Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

SMARCA5 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5)

Identity

Other namesISWI
SNF2H
WCRF135
hISWI
hSNF2H
HGNC (Hugo) SMARCA5
LocusID (NCBI) 8467
Location 4q31.21
Location_base_pair Starts at 144434616 and ends at 144478642 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)SMARCA5   11101
Entrez_Gene (NCBI)SMARCA5  8467  SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5
Cards
GeneCards (Weizmann)SMARCA5
Ensembl (Hinxton)ENSG00000153147 [Gene_View]  chr4:144434616-144478642 [Contig_View]  SMARCA5 [Vega]
AceView (NCBI)SMARCA5
Genatlas (Paris)SMARCA5
SOURCE (Stanford)NM_003601
Genomic and cartography
GoldenPath (UCSC)SMARCA5  -  4q31.21   chr4:144434616-144478642 +  4q31.21   [Description]    (hg19-Feb_2009)
EnsemblSMARCA5 - 4q31.21 [CytoView]
Mapping of homologs : NCBISMARCA5 [Mapview]
OMIM603375   
Gene and transcription
Genbank (Entrez)AB010882 AF086544 AK123439 AK302841 AK308424
RefSeq transcript (SRS)NM_003601
RefSeq transcript (Entrez)NM_003601
RefSeq genomic (SRS)AC_000136 NC_000004 NC_018915 NT_016354 NW_001838921 NW_004078021
RefSeq genomic (Entrez)AC_000136 NC_000004 NC_018915 NT_016354 NW_001838921 NW_004078021
Consensus coding sequences : CCDS (NCBI)SMARCA5
Cluster EST : UnigeneHs.558422 [ SRS ] Hs.558422 [ NCBI ]
CGAP (NCI)Hs.558422
Alternative Splicing : Fast-db (Paris)GSHG0022881
Alternative Splicing GalleryENSG00000153147
Gene ExpressionSMARCA5 [ NCBI-GEO ]   SMARCA5 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60264 (SRS) O60264 (Uniprot)
NextProtO60264
With graphics : InterProO60264
Splice isoforms : SwissVarO60264(Swissvar)
Domaine pattern : Prosite (SRS)DEAH_ATP_HELICASE (PS00690)    HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)    SANT (PS51293)   
Domaine pattern : Prosite (Expaxy)DEAH_ATP_HELICASE (PS00690)    HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)    SANT (PS51293)   
Domains : Interpro (SRS)DBINO    Helicase_ATP-bd    Helicase_C    Homeodomain-like    ISWI_HAND-dom    SANT/Myb    SANT_dom    SLIDE    SNF2_N   
Domains : Interpro (EBI)DBINO    Helicase_ATP-bd    Helicase_C    Homeodomain-like    ISWI_HAND-dom    SANT/Myb    SANT_dom    SLIDE    SNF2_N   
Related proteins : CluSTrO60264
Domain families : Pfam (SRS)DBINO (PF13892)    HAND (PF09110)    Helicase_C (PF00271)    SLIDE (PF09111)    SNF2_N (PF00176)   
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)  
DMDM8467
Blocks (Seattle)O60264
Human Protein AtlasENSG00000153147
HPRD04538
IPIIPI00297211   IPI01013681   
Protein Interaction databases
DIP (DOE-UCLA)O60264
IntAct (EBI)O60264
FunCoupENSG00000153147
REACTOMESMARCA5
Protein Interaction Database8467
BioGRIDSMARCA5
InParanoidO60264
Interologous Interaction database O60264
IntegromeDBSMARCA5
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)SMARCA5
SNP (GeneSNP Utah)SMARCA5
SNP : HGBaseSMARCA5
Genetic variants : HAPMAPSMARCA5
Somatic Mutations in Cancer : COSMICSMARCA5 
CONAN: Copy Number AnalysisSMARCA5 
Translocation Breakpoints in Cancer : TICdbSMARCA5 
Mutations and Diseases : HGMDSMARCA5
OMIM603375   
GENETests603375   
Disease Genetic AssociationSMARCA5
Huge Navigator SMARCA5 [HugePedia]  SMARCA5 [HugeCancerGEM]
Genomic VariantsSMARCA5  SMARCA5 [DGVbeta]
ClinVarSMARCA5
snp3D : Map Gene to Disease8467
General knowledge
Homologs : HomoloGeneSMARCA5
Homology/Alignments : Family Browser (UCSC)SMARCA5
Phylogenetic Trees/Animal Genes : TreeFamSMARCA5
Catalytic activity : Enzyme3.6.4.- [ Enzyme-Expasy ]   3.6.4.- [ Enzyme-SRS ]   3.6.4.- [ IntEnz-EBI ]   3.6.4.- [ BRENDA ]   3.6.4.- [ KEGG ]   
Chemical/Protein Interactions : CTD8467
Chemical/Pharm GKB GenePA35951
Clinical trialSMARCA5
Cancer Resource (Charite)ENSG00000153147
Ontology : AmiGOchromatin silencing at rDNA  condensed chromosome  DNA binding  helicase activity  protein binding  ATP binding  nucleus  nucleoplasm  chromatin silencing complex  nucleolus  ATP catabolic process  double-strand break repair  nucleosome assembly  nucleosome assembly  chromatin remodeling  DNA-dependent transcription, initiation  regulation of transcription from RNA polymerase II promoter  embryo development  nucleosome positioning  NURF complex  ATPase activity  RSF complex  nucleosome binding  CENP-A containing nucleosome assembly at centromere  histone binding  ATP-dependent chromatin remodeling  nuclear replication fork  
Ontology : EGO-EBIchromatin silencing at rDNA  condensed chromosome  DNA binding  helicase activity  protein binding  ATP binding  nucleus  nucleoplasm  chromatin silencing complex  nucleolus  ATP catabolic process  double-strand break repair  nucleosome assembly  nucleosome assembly  chromatin remodeling  DNA-dependent transcription, initiation  regulation of transcription from RNA polymerase II promoter  embryo development  nucleosome positioning  NURF complex  ATPase activity  RSF complex  nucleosome binding  CENP-A containing nucleosome assembly at centromere  histone binding  ATP-dependent chromatin remodeling  nuclear replication fork  
Pathways : KEGGFolate biosynthesisStarch and sucrose metabolism
Other databases
Probes
Litterature
PubMed90 Pubmed reference(s) in Entrez
PubGeneSMARCA5
iHOPSMARCA5
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
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jun 14 17:46:09 CEST 2013

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.