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FLASH GENE

Symbol

MAL

contributors: mct - updated : 08-06-2017

HGNC name	mal, T-cell differentiation protein
HGNC id	6817

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive pharynx       highly   stomach         Lymphoid/Immune thymus       highly Nervous brain       highly Homo sapiens Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Nervous central white matter     Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous oligodendrocyte Homo sapiens Nervous Schawnn 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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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