National and Kapodistrian University of Athens
Department of Biology
Biophysics & Bioinformatics Laboratory
Protein Information |
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|---|---|
| Protein Name | Spastin |
| Accession Code | A2VDN5 |
| Gene | SPAST |
| Organism | Bos taurus | Cattle (Taxonomy: 9913) |
| Part of Reference Proteome? | Yes |
| Sequence (Length: 614) |
Description |
Position in the Nuclear Envelope |
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|---|---|---|
| Location | Location ID | Description |
| Perinuclear Region | SL-0198 | The perinuclear region is the cytoplasmic region just around the nucleus. | Membrane Topology |
| Topology | Source | Annotation Type |
| Peripheral | UniProt | Sequence Analysis {ECO:0000255|HAMAP-Rule:MF_03021} | Assigned Ontology terms |
Description |
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|---|---|
| ATP-dependent microtubule severing protein that specifically recognizes and cuts microtubules that are polyglutamylated. Preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold. Severing activity is not dependent on tubulin acetylation or detyrosination. Microtubule severing promotes reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. It is critical for the biogenesis and maintenance of complex microtubule arrays in axons, spindles and cilia. SPAST is involved in abscission step of cytokinesis and nuclear envelope reassembly during anaphase in cooperation with the ESCRT-III complex. Recruited at the midbody, probably by IST1, and participates in membrane fission during abscission together with the ESCRT-III complex. Recruited to the nuclear membrane by IST1 and mediates microtubule severing, promoting nuclear envelope sealing and mitotic spindle disassembly during late anaphase. Required for membrane traffic from the endoplasmic reticulum (ER) to the Golgi and endosome recycling. Recruited by IST1 to endosomes and regulates early endosomal tubulation and recycling by mediating microtubule severing. Probably plays a role in axon growth and the formation of axonal branches. {Sequence AnalysisHAMAP- Rule:MF_03021}. | Assigned Ontology terms |
Description |
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|---|---|
| Note=Defects in SPAST are the cause of bovine spinal dysmyelination (BSD), a neurodegenerative disorder characterized by pathological changes of the myelin sheaths in the spinal cord. Defects appear immediately at birth and include lateral recumbency with slight to moderate opisthotonos, body tremor, and spastic extension of the limbs. General muscle atrophy due to denervation occurs to variable degrees and is most obvious in the hind limbs. BSD is a longstanding problem in the American Brown Swiss (ABS) breed and in several European cattle breeds upgraded with ABS. The morphological cause of the phenotype is bilateral symmetrical hypo- and demyelination of axons in the cervical and thoracic segments of the spinal cord. The disease is caused by variants affecting the gene represented in this entry. {Experimental EvidencePubMed:19714378}. | Database Associations |
| OMIM | |
| DisGeNET | |
National and Kapodistrian University of Athens
Department of Biology
Biophysics & Bioinformatics Laboratory