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== | |||
[[Atlastin 3D structures]] | |||
</StructureSection> | </StructureSection> | ||
==3D structures of atlastin== | ==3D structures of atlastin== | ||
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*Atlastin-1 | *Atlastin-1 | ||
**[[3q5d]], [[3q5e]], [[3qnu]], [[3qof]] – hATN cytoplasmic domain + GDP – human<br /> | **[[3q5d]], [[3q5e]], [[3qnu]], [[3qof]], [[6b9g]] – hATN cytoplasmic domain + GDP – human<br /> | ||
**[[6b9d]], [[6b9e]] – hATN cytoplasmic domain (mutant) + GDP <br /> | **[[6b9d]], [[6b9e]] – hATN cytoplasmic domain (mutant) + GDP <br /> | ||
**[[4idn]] – hATN cytoplasmic domain + GNP <br /> | **[[4idn]] – hATN cytoplasmic domain + GNP <br /> | ||