MAD1L1 Gene Summary [Human]
MAD1L1 is a component of the mitotic spindle-assembly checkpoint that prevents the onset of anaphase until all chromosome are properly aligned at the metaphase plate. MAD1L1 functions as a homodimer and interacts with MAD2L1. MAD1L1 may play a role in cell cycle control and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Details
| Type | Processed Transcript |
| Official Symbol | MAD1L1 |
| Official Name | mitotic arrest deficient 1 like 1 [Source:HGNC Symbol;Acc:HGNC:6762] |
| Ensembl ID | ENSG00000002822 |
| Bio databases IDs | |
| Aliases | mitotic arrest deficient 1 like 1 |
| Synonyms | hMAD1, HSMAD1, LOC686419, MAD1, MAD1-like 1, MAD1 mitotic arrest deficient 1-like 1, mitotic arrest deficient 1 like 1, MVA7, PIG9, TP53I9, TXBP181 |
| 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 MAD1L1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Mitotic checkpoint protein
- Mad2 binding domain
- transcription repression domain
- binding protein
- nuclear localization sequence
- coiled-coil domain
- leucine zipper domain
- protein binding
- basic domain
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-small cell lung cancer
- schizoaffective disorder
- schizophrenia
- neoplasia
- depressive disorder
- anxiety disorder
- non-insulin-dependent diabetes mellitus
- hypertension
- breast cancer
- coronary artery disease
role in cell
- proliferation
- quantity
- growth
- apoptosis
- activation in
- migration
- formation
- formation in
- expansion
- colony formation
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
- centrosome
- Golgi Apparatus
- midbody
- cytosol
- spindle pole
- nuclear envelope
- nuclear scaffolds
- mitotic spindle
- kinetochores
- chromatin
- kinetochore corona
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MAD1L1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell division
- mitotic cell cycle spindle assembly checkpoint
- positive regulation of mitotic cell cycle spindle assembly checkpoint
- regulation of metaphase plate congression
- negative regulation of T cell proliferation
- thymus development
- attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation
Cellular Component
Where in the cell the gene product is active
- nuclear envelope
- centrosome
- mitotic spindle
- spindle
- cytosol
- kinetochore
Molecular Function
What the gene product does at the molecular level
- kinetochore binding
- identical protein binding
- protein binding