MAD2L1 Gene Summary [Human]
MAD2L1 is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. MAD2L1 is related to the MAD2L2 gene located on chromosome 1. A MAD2 pseudogene has been mapped to chromosome 14. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | MAD2L1 |
| Official Name | mitotic arrest deficient 2 like 1 [Source:HGNC Symbol;Acc:HGNC:6763] |
| Ensembl ID | ENSG00000164109 |
| Bio databases IDs | |
| Aliases | mitotic arrest deficient 2 like 1 |
| Synonyms | CMT2, HSMAD2, MAD2, MAD2 mitotic arrest deficient-like 1, MADP2, mitotic arrest deficient 2 like 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 MAD2L1 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 homodimerization
- ETGE motif
- protein binding
- HORMA domain
- identical protein binding
- ESGE motif
- DLG motif
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-squamous non-small cell lung cancer
- epithelial neoplasia
- neoplasia
- epithelial cancer
- cancer
- breast cancer
- organismal death
- idiopathic pulmonary fibrosis
- colorectal cancer
- hepatocellular carcinoma
role in cell
- survival
- apoptosis
- cell death
- cell viability
- proliferation
- quantity
- formation
- adhesion
- mitosis
- spindle checkpoint
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
- perinuclear region
- cytosol
- chromosome
- nucleoplasm
- spindle pole
- mitotic spindle
- kinetochores
- centromeres
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MAD2L1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mitotic cell cycle spindle assembly checkpoint
- cell division
- establishment of mitotic spindle orientation
- positive regulation of mitotic cell cycle spindle assembly checkpoint
- establishment of centrosome localization
- negative regulation of apoptotic process
- mitotic sister chromatid segregation
- negative regulation of mitotic cell cycle
- negative regulation of protein catabolic process
Cellular Component
Where in the cell the gene product is active
- nucleus
- perinuclear region of cytoplasm
- mitotic spindle
- cytoplasm
- spindle pole
- cytosol
- mitotic checkpoint complex
- kinetochore
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- protein homodimerization activity