MAML1 Gene Summary [Human]
This protein is the human homolog of mastermind, a Drosophila protein that plays a role in the Notch signaling pathway involved in cell-fate determination. There is in vitro evidence that the human homolog forms a complex with the intracellular portion of human Notch receptors and can increase expression of a Notch-induced gene. This evidence supports its proposed function as a transcriptional co-activator in the Notch signaling pathway. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | MAML1 |
| Official Name | mastermind like transcriptional coactivator 1 [Source:HGNC Symbol;Acc:HGNC:13632] |
| Ensembl ID | ENSG00000161021 |
| Bio databases IDs | |
| Aliases | mastermind like transcriptional coactivator 1, mastermind homolog |
| Synonyms | D930008C07RIK, Mam-1, mastermind-like transcriptional coactivator 1, mKIAA0200 |
| 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 MAML1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- MamL-1 domain
- activation domain
- transcription regulator
- transcription co-activator
- protein kinase binding
- protein binding
- basic domain
- peptide antigen binding
Pathways
Biological processes and signaling networks where the MAML1 gene in human plays a role, providing insight into its function and relevance in health or disease.
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
- tumorigenesis
- rheumatic fever
- insomnia
- rotator cuff injury
- urothelial bladder carcinoma
- transitional cell bladder cancer
- hyperplasia
- muscular dystrophy
- experimental autoimmune encephalomyelitis
role in cell
- expression in
- differentiation
- proliferation
- phosphorylation in
- size
- cell death
- accumulation
- number
- formation
- colony formation by
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 fraction
- nucleoplasm
- nuclear bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MAML1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- Notch signaling pathway
- atrioventricular node cell development
- positive regulation of myotube differentiation
- myoblast differentiation
- atrioventricular node development
- positive regulation of transcription of Notch receptor target
- positive regulation of transcription from RNA polymerase II promoter
- protein phosphorylation
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear speck
- MAML1-RBP-Jkappa- ICN1 complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- protein binding
- peptide antigen binding
- transcription coactivator activity