MXD1 Gene - MAX Dimerization Protein 1
A key regulator of MYC transcriptional activity and cell proliferation
Gene Information Card
| Symbol | MXD1 |
|---|---|
| Full Name | MAX Dimerization Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p13.3 |
| NCBI Gene ID | 4084 ncbi.nlm.nih.gov/gene/4084 |
| Ensembl ID | ENSG00000115977 |
| UniProt ID | Q05195 |
| OMIM ID | 600021 |
| HGNC ID | 6761 |
| Aliases | MAD, MAD1, MXD1, bHLHc11 |
Description
MXD1 (MAX Dimerization Protein 1) encodes a basic helix-loop-helix leucine zipper (bHLHZ) transcription factor that heterodimerizes with MAX to repress transcription of MYC target genes. It functions as a tumor suppressor by antagonizing MYC-driven cell proliferation and promoting differentiation. MXD1 expression is often downregulated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | MXD1 downregulation relieves MYC repression, promoting leukemogenesis | PMID: 15692053 |
| Colorectal cancer | Loss of MXD1 expression correlates with MYC activation and poor prognosis | PMID: 19029980 |
| Breast cancer | MXD1 promoter methylation silences expression, enhancing MYC activity | PMID: 21573174 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Bone marrow | 8.9 | Medium |
| Brain | 3.1 | Low |
| Heart | 2.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | Embryonic kidney cells |
| K562 | 9.8 | Chronic myeloid leukemia |
| MCF7 | 4.2 | Breast cancer |
| HepG2 | 6.7 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.1% | p.Met1Val; potential loss of start codon |
| c.214C>T | Nonsense | <0.1% | p.Gln72*; premature truncation |
| c.458_459del | Frameshift | <0.1% | p.Glu153Glyfs*5; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in MXD1 are predicted to cause loss of repressor function, leading to unchecked MYC activity.
Gain of Function (GOF)
No gain-of-function mutations reported in MXD1.
Dominant Negative (DN)
Missense mutations in the bHLH domain may disrupt dimerization with MAX, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
Pathways
• MYC transcriptional repression by MXD1:MAX complexes
• PI3K/AKT signaling (indirect regulation)
• Cell cycle G1/S transition (negative regulation)
Protein Summary
MXD1 (MAD1) is a 221-amino-acid protein containing a bHLHZ domain that mediates heterodimerization with MAX. The MXD1:MAX complex binds E-box sequences to repress MYC target genes involved in cell cycle progression, metabolism, and apoptosis. MXD1 is induced during differentiation and acts as a key antagonist of MYC oncogenic activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MXD1 Knockout HeLa Cell Line | EDJ-KQ28140 | Human | 4084 | Details Get a Quote |
| MXD1 Knockout HCT 116 Cell Line | EDJ-KQ28139 | Human | 4084 | Details Get a Quote |
| MXD1 Knockout A-549 Cell Line | EDJ-KQ28138 | Human | 4084 | Details Get a Quote |
| MXD1 Knockout HEK293 Cell Line | EDJ-KQ5158 | Human | 4084 | Details Get a Quote |
