SMARCAD1 (SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1)
2006-10-01 AffiliationIdentity
HGNC
LOCATION
4q22.3
LOCUSID
ALIAS
ADERM,BASNS,ETL1,HEL1,HRZ
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: 56916
MIM: 612761
HGNC: 18398
Ensembl: ENSG00000163104
Variants:
dbSNP: 56916
ClinVar: 56916
TCGA: ENSG00000163104
COSMIC: SMARCAD1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Signaling pathways regulating pluripotency of stem cells | KEGG | hsa04550 |
| Signaling pathways regulating pluripotency of stem cells | KEGG | ko04550 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37966719 | 2024 | Basan syndrome in a family from South India: a novel SMARCAD1 variant. | 0 |
| 37966719 | 2024 | Basan syndrome in a family from South India: a novel SMARCAD1 variant. | 0 |
| 37140056 | 2023 | MSH2-MSH3 promotes DNA end resection during homologous recombination and blocks polymerase theta-mediated end-joining through interaction with SMARCAD1 and EXO1. | 5 |
| 37761933 | 2023 | The Conserved Chromatin Remodeler SMARCAD1 Interacts with TFIIIC and Architectural Proteins in Human and Mouse. | 1 |
| 37140056 | 2023 | MSH2-MSH3 promotes DNA end resection during homologous recombination and blocks polymerase theta-mediated end-joining through interaction with SMARCAD1 and EXO1. | 5 |
| 37761933 | 2023 | The Conserved Chromatin Remodeler SMARCAD1 Interacts with TFIIIC and Architectural Proteins in Human and Mouse. | 1 |
| 33400266 | 2021 | Huriez syndrome caused by a large deletion that abrogates the skin-specific isoform of SMARCAD1. | 1 |
| 33400266 | 2021 | Huriez syndrome caused by a large deletion that abrogates the skin-specific isoform of SMARCAD1. | 1 |
| 31843968 | 2020 | SMARCAD1-mediated recruitment of the DNA mismatch repair protein MutLα to MutSα on damaged chromatin induces apoptosis in human cells. | 7 |
| 31843968 | 2020 | SMARCAD1-mediated recruitment of the DNA mismatch repair protein MutLα to MutSα on damaged chromatin induces apoptosis in human cells. | 7 |
| 31204252 | 2019 | A Ubiquitin-Binding Domain that Binds a Structural Fold Distinct from that of Ubiquitin. | 15 |
| 31204252 | 2019 | A Ubiquitin-Binding Domain that Binds a Structural Fold Distinct from that of Ubiquitin. | 15 |
| 29284678 | 2018 | The CUE1 domain of the SNF2-like chromatin remodeler SMARCAD1 mediates its association with KRAB-associated protein 1 (KAP1) and KAP1 target genes. | 18 |
| 29409814 | 2018 | SMARCAD1 Haploinsufficiency Underlies Huriez Syndrome and Associated Skin Cancer Susceptibility. | 9 |
| 29899141 | 2018 | Nucleosomes around a mismatched base pair are excluded via an Msh2-dependent reaction with the aid of SNF2 family ATPase Smarcad1. | 25 |
Citation
Dessen P
SMARCAD1 (SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1)
Atlas Genet Cytogenet Oncol Haematol. 2006-10-01
Online version: http://atlasgeneticsoncology.org/gene/43492/smarcad1
