ZFIN is now using GRCz12tu for Genomic Data
Gene
smarce1
- ID
- ZDB-GENE-030131-967
- Name
- SWI/SNF related BAF chromatin remodeling complex subunit E1
- Symbol
- smarce1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable nuclear receptor binding activity. Acts upstream of or within endocardium morphogenesis. Predicted to be located in nucleus. Predicted to be part of SWI/SNF complex. Is expressed in telencephalon. Human ortholog(s) of this gene implicated in Coffin-Siris syndrome 5; familial meningioma; and meningioma. Orthologous to human SMARCE1 (SWI/SNF related BAF chromatin remodeling complex subunit E1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:55303 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Coffin-Siris syndrome 5 | Alliance | Coffin-Siris syndrome 5 | 616938 |
| {Meningioma, familial, susceptibility to} | 607174 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | High mobility group box domain | High mobility group box domain superfamily |
|---|---|---|---|---|
| UniProtKB:A0A8M2BBH2 | InterPro | 422 | ||
| UniProtKB:A0A8M9PJR1 | InterPro | 391 | ||
| UniProtKB:A0A8M9P4E1 | InterPro | 387 | ||
| UniProtKB:A0A8M3AQX7 | InterPro | 424 | ||
| UniProtKB:Q803S1 | InterPro | 420 | ||
| UniProtKB:A0A8M2BB53 | InterPro | 426 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
smarce1-201
(1)
|
Ensembl | 1,995 nt | ||
| mRNA |
smarce1-202
(1)
|
Ensembl | 2,072 nt | ||
| mRNA |
smarce1-203
(1)
|
Ensembl | 1,263 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers