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FLASH GENE
Symbol MAL contributors: mct - updated : 08-06-2017
HGNC name mal, T-cell differentiation protein
HGNC id 6817
Location 2q11.1      Physical location : 95.691.478 - 95.719.735
Synonym name
  • myelin and lymphocyte protein
  • T-lymphocyte maturation associated protein
  • MyD88-adapter-like
  • Vesicle integral protein of 17 kDa
    • Synonym symbol(s) VIP17
    DNA
    TYPE functioning gene
    STRUCTURE 28.26 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure
  • two CpG islands (that is M1 and M2) located in MAL promoter region were completely methylated in the HNSCC cell lines
    • MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 1056 16.7 153 - 1994 8088843
  • also called MAL-isoform a
  • including exons 2 and 3
    • 3 splicing 930 12.1 111 - 1994 8088843
  • MAL-isoform b
  • including exon 2,lacking exon 3
    • 3 splicing 888 10.6 97 - 1994 8088843
  • also called MAL-isoform c
  • lacking exon 2, including exon 3
    • 2 splicing 762 6 55 - 1994 8088843
  • also called MAL-isoform d
  • lacking exons 2 and 3
    		•
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivepharynx   highly
     stomach    
    Lymphoid/Immunethymus   highly
    Nervousbrain   highly Homo sapiens
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Nervouscentralwhite matter  
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousoligodendrocyte Homo sapiens
    NervousSchawnn cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES Hydrophobic
    STRUCTURE
    motifs/domains
  • four transmembrane segments (4TM)
  • short hydrophilic segments
  • a MARVEL domain
    • HOMOLOGY
    Homologene
    FAMILY
  • MAL proteolipid family
    • CATEGORY tumor suppressor , transport
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    basic FUNCTION
  • involved in formation, stabilization and maintenance of glycosphingolipid and cholesterol-enriched membrane microdomains (raft5)
  • could be an important component in vesicular trafficking cycling between the golgi complex and the apical plasma membrane
  • could be involved in myelin biogenesis and/or myelin function
  • required in T cells for efficient expression of LCK at the plasma membrane and activation of IL2 transcription
  • required for recruitment of LCK to specialized membranes and formation of specific transport carriers for LCK targeting
  • potentially having a functional role in peripheral myelination by influencing the expression of membrane components that mediate axon-glia interaction during ensheathment and myelin wrapping
  • may be playing an important role in apical sorting or in maintaining the stability of the apical membrane
  • involvement of MAL in the activation and surface expression of SLC12A1 could play an important role in the regulated absorption of Na+ and Cl- in the kidney
  • MAL, but not MAL2, self-associates, forms higher-order cholesterol-dependent complexes with apical proteins and promotes the formation of detergent-resistant membranes that recruit apical prote
  • role for MAL in raft coalescence and stabilization
  • is involved in apical vesicle transport
  • in epithelial cells, the MAL family members MAL, MAL2, and MYADM regulate the function and dynamics of ordered membrane domains
  • is a component of lipid rafts that is important for targeting proteins and lipids to distinct domains
    • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    text
  • biogenesis myelin
  • transport between Golgi and apical membrane
    • PATHWAY
    metabolism
    signaling signal transduction
    signal transduction in T cells
    a component
  • essential component of the specialized machinery for apical targeting in epithelial cells
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with SLC12A1 (MAL increases the cell surface retention of SLC12A1 by attenuating its internalization, and this coincides with an increase in cotransporter phosphorylation)
  • BTK was involved in close contact with Tyr86 and Tyr106 of MAL whereas PKRKCD may phosphorylate Tyr106 only
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in esophageal cancer
    tumoral     --low  
    in head and neck squamous cell carcinoma
    tumoral     --low  
    most down-regulated gene in cervical cancer, by promoter methylation (by promoter methylation)
    constitutional     --over  
    is also associated with shortened or absent cilia, and cyst development
    constitutional     --over  
    leads to disturbed expression of genes that influence cytoskeletal organization and differentiation of Schwann cells
    Susceptibility
    Variant & Polymorphism SNP
    Candidate gene
    Marker
  • inactivation of MAL, as a candidate tumor suppressor gene, can contribute to human epithelial cell carcinoma and may be served as a biomarker in head and neck squamous cell carcinoma
    • Therapy target
    ANIMAL & CELL MODELS
  • overexpression of MAL/VIP17 in the kidney of transgenic mice results in cysts formation in distal nephron structures