Search results:
General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| SMARCB1 | 6598 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1  | 22 | BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144  |
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
- SNP
- Drug
- External Links
Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 24286138    | 2013 | Cell line : - Source : Fatebenefratelli Hospital, Benevento, and Legnago Hospital, Verona, Italy Sample Type : CRC tumor and normal tissue No. of Sample : 134 CRC and 60 normal tissue Stage : TNM Stage I-IV | Immunohistochemistry, MSI, CIMP analysis,migration, western blotting,real time RT-PCR | Mutation | - | SMARCB1/INI1-dysregulation and genetic hot-spots on the long arm of chromosome 22 might play an important role in the CRC metastatic behavior |
Gene Details

| Gene Type | protein coding |
|---|---|
| Gene Family | - |
| Description | The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]   | Chromosome | 22 |
| Location | 22q11.23 |
| Start | 24129150   |
| End | 24176705   |
| Strand | +   |
| Gene Sequence |    Download   Select all |
| Length | 47556   |
| OMIM ID | 601607    |
| HGNC ID | HGNC:11103    |
| Unigene ID | Hs.534350    |
| Ensembl ID | ENSG00000099956    |
| PharmGKB ID | PA35953    |
mRNA Information
| mRNA ID | ?NM_001007468.1 |
|---|---|
| Exon | join(1..300,4794..4932,6597..6726,13982..14119, 16333..16460,29808..29974,38263..38453,46610..46741, 47179..47556)   | mRNA Sequence |    Download   Select all |
| Length | 1749   |
CDS Information
| Location | 240..1397 |
|---|---|
| CDS Sequence |    Download   Select all |
| CCDS ID | CCDS13817.1 |    
Protein Information
| Protein ID | NP_001007469.1 |
|---|---|
| Protein Name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
| Molecular Wt. (Da) | 122736 |
| Protein Sequence |    Download   Select all |
| Length | 385   |
| Uniprot ID | O95997 |    
| Ensembl Protein ID | ENSP00000344936   |    
Post-translational Modification Information (Source : HPRD)
| Residue | Type | site |
|---|---|---|
| S | Phosphorylation | 129;- |
| S | Phosphorylation | 120;- |
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING)      View   
| Interactant Gene ID (Source: HPRD) | Gene Symbol | HPRD ID | Ref Seq ID | Technique | References |
|---|---|---|---|---|---|
| 1051 |    CEBPB |    1801 |    NP_005185.2 |    in vitro;in vivo |    10619021    |
| 2908 |    NR3C1 |    679 |    NP_001019265.1 |    in vitro;in vivo |    10688647    |
| 4609 |    MYC |    1818 |    NP_002458.2 |    in vitro;in vivo |    10319872    |
| 5501 |    PPP1CC |    8911 |    NP_002701.1 |    in vivo |    12016208    |
| 5925 |    RB1 |    1574 |    NP_000312.2 |    in vitro |    11085541    |
| 5971 |    RELB |    6886 |    NP_006500.2 |    in vitro |    14743216    |
| 6714 |    SRC |    1819 |    NP_005408.1 |    in vivo |    12145209    |
| 7157 |    TP53 |    1859 |    NP_000537.3 |    in vitro;in vivo |    11950834    |
| 10579 |    TACC2 |    5600 |    NP_996744.2 |    in vivo |    12620397    |
| 56893 |    UBQLN4 |    5670 |    NP_064516.2 |    yeast 2-hybrid |    16169070    |
Pathway Information
No matching records could be found.
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| pfam04855 | 178-373  | SNF5 |
| cl20277 | 178-373  | SNF5 superfamily |
Ontology Information
| HPRD ID | 6018 |    
|---|---|
| Molecular Class | Unclassified |
| Molecular Function | Transferase activity (GO:0016740) |
| Biological Process | Metabolism (GO:0008152); Energy pathways (GO:0006091)   |
Drug Information
No matching records could be found.
External Links
| ArrayExpress | GO |    
|---|---|
| ICGC | GO |    
| Cancer3D | GO |    
| COSMIC | GO |    
| NCG | GO |    
| TSGene | GO |    
| Tumor Gene Family of Databases | GO |    
| CCDB | GO |    
| G2SBC | GO |    
| Osteosarcoma Database | GO |    
| RCDB | GO |    
