KMT5B Gene Summary [Human]
This gene encodes a protein that contains a SET domain. SET domains appear to be protein-protein interaction domains that mediate interactions with a family of proteins that display similarity with dual-specificity phosphatases (dsPTPases). The function of this gene has not been determined. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
Details
| Type | Protein Coding |
| Official Symbol | KMT5B |
| Official Name | lysine methyltransferase 5B [Source:HGNC Symbol;Acc:HGNC:24283] |
| Ensembl ID | ENSG00000110066 |
| Bio databases IDs | |
| Aliases | lysine methyltransferase 5B, Histone-lysine N-methyltransferase |
| Synonyms | C630029K18Rik, CGI-85, FLJ20039, lysine methyltransferase 5B, MRD51, SUV420H1 |
| 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 KMT5B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- histone lysine N-methyltransferase activity (H4-K20 specific)
- histone methyltransferase
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
- binding protein
- SET domain
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
- chromatin binding
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal dominant mental retardation type 51
- breast carcinoma
- hereditary disorder
- pervasive developmental disorder
- complex neurodevelopmental disorder
- mental retardation
- acute myeloid leukemia
- neural tube defect
- colon cancer
- infection by HIV-1
regulated by
- Caco2 cells
- ammonium
- PIWIL4
role in cell
- expression in
- proliferation
- binding in
- growth
- migration
- cell cycle progression
- sensitivity
- invasion
- scattering
- binding
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
- nuclear fraction
- microtubule cytoskeleton
- fibrillar center
- cytoplasmic ribonucleoprotein granule
- cilia
- Plasma Membrane
- basal bodies
- centrosome
- cytoplasmic bridges
- nucleoplasm
- nucleoli
- mitotic spindle
- centromeres
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KMT5B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- muscle organ development
- DNA repair
- chromatin remodeling
- positive regulation of isotype switching
- positive regulation of double-strand break repair via nonhomologous end joining
- methylation
Cellular Component
Where in the cell the gene product is active
- nucleus
- condensed chromosome, centromeric region
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- histone methyltransferase activity
- chromatin binding
- histone methyltransferase activity (H4-K20 specific)