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  Domain Name: ABC_RNaseL_inhibitor
ATP-binding cassette domain of RNase L inhibitor. The ABC ATPase RNase L inhibitor (RLI) is a key enzyme in ribosomal biogenesis, formation of translation preinitiation complexes, and assembly of HIV capsids. RLI's are not transport proteins, and thus cluster with a group of soluble proteins that lack the transmembrane components commonly found in other members of the family. Structurally, RLI's have an N-terminal Fe-S domain and two nucleotide-binding domains, which are arranged to form two composite active sites in their interface cleft. RLI is one of the most conserved enzymes between archaea and eukaryotes with a sequence identity more than 48%. The high degree of evolutionary conservation suggests that RLI performs a central role in archaeal and eukaryotic physiology.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 103
Total Disease Mutations Found: 54
This domain occurred 33 times on human genes (75 proteins).



  ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, INCLUDED
  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
  GALLBLADDER DISEASE 1
  GALLBLADDER DISEASE 1, INCLUDED
  HIGH DENSITY LIPOPROTEIN DEFICIENCY
  ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A
  MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO
  PSEUDOXANTHOMA ELASTICUM
  STARGARDT DISEASE 1
  SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3
  TANGIER DISEASE
  TAP1 DEFICIENCY, SOMATIC
  VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF


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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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