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 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

Daniocell

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
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

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	Ensembl	831 nt	Select Tool
mRNA	smarcb1b-203 (1) Ensembl	Ensembl	850 nt	Select Tool
mRNA	smarcb1b-206 (1) Ensembl	Ensembl	1,547 nt	Select Tool
mRNA	smarcb1b-207 (1) Ensembl	Ensembl	4,253 nt	Select Tool ZFIN BLAST
ncRNA	smarcb1b-003 (1) Ensembl	Ensembl	615 nt	Select Tool
ncRNA	smarcb1b-005 (1) Ensembl	Ensembl	457 nt	Select Tool
ncRNA	smarcb1b-006 (1) Ensembl	Ensembl	645 nt	Select Tool

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