MLXIPL Gene Summary [Human]
This gene encodes a basic helix-loop-helix leucine zipper transcription factor of the Myc/Max/Mad superfamily. This protein forms a heterodimeric complex and binds and activates, in a glucose-dependent manner, carbohydrate response element (ChoRE) motifs in the promoters of triglyceride synthesis genes. The gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | MLXIPL |
| Official Name | MLX interacting protein like [Source:HGNC Symbol;Acc:HGNC:12744] |
| Ensembl ID | ENSG00000009950 |
| Bio databases IDs | |
| Aliases | MLX interacting protein like, carbohydrate response element binding protein |
| Synonyms | bHLHd14, CHREBP, MIO, MLX, MLX interacting protein-like, MONDOB, WBSCR14, WS-bHLH |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MLXIPL often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- 14-3-3 binding domain
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- transcription regulator
- protein kinase binding
- nucleic acid binding
- basic Helix Loop Helix (bHLH) domain superfamily
- alpha helix
- nuclear localization sequence
- transcription factor binding
- protein binding
- sequence-specific DNA binding
- DNA binding
- phosphorylation site
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- NES2-NLS_ChREBP-like
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- Mondo conserved region
- double-stranded DNA binding
- helix loop helix domain
- helix-loop-helix domain
- Helix-loop-helix DNA-binding domain
- transcription factor activity
- protein heterodimerization
Pathways
Biological processes and signaling networks where the MLXIPL gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- weight loss
- hearing loss
- diabetes mellitus
- liver neoplasia
- liver cancer
- digestive system cancer
- abdominal cancer
- gout
- diarrhea
role in cell
- proliferation
- expression in
- accumulation in
- phosphorylation in
- glycolysis in
- lipogenesis in
- activation in
- cell death
- G1 phase
- quantity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- cytosol
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MLXIPL gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of oxidative phosphorylation
- positive regulation of cell proliferation
- fatty acid homeostasis
- lipid biosynthetic process
- regulation of transcription, DNA-dependent
- anatomical structure morphogenesis
- positive regulation of transcription from RNA polymerase II promoter
- positive regulation of transcription from RNA polymerase II promoter by glucose
- positive regulation of glycolysis
- regulation of transcription from RNA polymerase II promoter
- positive regulation of fatty acid biosynthetic process
- positive regulation of lipid biosynthetic process
- negative regulation of transcription from RNA polymerase II promoter
- negative regulation of transcription, DNA-dependent
- positive regulation of transcription, DNA-dependent
- glucose homeostasis
- negative regulation of peptidyl-serine phosphorylation
- energy homeostasis
- glucose mediated signaling pathway
- triglyceride homeostasis
Cellular Component
Where in the cell the gene product is active
- transcription factor complex
- nucleus
- cytoplasm
- cytosol
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- sequence-specific DNA binding transcription factor activity
- protein homodimerization activity
- protein heterodimerization activity
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- carbohydrate response element binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in positive regulation of transcription
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity