Home
Search

Simple

Advanced

Syndromes

Chromosomal defects

Infertility phenotypes

Highthroughput dataset
Browse

Genes

Proteins

SNPs

References

GO

Diseases

Pathways

Tools

Orthologs

SNPs

Motif scan

STRING

CDART
BLAST

BLASTN

BLASTP
Analysis

Panther

Function

GO

Pathways

Diseases
  Help
Statistics
   About Us

Search Result


Gene id 6605
Gene Summary    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary
Gene Symbol SMARCE1   Gene   UCSC   Ensembl
Aliases BAF57, CSS5
Gene name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
Alternate names SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1, BRG1-associated factor 57, SWI/SNF-related matrix-associated actin-dependent regulator of chromatin e1, chromatin remodeling complex BRG1-associated factor 57,
Gene location 17q21.2 (48223494: 48225484)     Exons: 4     NC_000003.12
Gene summary(Entrez) The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF c
OMIM 603111

Protein Summary
Protein general information Q969G3  

Name: SWI/SNF related matrix associated actin dependent regulator of chromatin subfamily E member 1 (BRG1 associated factor 57) (BAF57)

Length: 411  Mass: 46649

Sequence MSKRPSYAPPPTPAPATQMPSTPGFVGYNPYSHLAYNNYRLGGNPGTNSRVTASSGITIPKPPKPPDKPLMPYMR
YSRKVWDQVKASNPDLKLWEIGKIIGGMWRDLTDEEKQEYLNEYEAEKIEYNESMKAYHNSPAYLAYINAKSRAE
AALEEESRQRQSRMEKGEPYMSIQPAEDPDDYDDGFSMKHTATARFQRNHRLISEILSESVVPDVRSVVTTARMQ
VLKRQVQSLMVHQRKLEAELLQIEERHQEKKRKFLESTDSFNNELKRLCGLKVEVDMEKIAAEIAQAEEQARKRQ
EEREKEAAEQAERSQSSIVPEEEQAANKGEEKKDDENIPMETEETHLEETTESQQNGEEGTSTPEDKESGQEGVD
SMAEEGTSDSNTGSESNSATVEEPPTDPIPEDEKKE
Structural information
Interpro:  IPR030089  IPR009071  IPR036910  
Prosite:   PS50118

DIP:  
27614
33041
MINT:  
STRING:   ENSP00000323967
Other Databases GeneCards:  SMARCE1  Malacards:  SMARCE1

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0016514 SWI/SNF complex
 IBA cellular component
GO:0045892 negative regulation of tr
anscription, DNA-template
d
 IBA biological process
GO:0016922 nuclear receptor binding
 IBA molecular function
GO:0071564 npBAF complex
 ISS cellular component
GO:0071565 nBAF complex
 ISS cellular component
GO:0016514 SWI/SNF complex
 IEA cellular component
GO:0043044 ATP-dependent chromatin r
emodeling
 IEA biological process
GO:0006325 chromatin organization
 IEA biological process
GO:0005634 nucleus
 IEA cellular component
GO:0007399 nervous system developmen
t
 IEA biological process
GO:0003677 DNA binding
 IEA molecular function
GO:0003713 transcription coactivator
activity
 TAS molecular function
GO:0003682 chromatin binding
 TAS molecular function
GO:0000228 nuclear chromosome
 TAS cellular component
GO:0006337 nucleosome disassembly
 TAS biological process
GO:0006357 regulation of transcripti
on by RNA polymerase II
 TAS biological process
GO:0005634 nucleus
 IDA cellular component
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0016514 SWI/SNF complex
 IEA cellular component
GO:0022008 neurogenesis
 IEA biological process
GO:0071564 npBAF complex
 IEA cellular component
GO:0003723 RNA binding
 IEA molecular function
GO:0071565 nBAF complex
 IEA cellular component
GO:0003713 transcription coactivator
activity
 NAS molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0016922 nuclear receptor binding
 IPI molecular function
GO:0006337 nucleosome disassembly
 IDA biological process
GO:0016514 SWI/SNF complex
 IDA cellular component
GO:0006338 chromatin remodeling
 IDA biological process
GO:0006357 regulation of transcripti
on by RNA polymerase II
 NAS biological process
GO:0005634 nucleus
 IEA cellular component
GO:0005654 nucleoplasm
 IDA cellular component
GO:1903508 positive regulation of nu
cleic acid-templated tran
scription
 IEA biological process
GO:1903508 positive regulation of nu
cleic acid-templated tran
scription
 IEA biological process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
 IDA biological process
GO:0016514 SWI/SNF complex
 IDA cellular component
GO:0008080 N-acetyltransferase activ
ity
 IDA molecular function
GO:0047485 protein N-terminus bindin
g
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0032991 protein-containing comple
x
 HDA cellular component
GO:0031492 nucleosomal DNA binding
 HDA contributes to
GO:0000978 RNA polymerase II cis-reg
ulatory region sequence-s
pecific DNA binding
 HDA contributes to
GO:0043044 ATP-dependent chromatin r
emodeling
 HDA biological process
GO:0000790 nuclear chromatin
 HDA cellular component
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function

KEGG pathways

Expand All | Collapse All

Pathway idPathway name
hsa04714Thermogenesis
hsa05225Hepatocellular carcinoma

Diseases

Expand All | Collapse All
Associated diseases References
Coffin-Siris syndrome KEGG:H01403
Meningioma KEGG:H01556
Coffin-Siris syndrome KEGG:H01403
Meningioma KEGG:H01556
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Teratozoospermia MIK: 17327269

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17327269 Teratozoos
permia
13 (5 controls,
8 cases)
 Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm
18
 Male infertility GSE26881
 Show abstract