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  Domain Name: ABC_Class3
ATP-binding cassette domain of the binding protein-dependent transport systems. This class is comprised of all BPD (Binding Protein Dependent) systems that are largely represented in archaea and eubacteria and are primarily involved in scavenging solutes from the environment. ABC transporters are a large family of proteins involved in the transport of a wide variety of different compounds, like sugars, ions, peptides, and more complex organic molecules. The nucleotide binding domain shows the highest similarity between all members of the family. ABC transporters are a subset of nucleotide hydrolases that contain a signature motif, Q-loop, and H-loop/switch region, in addition to, the Walker A motif/P-loop and Walker B motif commonly found in a number of ATP- and GTP-binding and hydrolyzing proteins.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 192
Total Disease Mutations Found: 109
This domain occurred 44 times on human genes (97 proteins).



  ADDISON DISEASE
  ADRENOLEUKODYSTROPHY
  ADRENOMYELONEUROPATHY
  ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, INCLUDED
  CARDIOMYOPATHY, DILATED, 1O
  CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2
  CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3
  CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2
  CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3
  CONE-ROD DYSTROPHY 3, INCLUDED
  CYSTIC FIBROSIS
  DUBIN-JOHNSON SYNDROME
  FUNDUS FLAVIMACULATUS
  GALLBLADDER DISEASE 1
  GALLBLADDER DISEASE 1, INCLUDED
  HIGH DENSITY LIPOPROTEIN DEFICIENCY
  ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A
  ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B
  JUNIOR BLOOD GROUP SYSTEM, JR(A-) PHENOTYPE
  JUNIOR BLOOD GROUP SYSTEM, JR(A-) PHENOTYPE, INCLUDED
  LANGEREIS BLOOD GROUP SYSTEM, LAN(-) PHENOTYPE
  MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO
  PSEUDOXANTHOMA ELASTICUM
  RETINAL DYSTROPHY, EARLY-ONSET SEVERE
  STARGARDT DISEASE 1
  STARGARDT DISEASE 1, INCLUDED;;
  SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3
  TANGIER DISEASE
  TAP1 DEFICIENCY, SOMATIC
  URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1
  VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF


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 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
ABC transporter signature
Walker A/P-loop
Walker B
D-loop
Q-loop/lid
H-loop/switch region














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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.

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