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SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 [ Homo sapiens (human) ]

Gene ID: 6605, updated on 5-Jul-2020

Summary

Official Symbol
SMARCE1provided by HGNC
Official Full Name
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1provided by HGNC
Primary source
HGNC:HGNC:11109
See related
Ensembl:ENSG00000073584 MIM:603111
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

Genomic context

See SMARCE1 in Genome Data Viewer
Location:
17q21.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (40624962..40647818, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (38781214..38805658, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene C-C motif chemokine receptor 7 Neighboring gene Sharpr-MPRA regulatory region 2180 Neighboring gene keratin 222 Neighboring gene uncharacterized LOC105371775 Neighboring gene keratin 24

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ35648

Gene Ontology Provided by GOA

Function Evidence Code Pubs
N-acetyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
RNA binding IEA
Inferred from Electronic Annotation
more info
 
contributes_to RNA polymerase II proximal promoter sequence-specific DNA binding HDA PubMed 
chromatin binding TAS
Traceable Author Statement
more info
PubMed 
nuclear receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to nucleosomal DNA binding HDA PubMed 
protein N-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription coactivator activity NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
SWI/SNF complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SWI/SNF complex IDA
Inferred from Direct Assay
more info
PubMed 
nBAF complex ISS
Inferred from Sequence or Structural Similarity
more info
 
npBAF complex ISS
Inferred from Sequence or Structural Similarity
more info
 
nuclear chromatin HDA PubMed 
nuclear chromosome TAS
Traceable Author Statement
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
protein-containing complex HDA PubMed 

General protein information

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 e1
chromatin remodeling complex BRG1-associated factor 57

NCBI Reference Sequences (RefSeq)

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
    Q969G3
    UniProtKB/TrEMBL
    A0A024R1S7
    Related
    ENSP00000323967.6, ENST00000348513.12
    Conserved Domains (3) summary
    cd01390
    Location:70131
    HMGB-UBF_HMG-box; 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 ...
    cl25732
    Location:220328
    SMC_N; RecF/RecN/SMC N terminal domain
    cl26511
    Location:110411
    Neuromodulin_N; Gap junction protein N-terminal region

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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