DMC1 Gene Summary [Human]
This gene encodes a member of the superfamily of recombinases (also called DNA strand-exchange proteins). Recombinases are important for repairing double-strand DNA breaks during mitosis and meiosis. This protein, which is evolutionarily conserved, is reported to be essential for meiotic homologous recombination and may thus play an important role in generating diversity of genetic information. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Details
| Type | Protein Coding |
| Official Symbol | DMC1 |
| Official Name | DNA meiotic recombinase 1 [Source:HGNC Symbol;Acc:HGNC:2927] |
| Ensembl ID | ENSG00000100206 |
| Bio databases IDs | |
| Aliases | DNA meiotic recombinase 1 |
| Synonyms | dJ199H16.1, DMC1H, DNA meiotic recombinase 1, LIM15, Mei11, sgdp |
| 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 DMC1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Helix-hairpin-helix domain
- DNA repair and recombination protein RadA
- meiotic recombinase Dmc1
- ATP binding
- Rad51
- enzyme
- protein binding
- DNA dependent ATPase
- DNA repair protein RAD51
- identical protein binding
- DNA binding
- AAA domain
- DNA repair and recombination protein RadB
- recA bacterial DNA recombination protein
- single-stranded DNA binding
- double-stranded DNA binding
- recombinase
- KaiC
- N-terminal helicase domain of the DEAD-box helicase 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
- cervical intraepithelial neoplasia
- infertility condition
- azoospermia
- cervical cancer
role in cell
- apoptosis
- formation
- quantity
- differentiation
- development
- synapsis
- synapsis in
- lack
- meiosis
- prophase I
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
- nuclear foci
- chromosome
- nucleoplasm
- synaptonemal complexes
- telomeres
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DMC1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- female gamete generation
- reciprocal meiotic recombination
- spermatid development
- spermatogenesis
- male meiosis I
- chromosome organization involved in meiosis
- strand invasion
- synapsis
- DNA recombinase assembly
- mitotic recombination
- ovarian follicle development
- meiotic cell cycle
- oocyte maturation
Cellular Component
Where in the cell the gene product is active
- chromosome, telomeric region
- nucleus
- site of double-strand break
- lateral element
- chromosome
- condensed nuclear chromosome
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- DNA binding
- identical protein binding
- DNA-dependent ATPase activity
- protein binding
- recombinase activity
- double-stranded DNA binding
- single-stranded DNA binding