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SMARCE1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1)

Identity

Other namesBAF57
HGNC (Hugo) SMARCE1
LocusID (NCBI) 6605
Location 17q21.2
Location_base_pair Starts at 38783976 and ends at 38804103 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)SMARCE1   11109
Cards
Entrez_Gene (NCBI)SMARCE1  6605  SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
GeneCards (Weizmann)SMARCE1
Ensembl (Hinxton)ENSG00000073584 [Gene_View]  chr17:38783976-38804103 [Contig_View]  SMARCE1 [Vega]
ICGC DataPortalENSG00000073584
cBioPortalSMARCE1
AceView (NCBI)SMARCE1
Genatlas (Paris)SMARCE1
WikiGenes6605
SOURCE (Princeton)NM_003079
Genomic and cartography
GoldenPath (UCSC)SMARCE1  -  17q21.2   chr17:38783976-38804103 -  17q21.2   [Description]    (hg19-Feb_2009)
EnsemblSMARCE1 - 17q21.2 [CytoView]
Mapping of homologs : NCBISMARCE1 [Mapview]
OMIM603111   607174   
Gene and transcription
Genbank (Entrez)AK001532 AK095047 AK294218 AK294666 BC007082
RefSeq transcript (Entrez)NM_003079
RefSeq genomic (Entrez)AC_000149 NC_000017 NC_018928 NG_032163 NT_010783 NW_001838435 NW_004929407
Consensus coding sequences : CCDS (NCBI)SMARCE1
Cluster EST : UnigeneHs.743978 [ NCBI ]
CGAP (NCI)Hs.743978
Alternative Splicing : Fast-db (Paris)GSHG0013359
Alternative Splicing GalleryENSG00000073584
Gene ExpressionSMARCE1 [ NCBI-GEO ]     SMARCE1 [ SEEK ]   SMARCE1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ969G3 (Uniprot)
NextProtQ969G3  [Medical]
With graphics : InterProQ969G3
Splice isoforms : SwissVarQ969G3 (Swissvar)
Domaine pattern : Prosite (Expaxy)HMG_BOX_2 (PS50118)   
Domains : Interpro (EBI)HMG_box_dom [organisation]  
Related proteins : CluSTrQ969G3
Domain families : Pfam (Sanger)HMG_box (PF00505)   
Domain families : Pfam (NCBI)pfam00505   
Domain families : Smart (EMBL)HMG (SM00398)  
DMDM Disease mutations6605
Blocks (Seattle)Q969G3
Human Protein AtlasENSG00000073584 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ969G3
HPRD04382
IPIIPI00017669   IPI01018063   IPI01015775   IPI01015411   IPI00470489   IPI00796698   IPI00793699   
Protein Interaction databases
DIP (DOE-UCLA)Q969G3
IntAct (EBI)Q969G3
FunCoupENSG00000073584
BioGRIDSMARCE1
InParanoidQ969G3
Interologous Interaction database Q969G3
IntegromeDBSMARCE1
STRING (EMBL)SMARCE1
Ontologies - Pathways
Ontology : AmiGOnuclear chromosome  nuclear chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II distal enhancer sequence-specific DNA binding  chromatin binding  transcription coactivator activity  RNA binding  protein binding  nucleus  nucleolus  nucleosome disassembly  chromatin remodeling  regulation of transcription from RNA polymerase II promoter  nervous system development  N-acetyltransferase activity  metabolic process  SWI/SNF complex  ligand-dependent nuclear receptor binding  transcriptional repressor complex  nucleosomal DNA binding  ATP-dependent chromatin remodeling  protein complex  negative regulation of transcription, DNA-templated  protein N-terminus binding  npBAF complex  nBAF complex  
Ontology : EGO-EBInuclear chromosome  nuclear chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II distal enhancer sequence-specific DNA binding  chromatin binding  transcription coactivator activity  RNA binding  protein binding  nucleus  nucleolus  nucleosome disassembly  chromatin remodeling  regulation of transcription from RNA polymerase II promoter  nervous system development  N-acetyltransferase activity  metabolic process  SWI/SNF complex  ligand-dependent nuclear receptor binding  transcriptional repressor complex  nucleosomal DNA binding  ATP-dependent chromatin remodeling  protein complex  negative regulation of transcription, DNA-templated  protein N-terminus binding  npBAF complex  nBAF complex  
Pathways : BIOCARTAChromatin Remodeling by hSWI/SNF ATP-dependent Complexes [Genes]    Control of Gene Expression by Vitamin D Receptor [Genes]   
Protein Interaction DatabaseSMARCE1
Wikipedia pathwaysSMARCE1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)SMARCE1
snp3D : Map Gene to Disease6605
SNP (GeneSNP Utah)SMARCE1
SNP : HGBaseSMARCE1
Genetic variants : HAPMAPSMARCE1
Exome VariantSMARCE1
1000_GenomesSMARCE1 
ICGC programENSG00000073584 
Cancer Gene: CensusSMARCE1 
Somatic Mutations in Cancer : COSMICSMARCE1 
CONAN: Copy Number AnalysisSMARCE1 
Mutations and Diseases : HGMDSMARCE1
Genomic VariantsSMARCE1  SMARCE1 [DGVbeta]
dbVarSMARCE1
ClinVarSMARCE1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM603111    607174   
MedgenSMARCE1
GENETestsSMARCE1
Disease Genetic AssociationSMARCE1
Huge Navigator SMARCE1 [HugePedia]  SMARCE1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneSMARCE1
Homology/Alignments : Family Browser (UCSC)SMARCE1
Phylogenetic Trees/Animal Genes : TreeFamSMARCE1
Chemical/Protein Interactions : CTD6605
Chemical/Pharm GKB GenePA35959
Clinical trialSMARCE1
Cancer Resource (Charite)ENSG00000073584
Other databases
Probes
Litterature
PubMed83 Pubmed reference(s) in Entrez
CoreMineSMARCE1
iHOPSMARCE1
OncoSearchSMARCE1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jul 30 14:16:23 CEST 2014

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