REC8 Gene Summary [Human]
This gene encodes a member of the kleisin family of SMC (structural maintenance of chromosome) protein partners. The protein localizes to the axial elements of chromosomes during meiosis in both oocytes and spermatocytes. In the mouse, the homologous protein is a key component of the meiotic cohesion complex, which regulates sister chromatid cohesion and recombination between homologous chromosomes. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | REC8 |
| Official Name | REC8 meiotic recombination protein [Source:HGNC Symbol;Acc:HGNC:16879] |
| Ensembl ID | ENSG00000100918 |
| Bio databases IDs | |
| Aliases | REC8 meiotic recombination protein |
| Synonyms | HR21spB, mrec, REC8L1, REC8 meiotic recombination protein, Rec8p |
| 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 REC8 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Middle HEAT-repeat binding domain of Rad21/Rec8-like proteins
- N terminus of Rad21 / Rec8 like protein
- protein binding
- Conserved region of Rad21 / Rec8 like protein
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- growth failure
- azoospermia
role in cell
- formation
- maturation
- meiosis I
- development
- lack
- fertilization
- loss in
- cohesion
- meiosis
- loss
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
- chromosome
- interchromatin space
- nucleoplasm
- nucleoli
- germinal vesicles
- kinetochores
- centromeres
- synaptonemal complexes
- chromosomal arms
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human REC8 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sister chromatid cohesion
- reciprocal meiotic recombination
- spermatid development
- spermatogenesis
- male meiosis I
- synaptonemal complex assembly
- double-strand break repair via homologous recombination
- fertilization
- double-strand break repair
- meiotic cell cycle
- oocyte maturation
- meiotic sister chromatid cohesion
- seminiferous tubule development
Cellular Component
Where in the cell the gene product is active
- nucleus
- lateral element
- meiotic cohesin complex
- kinetochore
- male germ cell nucleus
Molecular Function
What the gene product does at the molecular level
- protein binding
- chromatin binding