InterPro domain: IPR040115
General Information
- Identifier IPR040115
- Description Lunapark family
- Number of genes 211
- Gene duplication stats Loading...
- Associated GO terms GO:0071786
Abstract
Lunapark (Lnp) is an endoplasmic reticulum (ER)-shaping membrane protein named after its conserved L-N-P-A-R-K peptide motif. It may serve as a curvature-stabilizing protein within tubular three-way junctions of the ER [ 1 ]. Mutations in the Lnp gene has been linked to neurodevelopmental syndrome [ 2 ].
1. Lunapark stabilizes nascent three-way junctions in the endoplasmic reticulum. Proc. Natl. Acad. Sci. U.S.A. 112, 418-23
2. Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome. Am. J. Hum. Genet. 103, 296-304
Species distribution
Gene table
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