Home News About DMDM Database Statistics Research Publications Contact  

 
Click for a Larger Image
  Domain Name: AAA
The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, RecA-like, VirD4-like, PilT-like, and SF1/2 helicases. Members of the AAA+ ATPases function as molecular chaperons, ATPase subunits of proteases, helicases, or nucleic-acid stimulated ATPases. The AAA+ proteins contain several distinct features in addition to the conserved alpha-beta-alpha core domain structure and the Walker A and B motifs of the P-loop NTPases.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 31
Total Disease Mutations Found: 18
This domain occurred 46 times on human genes (75 proteins).



  AMYOTROPHIC LATERAL SCLEROSIS 14 WITHOUT FRONTOTEMPORAL DEMENTIA
  DEMENTIA
  INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL
  MEIER-GORLIN SYNDROME 1
  MEIER-GORLIN SYNDROME 2
  MEIER-GORLIN SYNDROME 5
  MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
  PEROXISOME BIOGENESIS DISORDER 4B
  SPASTIC PARAPLEGIA 4
  SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
  SPINOCEREBELLAR ATAXIA 28


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:
ATP binding site
Walker A motif
Walker B motif
arginine finger





















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