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 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; 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 | Length | Chromatin-remodeling complex component Sfh1/SNF5 | SNF5/SMARCB1/INI1 | SWI/SNF Subunit INI1, DNA binding domain |
---|---|---|---|---|
UniProtKB:Q5XJR9
|
370 | |||
UniProtKB:A0A2R8QP61
|
378 |
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