MAL Gene Summary [Human]
The protein encoded by this gene is a highly hydrophobic integral membrane protein belonging to the MAL family of proteolipids. The protein has been localized to the endoplasmic reticulum of T-cells and is a candidate linker protein in T-cell signal transduction. In addition, this proteolipid is localized in compact myelin of cells in the nervous system and has been implicated in myelin biogenesis and/or function. The protein plays a role in the formation, stabilization and maintenance of glycosphingolipid-enriched membrane microdomains. Down-regulation of this gene has been associated with a variety of human epithelial malignancies. Alternative splicing produces four transcript variants which vary from each other by the presence or absence of alternatively spliced exons 2 and 3. [provided by RefSeq, May 2012]
Details
| Type | Processed Transcript |
| Official Symbol | MAL |
| Official Name | mal, T cell differentiation protein [Source:HGNC Symbol;Acc:HGNC:6817] |
| Ensembl ID | ENSG00000172005 |
| Bio databases IDs | |
| Aliases | mal, T cell differentiation protein, MyD88-adapter-like, myelin and lymphocyte protein |
| Synonyms | HLD28, MALGENE, mal, T-cell differentiation protein, Mpv17, MVP17, Myelin and lymphocyte, myelin and lymphocyte protein, T cell differentiation protein, VIP17 |
| 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 MAL often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Membrane-associating domain
- lipid binding
- structural constituent of myelin sheath
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- COVID-19
- colorectal cancer
- glioblastoma
- glioblastoma cancer
- schizophrenia
- Wilms tumor
- Wilms tumorigenesis
- primary mediastinal large B-cell lymphoma
- primary cancer
- mediastinal cancer
role in cell
- cell death
- phosphorylation in
- production in
- formation in
- formation
- differentiation
- transport
- morphology
- release
- clustering in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- myelin enriched fraction
- raft fractions
- detergent-insoluble fractions
- endosomal membrane fractions
- cell surface
- pericentrosomal region
- cell periphery
- apical compartment
- perinuclear region
- cellular membrane
- endosomes
- Golgi Apparatus
- Endoplasmic Reticulum
- microtubules
- microdomains
- apical membrane
- Golgi stacks
- gems
- myelin sheath
- Schmidt-Lanterman incisures
- cytoplasmic vesicles
- multivesicular bodies
- membrane rafts
- detergent insoluble microdomains
- filopodia
- axons
- lamellipodia
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MAL gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- central nervous system myelination
- central nervous system development
- membrane raft polarization
- apical protein localization
- apoptotic process
- cell differentiation
- myelination
- protein localization to paranode region of axon
Cellular Component
Where in the cell the gene product is active
- Schmidt-Lanterman incisure
- membrane
- membrane raft
- endoplasmic reticulum
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- apoptotic protease activator activity
- lipid binding
- structural constituent of myelin sheath