Details for: SPAST

Gene ID: 6683

Symbol: SPAST

Ensembl ID: ENSG00000021574

Description: spastin

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 212.6070
    Cell Significance Index: -33.0700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 131.2078
    Cell Significance Index: -33.2800
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 86.9771
    Cell Significance Index: -35.8300
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 73.6461
    Cell Significance Index: -34.7700
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 68.4296
    Cell Significance Index: -27.8000
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 61.1895
    Cell Significance Index: -31.4800
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 29.2068
    Cell Significance Index: -27.8900
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 27.5598
    Cell Significance Index: -33.9800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 12.3597
    Cell Significance Index: -33.1100
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 9.2106
    Cell Significance Index: -28.2900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 8.6846
    Cell Significance Index: -34.2700
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 7.7219
    Cell Significance Index: -16.9000
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 3.9570
    Cell Significance Index: 65.2100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.5692
    Cell Significance Index: 314.7800
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 1.4402
    Cell Significance Index: 34.5400
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.3381
    Cell Significance Index: 29.3000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 1.2695
    Cell Significance Index: 78.0300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.2324
    Cell Significance Index: 442.0400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.1416
    Cell Significance Index: 226.5500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.9360
    Cell Significance Index: 12.7700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.8914
    Cell Significance Index: 96.9600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.8262
    Cell Significance Index: 49.6000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.7909
    Cell Significance Index: 128.6400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.7252
    Cell Significance Index: 501.5600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.7021
    Cell Significance Index: 53.8800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.6656
    Cell Significance Index: 37.3500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.5820
    Cell Significance Index: 67.8300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.5737
    Cell Significance Index: 14.3400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.4232
    Cell Significance Index: 18.7200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.4044
    Cell Significance Index: 6.9300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.3895
    Cell Significance Index: 14.7500
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.3886
    Cell Significance Index: 4.8200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.3565
    Cell Significance Index: 23.9700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3136
    Cell Significance Index: 6.8000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2915
    Cell Significance Index: 8.4000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2768
    Cell Significance Index: 49.9000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2577
    Cell Significance Index: 11.6800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.2385
    Cell Significance Index: 6.1300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1982
    Cell Significance Index: 87.6500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1693
    Cell Significance Index: 16.7500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.1517
    Cell Significance Index: 4.3300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1471
    Cell Significance Index: 27.9900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1415
    Cell Significance Index: 17.4000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1306
    Cell Significance Index: 71.3000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1036
    Cell Significance Index: 6.5300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0748
    Cell Significance Index: 2.0900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0693
    Cell Significance Index: 130.4500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0435
    Cell Significance Index: 80.2200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0353
    Cell Significance Index: 22.4300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0347
    Cell Significance Index: 53.3700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0325
    Cell Significance Index: 44.1900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0284
    Cell Significance Index: 3.9000
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.0180
    Cell Significance Index: 0.3800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.0054
    Cell Significance Index: 0.2800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0066
    Cell Significance Index: -0.1800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0106
    Cell Significance Index: -4.8000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0124
    Cell Significance Index: -7.7700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0220
    Cell Significance Index: -16.2800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0262
    Cell Significance Index: -3.8100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0303
    Cell Significance Index: -22.1800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0337
    Cell Significance Index: -5.7500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0432
    Cell Significance Index: -24.3900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0437
    Cell Significance Index: -33.0600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0512
    Cell Significance Index: -2.6600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0690
    Cell Significance Index: -1.4700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0797
    Cell Significance Index: -3.7200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0925
    Cell Significance Index: -10.9100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0982
    Cell Significance Index: -28.2500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0994
    Cell Significance Index: -20.9300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1158
    Cell Significance Index: -14.8400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1183
    Cell Significance Index: -7.6300
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1383
    Cell Significance Index: -2.7000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1500
    Cell Significance Index: -17.1800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1630
    Cell Significance Index: -11.5300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1873
    Cell Significance Index: -6.5800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1968
    Cell Significance Index: -20.1100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.2034
    Cell Significance Index: -26.2800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2551
    Cell Significance Index: -11.9900
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2887
    Cell Significance Index: -32.9500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2905
    Cell Significance Index: -30.2500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.3321
    Cell Significance Index: -6.8900
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.3322
    Cell Significance Index: -3.9600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.3558
    Cell Significance Index: -26.5200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.3579
    Cell Significance Index: -18.7900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3776
    Cell Significance Index: -13.1200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3785
    Cell Significance Index: -29.9800
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.3859
    Cell Significance Index: -7.6300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4142
    Cell Significance Index: -13.5600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.4267
    Cell Significance Index: -13.6700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4518
    Cell Significance Index: -27.7000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4559
    Cell Significance Index: -14.5200
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.4679
    Cell Significance Index: -9.9300
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.4946
    Cell Significance Index: -9.9300
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.5466
    Cell Significance Index: -8.0700
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.5774
    Cell Significance Index: -13.3400
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.5806
    Cell Significance Index: -7.2400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.5932
    Cell Significance Index: -15.9000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.6079
    Cell Significance Index: -8.7100
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.6161
    Cell Significance Index: -13.3100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.6371
    Cell Significance Index: -17.3400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** Spastin is a cytoplasmic protein that belongs to the spastin family of microtubule-binding proteins. It is characterized by its ability to bind to microtubules and regulate their dynamics, thereby influencing axonal integrity and cellular homeostasis. Spastin is primarily expressed in neurons, particularly in Purkinje cells and GABAergic cortical interneurons. Its expression is also observed in other cell types, including germ cells and certain types of epithelial cells. **Pathways and Functions:** Spastin's primary function is to regulate microtubule dynamics, which is essential for maintaining axonal integrity and cellular homeostasis. It achieves this by binding to microtubules and regulating their severing and depolymerization. This process is crucial for maintaining the stability and structure of axons, which are essential for neuronal function and transmission. Spastin also plays a role in regulating axonal transport, particularly the anterograde transport of mitochondria. This process is essential for maintaining mitochondrial homeostasis and preventing axonal degeneration. In addition to its role in regulating microtubule dynamics and axonal transport, spastin has been shown to interact with various cellular pathways, including the cell cycle, cytokinesis, and cytoskeleton-dependent cytokinesis. These interactions suggest that spastin plays a broader role in maintaining cellular homeostasis and preventing aberrant cellular behavior. **Clinical Significance:** Mutations in the SPAST gene have been associated with Spastic Paraplegia type 4 (SPG4), a neurodegenerative disorder characterized by progressive spasticity and ataxia. SPG4 is a leading cause of hereditary spastic paraplegia, a group of disorders characterized by progressive weakness and stiffness of the legs. The pathogenesis of SPG4 is thought to involve mutations in the SPAST gene that disrupt the function of spastin, leading to aberrant microtubule dynamics and axonal degeneration. This degeneration can lead to progressive spasticity and ataxia, as well as cognitive and motor impairment. Recent studies have suggested that spastin may also play a role in other neurodegenerative disorders, including Amyotrophic Lateral Sclerosis (ALS) and Huntington's disease. Further research is needed to fully understand the role of spastin in these disorders and to develop effective therapeutic strategies. **Conclusion:** In conclusion, spastin is a complex protein that plays a crucial role in maintaining axonal integrity and cellular homeostasis. Its dysregulation has been associated with Spastic Paraplegia type 4, a neurodegenerative disorder characterized by progressive spasticity and ataxia. Further research is needed to fully understand the role of spastin in other neurodegenerative disorders and to develop effective therapeutic strategies for the treatment of these conditions.

Genular Protein ID: 840893059

Symbol: SPAST_HUMAN

Name: Spastic paraplegia 4 protein

UniProtKB Accession Codes:

Q9UBP0 A7E2A7 Q9UPR9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 2 CORUM 1 CTD 1 ChEBI 1 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 ELM 1 EMBL 5 EMDB 1 Ensembl 4 EvolutionaryTrace 1 ExpressionAtlas 1 GO 44 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HAMAP 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 10 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 7 PDBsum 7 PIRSF 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 SABIO-RK 1 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10610178

Title: Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.

PubMed ID: 10610178

DOI: 10.1038/15472

PubMed ID: 10470851

Title: Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

PubMed ID: 10470851

DOI: 10.1093/dnares/6.3.197

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11809724

Title: Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics.

PubMed ID: 11809724

DOI: 10.1093/hmg/11.2.153

PubMed ID: 12676568

Title: The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia.

PubMed ID: 12676568

DOI: 10.1016/s0888-7543(03)00011-9

PubMed ID: 15147984

Title: Identification of nuclear localisation sequences in spastin (SPG4) using a novel Tetra-GFP reporter system.

PubMed ID: 15147984

DOI: 10.1016/j.bbrc.2004.03.195

PubMed ID: 15269182

Title: Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon.

PubMed ID: 15269182

DOI: 10.1093/hmg/ddh223

PubMed ID: 16026783

Title: Spastin subcellular localization is regulated through usage of different translation start sites and active export from the nucleus.

PubMed ID: 16026783

DOI: 10.1016/j.yexcr.2005.06.009

PubMed ID: 15537668

Title: The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B.

PubMed ID: 15537668

DOI: 10.1093/hmg/ddi003

PubMed ID: 15716377

Title: Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing.

PubMed ID: 15716377

DOI: 10.1083/jcb.200409058

PubMed ID: 16219033

Title: Human spastin has multiple microtubule-related functions.

PubMed ID: 16219033

DOI: 10.1111/j.1471-4159.2005.03472.x

PubMed ID: 15891913

Title: Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia.

PubMed ID: 15891913

DOI: 10.1007/s10048-005-0219-2

PubMed ID: 16826525

Title: ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia.

PubMed ID: 16826525

DOI: 10.1086/504927

PubMed ID: 16339213

Title: Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners.

PubMed ID: 16339213

DOI: 10.1093/hmg/ddi447

PubMed ID: 16602018

Title: Spastin, the most commonly mutated protein in hereditary spastic paraplegia interacts with Reticulon 1 an endoplasmic reticulum protein.

PubMed ID: 16602018

DOI: 10.1007/s10048-006-0034-4

PubMed ID: 16815977

Title: Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance.

PubMed ID: 16815977

DOI: 10.1073/pnas.0510863103

PubMed ID: 17389232

Title: Recognition of C-terminal amino acids in tubulin by pore loops in Spastin is important for microtubule severing.

PubMed ID: 17389232

DOI: 10.1083/jcb.200610072

PubMed ID: 18613979

Title: A cryptic promoter in the first exon of the SPG4 gene directs the synthesis of the 60-kDa spastin isoform.

PubMed ID: 18613979

DOI: 10.1186/1741-7007-6-31

PubMed ID: 18410514

Title: Spastin oligomerizes into a hexamer and the mutant spastin (E442Q) redistribute the wild-type spastin into filamentous microtubule.

PubMed ID: 18410514

DOI: 10.1111/j.1471-4159.2008.05414.x

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 19000169

Title: Spastin couples microtubule severing to membrane traffic in completion of cytokinesis and secretion.

PubMed ID: 19000169

DOI: 10.1111/j.1600-0854.2008.00847.x

PubMed ID: 20200447

Title: Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network.

PubMed ID: 20200447

DOI: 10.1172/jci40979

PubMed ID: 20530212

Title: Tubulin polyglutamylation stimulates spastin-mediated microtubule severing.

PubMed ID: 20530212

DOI: 10.1083/jcb.201001024

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 21310966

Title: Cortical constriction during abscission involves helices of ESCRT-III-dependent filaments.

PubMed ID: 21310966

DOI: 10.1126/science.1201847

PubMed ID: 22637577

Title: Subunit Interactions and cooperativity in the microtubule-severing AAA ATPase spastin.

PubMed ID: 22637577

DOI: 10.1074/jbc.m111.291898

PubMed ID: 22232211

Title: Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.

PubMed ID: 22232211

DOI: 10.1172/jci60560

PubMed ID: 23272056

Title: Spastin's microtubule-binding properties and comparison to katanin.

PubMed ID: 23272056

DOI: 10.1371/journal.pone.0050161

PubMed ID: 23745751

Title: The nucleotide cycle of spastin correlates with its microtubule-binding properties.

PubMed ID: 23745751

DOI: 10.1111/febs.12385

PubMed ID: 23897888

Title: An ESCRT-spastin interaction promotes fission of recycling tubules from the endosome.

PubMed ID: 23897888

DOI: 10.1083/jcb.201211045

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 23969831

Title: Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation.

PubMed ID: 23969831

DOI: 10.1073/pnas.1307391110

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25390646

Title: Spastin-interacting protein NA14/SSNA1 functions in cytokinesis and axon development.

PubMed ID: 25390646

DOI: 10.1371/journal.pone.0112428

PubMed ID: 26040712

Title: Spastin and ESCRT-III coordinate mitotic spindle disassembly and nuclear envelope sealing.

PubMed ID: 26040712

DOI: 10.1038/nature14408

PubMed ID: 25875445

Title: Spastin binds to lipid droplets and affects lipid metabolism.

PubMed ID: 25875445

DOI: 10.1371/journal.pgen.1005149

PubMed ID: 26875866

Title: Graded control of microtubule severing by tubulin glutamylation.

PubMed ID: 26875866

DOI: 10.1016/j.cell.2016.01.019

PubMed ID: 18997780

Title: Structural basis for midbody targeting of spastin by the ESCRT-III protein CHMP1B.

PubMed ID: 18997780

DOI: 10.1038/nsmb.1512

PubMed ID: 22446388

Title: Crystal structure of the human spastin AAA domain.

PubMed ID: 22446388

DOI: 10.1016/j.jsb.2012.03.002

PubMed ID: 11039577

Title: Hereditary spastic paraplegia caused by mutations in the SPG4 gene.

PubMed ID: 11039577

DOI: 10.1038/sj.ejhg.5200528

PubMed ID: 10699187

Title: Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

PubMed ID: 10699187

DOI: 10.1093/hmg/9.4.637

PubMed ID: 11015453

Title: Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis.

PubMed ID: 11015453

DOI: 10.1136/jmg.37.10.759

PubMed ID: 11087788

Title: Novel mutations in spastin gene and absence of correlation with age at onset of symptoms.

PubMed ID: 11087788

DOI: 10.1212/wnl.55.9.1388

PubMed ID: 11309678

Title: Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.

PubMed ID: 11309678

DOI: 10.1086/320111

PubMed ID: 12460147

Title: A Japanese SPG4 family with a novel missense mutation of the SPG4 gene: intrafamilial variability in age at onset and clinical severity.

PubMed ID: 12460147

DOI: 10.1034/j.1600-0404.2002.01254.x

PubMed ID: 11843700

Title: Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia.

PubMed ID: 11843700

DOI: 10.1001/archneur.59.2.281

PubMed ID: 12124993

Title: Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia.

PubMed ID: 12124993

DOI: 10.1002/humu.10105

PubMed ID: 12161613

Title: Spastin gene mutation in Japanese with hereditary spastic paraplegia.

PubMed ID: 12161613

DOI: 10.1136/jmg.39.8.e46

PubMed ID: 11985387

Title: Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia.

PubMed ID: 11985387

DOI: 10.1007/pl00007865

PubMed ID: 12163196

Title: Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia.

PubMed ID: 12163196

DOI: 10.1016/s0022-510x(02)00192-2

PubMed ID: 12202986

Title: A novel missense mutation (I344K) in the SPG4gene in a Korean family with autosomal-dominant hereditary spastic paraplegia.

PubMed ID: 12202986

DOI: 10.1007/s100380200068

PubMed ID: 12552568

Title: Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene.

PubMed ID: 12552568

DOI: 10.1002/humu.9108

PubMed ID: 12939659

Title: Novel spastin mutations and their expression analysis in two Italian families.

PubMed ID: 12939659

DOI: 10.1038/sj.ejhg.5201027

PubMed ID: 14732620

Title: Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia.

PubMed ID: 14732620

DOI: 10.1001/archneur.61.1.49

PubMed ID: 15210521

Title: Hereditary spastic paraplegia: clinical genetic study of 15 families.

PubMed ID: 15210521

DOI: 10.1001/archneur.61.6.849

PubMed ID: 15667412

Title: Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation.

PubMed ID: 15667412

DOI: 10.1111/j.1468-1331.2004.00888.x

PubMed ID: 15248095

Title: Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.

PubMed ID: 15248095

DOI: 10.1007/s10048-004-0186-z

PubMed ID: 15482961

Title: Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis.

PubMed ID: 15482961

DOI: 10.1016/j.nmd.2004.05.017

PubMed ID: 15159500

Title: A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts.

PubMed ID: 15159500

DOI: 10.1212/01.wnl.0000125324.32082.d9

PubMed ID: 15326248

Title: Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene.

PubMed ID: 15326248

DOI: 10.1212/01.wnl.0000135346.63675.3e

PubMed ID: 16682546

Title: Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.

PubMed ID: 16682546

DOI: 10.1001/archneur.63.5.750

PubMed ID: 16684598

Title: Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia.

PubMed ID: 16684598

DOI: 10.1016/j.nmd.2006.03.009

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 17594340

Title: Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia.

PubMed ID: 17594340

DOI: 10.1111/j.1468-1331.2007.01861.x

PubMed ID: 20214791

Title: Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements.

PubMed ID: 20214791

DOI: 10.1186/1471-2377-10-17

PubMed ID: 20932283

Title: Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.

PubMed ID: 20932283

DOI: 10.1186/1471-2377-10-89

PubMed ID: 20562464

Title: Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations.

PubMed ID: 20562464

DOI: 10.1136/jnnp.2009.201103

PubMed ID: 20718791

Title: Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.

PubMed ID: 20718791

DOI: 10.1111/j.1399-0004.2010.01501.x

PubMed ID: 20550563

Title: Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia.

PubMed ID: 20550563

DOI: 10.1111/j.1468-1331.2010.03102.x

PubMed ID: 21546041

Title: Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males.

PubMed ID: 21546041

DOI: 10.1016/j.jns.2011.03.043

PubMed ID: 22960362

Title: Novel and recurrent spastin mutations in a large series of SPG4 Italian families.

PubMed ID: 22960362

DOI: 10.1016/j.neulet.2012.08.036

PubMed ID: 23279441

Title: First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia.

PubMed ID: 23279441

DOI: 10.1111/ene.12000

PubMed ID: 25421405

Title: High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia.

PubMed ID: 25421405

DOI: 10.1186/s12883-014-0216-x

PubMed ID: 25045380

Title: Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia.

PubMed ID: 25045380

DOI: 10.3988/jcn.2014.10.3.257

PubMed ID: 24824479

Title: Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia.

PubMed ID: 24824479

DOI: 10.1016/j.parkreldis.2014.04.021

PubMed ID: 28572275

Title: Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.

PubMed ID: 28572275

DOI: 10.1136/jnnp-2017-315796

Sequence Information:

  • Length: 616
  • Mass: 67197
  • Checksum: 75E5FC5787132B4C
  • Sequence:
    • MNSPGGRGKK KGSGGASNPV PPRPPPPCLA PAPPAAGPAP PPESPHKRNL YYFSYPLFVG 
FALLRLVAFH LGLLFVWLCQ RFSRALMAAK RSSGAAPAPA SASAPAPVPG GEAERVRVFH 
KQAFEYISIA LRIDEDEKAG QKEQAVEWYK KGIEELEKGI AVIVTGQGEQ CERARRLQAK 
MMTNLVMAKD RLQLLEKMQP VLPFSKSQTD VYNDSTNLAC RNGHLQSESG AVPKRKDPLT 
HTSNSLPRSK TVMKTGSAGL SGHHRAPSYS GLSMVSGVKQ GSGPAPTTHK GTPKTNRTNK 
PSTPTTATRK KKDLKNFRNV DSNLANLIMN EIVDNGTAVK FDDIAGQDLA KQALQEIVIL 
PSLRPELFTG LRAPARGLLL FGPPGNGKTM LAKAVAAESN ATFFNISAAS LTSKYVGEGE 
KLVRALFAVA RELQPSIIFI DEVDSLLCER REGEHDASRR LKTEFLIEFD GVQSAGDDRV 
LVMGATNRPQ ELDEAVLRRF IKRVYVSLPN EETRLLLLKN LLCKQGSPLT QKELAQLARM 
TDGYSGSDLT ALAKDAALGP IRELKPEQVK NMSASEMRNI RLSDFTESLK KIKRSVSPQT 
LEAYIRWNKD FGDTTV

Genular Protein ID: 2143725779

Symbol: E5KRP6_HUMAN

Name: N/A

UniProtKB Accession Codes:

E5KRP6

Database IDs:

ARBA 7 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CDD 2 CTD 1 ChEBI 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 1 EMBL 41 ExpressionAtlas 1 GO 22 Gene3D 3 HAMAP 1 HAMAP-Rule 1 InterPro 10 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSF 1 PROSITE 1 Pfam 3 RefSeq 1 SAM 2 SMART 4 SMR 1 SUPFAM 1 VEuPathDB 1

Citations:

PubMed ID: 20843780

Title: Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.

PubMed ID: 20843780

DOI: 10.1093/nar/gkq750

Sequence Information:

  • Length: 584
  • Mass: 63606
  • Checksum: 502F0FCB78ECED14
  • Sequence:
    • MNSPGGRGKK KGSGGASNPV PPRPPPPCLA PAPPAAGPAP PPESPHKRNL YYFSYPLFVG 
FALLRLVAFH LGLLFVWLCQ RFSRALMAAK RSSGAAPAPA SASAPAPVPG GEAERVRVFH 
KQAFEYISIA LRIDEDEKAG QKEQAVEWYK KGIEELEKGI AVIVTGQGEQ CERARRLQAK 
MMTNLVMAKD RLQLLESGAV PKRKDPLTHT SNSLPRSKTV MKTGSAGLSG HHRAPSYSGL 
SMVSGVKQGS GPAPTTHKGT PKTNRTNKPS TPTTATRKKK DLKNFRNVDS NLANLIMNEI 
VDNGTAVKFD DIAGQDLAKQ ALQEIVILPS LRPELFTGLR APARGLLLFG PPGNGKTMLA 
KAVAAESNAT FFNISAASLT SKYVGEGEKL VRALFAVARE LQPSIIFIDE VDSLLCERRE 
GEHDASRRLK TEFLIEFDGV QSAGDDRVLV MGATNRPQEL DEAVLRRFIK RVYVSLPNEE 
TRLLLLKNLL CKQGSPLTQK ELAQLARMTD GYSGSDLTAL AKDAALGPIR ELKPEQVKNM 
SASEMRNIRL SDFTESLKKI KRSVSPQTLE AYIRWNKDFG DTTV

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.