Gene

smarcb1b

ID

ZDB-GENE-991008-16

Name

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1b

Symbol

smarcb1b Nomenclature History

Previous Names

fc51b01
smarcb1
wu:fc51b01 (1)

Type

protein_coding_gene

Location

Chr: 21 Mapping Details/Browsers

Description

Predicted to have 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

Expression

All Expression Data

1 figure from Thisse et al., 2004

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

MGC:101626 (1 image)

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 smarcb1b 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
schwannomatosis 1	Alliance	{Schwannomatosis-1, susceptibility to}	162091

Associated With smarcb1b Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR048664	SWI/SNF Subunit INI1, DNA binding domain
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	SWI/SNF Subunit INI1, DNA binding domain
UniProtKB:Q5XJR9 InterPro	370
UniProtKB:A0A2R8QP61 InterPro	378

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	smarcb1b-202 (1) Ensembl	Havana	831 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	smarcb1b-203 (1) Ensembl	Havana	850 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	smarcb1b-206 (1) Ensembl	Havana	1547 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	smarcb1b-003 (1) Ensembl	Havana	615 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	smarcb1b-005 (1) Ensembl	Havana	457 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	smarcb1b-006 (1) Ensembl	Havana	645 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations