SMARCAD1 Gene Summary [Human]
This gene encodes a member of the SNF subfamily of helicase proteins. The encoded protein plays a critical role in the restoration of heterochromatin organization and propagation of epigenetic patterns following DNA replication by mediating histone H3/H4 deacetylation. Mutations in this gene are associated with adermatoglyphia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Details
| Type | Protein Coding |
| Official Symbol | SMARCAD1 |
| Official Name | SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 [Source:HGNC Symbol;Acc:HGNC:18398] |
| Ensembl ID | ENSG00000163104 |
| Bio databases IDs | |
| Aliases | SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 |
| Synonyms | ADERM, BASNS, D6Pas1, ETL1, HEL1, Helicase 1, HRZ, mKIAA1122, SMARCAD1 isoform 1, SNF2 related chromatin remodeling ATPase with DExD box 1, TYS |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SMARCAD1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- helicase superfamily c-terminal domain
- DEAD/DEAH box helicase
- SNF2-related domain
- Type III restriction enzyme, res subunit
- N-terminal helicase domain of the DEAD-box helicase superfamily
- enzyme
- protein binding
- DEAD-like helicases superfamily
- DNA dependent ATPase
- Helicase conserved C-terminal domain
- DNA binding
- P-loop containing Nucleoside Triphosphate Hydrolases
Pathways
Biological processes and signaling networks where the SMARCAD1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- adermatoglyphia
- Huriez syndrome
- androgenic alopecia
- Basan syndrome
role in cell
- molecular cleavage in
- quantity
- segregation
- deacetylation in
- trimethylation in
- segregation in
- establishment
- mutation in
- establishment in
- dimethylation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- heterochromatin
- nucleoplasm
- chromatin
- pericentric heterochromatin
- replication fork
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SMARCAD1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- chromatin remodeling
- DNA double-strand break processing
- regulation of DNA recombination
- chromosome separation
Cellular Component
Where in the cell the gene product is active
- heterochromatin
- nucleus
- site of double-strand break
- nuclear replication fork
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- DNA binding
- ATP binding
- DNA-dependent ATPase activity
- protein binding
- ubiquitin binding
- helicase activity
- chromatin binding