KDM6A Gene Summary [Human]
This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated histone H3. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | KDM6A |
| Official Name | lysine demethylase 6A [Source:HGNC Symbol;Acc:HGNC:12637] |
| Ensembl ID | ENSG00000147050 |
| Bio databases IDs | |
| Aliases | lysine demethylase 6A |
| Synonyms | bA386N14.2, KABUK2, lysine demethylase 6A, lysine (K)-specific demethylase 6A, UTX |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human KDM6A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- nucleic acid binding
- 2-oxoglutarate:oxygen oxidoreductase
- chromatin binding
- enzyme
- protein binding
- sequence-specific DNA binding
- identical protein binding
- RmlC-like cupin superfamily
- DNA binding
- double-stranded DNA binding
- Tetratricopeptide repeats
- type IV pilus biogenesis/stability protein PilW
- tetratricopeptide repeat
- histone demethylase activity
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- metastasis
- advanced cancer
- neoplasia
- epithelial cancer
- tumorigenesis
- head and neck squamous cell carcinoma
- head and neck squamous cell cancer
- lung squamous cell carcinoma
- squamous cell lung cancer
- medulloblastoma
role in cell
- apoptosis
- activation in
- proliferation
- expression in
- migration
- accumulation in
- quantity
- Gap 0-Gap 1 phase
- infiltration by
- cell viability
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KDM6A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- heart development
- chromatin remodeling
- regulation of gene expression
Cellular Component
Where in the cell the gene product is active
- nucleus
- histone methyltransferase complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- chromatin DNA binding
- protein binding
- metal ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- histone demethylase activity
- histone demethylase activity (H3-K27 specific)