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SMARCE1 SWI/SNF related BAF chromatin remodeling complex subunit E1 [ Homo sapiens (human) ]

Gene ID: 6605, updated on 9-Jun-2025
Official Symbol
SMARCE1provided by HGNC
Official Full Name
SWI/SNF related BAF chromatin remodeling complex subunit E1provided by HGNC
Primary source
HGNC:HGNC:11109
See related
Ensembl:ENSG00000073584 MIM:603111; AllianceGenome:HGNC:11109
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CSS5; BAF57
Summary
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 complex, can bind to 4-way junction DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. The protein contains a DNA-binding HMG domain, but disruption of this domain does not abolish the DNA-binding or nucleosome-displacement activities of the SWI/SNF complex. Unlike most of the SWI/SNF complex proteins, this protein has no yeast counterpart. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in endometrium (RPKM 61.3), ovary (RPKM 41.8) and 25 other tissues See more
Orthologs
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See SMARCE1 in Genome Data Viewer
Location:
17q21.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (40624962..40647818, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (41489340..41512196, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (38781214..38804070, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985090 Neighboring gene CRISPRi-validated cis-regulatory element chr17.2443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12147 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12148 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12149 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12151 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38716282-38716799 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12153 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12154 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38720363-38721279 Neighboring gene C-C motif chemokine receptor 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12155 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:38738644-38738789 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:38744874-38746073 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12157 Neighboring gene Sharpr-MPRA regulatory region 2180 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12158 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12159 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12160 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12161 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12162 Neighboring gene Sharpr-MPRA regulatory region 7873 Neighboring gene keratin 222 Neighboring gene uncharacterized LOC105371775 Neighboring gene keratin 224, pseudogene

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Associated conditions

Description Tests
Coffin-Siris syndrome 5
MedGen: C4310788 OMIM: 616938 GeneReviews: Not available
Compare labs
Familial meningioma Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2024-12-11)

ClinGen Genome Curation PagePubMed
Triplosensitivity

No evidence available (Last evaluated 2024-12-11)

ClinGen Genome Curation Page
Products Interactant Other Gene Complex Source Pubs Description

Markers

Clone Names

  • FLJ35648

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables N-acetyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables RNA binding IEA
Inferred from Electronic Annotation
more info
 
enables chromatin binding TAS
Traceable Author Statement
more info
PubMed 
enables nuclear receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables nuclear receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to nucleosomal DNA binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transcription coactivator activity NAS
Non-traceable Author Statement
more info
PubMed 
enables transcription coactivator activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in chromatin organization IEA
Inferred from Electronic Annotation
more info
 
involved_in chromatin remodeling HDA PubMed 
involved_in chromatin remodeling IDA
Inferred from Direct Assay
more info
PubMed 
involved_in chromatin remodeling NAS
Non-traceable Author Statement
more info
PubMed 
involved_in negative regulation of DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in negative regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in nervous system development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within neurogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in nucleosome disassembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in nucleosome disassembly TAS
Traceable Author Statement
more info
PubMed 
involved_in positive regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of T cell differentiation NAS
Non-traceable Author Statement
more info
PubMed 
involved_in positive regulation of cell differentiation NAS
Non-traceable Author Statement
more info
PubMed 
involved_in positive regulation of double-strand break repair NAS
Non-traceable Author Statement
more info
PubMed 
involved_in positive regulation of myoblast differentiation NAS
Non-traceable Author Statement
more info
PubMed 
involved_in positive regulation of stem cell population maintenance NAS
Non-traceable Author Statement
more info
PubMed 
involved_in regulation of G0 to G1 transition NAS
Non-traceable Author Statement
more info
PubMed 
involved_in regulation of G1/S transition of mitotic cell cycle NAS
Non-traceable Author Statement
more info
PubMed 
involved_in regulation of mitotic metaphase/anaphase transition NAS
Non-traceable Author Statement
more info
PubMed 
involved_in regulation of nucleotide-excision repair NAS
Non-traceable Author Statement
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II NAS
Non-traceable Author Statement
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
part_of RSC-type complex NAS
Non-traceable Author Statement
more info
PubMed 
part_of SWI/SNF complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of SWI/SNF complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of SWI/SNF complex IEA
Inferred from Electronic Annotation
more info
 
part_of SWI/SNF complex NAS
Non-traceable Author Statement
more info
PubMed 
part_of bBAF complex NAS
Non-traceable Author Statement
more info
PubMed 
part_of brahma complex NAS
Non-traceable Author Statement
more info
PubMed 
located_in chromatin HDA PubMed 
located_in chromatin NAS
Non-traceable Author Statement
more info
PubMed 
located_in kinetochore NAS
Non-traceable Author Statement
more info
PubMed 
part_of nBAF complex IEA
Inferred from Electronic Annotation
more info
 
part_of nBAF complex ISS
Inferred from Sequence or Structural Similarity
more info
 
part_of nBAF complex NAS
Non-traceable Author Statement
more info
PubMed 
part_of npBAF complex IEA
Inferred from Electronic Annotation
more info
 
part_of npBAF complex ISS
Inferred from Sequence or Structural Similarity
more info
 
part_of npBAF complex NAS
Non-traceable Author Statement
more info
PubMed 
located_in nuclear chromosome TAS
Traceable Author Statement
more info
PubMed 
located_in nuclear matrix NAS
Non-traceable Author Statement
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
part_of protein-containing complex HDA PubMed 
Preferred Names
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1
Names
BRG1-associated factor 57
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin e1
chromatin remodeling complex BRG1-associated factor 57

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032163.1 RefSeqGene

    Range
    5001..25132
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003079.5NP_003070.3  SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1

    See identical proteins and their annotated locations for NP_003070.3

    Status: REVIEWED

    Source sequence(s)
    AC004585, AK095047, BC063700, BQ707908
    Consensus CDS
    CCDS11370.1
    UniProtKB/Swiss-Prot
    B3KMC1, B4DFR4, C0IMW4, C0IMW5, C0IMW7, H7C3F6, O43539, Q969G3
    UniProtKB/TrEMBL
    A0A2R8YES3
    Related
    ENSP00000323967.6, ENST00000348513.12
    Conserved Domains (3) summary
    PTZ00121
    Location:110411
    PTZ00121; MAEBL; Provisional
    COG3883
    Location:227320
    CwlO1; Uncharacterized N-terminal domain of peptidoglycan hydrolase CwlO [Function unknown]
    cd01390
    Location:70131
    HMGB-UBF_HMG-box; class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone chromosomal ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    40624962..40647818 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    41489340..41512196 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)