Home News About DMDM Database Statistics Research Publications Contact  

 
  Domain Name: AAT_I
Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the substrate in four kinds of reactions (1) transamination (movement of amino groups), (2) racemization (redistribution of enantiomers), (3) decarboxylation (removing COOH groups), and (4) various side-chain reactions depending on the enzyme involved. Pyridoxal phosphate (PLP) dependent enzymes were previously classified into alpha, beta and gamma classes, based on the chemical characteristics (carbon atom involved) of the reaction they catalyzed. The availability of several structures allowed a comprehensive analysis of the evolutionary classification of PLP dependent enzymes, and it was found that the functional classification did not always agree with the evolutionary history of these enzymes. Structure and sequence analysis has revealed that the PLP dependent enzymes can be classified into four major groups of different evolutionary origin: aspartate aminotransferase superfamily (fold type I), tryptophan synthase beta superfamily (fold type II), alanine racemase superfamily (fold type III), and D-amino acid superfamily (fold type IV) and Glycogen phophorylase family (fold type V).
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 77
Total Disease Mutations Found: 59
This domain occurred 20 times on human genes (43 proteins).



  ANEMIA, HEREDITARY SIDEROBLASTIC
  ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET
  AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
  GABA-TRANSAMINASE DEFICIENCY
  GILLES DE LA TOURETTE SYNDROME
  GLYCINE ENCEPHALOPATHY
  GYRATE ATROPHY OF CHOROID AND RETINA
  GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA
  HYPEROXALURIA, PRIMARY, TYPE I
  NEUROPATHY, HEREDITARY SENSORY, TYPE IC
  PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY


Tips:
 If you've navigated here from a protein, hovering over a position on the weblogo will display the corresponding protein position for that domain position.

 The histograms below the weblogo indicate mutations found on the domain. Red is for disease (OMIM) and blue is for SNPs.

 Functional Features are displayed as orange boxes under the histograms. You can choose which features are displayed in the box below.



Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
catalytic residue
pyridoxal 5'-phosphate bi














Weblogos are Copyright (c) 2002 Regents of the University of California




Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258