Gene
setd1a
- ID
- ZDB-GENE-080521-4
- Name
- SET domain containing 1A, histone lysine methyltransferase
- Symbol
- setd1a Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to enable histone H3K4 methyltransferase activity. Predicted to act upstream of or within chromatin organization and methylation. Predicted to be located in chromosome and nucleus. Predicted to be part of Set1C/COMPASS complex. Human ortholog(s) of this gene implicated in early-onset epilepsy 2 and neurodevelopmental disorder with speech impairment and dysmorphic facies. Orthologous to human SETD1A (SET domain containing 1A, histone lysine methyltransferase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| early-onset epilepsy 2 | Alliance | Epilepsy, early-onset, 2, with or without developmental delay | 618832 |
| neurodevelopmental disorder with speech impairment and dysmorphic facies | Alliance | Neurodevelopmental disorder with speech impairment and dysmorphic facies | 619056 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000504 | RNA recognition motif domain |
| Domain | IPR001214 | SET domain |
| Domain | IPR003616 | Post-SET domain |
| Domain | IPR024657 | COMPASS complex Set1 subunit, N-SET domain |
| Domain | IPR034467 | Set1A, RNA recognition motif |
| Domain | IPR037841 | Histone-lysine N-methyltransferase SETD1A/B-like, SET domain |
| Family | IPR044570 | Histone-lysine N-methyltransferase Set1-like |
| Homologous_superfamily | IPR012677 | Nucleotide-binding alpha-beta plait domain superfamily |
| Homologous_superfamily | IPR035979 | RNA-binding domain superfamily |
| Homologous_superfamily | IPR046341 | SET domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | COMPASS complex Set1 subunit, N-SET domain | Histone-lysine N-methyltransferase Set1-like | Histone-lysine N-methyltransferase SETD1A/B-like, SET domain | Nucleotide-binding alpha-beta plait domain superfamily | Post-SET domain | RNA-binding domain superfamily | RNA recognition motif domain | Set1A, RNA recognition motif | SET domain | SET domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9PSI4 | InterPro | 2252 | ||||||||||
| UniProtKB:A0A8M1QQT7 | InterPro | 2253 | ||||||||||
| UniProtKB:E9QGQ0 | InterPro | 2253 | ||||||||||
| UniProtKB:A0A8M2BBI9 | InterPro | 2252 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
setd1a-201
(1)
|
Ensembl | 6,762 nt | ||
| mRNA |
setd1a-202
(1)
|
Ensembl | 8,708 nt |
Interactions and Pathways
No data available
Plasmids
No data available