SMARCC1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1)
2007-04-01 AffiliationIdentity
HGNC
LOCATION
3p21.31
LOCUSID
ALIAS
BAF155,CRACC1,Rsc8,SRG3,SWI3
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6599
MIM: 601732
HGNC: 11104
Ensembl: ENSG00000173473
Variants:
dbSNP: 6599
ClinVar: 6599
TCGA: ENSG00000173473
COSMIC: SMARCC1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000173473 | ENST00000254480 | Q92922 |
| ENSG00000173473 | ENST00000454240 | F8WE13 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Chromatin organization | REACTOME | R-HSA-4839726 |
| Chromatin modifying enzymes | REACTOME | R-HSA-3247509 |
| RMTs methylate histone arginines | REACTOME | R-HSA-3214858 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38128548 | 2024 | A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus. | 1 |
| 38128548 | 2024 | A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus. | 1 |
| 36800290 | 2023 | RNF138 inhibits late inflammatory gene transcription through degradation of SMARCC1 of the SWI/SNF complex. | 5 |
| 37285932 | 2023 | First reports of fetal SMARCC1 related hydrocephalus. | 1 |
| 37639281 | 2023 | SMARCC1 is a susceptibility gene for congenital hydrocephalus with an autosomal dominant inheritance mode and incomplete penetrance. | 0 |
| 36800290 | 2023 | RNF138 inhibits late inflammatory gene transcription through degradation of SMARCC1 of the SWI/SNF complex. | 5 |
| 37285932 | 2023 | First reports of fetal SMARCC1 related hydrocephalus. | 1 |
| 37639281 | 2023 | SMARCC1 is a susceptibility gene for congenital hydrocephalus with an autosomal dominant inheritance mode and incomplete penetrance. | 0 |
| 35158202 | 2022 | Assembly and interaction of core subunits of BAF complexes and crystal study of the SMARCC1/SMARCE1 binary complex. | 2 |
| 35158202 | 2022 | Assembly and interaction of core subunits of BAF complexes and crystal study of the SMARCC1/SMARCE1 binary complex. | 2 |
| 33931740 | 2021 | Multiple interactions of the oncoprotein transcription factor MYC with the SWI/SNF chromatin remodeler. | 12 |
| 33953332 | 2021 | SWI/SNF subunit BAF155 N-terminus structure informs the impact of cancer-associated mutations and reveals a potential drug binding site. | 1 |
| 33931740 | 2021 | Multiple interactions of the oncoprotein transcription factor MYC with the SWI/SNF chromatin remodeler. | 12 |
| 33953332 | 2021 | SWI/SNF subunit BAF155 N-terminus structure informs the impact of cancer-associated mutations and reveals a potential drug binding site. | 1 |
| 32244797 | 2020 | A Coil-to-Helix Transition Serves as a Binding Motif for hSNF5 and BAF155 Interaction. | 2 |
Citation
Dessen P
SMARCC1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/47173/smarcc1
