InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SPAST

Summary

InnateDB Protein

IDBP-43193.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SPAST

Protein Name

spastin

Synonyms

ADPSP; FSP2; SPG4;

Species

Homo sapiens

Ensembl Protein

ENSP00000320885

InnateDB Gene

IDBG-43191 (SPAST)

Protein Structure

UniProt Annotation

Function

ATP-dependent microtubule severing protein. Microtubule severing may promote reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. Required for membrane traffic from the endoplasmic reticulum (ER) to the Golgi and for completion of the abscission stage of cytokinesis. May also play a role in axon growth and the formation of axonal branches. {ECO:0000269PubMed:11809724, ECO:0000269PubMed:15716377, ECO:0000269PubMed:16219033, ECO:0000269PubMed:17389232, ECO:0000269PubMed:19000169, ECO:0000269PubMed:22637577}.

Subcellular Localization

Membrane {ECO:0000255HAMAP-Rule:MF_03021}; Single-pass membrane protein {ECO:0000255HAMAP-Rule:MF_03021}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton. Cytoplasm, perinuclear region. Endoplasmic reticulum. Endosome. Nucleus. Cytoplasm, cytoskeleton, spindle. Note=Localization to the centrosome is independent of microtubules. Localizes to the midbody of dividing cells, and this requires CHMP1B. Enriched in the distal axons and branches of postmitotic neurons. Isoform 3 is the main endosomal form.

Disease Associations

Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]: 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. {ECO:0000269PubMed:10610178, ECO:0000269PubMed:10699187, ECO:0000269PubMed:11015453, ECO:0000269PubMed:11039577, ECO:0000269PubMed:11087788, ECO:0000269PubMed:11309678, ECO:0000269PubMed:11843700, ECO:0000269PubMed:11985387, ECO:0000269PubMed:12124993, ECO:0000269PubMed:12161613, ECO:0000269PubMed:12163196, ECO:0000269PubMed:12202986, ECO:0000269PubMed:12460147, ECO:0000269PubMed:12552568, ECO:0000269PubMed:12939659, ECO:0000269PubMed:14732620, ECO:0000269PubMed:15159500, ECO:0000269PubMed:15210521, ECO:0000269PubMed:15248095, ECO:0000269PubMed:15326248, ECO:0000269PubMed:15482961, ECO:0000269PubMed:16682546, ECO:0000269PubMed:16684598, ECO:0000269PubMed:17594340, ECO:0000269PubMed:20214791, ECO:0000269PubMed:20550563, ECO:0000269PubMed:20562464, ECO:0000269PubMed:20718791, ECO:0000269PubMed:20932283}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in brain, heart, kidney, liver, lung, pancreas, placenta and skeletal muscle. The short isoforms may predominate in brain and spinal cord. {ECO:0000269PubMed:10610178}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.

Experimentally validated
Total	10 [view]
Protein-Protein	7 [view]
Protein-DNA	2 [view]
Protein-RNA	1 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0008017	microtubule binding
GO:0008568	microtubule-severing ATPase activity
GO:0009378	four-way junction helicase activity
GO:0043014	alpha-tubulin binding
GO:0048487	beta-tubulin binding

Biological Process

GO:0001578	microtubule bundle formation
GO:0006200	ATP catabolic process
GO:0006281	DNA repair
GO:0006310	DNA recombination
GO:0006888	ER to Golgi vesicle-mediated transport
GO:0007109	cytokinesis, completion of separation
GO:0007409	axonogenesis
GO:0008219	cell death
GO:0031117	positive regulation of microtubule depolymerization
GO:0034214	protein hexamerization
GO:0051013	microtubule severing
GO:0051260	protein homooligomerization

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005768	endosome
GO:0005783	endoplasmic reticulum
GO:0005813	centrosome
GO:0005819	spindle
GO:0005874	microtubule
GO:0015630	microtubule cytoskeleton
GO:0016021	integral component of membrane
GO:0030496	midbody
GO:0031410	cytoplasmic vesicle
GO:0048471	perinuclear region of cytoplasm
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR003593 AAA+ ATPase domain
IPR003959 ATPase, AAA-type, core
IPR007330 MIT
IPR008824 DNA helicase, Holliday junction RuvB type, N-terminal
IPR017179 Spastin
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00004
PF07724
PF13304
PF04212
PF05496

PRINTS

PIRSF

PIRSF037338

SMART

SM00382
SM00745

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt