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  Domain Name: MFS
The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of substrates including ions, sugar phosphates, drugs, neurotransmitters, nucleosides, amino acids, and peptides. They do so using the electrochemical potential of the transported substrates. Uniporters transport a single substrate, while symporters and antiporters transport two substrates in the same or in opposite directions, respectively, across membranes. MFS proteins are typically 400 to 600 amino acids in length, and the majority contain 12 transmembrane alpha helices (TMs) connected by hydrophilic loops. The N- and C-terminal halves of these proteins display weak similarity and may be the result of a gene duplication/fusion event. Based on kinetic studies and the structures of a few bacterial superfamily members, GlpT (glycerol-3-phosphate transporter), LacY (lactose permease), and EmrD (multidrug transporter), MFS proteins are thought to function through a single substrate binding site, alternating-access mechanism involving a rocker-switch type of movement. Bacterial members function primarily for nutrient uptake, and as drug-efflux pumps to confer antibiotic resistance. Some MFS proteins have medical significance in humans such as the glucose transporter Glut4, which is impaired in type II diabetes, and glucose-6-phosphate transporter (G6PT), which causes glycogen storage disease when mutated.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 246
Total Disease Mutations Found: 96
This domain occurred 105 times on human genes (183 proteins).



  ALLAN-HERNDON-DUDLEY SYNDROME
  CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
  CEROID LIPOFUSCINOSIS, NEURONAL, 7
  DEAFNESS, AUTOSOMAL DOMINANT 25
  DIABETES MELLITUS, NONINSULIN-DEPENDENT
  ERYTHROCYTE LACTATE TRANSPORTER DEFECT
  FANCONI-BICKEL SYNDROME
  FOLATE MALABSORPTION, HEREDITARY
  GLYCOGEN STORAGE DISEASE IB
  GLYCOGEN STORAGE DISEASE IC
  HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC
  HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2
  HYPOURICEMIA, RENAL, 1
  HYPOURICEMIA, RENAL, 2
  INFANTILE SIALIC ACID STORAGE DISORDER
  OCULOCUTANEOUS ALBINISM, TYPE IV
  POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
  PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME
  SALLA DISEASE
  SKIN/HAIR/E
  SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
  SKIN/HAIR/EYE PIGMENTATION 5, DARK/FAIR SKIN, INCLUDED;;
  THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE
  THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME
  TYPE)
  VARIANT OF UNKNOWN SIGNIFICANCE


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
putative substrate transl