Entity Details

Primary name SPAST
Entity type gene
Source Source Link

Details

PrimaryID6683
RefseqGeneNG_008730
SymbolSPAST
Namespastin
Chromosome2
Location2p22.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-12-16
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsSPAST_HUMAN

GO terms

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GOName
GO:0000281 mitotic cytokinesis
GO:0001578 microtubule bundle formation
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005768 endosome
GO:0005789 endoplasmic reticulum membrane
GO:0005811 lipid droplet
GO:0005813 centrosome
GO:0005819 spindle
GO:0005829 cytosol
GO:0005874 microtubule
GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport
GO:0007084 mitotic nuclear membrane reassembly
GO:0007409 axonogenesis
GO:0008017 microtubule binding
GO:0008089 anterograde axonal transport
GO:0008568 microtubule-severing ATPase activity
GO:0010458 exit from mitosis
GO:0016021 integral component of membrane
GO:0016853 isomerase activity
GO:0016887 ATP hydrolysis activity
GO:0019896 axonal transport of mitochondrion
GO:0030496 midbody
GO:0031117 positive regulation of microtubule depolymerization
GO:0031122 cytoplasmic microtubule organization
GO:0031410 cytoplasmic vesicle
GO:0031468 nuclear membrane reassembly
GO:0031965 nuclear membrane
GO:0032467 positive regulation of cytokinesis
GO:0032506 cytokinetic process
GO:0034214 protein hexamerization
GO:0043014 alpha-tubulin binding
GO:0044877 protein-containing complex binding
GO:0048471 perinuclear region of cytoplasm
GO:0048487 beta-tubulin binding
GO:0051013 microtubule severing
GO:0051228 mitotic spindle disassembly
GO:0051260 protein homooligomerization
GO:0061640 cytoskeleton-dependent cytokinesis
GO:0070062 extracellular exosome
GO:0071782 endoplasmic reticulum tubular network
GO:0090148 membrane fission
GO:1904115 axon cytoplasm

Diseases

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Disease IDSourceNameDescription
182601 OMIMSpastic paraplegia 4, autosomal dominant (SPG4)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. The disease is caused by variants affecting the gene represented in this entry.