Gene Information | |
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Gene Name | FSP2 |
Organism | Homo sapiens (Human) |
Gene Length | 616 |
Protein Names | Spastin (EC 5.6.1.1) (Spastic paraplegia 4 protein) |
Target Name | NA |
Target Type | NA |
Gene Age | NA |
Evolutionary Stage | NA |
AlphaFoldDB | Q9UBP0 |
Gene Card | SPAST |
Uniprot ID | Q9UBP0 |
Pfam | PF00004; PF17862; PF09336 |
In ASD | yes |
Allosteric Prediction | NA |
Ortholog in Animals | NA |
Ohnologs | NA |
Paralogs | NA |
Tissue | NA |
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:0000269|PubMed:10610178}. |
Pharmacological Animal Models | NA |
Gene Ontology (biological process) |
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Gene Ontology (cellular component) |
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Gene Ontology (molecular function) |
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PDB | 3EAB (X-ray 2.50A ) 3VFD (X-ray 3.30A ) 5Z6Q (X-ray 3.00A ) 5Z6R (X-ray 3.00A ) 6PEK (EM 4.20A ) 6PEN (EM 4.20A ) |
DBSNP | rs121908515 rs121908517 rs1343258361 rs372005558 rs141944844 rs1553400016 rs1553311831 rs1182763020 rs773193617 rs202152835 rs1553315215 rs121908513 rs1553315329 rs1057519181 rs1553315347 rs1553315352 rs121908509 rs1553315355 rs1553315355 rs1553315356 rs1553316807 rs1553316816 rs1553316816 rs1553316819 rs1553316822 rs1553316826 rs1553316834 rs121908514 rs1553316837 rs1131691977 rs797044850 rs1553316845 rs1553317025 rs1553317038 rs587777757 rs1553317041 rs1064793273 rs1679266894 rs1553317045 rs1679543653 rs1553318168 rs1553318169 rs1060502227 rs1060502227 rs1553318182 rs1553318184 rs121908512 rs1131691838 rs121908510 rs1553318224 rs1553318230 rs1036039694 rs1553318238 rs878854990 rs1553318241 rs878854990 rs1553318242 rs1553318248 rs1553318251 rs121908516 rs1553318261 rs1553318315 rs536599683 rs1553318331 rs1553318337 rs1553318342 rs121908511 rs878854991 rs1553319087 rs864622162 rs1553319093 rs1553319286 rs1553319317 rs1553319314 rs1553319537 rs1553319548 rs1553319546 rs864622179 rs878854992 rs121908518 rs863224923 rs144594804 rs1553321202 rs1553321245 rs1553321266 rs1573186691 rs765941217 |
Subcellular location [CC] | Membrane {ECO:0000255|HAMAP-Rule:MF_03021, ECO:0000269|PubMed:19000169}; Peripheral membrane protein {ECO:0000255|HAMAP-Rule:MF_03021, ECO:0000305|PubMed:20200447}. Endoplasmic reticulum {ECO:0000255|HAMAP-Rule:MF_03021, ECO:0000269|PubMed:16602018}. Midbody {ECO:0000255|HAMAP-Rule:MF_03021, ECO:0000269|PubMed:18997780, ECO:0000269|PubMed:21310966, ECO:0000269|PubMed:25390646}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000255|HAMAP-Rule:MF_03021, ECO:0000269|PubMed:15269182, ECO:0000269|PubMed:15891913, ECO:0000269|PubMed:25390646}. Cytoplasm, cytoskeleton {ECO:0000255|HAMAP-Rule:MF_03021, ECO:0000269|PubMed:15716377, ECO:0000269|PubMed:17389232, ECO:0000269|PubMed:18410514, ECO:0000269|PubMed:19000169, ECO:0000269|PubMed:20200447}. Cytoplasm, perinuclear region {ECO:0000255|HAMAP-Rule:MF_03021, ECO:0000269|PubMed:11809724, ECO:0000269|PubMed:15147984, ECO:0000269|PubMed:15269182, ECO:0000269|PubMed:15537668}. Nucleus {ECO:0000255|HAMAP-Rule:MF_03021, ECO:0000269|PubMed:15147984, ECO:0000269|PubMed:15269182, ECO:0000269|PubMed:16026783}. Cytoplasm, cytoskeleton, spindle {ECO:0000255|HAMAP-Rule:MF_03021, ECO:0000269|PubMed:15269182}. Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03021, ECO:0000269|PubMed:16026783, ECO:0000269|PubMed:20200447}. Cell projection, axon {ECO:0000269|PubMed:15269182}. Note=Forms an intramembrane hairpin-like structure in the membrane (PubMed:20200447). Localization to the centrosome is independent of microtubules (PubMed:15891913). Localizes to the midbody of dividing cells, and this requires CHMP1B (PubMed:18997780). Enriched in the distal axons and branches of postmitotic neurons (PubMed:15269182). Mainly nuclear in interphase cells and becomes associated with the centrosomes, spindle microtubules, midzone and finally the midbody during cell division (PubMed:15269182). {ECO:0000255|HAMAP-Rule:MF_03021, ECO:0000269|PubMed:15269182, ECO:0000269|PubMed:15891913, ECO:0000269|PubMed:18997780, ECO:0000305|PubMed:20200447}.; [Isoform 1]: Endoplasmic reticulum membrane {ECO:0000269|PubMed:19000169, ECO:0000269|PubMed:23969831}; Peripheral membrane protein {ECO:0000305|PubMed:20200447}. Nucleus membrane {ECO:0000269|PubMed:26040712}. Lipid droplet {ECO:0000269|PubMed:25875445}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:19000169, ECO:0000269|PubMed:20200447}. Endosome {ECO:0000269|PubMed:23897888}. Note=Forms an intramembrane hairpin-like structure in the membrane (PubMed:20200447). Recruited to nuclear membrane by IST1 during late anaphase (PubMed:26040712). Localizes to endoplasmic reticulum tubular network (PubMed:23969831). {ECO:0000269|PubMed:23969831, ECO:0000269|PubMed:26040712, ECO:0000305|PubMed:20200447}.; [Isoform 3]: Cytoplasm {ECO:0000269|PubMed:20200447, ECO:0000269|PubMed:23969831}. Endosome {ECO:0000269|PubMed:19000169, ECO:0000269|PubMed:23897888}. Nucleus membrane {ECO:0000269|PubMed:16026783, ECO:0000269|PubMed:26040712}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:25390646}. Note=Constitutes the main endosomal form (PubMed:19000169). Recruited to nuclear membrane by IST1 during late anaphase (PubMed:26040712). {ECO:0000269|PubMed:19000169, ECO:0000269|PubMed:26040712}. |
Mouse PG classification | NA |
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