SETD5 Gene Summary [Human]
This function of this gene has yet to be determined but based on sequence similarity to other SET domain proteins it may function as a histone methyltransferase. Mutations in this gene have been associated with an autosomal dominant form of intellectual disability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | SETD5 |
| Official Name | SET domain containing 5 [Source:HGNC Symbol;Acc:HGNC:25566] |
| Ensembl ID | ENSG00000168137 |
| Bio databases IDs | |
| Aliases | SET domain containing 5 |
| Synonyms | 2900045N06Rik, C330007C20, mKIAA1757, MRD23, RGD1310433, SETD5A, SET domain containing 5 |
| 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 SETD5 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 (H3-K9 specific)
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
- histone lysine N-methyltransferase activity (H3-K36 specific)
- SET domain
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
- transcription co-repressor
- 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 23
- neurodevelopmental disorder
- pervasive developmental disorder
- hereditary disorder
- mental retardation
- syndromic complex neurodevelopmental disorder
- developmental disorder
- metabolic syndrome X
- castration refractory prostate cancer
- non-insulin-dependent diabetes mellitus
role in cell
- expression in
- organization
- binding in
- O-GlcNAcylation 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
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SETD5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- chromatin remodeling
- cognition
- negative regulation of transcription from RNA polymerase III promoter
- regulation of transcription elongation, DNA-dependent
- regulation of transcription, DNA-dependent
- regulation of synapse assembly
- methylation
Cellular Component
Where in the cell the gene product is active
- nucleus
- euchromatin
- Rpd3L-Expanded complex
- Set3 complex
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- transcription corepressor activity
- methylated histone residue binding
- histone methyltransferase activity (H3-K9 specific)
- histone methyltransferase activity (H3-K36 specific)