MAML1: Mastermind Like Transcriptional Coactivator 1
A key coactivator in Notch signaling, involved in development and cancer.
Gene Information Card
| Symbol | MAML1 |
|---|---|
| Full Name | Mastermind Like Transcriptional Coactivator 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q35.3 |
| NCBI Gene ID | 9794 ncbi.nlm.nih.gov/gene/9794 |
| Ensembl ID | ENSG00000113520 |
| UniProt ID | Q92585 |
| OMIM ID | 605424 |
| HGNC ID | 16256 |
| Aliases | MAM-1, Mam-1, MAM1, Mam1, Mastermind like 1 |
Description
MAML1 (Mastermind Like Transcriptional Coactivator 1) is a protein-coding gene that encodes a key transcriptional coactivator in the Notch signaling pathway. It forms a ternary complex with the Notch intracellular domain (NICD) and the DNA-binding protein CSL (RBP-Jκ) to activate transcription of Notch target genes. MAML1 is involved in cell differentiation, proliferation, and development. Dysregulation of MAML1 is implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Notch-related cancers (e.g., T-cell acute lymphoblastic leukemia, breast cancer) | MAML1 overexpression or fusion proteins (e.g., MAML1-MLL) enhance Notch signaling, driving oncogenesis. | COSMIC, ClinVar, PubMed |
| Ring chromosome 5 syndrome | Deletion or disruption of MAML1 at 5q35.3 contributes to developmental abnormalities. | OMIM, NCBI |
| Hepatocellular carcinoma | MAML1 upregulation promotes tumor growth via Notch pathway activation. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.4 | Embryonic kidney cells |
| HeLa | 9.8 | Cervical cancer cells |
| K562 | 7.1 | Leukemia cells |
| MCF7 | 6.5 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; truncation of coactivator domain |
| c.567_568insA (p.Glu190fs) | Frameshift | Rare | Loss of function; frameshift leading to premature stop |
| c.890G>A (p.Arg297Gln) | Missense | Unknown | Potential gain of function; enhanced Notch signaling |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, impairing Notch coactivation.
Gain of Function (GOF)
Missense mutations (e.g., p.Arg297Gln) that may increase transcriptional activity.
Dominant Negative (DN)
Not well characterized; truncated forms may interfere with wild-type MAML1 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Notch signaling pathway (KEGG: hsa04330)
• Signaling by NOTCH (Reactome: R-HSA-157118)
Protein Summary
MAML1 is a 1016-amino acid nuclear protein that acts as a transcriptional coactivator for Notch signaling. It contains a conserved N-terminal domain that binds NICD and CSL, and a C-terminal domain that recruits additional coactivators (e.g., p300, PCAF). The protein is essential for Notch-mediated gene expression and is implicated in cell fate decisions during development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAML1 Knockout HEK293 Cell Line | EDJ-KQ430 | Human | 9794 | Details Get a Quote |
| MAML1 Knockout A-549 Cell Line | EDJ-KQ18719 | Human | 9794 | Details Get a Quote |
| MAML1 Knockout HCT 116 Cell Line | EDJ-KQ18720 | Human | 9794 | Details Get a Quote |
| MAML1 Knockout HeLa Cell Line | EDJ-KQ18721 | Human | 9794 | Details Get a Quote |
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