SPAST
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3EAB, 3VFD
Identifiers
Aliases	SPAST, ADPSP, FSP2, SPG4, spastin
External IDs	OMIM: 604277 MGI: 1858896 HomoloGene: 8970 GeneCards: SPAST
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p22.3 Start 32,063,556 bp[1] End 32,157,637 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17|17 E2 Start 74,645,982 bp[2] End 74,698,110 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in oocyte secondary oocyte ganglionic eminence Achilles tendon palpebral conjunctiva germinal epithelium endothelial cell tibia amniotic fluid monocyte Top expressed in secondary oocyte barrel cortex medullary collecting duct medial ganglionic eminence trigeminal ganglion sexually immature organism superior cervical ganglion spermatocyte vastus lateralis muscle triceps brachii muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding alpha-tubulin binding microtubule-severing ATPase activity protein binding catalytic activity hydrolase activity ATP binding beta-tubulin binding microtubule binding isomerase activity ATPase activity protein-containing complex binding Cellular component cytoplasm endosome membrane microtubule cytoskeleton spindle microtubule organizing center midbody endoplasmic reticulum perinuclear region of cytoplasm microtubule extracellular exosome cytoplasmic vesicle nucleus cytoskeleton axon cytoplasm nuclear membrane lipid droplet endoplasmic reticulum membrane nucleoplasm cytosol endoplasmic reticulum tubular network ESCRT III complex centrosome integral component of membrane Biological process cell differentiation nervous system development positive regulation of cytokinesis multicellular organism development cell division microtubule bundle formation cell cycle metabolism protein homooligomerization nuclear membrane reassembly exit from mitosis mitotic cytokinesis cytoplasmic microtubule organization microtubule severing anterograde axonal transport mitotic spindle disassembly axonal transport of mitochondrion membrane fission endoplasmic reticulum to Golgi vesicle-mediated transport protein hexamerization cytokinetic process axonogenesis positive regulation of microtubule depolymerization cytoskeleton-dependent cytokinesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6683 50850 Ensembl ENSG00000021574 ENSMUSG00000024068 UniProt Q9UBP0 Q9QYY8 RefSeq (mRNA) NM_014946 NM_199436 NM_001363823 NM_001363875 NM_001377959 NM_001162870 NM_016962 NM_001357738 RefSeq (protein) NP_055761 NP_955468 NP_001350752 NP_001350804 NP_001364888 NP_001156342 NP_058658 NP_001344667 Location (UCSC) Chr 2: 32.06 – 32.16 Mb Chr 17: 74.65 – 74.7 Mb PubMed search [3] [4]
Wikidata
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The human gene SPAST codes for the microtubule-severing protein of the same name, commonly known as spastin.^[5]

This gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. The encoded ATPase may be involved in the assembly or function of nuclear protein complexes. Two transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their full length sequences have not been determined. Mutations associated with this gene cause the most frequent form of autosomal dominant spastic paraplegia 4 (SPG4).^[6]