Gene
smarcd1
- ID
- ZDB-GENE-030131-1835
- Name
- SWI/SNF related BAF chromatin remodeling complex subunit D1
- Symbol
- smarcd1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Involved in hemopoiesis; somite development; and spinal cord development. Predicted to localize to SWI/SNF complex; nBAF complex; and npBAF complex. Human ortholog(s) of this gene implicated in Coffin-Siris syndrome. Is expressed in ventricular zone. Orthologous to human SMARCD1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:55436 (1 image)
- bc049347 (8 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Coffin-Siris syndrome 11 | Alliance | Coffin-Siris syndrome 11 | 618779 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | SWIB domain | SWIB/MDM2 domain | SWIB/MDM2 domain superfamily | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D 1, SWIB domain |
|---|---|---|---|---|---|
|
UniProtKB:Q802C8
|
510 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
smarcd1-201
(1)
|
Ensembl | 2,697 nt | ||
| ncRNA |
smarcd1-002
(1)
|
Ensembl | 811 nt |
Interactions and Pathways
No data available
Plasmids
No data available