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

2003-05-01  

Identity

HGNC
LOCATION
4q31.21
LOCUSID
ALIAS
ISWI,SNF2H,WCRF135,hISWI,hSNF2H
FUSION GENES

Other Information

Locus ID:

NCBI: 8467
MIM: 603375
HGNC: 11101
Ensembl: ENSG00000153147

Variants:

dbSNP: 8467
ClinVar: 8467
TCGA: ENSG00000153147
COSMIC: SMARCA5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000153147ENST00000283131O60264

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
Epigenetic regulation of gene expressionREACTOMER-HSA-212165
Negative epigenetic regulation of rRNA expressionREACTOMER-HSA-5250941
NoRC negatively regulates rRNA expressionREACTOMER-HSA-427413
Cell CycleREACTOMER-HSA-1640170
Chromosome MaintenanceREACTOMER-HSA-73886
Nucleosome assemblyREACTOMER-HSA-774815
Deposition of new CENPA-containing nucleosomes at the centromereREACTOMER-HSA-606279
DNA RepairREACTOMER-HSA-73894
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
DNA Double Strand Break ResponseREACTOMER-HSA-5693606
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaksREACTOMER-HSA-5693565
Positive epigenetic regulation of rRNA expressionREACTOMER-HSA-5250913
B-WICH complex positively regulates rRNA expressionREACTOMER-HSA-5250924

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
293782342018Circular RNA cSMARCA5 inhibits growth and metastasis in hepatocellular carcinoma.116
211726622010The ACF1 complex is required for DNA double-strand break repair in human cells.91
155431362004The Williams syndrome transcription factor interacts with PCNA to target chromatin remodelling by ISWI to replication foci.74
225252762013The miR-99 family regulates the DNA damage response through its target SNF2H.57
165144172006The chromatin remodelling complex WSTF-SNF2h interacts with nuclear myosin 1 and has a role in RNA polymerase I transcription.56
232647442013Poly(ADP-ribosyl)ation links the chromatin remodeler SMARCA5/SNF2H to RNF168-dependent DNA damage signaling.53
166037712006The WSTF-SNF2h chromatin remodeling complex interacts with several nuclear proteins in transcription.50
129725962003Functional analysis of the subunits of the chromatin assembly factor RSF.40
209749612010Human ISWI chromatin-remodeling complexes sample nucleosomes via transient binding reactions and become immobilized at active sites.38
255338432014Opposing ISWI- and CHD-class chromatin remodeling activities orchestrate heterochromatic DNA repair.37

Citation

Dessen P

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

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/42334/smarca5-(swi-snf-related-matrix-associated-actin-dependent-regulator-of-chromatin-subfamily-a-member-5)