Atlastin: Difference between revisions
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== Disease == | == Disease == | ||
Defects in the ATN gene are a cause of the degenerative spinal cord disorder spastic paraplegia type 3 and of hereditary sensory neuropathy type 1D. | Defects in the ATN gene are a cause of the degenerative spinal cord disorder spastic paraplegia type 3 and of hereditary sensory neuropathy type 1D. Mutations in ATL-3 affect multiple ER-related pathways<ref>PMID:30666337</ref>. | ||
== Structural highlights == | == Structural highlights == | ||
*<scene name='59/590828/Cv/6'>GDP/AlF4 binding site</scene> from human atlastin (PDB code [[4ido]]).<ref name="Ad">PMID:23334294</ref> Water molecules shown as red spheres. | *<scene name='59/590828/Cv/6'>GDP/AlF4 binding site</scene> from human atlastin (PDB code [[4ido]]).<ref name="Ad">PMID:23334294</ref> Water molecules shown as red spheres. | ||
==3D structures of atlastin== | ==3D structures of atlastin== | ||
[[Atlastin 3D structures]] | |||
</StructureSection> | |||
== References == | == References == | ||
<references/> | <references/> | ||
[[Category: Topic Page]] | [[Category: Topic Page]] | ||
Latest revision as of 11:46, 25 March 2019
FunctionAtlastin (ATN) is a GTPase and a Golgi body transmembrane protein. ATN was shown to be required in membrane fusion and ER formation in Drosophila melanogaster.[1] DiseaseDefects in the ATN gene are a cause of the degenerative spinal cord disorder spastic paraplegia type 3 and of hereditary sensory neuropathy type 1D. Mutations in ATL-3 affect multiple ER-related pathways[2]. Structural highlights3D structures of atlastin
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ReferencesReferences
- ↑ 1.0 1.1 Byrnes LJ, Singh A, Szeto K, Benvin NM, O'Donnell JP, Zipfel WR, Sondermann H. Structural basis for conformational switching and GTP loading of the large G protein atlastin. EMBO J. 2013 Jan 18. doi: 10.1038/emboj.2012.353. PMID:23334294 doi:http://dx.doi.org/10.1038/emboj.2012.353
- ↑ Behrendt L, Kurth I, Kaether C. A disease causing ATLASTIN 3 mutation affects multiple endoplasmic reticulum-related pathways. Cell Mol Life Sci. 2019 Apr;76(7):1433-1445. doi: 10.1007/s00018-019-03010-x., Epub 2019 Jan 21. PMID:30666337 doi:http://dx.doi.org/10.1007/s00018-019-03010-x