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Literature summary extracted from

  • Liu, L.; Kim, H.; Casta, A.; Kobayashi, Y.; Shapiro, L.; Christiano, A.
    Hairless is a histone H3K9 demethylase (2014), FASEB J., 28, 1534-1542 .
    View publication on PubMedView publication on EuropePMC

Activating Compound

EC Number Activating Compound Comment Organism Structure
1.14.11.65 ascorbate
-
Homo sapiens

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.14.11.65 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

EC Number Protein Variants Comment Organism
1.14.11.65 D1012N site-directed mutagenesis, reduced activity of the mutant compared to wild-type Homo sapiens
1.14.11.65 D1012N mutation identified in patients with atrichia with papular lesions, almost abolishes the demethylase activity Homo sapiens
1.14.11.65 D1012N the mutation abolishes the enzyme activity Homo sapiens
1.14.11.65 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
1.14.11.65 V1056M site-directed mutagenesis, reduced activity of the mutant compared to wild-type Homo sapiens
1.14.11.65 V1056M mutation identified in patients with atrichia with papular lesions, almost abolishes the demethylase activity Homo sapiens
1.14.11.65 V1056M the mutation abolishes the enzyme activity Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
1.14.11.65 nucleus
-
Homo sapiens 5634
-

Metals/Ions

EC Number Metals/Ions Comment Organism Structure
1.14.11.65 Fe2+ required for catalysis Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
1.14.11.65 histone H3 N6,N6-dimethyl-L-lysine9 + 2-oxoglutarate + O2 Homo sapiens
-
histone H3 N6-methyl-L-lysine9 + succinate + formaldehyde + CO2
-
?
1.14.11.65 histone H3 N6-methyl-L-lysine9 + 2-oxoglutarate + O2 Homo sapiens
-
histone H3 L-lysine9 + succinate + formaldehyde + CO2
-
?
1.14.11.65 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 ?
-
?
1.14.11.65 [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
-
?
1.14.11.65 [histone H3]-N6,N6-dimethyl-L-lysine9 + 2-oxoglutarate + O2 Homo sapiens
-
[histone H3]-N6-methyl-L-lysine9 + succinate + formaldehyde + CO2
-
?
1.14.11.65 [histone H3]-N6-methyl-L-lysine9 + 2-oxoglutarate + O2 Homo sapiens
-
[histone H3]-L-lysine9 + succinate + formaldehyde + CO2
-
?

Organism

EC Number Organism UniProt Comment Textmining
1.14.11.65 Homo sapiens
-
-
-
1.14.11.65 Homo sapiens O43593
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
1.14.11.65 brain
-
Homo sapiens
-
1.14.11.65 brain high expression level Homo sapiens
-
1.14.11.65 dermal papilla
-
Homo sapiens
-
1.14.11.65 hair follicle
-
Homo sapiens
-
1.14.11.65 HEK-293 cell
-
Homo sapiens
-
1.14.11.65 HeLa cell
-
Homo sapiens
-
1.14.11.65 additional information immunohistochemic analysis of tissue localization, overview Homo sapiens
-
1.14.11.65 skin
-
Homo sapiens
-
1.14.11.65 skin high expression level Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.14.11.65 a [histone H3]-N6,N6-dimethyl-L-lysine9 + 2-oxoglutarate + O2
-
Homo sapiens a [histone H3]-N6-methyl-L-lysine9 + succinate + formaldehyde + CO2
-
?
1.14.11.65 a [histone H3]-N6-methyl-L-lysine9 + 2-oxoglutarate + O2
-
Homo sapiens a [histone H3]-L-lysine9 + succinate + formaldehyde + CO2
-
?
1.14.11.65 histone H3 N6,N6-dimethyl-L-lysine9 + 2-oxoglutarate + O2
-
Homo sapiens histone H3 N6-methyl-L-lysine9 + succinate + formaldehyde + CO2
-
?
1.14.11.65 histone H3 N6-methyl-L-lysine9 + 2-oxoglutarate + O2
-
Homo sapiens histone H3 L-lysine9 + succinate + formaldehyde + CO2
-
?
1.14.11.65 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 ?
-
?
1.14.11.65 additional information enzyme hairless can demethylate monomethylated or dimethylated histone H3 lysine 9 (H3K9me1 or me2) Homo sapiens ?
-
?
1.14.11.65 [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
-
?
1.14.11.65 [histone H3]-N6,N6-dimethyl-L-lysine9 + 2-oxoglutarate + O2
-
Homo sapiens [histone H3]-N6-methyl-L-lysine9 + succinate + formaldehyde + CO2
-
?
1.14.11.65 [histone H3]-N6-methyl-L-lysine9 + 2-oxoglutarate + O2
-
Homo sapiens [histone H3]-L-lysine9 + succinate + formaldehyde + CO2
-
?

Subunits

EC Number Subunits Comment Organism
1.14.11.65 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

EC Number Synonyms Comment Organism
1.14.11.65 hairless
-
Homo sapiens
1.14.11.65 hairless protein
-
Homo sapiens
1.14.11.65 HDM
-
Homo sapiens
1.14.11.65 histone demethylase
-
Homo sapiens
1.14.11.65 histone H3K9 demethylase
-
Homo sapiens

Temperature Optimum [°C]

EC Number Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
1.14.11.65 37
-
assay at Homo sapiens

pH Optimum

EC Number pH Optimum Minimum pH Optimum Maximum Comment Organism
1.14.11.65 7.5
-
assay at Homo sapiens

General Information

EC Number General Information Comment Organism
1.14.11.65 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
1.14.11.65 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
1.14.11.65 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
1.14.11.65 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
1.14.11.65 physiological function the enzyme regulates epidermal homeostasis via direct control of its target genes Homo sapiens