Gene

smarcb1a

ID
ZDB-GENE-041114-5
Name
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1a
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 SWI/SNF superfamily-type complex. 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
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With smarcb1a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
atypical teratoid rhabdoid tumor Alliance Rhabdoid tumors, somatic 609322
atypical teratoid rhabdoid tumor Alliance {Rhabdoid tumor predisposition syndrome 1} 609322
Coffin-Siris syndrome 3 Alliance Coffin-Siris syndrome 3 614608
neurilemmomatosis Alliance {Schwannomatosis-1, susceptibility to} 162091
Associated With smarcb1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR006939 SNF5/SMARCB1/INI1
Family IPR017393 Chromatin-remodeling complex component Sfh1/SNF5
Domain Details Per Protein
Protein Length Chromatin-remodeling complex component Sfh1/SNF5 SNF5/SMARCB1/INI1
UniProtKB:F6NQ54
UniProtKB:Q5U379 373
UniProtKB:A8WG87 366
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations