SMARCAL1 Gene Summary [Human]
The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | SMARCAL1 |
| Official Name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 [Source:HGNC Symbol;Acc:HGNC:11102] |
| Ensembl ID | ENSG00000138375 |
| Bio databases IDs | |
| Aliases | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1, HepA-related protein, ATP-driven annealing helicase |
| Synonyms | 6030401P21Rik, AI851716, HARP, HHARP, LOC679248, LOC690314, Mharp, SNF2 related chromatin remodeling annealing helicase 1, SNF2 related chromatin remodeling ATPase like 1 |
| 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 SMARCAL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- HepA-related protein (HARP)
- nucleic acid binding
- SNF2-related domain
- helicase superfamily c-terminal domain
- isomerase
- enzyme
- protein binding
- DNA dependent ATPase
- Helicase conserved C-terminal domain
- single-stranded DNA binding
- replication protein A binding domain
- Type III restriction enzyme, res subunit
- N-terminal helicase domain of the DEAD-box helicase superfamily
- DEAD-like helicases superfamily
- P-loop containing Nucleoside Triphosphate Hydrolases
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- non-insulin-dependent diabetes mellitus
- Schimke immuno-osseous dysplasia
- nephrosis
- atypical hemolytic uremic syndrome
- albuminuria
- growth failure
- T cell lymphomagenesis
- Down syndrome regression disorder
regulated by
- camptothecin
- genomic DNA
- caffeine
- ATR
- hydroxyurea
role in cell
- proliferation
- expression in
- apoptosis
- survival
- damage in
- quantity
- accumulation in
- accumulation
- DNA damage response
- number
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
- cytoplasmic aggregates
- nucleoplasm
- peroxisomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SMARCAL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- DNA repair
- chromatin remodeling
- replication fork processing
- response to DNA damage stimulus
- double-strand break repair via nonhomologous end joining
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- site of double-strand break
- nuclear replication fork
- DNA replication factor A complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- helicase activity
- hydrolase activity