Smchd1 Gene Summary [Rat]
Predicted to enable ATP hydrolysis activity and protein homodimerization activity. Predicted to be involved in dosage compensation by inactivation of X chromosome; nose development; and regulation of double-strand break repair. Predicted to act upstream of or within inactivation of paternal X chromosome by genomic imprinting. Predicted to be located in chromosome, telomeric region; nuclear body; and site of double-strand break. Predicted to be active in Barr body. Human ortholog(s) of this gene implicated in facioscapulohumeral muscular dystrophy 2. Orthologous to human SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Smchd1 |
| Official Name | structural maintenance of chromosomes flexible hinge domain containing 1 [Source:RGD Symbol;Acc:1307234] |
| Ensembl ID | ENSRNOG00000014319 |
| Bio databases IDs | |
| Aliases | structural maintenance of chromosomes flexible hinge domain containing 1 |
| Synonyms | 4931400A14Rik, BAMS, FSHD2, FSHMD1B, mKIAA0650, MommeD1, RGD1307234, SMC hinge domain containing 1, structural maintenance of chromosomes flexible hinge domain containing 1 |
| Species | Rat, Rattus norvegicus |
| 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 rat Smchd1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SMC proteins Flexible Hinge Domain
- Histidine kinase-like ATPase domain
- protein homodimerization
- enzyme
- protein binding
- ATPase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- scapulohumeral muscular dystrophy
- Bosma arhinia microphthalmia syndrome
- facioscapulohumeral muscular dystrophy type 2
- COVID-19
- hereditary disorder
- Crohn disease
- tumorigenesis
- Chédiak-Steinbrinck-Higashi syndrome
- skeletal muscle atrophy
- global developmental delay with intellectual disability
regulates
- PRKN
- ATXN1
role in cell
- cell viability
- homologous recombination in
- inactivation
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
- nucleoplasm
- nuclear bodies
- Barr body
- telomeres
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the rat Smchd1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of DNA repair
- negative regulation of double-strand break repair via homologous recombination
- chromosome organization
- nose development
- dosage compensation by inactivation of X chromosome
- positive regulation of double-strand break repair via nonhomologous end joining
- double-strand break repair
Cellular Component
Where in the cell the gene product is active
- Barr body
- chromosome, telomeric region
- site of double-strand break
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- DNA binding
- protein binding
- protein homodimerization activity