HORMAD1 Gene Summary [Human]
This gene encodes a HORMA domain-containing protein. HORMA domains are involved in chromatin binding and play a role in cell cycle regulation. The encoded protein may play a role in meiosis, and expression of this gene is a potential marker for cancer. A pseudogene of this gene is located on the long arm of chromosome 6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
Details
| Type | Protein Coding |
| Official Symbol | HORMAD1 |
| Official Name | HORMA domain containing 1 [Source:HGNC Symbol;Acc:HGNC:25245] |
| Ensembl ID | ENSG00000143452 |
| Bio databases IDs | |
| Aliases | HORMA domain containing 1, cancer/testis antigen 46 |
| Synonyms | 4921522K05Rik, CT46, HORMA domain containing 1, NOHMA, RGD1564960 |
| 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 HORMAD1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding
- HORMA domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- coronary artery disease
- non-insulin-dependent diabetes mellitus
- Crohn disease
- male infertility
- azoospermia
- inflammatory bowel disease
- ulcerative colitis
role in cell
- colony formation by
- cell viability
- apoptosis
- formation
- meiosis
- abnormal morphology
- degradation
- aneuploidy
- degradation in
- chromosomal aberration in
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
- Cytoplasm
- chromosome
- synaptonemal complexes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HORMAD1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- meiotic recombination checkpoint
- meiotic cell cycle
- regulation of homologous chromosome segregation
- oogenesis
- meiotic sister chromatid cohesion
- spermatogenesis
- blastocyst development
- synaptonemal complex assembly
- meiotic DNA double-strand break formation
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromosome
- synaptonemal complex
Molecular Function
What the gene product does at the molecular level
- protein binding