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Q9UBP0

- SPAST_HUMAN

UniProt

Q9UBP0 - SPAST_HUMAN

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Protein

Spastin

Gene
SPAST, ADPSP, FSP2, KIAA1083, SPG4
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.7 Publications

Catalytic activityi

ATP + H2O = ADP + phosphate.6 Publications

Enzyme regulationi

Allosteric enzyme with a cooperative mechanism; at least two neighbor subunits influence each other strongly in spastin hexamers. Microtubule binding promotes cooperative interactions among spastin subunits.1 Publication

Kineticsi

Kinetic parameters shown are for full length enzyme. N-terminally truncated spastin (residues 228-616), which has been shown to exhibit full severing activity, shows a basal ATP turnover rate of 0.78 sec(-1) in the absence of microtubules, a KM of 0.16 mM for ATP, and the ATP turnover rate is extrapolated to 3.83 sec(-1) in the presence of microtubules. ATPase activity shows non-Michaelis-Menten kinetics in the presence of microtubules, but is close to non-cooperative behavior in their absence (1 Publication

).

  1. KM=0.45 mM for ATP3 Publications

Vmax=1.2 nmol/min/µg enzyme

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi382 – 3898ATP Inferred

GO - Molecular functioni

  1. alpha-tubulin binding Source: UniProtKB
  2. ATP binding Source: UniProtKB-HAMAP
  3. beta-tubulin binding Source: UniProtKB
  4. microtubule binding Source: UniProtKB
  5. microtubule-severing ATPase activity Source: UniProtKB
  6. protein binding Source: UniProtKB

GO - Biological processi

  1. ATP catabolic process Source: GOC
  2. axonogenesis Source: UniProtKB-HAMAP
  3. cell death Source: UniProtKB-KW
  4. cytokinesis, completion of separation Source: UniProtKB
  5. ER to Golgi vesicle-mediated transport Source: UniProtKB
  6. microtubule bundle formation Source: UniProtKB
  7. microtubule severing Source: UniProtKB
  8. positive regulation of microtubule depolymerization Source: UniProtKB-HAMAP
  9. protein hexamerization Source: UniProtKB
  10. protein homooligomerization Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Hydrolase

Keywords - Biological processi

Cell cycle, Cell division, Differentiation, Neurogenesis

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Spastin (EC:3.6.4.3)
Alternative name(s):
Spastic paraplegia 4 protein
Gene namesi
Name:SPAST
Synonyms:ADPSP, FSP2, KIAA1083, SPG4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:11233. SPAST.

Subcellular locationi

Membrane; Single-pass membrane protein Reviewed prediction. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Cytoplasmcytoskeleton. Cytoplasmperinuclear region. Endoplasmic reticulum. Endosome. Nucleus. Cytoplasmcytoskeletonspindle
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.15 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei57 – 7721Helical; Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. centrosome Source: UniProtKB-HAMAP
  2. cytoplasm Source: UniProtKB
  3. cytoplasmic vesicle Source: MGI
  4. endoplasmic reticulum Source: UniProtKB-SubCell
  5. endosome Source: UniProtKB-SubCell
  6. extracellular vesicular exosome Source: UniProt
  7. integral component of membrane Source: UniProtKB-KW
  8. microtubule Source: UniProtKB-HAMAP
  9. midbody Source: UniProtKB-HAMAP
  10. nucleus Source: UniProtKB
  11. perinuclear region of cytoplasm Source: UniProtKB-SubCell
  12. spindle Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Endoplasmic reticulum, Endosome, Membrane, Microtubule, Nucleus

Pathology & Biotechi

Involvement in diseasei

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.35 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti44 – 441S → L Rare polymorphism which modifies the phenotype of SPG4 disease; may decrease the activity of the alternative promoter which directs the synthesis of isoform 3 and isoform 4. 7 Publications
Corresponds to variant rs121908515 [ dbSNP | Ensembl ].
VAR_010194
Natural varianti45 – 451P → Q Rare polymorphism which modifies the phenotype of SPG4 disease. 1 Publication
VAR_027205
Natural varianti195 – 1951L → V in SPG4. 1 Publication
VAR_026758
Natural varianti287 – 2871Missing in SPG4. 1 Publication
VAR_067631
Natural varianti293 – 2931P → L in SPG4. 1 Publication
VAR_067632
Natural varianti344 – 3441I → K in SPG4; abrogates ATPase activity and promotes microtubule binding. 2 Publications
VAR_019448
Natural varianti347 – 3471Q → K in SPG4; promotes microtubule binding. 2 Publications
VAR_027206
Natural varianti361 – 3611P → L in SPG4. 1 Publication
VAR_027207
Natural varianti362 – 3621S → C in SPG4. 2 Publications
VAR_010195
Natural varianti364 – 3641R → T in SPG4. 1 Publication
VAR_067636
Natural varianti370 – 3701G → R in SPG4; promotes microtubule binding and the formation of thick microtubule bundles. 2 Publications
VAR_027208
Natural varianti378 – 3781L → Q in SPG4. 1 Publication
VAR_019439
Natural varianti378 – 3781L → R in SPG4. 1 Publication
VAR_067637
Natural varianti380 – 3801L → H in SPG4. 2 Publications
VAR_067638
Natural varianti381 – 3811F → C in SPG4; promotes microtubule binding and the formation of thick microtubule bundles. 2 Publications
VAR_027209
Natural varianti386 – 3861N → K in SPG4; abrogates ATPase activity, promotes microtubule binding and the formation of thick microtubule bundles. 3 Publications
VAR_027210
Natural varianti386 – 3861N → S in SPG4. 1 Publication
VAR_019440
Natural varianti388 – 3881K → R in SPG4; abrogates ATPase activity, promotes microtubule binding and the formation of thick microtubule bundles and impairs traffic from the ER to Golgi. 7 Publications
VAR_027211
Natural varianti390 – 3901M → V in SPG4. 1 Publication
VAR_019441
Natural varianti391 – 3911L → P in SPG4. 1 Publication
VAR_067639
Natural varianti393 – 3964Missing in SPG4.
VAR_067640
Natural varianti399 – 3991S → L in SPG4. 1 Publication
VAR_027212
Natural varianti404 – 4041Missing in SPG4. 1 Publication
VAR_019449
Natural varianti406 – 4061I → V in SPG4. 1 Publication
VAR_026759
Natural varianti407 – 4071S → R in SPG4. 1 Publication
VAR_019450
Natural varianti409 – 4091A → T in SPG4. 1 Publication
VAR_067641
Natural varianti410 – 4101S → R in SPG4. 1 Publication
VAR_067642
Natural varianti413 – 4131S → L in SPG4. 1 Publication
VAR_067568
Natural varianti424 – 4241R → G in SPG4. 1 Publication
VAR_010196
Natural varianti426 – 4261L → F in SPG4. 1 Publication
VAR_067643
Natural varianti426 – 4261L → V in SPG4; promotes microtubule binding and the formation of thick microtubule bundles. 3 Publications
VAR_027213
Natural varianti435 – 4351P → L in SPG4. 1 Publication
VAR_027214
Natural varianti436 – 4361S → F in SPG4. 1 Publication
VAR_027215
Natural varianti436 – 4361S → P in SPG4. 1 Publication
VAR_067644
Natural varianti441 – 4411D → G in SPG4. 1 Publication
VAR_027216
Natural varianti441 – 4411D → N in SPG4. 1 Publication
VAR_067645
Natural varianti448 – 4481C → Y in SPG4; abrogates binding to the tail of beta-3-tubulin, abolishes microtubule severing and promotes the formation of thick microtubule bundles. 4 Publications
VAR_010197
Natural varianti454 – 4541E → K in SPG4. 1 Publication
VAR_067571
Natural varianti459 – 4591R → G in SPG4. 1 Publication
VAR_027217
Natural varianti460 – 4601R → C in SPG4; promotes microtubule binding and the formation of thick microtubule bundles. 1 Publication
VAR_027218
Natural varianti460 – 4601R → L in SPG4. 2 Publications
VAR_027219
Natural varianti460 – 4601R → S in SPG4. 3 Publications
VAR_067572
Natural varianti463 – 4631T → A in SPG4. 1 Publication
VAR_067646
Natural varianti470 – 4701D → V in SPG4. 1 Publication
Corresponds to variant rs28939368 [ dbSNP | Ensembl ].
VAR_027220
Natural varianti485 – 4851A → V in SPG4. 1 Publication
VAR_027221
Natural varianti489 – 4891P → L in SPG4. 1 Publication
VAR_027222
Natural varianti492 – 4921L → F in SPG4. 1 Publication
VAR_067648
Natural varianti493 – 4931D → G in SPG4. 1 Publication
VAR_026760
Natural varianti498 – 4981R → G in SPG4. 2 Publications
VAR_067649
Natural varianti499 – 4991R → C in SPG4; abrogates ATPase activity, promotes microtubule binding and the formation of thick microtubule bundles. 6 Publications
VAR_010198
Natural varianti499 – 4991R → H in SPG4. 1 Publication
VAR_026761
Natural varianti503 – 5031R → L in SPG4. 1 Publication
VAR_019442
Natural varianti503 – 5031R → RR in SPG4. 1 Publication
VAR_067650
Natural varianti503 – 5031R → W in SPG4. 1 Publication
VAR_026762
Natural varianti512 – 5121E → D in SPG4. 1 Publication
VAR_027223
Natural varianti514 – 5141R → G in SPG4. 1 Publication
VAR_067651
Natural varianti515 – 5151Missing in SPG4. 1 Publication
VAR_019443
Natural varianti534 – 5341L → P in SPG4. 1 Publication
VAR_019444
Natural varianti551 – 5511A → Y in SPG4; requires 2 nucleotide substitutions. 1 Publication
VAR_019451
Natural varianti555 – 5551D → N in SPG4. 1 Publication
VAR_027224
Natural varianti556 – 5561A → V in SPG4; promotes microtubule binding and the formation of thick microtubule bundles. 2 Publications
VAR_027225
Natural varianti559 – 5591G → D in SPG4. 2 Publications
VAR_027226
Natural varianti562 – 5621R → G in SPG4. 2 Publications
VAR_027227
Natural varianti562 – 5621R → Q in SPG4. 1 Publication
VAR_027228
Natural varianti580 – 5801I → T in SPG4. 1 Publication
VAR_067654
Natural varianti584 – 5841D → H in SPG4. 1 Publication
VAR_010199
Natural varianti607 – 6071W → C in SPG4. 1 Publication
VAR_026763
Natural varianti614 – 6141T → I in SPG4; variant form with congenital arachnoid cysts. 1 Publication
VAR_019445
Natural varianti615 – 6151T → I in SPG4. 1 Publication
VAR_019452

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi1 – 11M → V: Cytoplasmic and nuclear. 1 Publication
Mutagenesisi87 – 871M → V: Exclusively cytoplasmic. 1 Publication
Mutagenesisi120 – 1201H → D: Impairs binding to CHMP1B. Impairs midbody localization; when associated with D-124. 1 Publication
Mutagenesisi124 – 1241F → A: Impairs binding to CHMP1B. 1 Publication
Mutagenesisi124 – 1241F → D: Impairs binding to CHMP1B. Impairs midbody localization; when associated with D-120. 1 Publication
Mutagenesisi310 – 3123KKK → QQQ: Loss of microtubule-binding. 1 Publication
Mutagenesisi388 – 3881K → A: Abrogates ATPase activity and abolishes microtubule severing. 1 Publication
Mutagenesisi415 – 4151Y → A: Abrogates binding to the tail of alpha-tubulin and beta-3-tubulin, impairs ATPase activity and abolishes microtubule severing. 1 Publication
Mutagenesisi442 – 4421E → Q: Abrogates ATP hydrolysis, abolishes microtubule severing, stabilizes the homohexameric form, and promotes microtubule binding and redistribution from the endosome to microtubules. 6 Publications
Mutagenesisi451 – 4511R → G: Abrogates binding to the tail of alpha-tubulin and beta-3-tubulin, impairs ATPase activity and abolishes microtubule severing. 1 Publication
Mutagenesisi457 – 4571A → E: Abrogates binding to the tail of alpha-tubulin and beta-3-tubulin and abolishes microtubule severing. 1 Publication

Keywords - Diseasei

Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

MIMi182601. phenotype.
Orphaneti100985. Autosomal dominant spastic paraplegia type 4.
PharmGKBiPA36063.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 616616SpastinUniRule annotationPRO_0000084763Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei245 – 2451Phosphoserine1 Publication
Modified residuei268 – 2681Phosphoserine3 Publications
Modified residuei306 – 3061Phosphothreonine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9UBP0.
PaxDbiQ9UBP0.
PeptideAtlasiQ9UBP0.
PRIDEiQ9UBP0.

PTM databases

PhosphoSiteiQ9UBP0.

Expressioni

Tissue specificityi

Expressed in brain, heart, kidney, liver, lung, pancreas, placenta and skeletal muscle. The short isoforms may predominate in brain and spinal cord.1 Publication

Developmental stagei

Expressed in fetal brain, heart, kidney, liver, lung, skeletal muscle, spleen and thymus.1 Publication

Gene expression databases

ArrayExpressiQ9UBP0.
BgeeiQ9UBP0.
CleanExiHS_SPAST.
GenevestigatoriQ9UBP0.

Organism-specific databases

HPAiHPA017311.

Interactioni

Subunit structurei

Homohexamer. Mostly monomeric, but assembles into hexameric structure for short periods of time. Oligomerization seems to be a prerequisite for catalytic activity. Binding to ATP in a cleft between two adjacent subunits stabilizes the homohexameric form. Binds to microtubules at least in part via the alpha-tubulin and beta-tubulin tails. The hexamer adopts a ring conformation through which microtubules pass prior to being severed. Does not interact strongly with tubulin heterodimers. Interacts (via MIT domain) with CHMP1B; the interaction is direct. Interacts with ATL1, RTN1, SSNA1 and ZFYVE27. Isoform 1 but not isoform 3 interacts with RTN2. Interacts with REEP1.14 Publications

Protein-protein interaction databases

BioGridi112562. 7 interactions.
IntActiQ9UBP0. 4 interactions.
STRINGi9606.ENSP00000320885.

Structurei

Secondary structure

1
616
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi112 – 13625
Beta strandi139 – 1413
Helixi142 – 1443
Helixi146 – 16116
Helixi169 – 19527
Helixi328 – 3303
Helixi341 – 3433
Helixi348 – 35710
Helixi359 – 3635
Turni365 – 3673
Helixi370 – 3723
Beta strandi376 – 3838
Helixi388 – 39811
Beta strandi402 – 4065
Helixi420 – 43213
Beta strandi433 – 4419
Helixi443 – 4464
Helixi458 – 47215
Beta strandi480 – 4878
Helixi489 – 4913
Helixi494 – 4974
Beta strandi502 – 5054
Helixi511 – 52212
Helixi531 – 54010
Turni541 – 5433
Helixi546 – 55611
Helixi559 – 5624
Beta strandi573 – 5753
Helixi582 – 59110
Helixi598 – 61013

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3EABX-ray2.50A/B/C/D/E/F112-196[»]
3VFDX-ray3.30A228-616[»]
ProteinModelPortaliQ9UBP0.
SMRiQ9UBP0. Positions 112-196, 324-612.

Miscellaneous databases

EvolutionaryTraceiQ9UBP0.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini120 – 19576MITAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 300300Required for interaction with RTN1UniRule annotationAdd
BLAST
Regioni1 – 194194Required for midbody localizationUniRule annotationAdd
BLAST
Regioni1 – 8080Required for interaction with ATL1UniRule annotationAdd
BLAST
Regioni1 – 5050Required for nuclear localizationUniRule annotationAdd
BLAST
Regioni50 – 8738Required for interaction with SSNA1 and microtubulesUniRule annotationAdd
BLAST
Regioni112 – 19685Sufficient for interaction with CHMP1BUniRule annotationAdd
BLAST
Regioni114 – 20087Required for interaction with microtubulesUniRule annotationAdd
BLAST
Regioni226 – 328103Sufficient for interaction with microtubules By similarityAdd
BLAST
Regioni228 – 616389Sufficient for microtubule severingUniRule annotationAdd
BLAST
Regioni270 – 32859Required for interaction with microtubules and microtubule severingUniRule annotationAdd
BLAST
Regioni310 – 3123Required for interaction with microtubulesUniRule annotation

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi4 – 118Nuclear localization signal1 Publication
Motifi59 – 679Nuclear export signalUniRule annotation
Motifi309 – 3124Nuclear localization signal1 Publication

Sequence similaritiesi

Contains 1 MIT domain.

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0464.
HOGENOMiHOG000225146.
HOVERGENiHBG108502.
InParanoidiQ9UBP0.
KOiK13254.
OMAiSEMRNIK.
OrthoDBiEOG7GXPCR.
PhylomeDBiQ9UBP0.
TreeFamiTF105014.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
HAMAPiMF_03021. Spastin.
InterProiIPR003593. AAA+_ATPase.
IPR003959. ATPase_AAA_core.
IPR003960. ATPase_AAA_CS.
IPR007330. MIT.
IPR027417. P-loop_NTPase.
IPR017179. Spastin.
[Graphical view]
PfamiPF00004. AAA. 1 hit.
PF04212. MIT. 1 hit.
[Graphical view]
PIRSFiPIRSF037338. Spastin. 1 hit.
SMARTiSM00382. AAA. 1 hit.
SM00745. MIT. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS00674. AAA. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative promoter usage, alternative splicing and alternative initiation. Align

Note: Alternative promoter usage of a cryptic promoter in exon 1 can direct the synthesis of N-terminally truncated isoforms, which may also arise from alternative initiation.

Isoform 1 (identifier: Q9UBP0-1) [UniParc]FASTAAdd to Basket

Also known as: Long, Long variant 1

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MNSPGGRGKK KGSGGASNPV PPRPPPPCLA PAPPAAGPAP PPESPHKRNL    50
YYFSYPLFVG FALLRLVAFH LGLLFVWLCQ RFSRALMAAK RSSGAAPAPA 100
SASAPAPVPG GEAERVRVFH KQAFEYISIA LRIDEDEKAG QKEQAVEWYK 150
KGIEELEKGI AVIVTGQGEQ CERARRLQAK MMTNLVMAKD RLQLLEKMQP 200
VLPFSKSQTD VYNDSTNLAC RNGHLQSESG AVPKRKDPLT HTSNSLPRSK 250
TVMKTGSAGL SGHHRAPSYS GLSMVSGVKQ GSGPAPTTHK GTPKTNRTNK 300
PSTPTTATRK KKDLKNFRNV DSNLANLIMN EIVDNGTAVK FDDIAGQDLA 350
KQALQEIVIL PSLRPELFTG LRAPARGLLL FGPPGNGKTM LAKAVAAESN 400
ATFFNISAAS LTSKYVGEGE KLVRALFAVA RELQPSIIFI DEVDSLLCER 450
REGEHDASRR LKTEFLIEFD GVQSAGDDRV LVMGATNRPQ ELDEAVLRRF 500
IKRVYVSLPN EETRLLLLKN LLCKQGSPLT QKELAQLARM TDGYSGSDLT 550
ALAKDAALGP IRELKPEQVK NMSASEMRNI RLSDFTESLK KIKRSVSPQT 600
LEAYIRWNKD FGDTTV 616
Length:616
Mass (Da):67,197
Last modified:May 1, 2000 - v1
Checksum:i75E5FC5787132B4C
GO
Isoform 2 (identifier: Q9UBP0-2) [UniParc]FASTAAdd to Basket

Also known as: Long variant 2

The sequence of this isoform differs from the canonical sequence as follows:
     197-228: Missing.

Show »
Length:584
Mass (Da):63,606
Checksum:i502F0FCB78ECED14
GO
Isoform 3 (identifier: Q9UBP0-3) [UniParc]FASTAAdd to Basket

Also known as: Short, Short variant 1

The sequence of this isoform differs from the canonical sequence as follows:
     1-86: Missing.

Note: Produced by alternative promoter usage. May also be produced by alternative initiation at Met-87 of isoform 1. Major isoform.

Show »
Length:530
Mass (Da):58,009
Checksum:i0A4DB33B07801675
GO
Isoform 4 (identifier: Q9UBP0-4) [UniParc]FASTAAdd to Basket

Also known as: Short variant 2

The sequence of this isoform differs from the canonical sequence as follows:
     1-86: Missing.
     197-228: Missing.

Note: Produced by alternative promoter usage and alternative splicing. May also be produced by alternative initiation at Met-87 of isoform 2.

Show »
Length:498
Mass (Da):54,418
Checksum:iF8BB32A6C8CB1D73
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti44 – 441S → L Rare polymorphism which modifies the phenotype of SPG4 disease; may decrease the activity of the alternative promoter which directs the synthesis of isoform 3 and isoform 4. 7 Publications
Corresponds to variant rs121908515 [ dbSNP | Ensembl ].
VAR_010194
Natural varianti45 – 451P → Q Rare polymorphism which modifies the phenotype of SPG4 disease. 1 Publication
VAR_027205
Natural varianti97 – 971P → T in a patient with hereditary spastic paraplegia; unknown pathological significance. 1 Publication
VAR_067628
Natural varianti162 – 1621V → I in a patient with hereditary spastic paraplegia; unknown pathological significance. 2 Publications
Corresponds to variant rs141944844 [ dbSNP | Ensembl ].
VAR_067563
Natural varianti195 – 1951L → V in SPG4. 1 Publication
VAR_026758
Natural varianti201 – 2011V → D in a patient with hereditary spastic paraplegia; unknown pathological significance. 1 Publication
VAR_067629
Natural varianti229 – 2291S → G.1 Publication
VAR_067630
Natural varianti287 – 2871Missing in SPG4. 1 Publication
VAR_067631
Natural varianti293 – 2931P → L in SPG4. 1 Publication
VAR_067632
Natural varianti314 – 3141L → S in a patient with hereditary spastic paraplegia; unknown pathological significance. 1 Publication
VAR_067633
Natural varianti328 – 3281I → L in a patient with hereditary spastic paraplegia; unknown pathological significance. 1 Publication
VAR_067634
Natural varianti344 – 3441I → K in SPG4; abrogates ATPase activity and promotes microtubule binding. 2 Publications
VAR_019448
Natural varianti347 – 3471Q → K in SPG4; promotes microtubule binding. 2 Publications
VAR_027206
Natural varianti356 – 3561E → K in a patient with hereditary spastic paraplegia; unknown pathological significance. 1 Publication
VAR_067564
Natural varianti360 – 3601L → V in a patient with hereditary spastic paraplegia; unknown pathological significance. 1 Publication
VAR_067635
Natural varianti361 – 3611P → L in SPG4. 1 Publication
VAR_027207
Natural varianti362 – 3621S → C in SPG4. 2 Publications
VAR_010195
Natural varianti364 – 3641R → T in SPG4. 1 Publication
VAR_067636
Natural varianti365 – 3651P → S in a patient with hereditary spastic paraplegia; unknown pathological significance. 1 Publication
VAR_067565
Natural varianti370 – 3701G → R in SPG4; promotes microtubule binding and the formation of thick microtubule bundles. 2 Publications
VAR_027208
Natural varianti378 – 3781L → Q in SPG4. 1 Publication
VAR_019439
Natural varianti378 – 3781L → R in SPG4. 1 Publication
VAR_067637
Natural varianti380 – 3801L → H in SPG4. 2 Publications
VAR_067638
Natural varianti381 – 3811F → C in SPG4; promotes microtubule binding and the formation of thick microtubule bundles. 2 Publications
VAR_027209
Natural varianti382 – 3821G → R in a patient with hereditary spastic paraplegia; unknown pathological significance. 1 Publication
VAR_067566
Natural varianti386 – 3861N → K in SPG4; abrogates ATPase activity, promotes microtubule binding and the formation of thick microtubule bundles. 3 Publications
VAR_027210
Natural varianti386 – 3861N → S in SPG4. 1 Publication
VAR_019440
Natural varianti388 – 3881K → R in SPG4; abrogates ATPase activity, promotes microtubule binding and the formation of thick microtubule bundles and impairs traffic from the ER to Golgi. 7 Publications
VAR_027211
Natural varianti390 – 3901M → V in SPG4. 1 Publication
VAR_019441
Natural varianti391 – 3911L → P in SPG4. 1 Publication
VAR_067639
Natural varianti393 – 3964Missing in SPG4.
VAR_067640
Natural varianti399 – 3991S → L in SPG4. 1 Publication
VAR_027212
Natural varianti404 – 4041Missing in SPG4. 1 Publication
VAR_019449
Natural varianti406 – 4061I → V in SPG4. 1 Publication
VAR_026759
Natural varianti407 – 4071S → I in a patient with hereditary spastic paraplegia; unknown pathological significance. 1 Publication
VAR_067567
Natural varianti407 – 4071S → R in SPG4. 1 Publication
VAR_019450
Natural varianti409 – 4091A → T in SPG4. 1 Publication
VAR_067641
Natural varianti410 – 4101S → R in SPG4. 1 Publication
VAR_067642
Natural varianti413 – 4131S → L in SPG4. 1 Publication
VAR_067568
Natural varianti422 – 4221L → F in a patient with hereditary spastic paraplegia; unknown pathological significance. 1 Publication
VAR_067569
Natural varianti423 – 4231V → L in a breast cancer sample; somatic mutation. 1 Publication
VAR_035902
Natural varianti424 – 4241R → G in SPG4. 1 Publication
VAR_010196
Natural varianti426 – 4261L → F in SPG4. 1 Publication
VAR_067643
Natural varianti426 – 4261L → V in SPG4; promotes microtubule binding and the formation of thick microtubule bundles. 3 Publications
VAR_027213
Natural varianti435 – 4351P → L in SPG4. 1 Publication
VAR_027214
Natural varianti436 – 4361S → F in SPG4. 1 Publication
VAR_027215
Natural varianti436 – 4361S → P in SPG4. 1 Publication
VAR_067644
Natural varianti441 – 4411D → G in SPG4. 1 Publication
VAR_027216
Natural varianti441 – 4411D → N in SPG4. 1 Publication
VAR_067645
Natural varianti445 – 4451S → N in a patient with hereditary spastic paraplegia; unknown pathological significance. 1 Publication
VAR_067570
Natural varianti448 – 4481C → Y in SPG4; abrogates binding to the tail of beta-3-tubulin, abolishes microtubule severing and promotes the formation of thick microtubule bundles. 4 Publications
VAR_010197
Natural varianti454 – 4541E → K in SPG4. 1 Publication
VAR_067571
Natural varianti459 – 4591R → G in SPG4. 1 Publication
VAR_027217
Natural varianti460 – 4601R → C in SPG4; promotes microtubule binding and the formation of thick microtubule bundles. 1 Publication
VAR_027218
Natural varianti460 – 4601R → L in SPG4. 2 Publications
VAR_027219
Natural varianti460 – 4601R → S in SPG4. 3 Publications
VAR_067572
Natural varianti463 – 4631T → A in SPG4. 1 Publication
VAR_067646
Natural varianti464 – 4641E → A in a patient with hereditary spastic paraplegia; unknown pathological significance. 1 Publication
VAR_067647
Natural varianti470 – 4701D → V in SPG4. 1 Publication
Corresponds to variant rs28939368 [ dbSNP | Ensembl ].
VAR_027220
Natural varianti482 – 4821V → L in a patient with hereditary spastic paraplegia; unknown pathological significance. 1 Publication
VAR_067573
Natural varianti485 – 4851A → V in SPG4. 1 Publication
VAR_027221
Natural varianti489 – 4891P → L in SPG4. 1 Publication
VAR_027222
Natural varianti492 – 4921L → F in SPG4. 1 Publication
VAR_067648
Natural varianti493 – 4931D → G in SPG4. 1 Publication
VAR_026760
Natural varianti498 – 4981R → G in SPG4. 2 Publications
VAR_067649
Natural varianti499 – 4991R → C in SPG4; abrogates ATPase activity, promotes microtubule binding and the formation of thick microtubule bundles. 6 Publications
VAR_010198
Natural varianti499 – 4991R → H in SPG4. 1 Publication
VAR_026761
Natural varianti503 – 5031R → L in SPG4. 1 Publication
VAR_019442
Natural varianti503 – 5031R → RR in SPG4. 1 Publication
VAR_067650
Natural varianti503 – 5031R → W in SPG4. 1 Publication
VAR_026762
Natural varianti512 – 5121E → D in SPG4. 1 Publication
VAR_027223
Natural varianti512 – 5121Missing in a patient with hereditary spastic paraplegia; unknown pathological significance. 1 Publication
VAR_067574
Natural varianti514 – 5141R → G in SPG4. 1 Publication
VAR_067651
Natural varianti515 – 5151Missing in SPG4. 1 Publication
VAR_019443
Natural varianti534 – 5341L → P in SPG4. 1 Publication
VAR_019444
Natural varianti534 – 5341L → V Found at homozygosity in two children with hereditary spastic paraplegia; unknown pathological significance. 1 Publication
VAR_067575
Natural varianti550 – 5501T → I in a patient with hereditary spastic paraplegia; unknown pathological significance. 1 Publication
VAR_067652
Natural varianti551 – 5511A → Y in SPG4; requires 2 nucleotide substitutions. 1 Publication
VAR_019451
Natural varianti555 – 5551D → N in SPG4. 1 Publication
VAR_027224
Natural varianti556 – 5561A → V in SPG4; promotes microtubule binding and the formation of thick microtubule bundles. 2 Publications
VAR_027225
Natural varianti559 – 5591G → D in SPG4. 2 Publications
VAR_027226
Natural varianti562 – 5621R → G in SPG4. 2 Publications
VAR_027227
Natural varianti562 – 5621R → P in a patient with hereditary spastic paraplegia; unknown pathological significance. 1 Publication
VAR_067576
Natural varianti562 – 5621R → Q in SPG4. 1 Publication
VAR_027228
Natural varianti579 – 5791N → H Found in patients with hereditary spastic paraplegia; unknown pathological significance. 1 Publication
Corresponds to variant rs144594804 [ dbSNP | Ensembl ].
VAR_067653
Natural varianti580 – 5801I → T in SPG4. 1 Publication
VAR_067654
Natural varianti584 – 5841D → H in SPG4. 1 Publication
VAR_010199
Natural varianti607 – 6071W → C in SPG4. 1 Publication
VAR_026763
Natural varianti614 – 6141T → I in SPG4; variant form with congenital arachnoid cysts. 1 Publication
VAR_019445
Natural varianti615 – 615