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SMARCA1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1)

Identity

Other namesISWI
NURF140
SNF2L
SNF2L1
SNF2LB
SNF2LT
SWI
SWI2
HGNC (Hugo) SMARCA1
LocusID (NCBI) 6594
Location Xq25
Location_base_pair Starts at 128580478 and ends at 128657482 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)SMARCA1   11097
Cards
Entrez_Gene (NCBI)SMARCA1  6594  SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
GeneCards (Weizmann)SMARCA1
Ensembl (Hinxton)ENSG00000102038 [Gene_View]  chrX:128580478-128657482 [Contig_View]  SMARCA1 [Vega]
ICGC DataPortalENSG00000102038
cBioPortalSMARCA1
AceView (NCBI)SMARCA1
Genatlas (Paris)SMARCA1
WikiGenes6594
SOURCE (Princeton)NM_001282874 NM_001282875 NM_003069 NM_139035
Genomic and cartography
GoldenPath (UCSC)SMARCA1  -  Xq25   chrX:128580478-128657482 -  Xq25   [Description]    (hg19-Feb_2009)
EnsemblSMARCA1 - Xq25 [CytoView]
Mapping of homologs : NCBISMARCA1 [Mapview]
OMIM300012   
Gene and transcription
Genbank (Entrez)AK026426 AK123541 AW614102 BC051825 BC117447
RefSeq transcript (Entrez)NM_001282874 NM_001282875 NM_003069 NM_139035
RefSeq genomic (Entrez)AC_000155 NC_000023 NC_018934 NG_012526 NT_011786 NW_001842398 NW_004929446
Consensus coding sequences : CCDS (NCBI)SMARCA1
Cluster EST : UnigeneHs.152292 [ NCBI ]
CGAP (NCI)Hs.152292
Alternative Splicing : Fast-db (Paris)GSHG0032320
Alternative Splicing GalleryENSG00000102038
Gene ExpressionSMARCA1 [ NCBI-GEO ]     SMARCA1 [ SEEK ]   SMARCA1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP28370 (Uniprot)
NextProtP28370  [Medical]
With graphics : InterProP28370
Splice isoforms : SwissVarP28370 (Swissvar)
Catalytic activity : Enzyme3.6.4.- [ Enzyme-Expasy ]   3.6.4.-3.6.4.- [ IntEnz-EBI ]   3.6.4.- [ BRENDA ]   3.6.4.- [ KEGG ]   
Domaine pattern : Prosite (Expaxy)DEAH_ATP_HELICASE (PS00690)    HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)    SANT (PS51293)   
Domains : Interpro (EBI)DBINO [organisation]   Helicase_ATP-bd [organisation]   Helicase_C [organisation]   Homeodomain-like [organisation]   ISWI_HAND-dom [organisation]   P-loop_NTPase [organisation]   SANT/Myb [organisation]   SANT_dom [organisation]   SLIDE [organisation]   SNF2_N [organisation]  
Related proteins : CluSTrP28370
Domain families : Pfam (Sanger)DBINO (PF13892)    HAND (PF09110)    Helicase_C (PF00271)    SLIDE (PF09111)    SNF2_N (PF00176)   
Domain families : Pfam (NCBI)pfam13892    pfam09110    pfam00271    pfam09111    pfam00176   
Domain families : Smart (EMBL)DEXDc (SM00487)  HELICc (SM00490)  SANT (SM00717)  
DMDM Disease mutations6594
Blocks (Seattle)P28370
Human Protein AtlasENSG00000102038 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP28370
HPRD02055
IPIIPI00646130   IPI00216046   IPI00647510   
Protein Interaction databases
DIP (DOE-UCLA)P28370
IntAct (EBI)P28370
FunCoupENSG00000102038
BioGRIDSMARCA1
InParanoidP28370
Interologous Interaction database P28370
IntegromeDBSMARCA1
STRING (EMBL)SMARCA1
Ontologies - Pathways
Ontology : AmiGODNA strand renaturation  nuclear chromatin  DNA binding  helicase activity  protein binding  ATP binding  nucleus  chromatin remodeling  transcription, DNA-templated  brain development  DNA-dependent ATPase activity  NURF complex  neuron differentiation  nucleosome binding  annealing helicase activity  ATP-dependent chromatin remodeling  positive regulation of transcription, DNA-dependent  nucleosome-dependent ATPase activity  CERF complex  regulation of neural precursor cell proliferation  
Ontology : EGO-EBIDNA strand renaturation  nuclear chromatin  DNA binding  helicase activity  protein binding  ATP binding  nucleus  chromatin remodeling  transcription, DNA-templated  brain development  DNA-dependent ATPase activity  NURF complex  neuron differentiation  nucleosome binding  annealing helicase activity  ATP-dependent chromatin remodeling  positive regulation of transcription, DNA-dependent  nucleosome-dependent ATPase activity  CERF complex  regulation of neural precursor cell proliferation  
Protein Interaction DatabaseSMARCA1
Wikipedia pathwaysSMARCA1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)SMARCA1
snp3D : Map Gene to Disease6594
SNP (GeneSNP Utah)SMARCA1
SNP : HGBaseSMARCA1
Genetic variants : HAPMAPSMARCA1
Exome VariantSMARCA1
1000_GenomesSMARCA1 
ICGC programENSG00000102038 
Somatic Mutations in Cancer : COSMICSMARCA1 
CONAN: Copy Number AnalysisSMARCA1 
Mutations and Diseases : HGMDSMARCA1
Genomic VariantsSMARCA1  SMARCA1 [DGVbeta]
dbVarSMARCA1
ClinVarSMARCA1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM300012   
MedgenSMARCA1
GENETestsSMARCA1
Disease Genetic AssociationSMARCA1
Huge Navigator SMARCA1 [HugePedia]  SMARCA1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneSMARCA1
Homology/Alignments : Family Browser (UCSC)SMARCA1
Phylogenetic Trees/Animal Genes : TreeFamSMARCA1
Chemical/Protein Interactions : CTD6594
Chemical/Pharm GKB GenePA35947
Clinical trialSMARCA1
Cancer Resource (Charite)ENSG00000102038
Other databases
Probes
Litterature
PubMed36 Pubmed reference(s) in Entrez
CoreMineSMARCA1
iHOPSMARCA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

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

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jul 11 17:20:05 CEST 2014

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