X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 is a
protein in the
ciliary transition zone that in humans is encoded by the ''RPGRIP1''
gene.
RPGRIP1 is a
multi-domain protein containing a
coiled-coil domain
A coiled coil is a structural motif in proteins in which 2–7
alpha-helices are coiled together like the strands of a rope. (Dimers and trimers are the most common types.) Many coiled coil-type proteins are involved in important biological fu ...
at the
N-terminus
The N-terminus (also known as the amino-terminus, NH2-terminus, N-terminal end or amine-terminus) is the start of a protein or polypeptide, referring to the free amine group (-NH2) located at the end of a polypeptide. Within a peptide, the ami ...
, two
C2 domains and a
C-terminal RPGR-interacting domain (RID). Defects in the gene result in the
Leber congenital amaurosis (LCA) syndrome and in the eye disease
glaucoma.
Interactions
RPGRIP1 has been shown to
interact with
Retinitis pigmentosa GTPase regulator.
RPGRIP1 interacts with RPGR via its RPGR-interacting domain (RID), which folds into a
C2 domain architecture and interacts with RPGR at three different locations: A
β strand
The beta sheet, (β-sheet) (also β-pleated sheet) is a common motif of the regular protein secondary structure. Beta sheets consist of beta strands (β-strands) connected laterally by at least two or three backbone hydrogen bonds, forming a gen ...
of the RID interacting with the large loop of RPGR, at a
hydrophobic interaction site, and via the N-terminal region of the RID.
References
Further reading
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External links
PDBe-KBprovides an overview of all the structure information available in the PDB for Human X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 (RPGRIP1)
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