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.

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 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
Displaying Records 1 To 8 Of 8 Records
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