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  Domain Name: ABC_RNaseL_inhibitor
The ATP-binding cassette domain 1 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, RLIs 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: 50
Total Disease Mutations Found: 17
This domain occurred 24 times on human genes (57 proteins).



  CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3
  CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3
  CONE-ROD DYSTROPHY 3, INCLUDED
  FUNDUS FLAVIMACULATUS
  GALLBLADDER DISEASE 1
  GALLBLADDER DISEASE 1, INCLUDED
  ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B
  LANGEREIS BLOOD GROUP SYSTEM, LAN(-) PHENOTYPE
  MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO
  MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
  RETINAL DYSTROPHY, EARLY-ONSET SEVERE
  STARGARDT DISEASE 1
  STARGARDT DISEASE 1, INCLUDED;;
  TAP1 DEFICIENCY, SOMATIC


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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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