| 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 hg19 (Hinxton) | ENSG00000102038 [Gene_View] chrX:128580478-128657482 [Contig_View] SMARCA1 [Vega] |
| Ensembl hg38 (Hinxton) | ENSG00000102038 [Gene_View] chrX:128580478-128657482 [Contig_View] SMARCA1 [Vega] |
| ICGC DataPortal | ENSG00000102038 |
| cBioPortal | SMARCA1 |
| AceView (NCBI) | SMARCA1 |
| Genatlas (Paris) | SMARCA1 |
| WikiGenes | 6594 |
| SOURCE (Princeton) | SMARCA1 |
| Genomic and cartography |
|---|
| GoldenPath hg19 (UCSC) | SMARCA1 - chrX:128580478-128657482 - Xq25 [Description] (hg19-Feb_2009) |
| GoldenPath hg38 (UCSC) | SMARCA1 - Xq25 [Description] (hg38-Dec_2013) |
| Ensembl | SMARCA1 - Xq25 [CytoView hg19] SMARCA1 - Xq25 [CytoView hg38] |
| Mapping of homologs : NCBI | SMARCA1 [Mapview hg19] SMARCA1 [Mapview hg38] |
| OMIM | 300012 |
| 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 : Unigene | Hs.152292 [ NCBI ] |
| CGAP (NCI) | Hs.152292 |
| Alternative Splicing : Fast-db (Paris) | GSHG0032320 |
| Alternative Splicing Gallery | ENSG00000102038 |
| Gene Expression | SMARCA1 [ NCBI-GEO ] SMARCA1 [ SEEK ] SMARCA1 [ MEM ] |
| SOURCE (Princeton) | Expression in : [Normal Tissue Atlas] [carcinoma Classsification] [NCI60] |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | P28370 (Uniprot) |
| NextProt | P28370 [Medical] |
| With graphics : InterPro | P28370 |
| Splice isoforms : SwissVar | P28370 (Swissvar) |
| Catalytic activity : Enzyme | 3.6.4.- [ Enzyme-Expasy ] 3.6.4.-3.6.4.- [ IntEnz-EBI ] 3.6.4.- [ BRENDA ] 3.6.4.- [ KEGG ] |
| Domaine pattern : Prosite (Expaxy) | HELICASE_ATP_BIND_1 (PS51192) HELICASE_CTER (PS51194) SANT (PS51293) |
| Domains : Interpro (EBI) | DBINO Helicase_ATP-bd Helicase_C Homeodomain-like ISWI_HAND-dom P-loop_NTPase SANT/Myb SANT_dom SLIDE SNF2_N |
| Related proteins : CluSTr | P28370 |
| 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 mutations | 6594 |
| Blocks (Seattle) | P28370 |
| Human Protein Atlas | ENSG00000102038 |
| Peptide Atlas | P28370 |
| HPRD | 02055 |
| IPI | IPI00646130 IPI00216046 IPI00647510 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | P28370 |
| IntAct (EBI) | P28370 |
| FunCoup | ENSG00000102038 |
| BioGRID | SMARCA1 |
| IntegromeDB | SMARCA1 |
| STRING (EMBL) | SMARCA1 |
| Ontologies - Pathways |
|---|
| QuickGO | P28370 |
| Ontology : AmiGO | DNA strand renaturation nuclear chromatin DNA binding helicase activity protein binding ATP binding nucleus ATP catabolic process 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-templated nucleosome-dependent ATPase activity CERF complex regulation of neural precursor cell proliferation |
| Ontology : EGO-EBI | DNA strand renaturation nuclear chromatin DNA binding helicase activity protein binding ATP binding nucleus ATP catabolic process 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-templated nucleosome-dependent ATPase activity CERF complex regulation of neural precursor cell proliferation |
| Protein Interaction Database | SMARCA1 |
| DoCM (Curated mutations) | SMARCA1 |
| Wikipedia pathways | SMARCA1 |
| Gene fusion - rearrangements |
|---|
| Polymorphisms : SNP, variants |
|---|
| NCBI Variation Viewer | SMARCA1 [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | SMARCA1 |
| dbVar | SMARCA1 |
| ClinVar | SMARCA1 |
| 1000_Genomes | SMARCA1 |
| Exome Variant Server | SMARCA1 |
| SNP (GeneSNP Utah) | SMARCA1 |
| SNP : HGBase | SMARCA1 |
| Genetic variants : HAPMAP | SMARCA1 |
| Genomic Variants (DGV) | SMARCA1 [DGVbeta] |
| Mutations |
|---|
| ICGC Data Portal | ENSG00000102038 |
| Somatic Mutations in Cancer : COSMIC | SMARCA1 |
| CONAN: Copy Number Analysis | SMARCA1 |
| LOVD (Leiden Open Variation Database) | Whole genome datasets |
| LOVD (Leiden Open Variation Database) | LOVD 3.0 shared installation |
| LOVD (Leiden Open Variation Database) | X-chromosome gene database |
| Impact of mutations | [PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] |
| Diseases |
|---|
| DECIPHER (Syndromes) | X:128580478-128657482 |
| Mutations and Diseases : HGMD | SMARCA1 |
| OMIM | 300012 |
| Medgen | SMARCA1 |
| NextProt | P28370 [Medical] |
| GENETests | SMARCA1 |
| Disease Genetic Association | SMARCA1 |
| Huge Navigator |
SMARCA1 [HugePedia] SMARCA1 [HugeCancerGEM] |
| snp3D : Map Gene to Disease | 6594 |
| DGIdb (Drug Gene Interaction db) | SMARCA1 |
| General knowledge |
|---|
| Homologs : HomoloGene | SMARCA1 |
| Homology/Alignments : Family Browser (UCSC) | SMARCA1 |
| Phylogenetic Trees/Animal Genes : TreeFam | SMARCA1 |
| Chemical/Protein Interactions : CTD | 6594 |
| Chemical/Pharm GKB Gene | PA35947 |
| Clinical trial | SMARCA1 |
| Cancer Resource (Charite) | ENSG00000102038 |
| Other databases |
|---|
| Probes |
|---|
| Litterature |
|---|
| PubMed | 39 Pubmed reference(s) in Entrez |
| CoreMine | SMARCA1 |
| GoPubMed | SMARCA1 |
| iHOP | SMARCA1 |
