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 enable DNA binding activity and transcription coactivator activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within chromatin remodeling. Predicted to be located in nuclear chromosome. Predicted to be part of brahma complex; nBAF complex; and npBAF complex. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in Coffin-Siris syndrome 3; atypical teratoid rhabdoid tumor; neurilemmomatosis; neurofibromatosis 2; 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