Gene
smarcb1b
- ID
- ZDB-GENE-991008-16
- Name
- SWI/SNF related BAF chromatin remodeling complex subunit B1b
- Symbol
- smarcb1b Nomenclature History
- Previous Names
-
- fc51b01
- smarcb1
- wu:fc51b01 (1)
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to enable transcription coactivator activity. Predicted to be involved in chromatin remodeling and regulation of transcription by RNA polymerase II. 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; meningioma; rhabdoid cancer; rhabdoid tumor predisposition syndrome 1; and schwannomatosis (multiple). Orthologous to human SMARCB1 (SWI/SNF related BAF chromatin remodeling complex subunit B1).
- 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
-
- MGC:101626 (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 | Additional Resources | Length | Chromatin-remodeling complex component Sfh1/SNF5 | SNF5/SMARCB1/INI1 | SWI/SNF Subunit INI1, DNA binding domain |
|---|---|---|---|---|---|
| UniProtKB:Q5XJR9 | InterPro | 370 | |||
| UniProtKB:A0A2R8QP61 | InterPro | 378 | |||
| UniProtKB:A0AB40E641 | InterPro | 366 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
smarcb1b-202
(1)
|
Ensembl | 831 nt | ||
| mRNA |
smarcb1b-203
(1)
|
Ensembl | 850 nt | ||
| mRNA |
smarcb1b-206
(1)
|
Ensembl | 1,547 nt | ||
| mRNA |
smarcb1b-207
(1)
|
Ensembl | 4,253 nt | ||
| ncRNA |
smarcb1b-003
(1)
|
Ensembl | 615 nt | ||
| ncRNA |
smarcb1b-005
(1)
|
Ensembl | 457 nt | ||
| ncRNA |
smarcb1b-006
(1)
|
Ensembl | 645 nt |
Interactions and Pathways
No data available
Plasmids
No data available