Entrez 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].
UniProt Summary: 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:0000269|PubMed:24334705}.
Pfam DomainsGO Terms
Pfam Domains
JmjC
GO Terms
histone demethylase activity (H3-K9 specific)
histone H3-K9 demethylation
histone lysine demethylation
histone demethylation
protein demethylation
protein dealkylation
demethylation
chromatin DNA binding
transcription regulatory region sequence-specific DNA binding
chromatin
oxidoreductase activity
transcription corepressor activity
nuclear body
histone modification
covalent chromatin modification
DNA-binding transcription factor activity
chromatin organization
oxidation-reduction process
chromosome organization
negative regulation of transcription, DNA-templated
negative regulation of nucleic acid-templated transcription
negative regulation of RNA biosynthetic process
negative regulation of RNA metabolic process
negative regulation of cellular macromolecule biosynthetic process
negative regulation of nucleobase-containing compound metabolic process
DNA binding
negative regulation of macromolecule biosynthetic process
negative regulation of cellular biosynthetic process
negative regulation of biosynthetic process
negative regulation of gene expression
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)