl-L-lysine9 + succinate + formaldehyde + CO2 | - |
? | |
| a [histone H3]-N6-methyl-L-lysine9 + 2-oxoglutarate + O2 | - |
Homo sapiens | a [histone H3]-L-lysine9 + succinate + formaldehyde + CO2 | - |
? | |
| histone H3 N6,N6-dimethyl-L-lysine9 + 2-oxoglutarate + O2 | - |
Homo sapiens | histone H3 N6-methyl-L-lysine9 + succinate + formaldehyde + CO2 | - |
? | |
| histone H3 N6-methyl-L-lysine9 + 2-oxoglutarate + O2 | - |
Homo sapiens | histone H3 L-lysine9 + succinate + formaldehyde + CO2 | - |
? | |
| additional information | identification of multiple enzyme target genes, many of which play important roles in epidermal development, neural function, and transcriptional regulation, consistent with the predicted biological functions of enzyme hairless, HR, genomic target genes of HR, overview | Homo sapiens | ? | - |
? | |
| additional information | enzyme hairless can demethylate monomethylated or dimethylated histone H3 lysine 9 (H3K9me1 or me2) | Homo sapiens | ? | - |
? | |
| [histone H3]-N6,N6-dimethyl-L-lysine9 + 2 2-oxoglutarate + 2 O2 | overall reaction | Homo sapiens | [histone H3]-L-lysine9 + 2 succinate + 2 formaldehyde + 2 CO2 | - |
? | |
| [histone H3]-N6,N6-dimethyl-L-lysine9 + 2-oxoglutarate + O2 | - |
Homo sapiens | [histone H3]-N6-methyl-L-lysine9 + succinate + formaldehyde + CO2 | - |
? | |
| [histone H3]-N6-methyl-L-lysine9 + 2-oxoglutarate + O2 | - |
Homo sapiens | [histone H3]-L-lysine9 + succinate + formaldehyde + CO2 | - |
? | |
Subunits
| Subunits | Comment | Organism |
|---|---|---|
| More | the major functional domains of enzyme HR include a single zinc finger domain, multiple LXXLL motifs that mediate protein-protein interactions, and a JmjC domain in its C-terminus | Homo sapiens |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| hairless | - |
Homo sapiens |
| hairless protein | - |
Homo sapiens |
| HDM | - |
Homo sapiens |
| histone demethylase | - |
Homo sapiens |
| histone H3K9 demethylase | - |
Homo sapiens |
Temperature Optimum [°C]
| Temperature Optimum [°C] | Temperature Optimum Maximum [°C] | Comment | Organism |
|---|---|---|---|
| 37 | - |
assay at | Homo sapiens |
pH Optimum
| pH Optimum Minimum | pH Optimum Maximum | Comment | Organism |
|---|---|---|---|
| 7.5 | - |
assay at | Homo sapiens |
General Information
| General Information | Comment | Organism |
|---|---|---|
| evolution | the hairless (HR) protein contains a Jumonji C (JmjC) domain that is conserved among a family of proteins with histone demethylase (HDM) activity | Homo sapiens |
| malfunction | two missense mutations in gene HR in patients with atrichia with papular lesions abolish the demethylase activity of the enzyme, demonstrating the role of enzyme HR demethylase activity in human disease. Various missense mutations, e.g. mutations D1012N or V1056M, in the HR JmjC domain are associated with atrichia with papular lesions (APL) | Homo sapiens |
| physiological function | identification of multiple enzyme target genes, many of which play important roles in epidermal development, neural function, and transcriptional regulation, consistent with the predicted biological functions of enzyme hairless, HR. Hairless, HR, is a H3K9 demethylase that regulates epidermal homeostasis via direct control of its target genes | Homo sapiens |
| physiological function | ectopic expression of wild-type, but not JmjC-mutant protein, leads to pronounced demethylation of H3K9 in cultured human HeLa cells and modulates expression of genes involved in hair biology, neural activity, and cell cycle and transcriptionalregulation | Homo sapiens |
| physiological function | the enzyme regulates epidermal homeostasis via direct control of its target genes | Homo sapiens |
Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.
Release 2023.1 (January 2023)
Legal
Curated at
Member of
