KDM5C Gene Summary [Human]
This gene is a member of the SMCY homolog family and encodes a protein with one ARID domain, one JmjC domain, one JmjN domain and two PHD-type zinc fingers. The DNA-binding motifs suggest this protein is involved in the regulation of transcription and chromatin remodeling. Mutations in this gene have been associated with X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
Details
| Type | Protein Coding |
| Official Symbol | KDM5C |
| Official Name | lysine demethylase 5C [Source:HGNC Symbol;Acc:HGNC:11114] |
| Ensembl ID | ENSG00000126012 |
| Bio databases IDs | |
| Aliases | lysine demethylase 5C |
| Synonyms | D930009K15Rik, DXS1272E, JARID1C, LOC102555632, lysine demethylase 5C, mKIAA0234, MRX13, MRXJ, MRXSCJ, MRXSJ, RGD1560601, SMCX, XE169 |
| 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 KDM5C often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PHD zinc finger
- jmjN domain
- PLU-1-like protein
- transcription factor binding
- enzyme
- protein binding
- identical protein binding
- ARID/BRIGHT DNA binding domain
- RmlC-like cupin superfamily
- C5HC2 zinc finger
- zinc ion binding
- PHD finger superfamily
- histone demethylase activity
- ARID/BRIGHT DNA binding domain family
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast adenocarcinoma
- breast cancer
- colorectal cancer
- transitional cell bladder cancer
- spastic paraplegia
- X linked mental retardation syndromic jarid1c-related
- renal clear cell adenocarcinoma
- tumorigenesis
- hereditary disorder
- organismal death
role in cell
- apoptosis
- expression in
- proliferation
- migration
- invasion by
- autophagy in
- colony formation by
- epithelial-mesenchymal transition
- abnormal morphology
- trimethylation in
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
- Cytoplasm
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KDM5C gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- chromatin remodeling
- rhythmic process
- negative regulation of transcription, DNA-dependent
- regulation of transcription, DNA-dependent
- response to toxin
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytosol
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- zinc ion binding
- protein binding
- histone demethylase activity
- histone demethylase activity (H3-K4 specific)
- histone demethylase activity (H3-trimethyl-K4 specific)