Gene
smarcb1a
- ID
- ZDB-GENE-041114-5
- Name
- SWI/SNF related BAF chromatin remodeling complex subunit B1a
- Symbol
- smarcb1a Nomenclature History
- Previous Names
-
- zgc:92517 (1)
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to have DNA binding activity and transcription coactivator activity. Predicted to be involved in DNA repair; nucleosome disassembly; and regulation of transcription by RNA polymerase II. Predicted to localize to nuclear chromatin. Human ortholog(s) of this gene implicated in Coffin-Siris syndrome 3; atypical teratoid rhabdoid tumor; neurilemmomatosis; and rhabdoid cancer. Orthologous to human SMARCB1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7152185 (1 image)
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 |
|---|---|---|---|
| Coffin-Siris syndrome 3 | Alliance | Coffin-Siris syndrome 3 | 614608 |
| rhabdoid tumor predisposition syndrome 1 | Alliance | Rhabdoid tumors, somatic | 609322 |
| rhabdoid tumor predisposition syndrome 1 | Alliance | {Rhabdoid tumor predisposition syndrome 1} | 609322 |
| schwannomatosis 1 | Alliance | {Schwannomatosis-1, susceptibility to} | 162091 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Chromatin-remodeling complex component Sfh1/SNF5 | SNF5/SMARCB1/INI1 | SWI/SNF Subunit INI1, DNA binding domain |
|---|---|---|---|---|
|
UniProtKB:F6NQ54
|
||||
|
UniProtKB:Q5U379
|
373 | |||
|
UniProtKB:A8WG87
|
366 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
smarcb1a-201
(1)
|
Ensembl | 1,512 nt | ||
| mRNA |
smarcb1a-202
(1)
|
Ensembl | 756 nt | ||
| mRNA |
smarcb1a-203
(1)
|
Ensembl | 1,469 nt |
Interactions and Pathways
No data available
Plasmids
No data available