Homo sapiens L. (human) [HSA]

FULL NAME: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1


DESCRIPTION:
Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumor formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal. This change in supercoiling would be due to the conversion of up to one-half of the nucleosomes on polynucleosomal arrays into asymmetric structures, termed altosomes, each composed of 2 histones octamers. Stimulates in vitro the remodeling activity of SMARCA4/BRG1/BAF190A. Involved in activation of CSF1 promoter. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to post-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Plays a key role in cell-cycle control and causes cell cycle arrest in G0/G1. Also involved in vitamin D-coupled transcription regulation via its association with the WINAC complex, a chromatin-remodeling complex recruited by vitamin D receptor (VDR), which is required for the ligand-bound VDR-mediated transrepression of the CYP27B1 gene.

STRUCTURE SIMILARITY:
Belongs to the SNF5 family.


POST-TRANSLATIONAL MODIFICATION:
Phosphorylated upon DNA damage, probably by ATM or ATR.


RELATED PATHWAY(S):
chromatin remodeling


RELATED DISEASE(S):
rhabdoid tumor predisposition syndrome type 1 (RTPS1)
schwannomatosis (SCHWA)


Amino acids sequence

        10         20         30         40         50         60
MMMMALSKTF GQKPVKFQLE DDGEFYMIGS EVGNYLRMFR GSLYKRYPSL WRRLATVEER
        70         80         90        100        110        120
KKIVASSHDH GYTTLATSVT LLKASEVEEI LDGNDEKYKA VSISTEPPTY LREQKAKRNS
       130        140        150        160        170        180
QWVPTLPNSS HHLDAVPCST TINRNRMGRD KKRTFPLCFD DHDPAVIHEN ASQPEVLVPI
       190        200        210        220        230        240
RLDMEIDGQK LRDAFTWNMN EKLMTPEMFS EILCDDLDLN PLTFVPAIAS AIRQQIESYP
       250        260        270        280        290        300
TDSILEDQSD QRVIIKLNIH VGNISLVDQF EWDMSEKENS PEKFALKLCS ELGLGGEFVT
       310        320        330        340        350        360
TIAYSIRGQL SWHQKTYAFS ENPLPTVEIA IRNTGDADQW CPLLETLTDA EMEKKIRDQD
       370
RNTRRMRRLA NTAPAW    

Encoded by SMARCB1 gene

FULL NAME: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1


OTHER NAME(S):
BAF47
INI1
RDT
RTPS1
SNF5
SNF5L1
Sfh1p
Snr1
hSNFS


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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]


Nucleic acid sequence

        10         20         30         40         50         60
atgatgatga tggcgctgag caagaccttc gggcagaagc ccgtgaagtt ccagctggag
        70         80         90        100        110        120
gacgacggcg agttctacat gatcggctcc gaggtgggaa actacctccg tatgttccga
       130        140        150        160        170        180
ggttctctgt acaagagata cccctcactc tggaggcgac tagccactgt ggaagagagg
       190        200        210        220        230        240
aagaaaatag ttgcatcgtc acatgatcac ggatacacga ctctagccac cagtgtgacc
       250        260        270        280        290        300
ctgttaaaag cctcggaagt ggaagagatt ctggatggca acgatgagaa gtacaaggct
       310        320        330        340        350        360
gtgtccatca gcacagagcc ccccacctac ctcagggaac agaaggccaa gaggaacagc
       370        380        390        400        410        420
cagtgggtac ccaccctgcc caacagctcc caccacttag atgccgtgcc atgctccaca
       430        440        450        460        470        480
accatcaaca ggaaccgcat gggccgagac aagaagagaa ccttccccct ttgctttgat
       490        500        510        520        530        540
gaccatgacc cagctgtgat ccatgagaac gcatctcagc ccgaggtgct ggtccccatc
       550        560        570        580        590        600
cggctggaca tggagatcga tgggcagaag ctgcgagacg ccttcacctg gaacatgaat
       610        620        630        640        650        660
gagaagttga tgacgcctga gatgttttca gaaatcctct gtgacgatct ggatttgaac
       670        680        690        700        710        720
ccgctgacgt ttgtgccagc catcgcctct gccatcagac agcagatcga gtcctacccc
       730        740        750        760        770        780
acggacagca tcctggagga ccagtcagac cagcgcgtca tcatcaagct gaacatccat
       790        800        810        820        830        840
gtgggaaaca tttccctggt ggaccagttt gagtgggaca tgtcagagaa ggagaactca
       850        860        870        880        890        900
ccagagaagt ttgccctgaa gctgtgctcg gagctggggt tgggcgggga gtttgtcacc
       910        920        930        940        950        960
accatcgcat acagcatccg gggacagctg agctggcatc agaagaccta cgccttcagc
       970        980        990       1000       1010       1020
gagaaccctc tgcccacagt ggagattgcc atccggaaca cgggcgatgc ggaccagtgg
      1030       1040       1050       1060       1070       1080
tgcccactgc tggagactct gacagacgct gagatggaga agaagatccg cgaccaggac
      1090       1100       1110       1120       1130
aggaacacga ggcggatgag gcgtcttgcc aacacggccc cggcctggta a

Last modification date: Oct. 2, 2011