MLXIP (MLX Interacting Protein)
Transcription factor involved in glucose and lipid metabolism, cell growth, and cancer
Gene Information Card
| Symbol | MLXIP |
|---|---|
| Full Name | MLX interacting protein |
| Gene Type | protein-coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 22885 ncbi.nlm.nih.gov/gene/22885 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q9NP71 |
| OMIM ID | 610943 |
| HGNC ID | 17055 |
| Aliases | MondoA, bHLHd11, MONDOA, WBSCR14 |
Description
MLXIP (MLX interacting protein), also known as MondoA, is a basic helix-loop-helix leucine zipper transcription factor that forms heterodimers with MLX. It functions as a glucose-responsive sensor, regulating genes involved in glucose uptake, glycolysis, and lipid synthesis. MLXIP plays a role in cellular energy homeostasis, cell proliferation, and is implicated in cancer and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of MLXIP promotes glycolysis and lipogenesis, supporting tumor growth | COSMIC, literature |
| Metabolic syndrome | Altered MLXIP activity affects glucose and lipid metabolism | OMIM, literature |
| Williams-Beuren syndrome | MLXIP is located in the critical region; haploinsufficiency may contribute to metabolic features | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Adipose tissue | 9.8 | Medium |
| Skeletal muscle | 7.5 | Low |
| Pancreas | 6.2 | Low |
| Brain | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| MCF7 | 11.4 | Breast cancer cell line |
| A549 | 9.7 | Lung carcinoma cell line |
| HEK293 | 8.3 | Embryonic kidney cells |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.1% | Unknown functional effect |
| c.567_568insA (p.Gln190Thrfs*12) | Frameshift | <0.1% | Predicted loss of function |
| c.890G>A (p.Arg297Gln) | Missense | <0.1% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Gln190Thrfs*12) are predicted to cause loss of function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Carbohydrate-responsive element binding protein (ChREBP) pathway
• Glycolysis and gluconeogenesis
• Insulin signaling pathway
• mTOR signaling pathway
• Lipid biosynthesis
Protein Summary
MLXIP (MondoA) is a 919-amino acid transcription factor that contains a basic helix-loop-helix leucine zipper (bHLHZip) domain. It heterodimerizes with MLX to bind E-box sequences on DNA. Under high glucose conditions, MLXIP translocates to the nucleus and activates genes involved in glycolysis (e.g., PKM, LDHA) and lipogenesis (e.g., FASN, ACLY). It also interacts with the cytosolic glucose sensor and is regulated by O-GlcNAcylation and phosphorylation. MLXIP is overexpressed in several cancers and contributes to the Warburg effect.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MLXIPL Knockout HEK293 Cell Line | EDJ-KQ2291 | Human | 51085 | Details Get a Quote |
| MLXIP Knockout HEK293 Cell Line | EDJ-KQ7711 | Human | 22877 | Details Get a Quote |
| MLXIP Knockout A-549 Cell Line | EDJ-KQ33106 | Human | 22877 | Details Get a Quote |
| MLXIP Knockout HeLa Cell Line | EDJ-KQ33108 | Human | 22877 | Details Get a Quote |
| MLXIPL Knockout A-549 Cell Line | EDJ-KQ22647 | Human | 51085 | Details Get a Quote |
| MLXIPL Knockout HCT 116 Cell Line | EDJ-KQ22648 | Human | 51085 | Details Get a Quote |
| MLXIPL Knockout HeLa Cell Line | EDJ-KQ22649 | Human | 51085 | Details Get a Quote |
| MLXIP Knockout HCT 116 Cell Line | EDJ-KQ31780 | Human | 22877 | Details Get a Quote |
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