MAML3 Gene - Mastermind Like Transcriptional Coactivator 3
Key regulator of Notch signaling and transcriptional activation
Gene Information Card
| Symbol | MAML3 |
|---|---|
| Full Name | Mastermind Like Transcriptional Coactivator 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q28.2 |
| NCBI Gene ID | 55534 ncbi.nlm.nih.gov/gene/55534 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q96JK9 |
| OMIM ID | 610017 |
| HGNC ID | 16280 |
| Aliases | MAM-3, MAM3, CBP/coactivator, MAML3 |
Description
MAML3 (Mastermind Like Transcriptional Coactivator 3) is a protein-coding gene that functions as a transcriptional coactivator in the Notch signaling pathway. It interacts with Notch receptors and CSL transcription factors to activate target genes involved in cell differentiation, proliferation, and development. MAML3 is part of the mastermind-like family and is implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of Notch signaling via MAML3 overexpression or mutation | COSMIC, ClinVar |
| Notch-related developmental disorders | Altered transcriptional coactivation affecting cell fate decisions | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.5 | Medium |
| Heart | 6.2 | Low |
| Liver | 4.1 | Low |
| Lung | 7.8 | Medium |
| Kidney | 5.3 | Low |
| Testis | 12.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.4 | Embryonic kidney cells |
| HeLa | 7.1 | Cervical cancer cells |
| K562 | 5.8 | 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 | Missense | 0.5% | p.Pro412Ser; potential loss of function |
| c.567_568insA | Frameshift | 0.1% | Truncation; loss of coactivator activity |
| c.890G>A | Nonsense | 0.2% | p.Trp297*; premature stop |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein, impairing Notch coactivation.
Gain of Function (GOF)
Missense mutations that enhance binding to Notch/CSL, leading to hyperactivation.
Dominant Negative (DN)
Truncated forms that compete with wild-type MAML3, blocking Notch signaling.
View complete mutation data：
Gene Ontology (GO)
| • transcription coactivator activity (GO:0003712) | • nucleus (GO:0005634) |
| • Notch signaling pathway (GO:0007219) | • positive regulation of transcription by RNA polymerase II (GO:0045944) |
Pathways
• Notch signaling pathway (KEGG: hsa04330)
• Transcriptional misregulation in cancer (KEGG: hsa05202)
Protein Summary
MAML3 is a 1136-amino acid nuclear protein that acts as a transcriptional coactivator for Notch signaling. It contains a basic domain for DNA binding and a C-terminal transactivation domain. MAML3 forms a ternary complex with Notch intracellular domain (NICD) and CSL (RBP-Jκ) to activate transcription of target genes such as HES and HEY. Its expression is highest in testis and brain, and mutations are linked to cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAML3 Knockout HEK293 Cell Line | EDJ-KQ14186 | Human | 55534 | Details Get a Quote |
| MAML3 Knockout A-549 Cell Line | EDJ-KQ44125 | Human | 55534 | Details Get a Quote |
| MAML3 Knockout HeLa Cell Line | EDJ-KQ44126 | Human | 55534 | Details Get a Quote |
| MAML3 Knockout HCT 116 Cell Line | EDJ-KQ73544 | Human | 55534 | Details Get a Quote |
