SMCHD1 Gene Summary [Human]
This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [provided by RefSeq, Dec 2011]
Details
| Type | Protein Coding |
| Official Symbol | SMCHD1 |
| Official Name | structural maintenance of chromosomes flexible hinge domain containing 1 [Source:HGNC Symbol;Acc:HGNC:29090] |
| Ensembl ID | ENSG00000101596 |
| 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 | 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 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
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 human 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