SETD1A Gene Summary [Human]
The protein encoded by this gene is a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at Lys4. Trimethylation of histone H3 at lysine 4 (H3K4me3) is a chromatin modification known to generally mark the transcription start sites of active genes. The protein contains SET domains, a RNA recognition motif domain and is a member of the class V-like SAM-binding methyltransferase superfamily. [provided by RefSeq, Dec 2016]
Details
| Type | Protein Coding |
| Official Symbol | SETD1A |
| Official Name | SET domain containing 1A, histone lysine methyltransferase [Source:HGNC Symbol;Acc:HGNC:29010] |
| Ensembl ID | ENSG00000099381 |
| Bio databases IDs | |
| Aliases | SET domain containing 1A, histone lysine methyltransferase |
| Synonyms | BC010250, EPEDD, EPEO2, KIAA0339, KMT2F, mKIAA0339, mNSC1, NEDSID, Nsccn1, RGD1311624, SET1, Set1A, SET domain containing 1A, SET domain containing 1A, histone lysine methyltransferase |
| 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 SETD1A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA recognition motif (RRM) superfamily
- COMPASS (Complex proteins associated with Set1p) component N
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
- Cysteine-rich motif following a subset of SET domains
- RNA recognition motif
- beta-catenin binding
- transcription factor binding
- Win motif
- protein binding
- ion channel
- RNA binding
- histone lysine N-methyltransferase activity (H3-K4 specific)
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
- SET domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- tumorigenesis
- psoriasis
- COVID-19
- hereditary disorder
- schizophrenia
- neurodevelopmental disorder with speech impairment and dysmorphic facies
- early-onset epilepsy with or without developmental delay
- ovarian cancer
- non-small cell lung cancer
- pervasive developmental disorder
role in cell
- expression in
- proliferation
- migration
- self-renewal
- organization
- invasion by
- assembly in
- differentiation
- interaction in
- stabilization 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
- nucleoplasm
- nuclear speckles
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SETD1A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- chromatin remodeling
- brain development
- response to DNA damage stimulus
- methylation
Cellular Component
Where in the cell the gene product is active
- Set1C/COMPASS complex
- nucleus
- cytoplasm
- nuclear speck
- histone methyltransferase complex
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- histone methyltransferase activity (H3-K4 specific)
- protein binding
- RNA binding
- beta-catenin binding