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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  22BAF47, 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   2013Cell 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-PCRMutation-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



NC_000022.10 (24129150..24176705)

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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

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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

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Length 1749  



CDS Information


   
Location240..1397
CDS Sequence

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CCDS ID CCDS13817.1



Protein Information


      
Protein IDNP_001007469.1
Protein NameSWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Molecular Wt. (Da)122736
Protein Sequence

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Length 385  
Uniprot IDO95997
Ensembl Protein ID ENSP00000344936  



Post-translational Modification Information (Source : HPRD)


Residue Type site
SPhosphorylation129;-
SPhosphorylation120;-

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
1051CEBPB1801NP_005185.2in vitro;in vivo10619021   
2908NR3C1679NP_001019265.1in vitro;in vivo10688647   
4609MYC1818NP_002458.2in vitro;in vivo10319872   
5501PPP1CC8911NP_002701.1in vivo12016208   
5925RB11574NP_000312.2in vitro11085541   
5971RELB6886NP_006500.2in vitro14743216   
6714SRC1819NP_005408.1in vivo12145209   
7157TP531859NP_000537.3in vitro;in vivo11950834   
10579TACC25600NP_996744.2in vivo12620397   
56893UBQLN45670NP_064516.2yeast 2-hybrid16169070   


Pathway Information


No matching records could be found.

Structure Information


No matching records could be found.

Domain Information




ID Location Description
pfam04855178-373  SNF5
cl20277178-373  SNF5 superfamily


Ontology Information


   
HPRD ID6018
Molecular ClassUnclassified
Molecular FunctionTransferase activity (GO:0016740)
Biological ProcessMetabolism (GO:0008152); Energy pathways (GO:0006091)  



SNP Information


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Drug Information


No matching records could be found.

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO