3q5d: Difference between revisions

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[[Image:3q5d.png|left|200px]]
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{{STRUCTURE_3q5d|  PDB=3q5d  |  SCENE=  }}  
{{STRUCTURE_3q5d|  PDB=3q5d  |  SCENE=  }}  
===crystal structure of human Atlastin-1 (residues 1-447) bound to GDP, crystal form 1===
===crystal structure of human Atlastin-1 (residues 1-447) bound to GDP, crystal form 1===
{{ABSTRACT_PUBMED_21220294}}


==Disease==
[[http://www.uniprot.org/uniprot/ATLA1_HUMAN ATLA1_HUMAN]] Hereditary sensory and autonomic neuropathy type 1;Autosomal dominant spastic paraplegia type 3. Spastic paraplegia autosomal dominant 3 (SPG3) [MIM:[http://omim.org/entry/182600 182600]]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:17321752</ref> <ref>PMID:11685207</ref> <ref>PMID:12112092</ref> <ref>PMID:12939451</ref> <ref>PMID:14695538</ref> <ref>PMID:15184642</ref> <ref>PMID:16533974</ref> <ref>PMID:17427918</ref> <ref>PMID:20932283</ref> <ref>PMID:20718791</ref>  Hereditary sensory neuropathy 1D (HSN1D) [MIM:[http://omim.org/entry/613708 613708]]: A disease characterized by adult-onset distal axonal sensory neuropathy leading to mutilating ulcerations as well as hyporeflexia. Some patients may show features suggesting upper neuron involvement. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:21194679</ref> 


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==Function==
The line below this paragraph, {{ABSTRACT_PUBMED_21220294}}, adds the Publication Abstract to the page
[[http://www.uniprot.org/uniprot/ATLA1_HUMAN ATLA1_HUMAN]] GTPase tethering membranes through formation of trans-homooligomer and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis. May also regulate Golgi biogenesis. May regulate axonal development.<ref>PMID:14506257</ref> <ref>PMID:17321752</ref> <ref>PMID:18270207</ref> <ref>PMID:19665976</ref>
(as it appears on PubMed at http://www.pubmed.gov), where 21220294 is the PubMed ID number.
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{{ABSTRACT_PUBMED_21220294}}


==About this Structure==
==About this Structure==
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==Reference==
==Reference==
<ref group="xtra">PMID:21220294</ref><references group="xtra"/>
<ref group="xtra">PMID:021220294</ref><references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Byrnes, L J.]]
[[Category: Byrnes, L J.]]
[[Category: Sondermann, H.]]
[[Category: Sondermann, H.]]
[[Category: G protein]]
[[Category: Gdp/gtp binding]]
[[Category: Gtpase]]
[[Category: Hydrolase]]
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