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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SPAST Gene

protein-coding   GIFtS: 62
GCID: GC02P032288

Spastin

(Previous name: spastic paraplegia 4 (autosomal dominant; spastin))
(Previous symbol: SPG4)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
spastin1 2     FSP22 3
SPG41 2 3 5     EC 3.6.4.33
Spastic Paraplegia 4 (Autosomal Dominant; Spastin)1 2     KIAA10833
Spastic Paraplegia 4 Protein2 3     EC 3.6.1.38
ADPSP2 3     

External Ids:    HGNC: 112331   Entrez Gene: 66832   Ensembl: ENSG000000215747   OMIM: 6042775   UniProtKB: Q9UBP03   

Export aliases for SPAST gene to outside databases

Previous GC identifers: GC02P032201 GC02P032142 GC02P032027


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SPAST Gene:
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. (provided by RefSeq, Jul 2008)

GeneCards Summary for SPAST Gene: 
SPAST (spastin) is a protein-coding gene. Diseases associated with SPAST include spasticity, and paraplegia. GO annotations related to this gene include microtubule binding and alpha-tubulin binding. An important paralog of this gene is IQCA1.

UniProtKB/Swiss-Prot: SPAST_HUMAN, Q9UBP0
Function: 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

Gene Wiki entry for SPAST (Spastin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022184.15  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SPAST gene promoter:
         HOXA9   Brachyury   Egr-1   p300   STAT5A   Arnt   GATA-1   Max   IRF-7A   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPAST promoter sequence
   Search SABiosciences Chromatin IP Primers for SPAST

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPAST


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p24-p21   Ensembl cytogenetic band:  2p22.3   HGNC cytogenetic band: 2p24-p21

SPAST Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPAST gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P032288:  view genomic region     (about GC identifiers)

Start:
32,288,680 bp from pter      End:
32,382,706 bp from pter
Size:
94,027 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SPAST_HUMAN, Q9UBP0 (See protein sequence)
Recommended Name: Spastin  
Size: 616 amino acids; 67197 Da
Subunit: Homohexamer. Binding to ATP stabilizes the homohexameric form. Binds to microtubules at least in part via
the alpha-tubulin and beta-tubulin tails. The hexamer may adopt 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
Subcellular location: Membrane; Single-pass membrane protein (Potential). Cytoplasm, cytoskeleton, microtubule
organizing center, centrosome. Cytoplasm, cytoskeleton. Cytoplasm, perinuclear region. Endoplasmic reticulum.
Endosome. Nucleus. Cytoplasm, cytoskeleton, spindle. 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
Developmental stage: Expressed in fetal brain, heart, kidney, liver, lung, skeletal muscle, spleen and thymus
2 PDB 3D structures from and Proteopedia for SPAST:
3EAB (3D)        3VFD (3D)    
Secondary accessions: A7E2A7 Q9UPR9
Alternative promoter usage, Alternative splicing, Alternative initiation: 4 isoforms:  Q9UBP0-1   Q9UBP0-2   Q9UBP0-3   Q9UBP0-4   (Produced by alternative promoter usage and alternative splicing. May also be produced by alternative initiation at Met-87 of isoform 2)

Explore the universe of human proteins at neXtProt for SPAST: NX_Q9UBP0

Explore proteomics data for SPAST at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UBP0

  • 4/26 DME Specific Peptides for SPAST (Q9UBP0) (see all 26)
     LTSKYVG  LQAKMMT  KRVYVSL  SNSLPRSK 

    SPAST Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SPAST Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_055761.2  NP_955468.1  

    ENSEMBL proteins: 
     ENSP00000340817   ENSP00000320885  

    Human Recombinant Protein Products for SPAST: 
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    OriGene Protein Over-expression Lysate for SPAST
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    Novus Biologicals SPAST Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SPAST 

    Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA16026783
    GO:0005737cytoplasm IDA16026783
    GO:0005768colocalizes with endosome IDA19000169
    GO:0005783colocalizes with endoplasmic reticulum IDA19000169
    GO:0005813centrosome IEA--

    SPAST for ontologies           About GeneDecksing



    SPAST Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for SPAST 

    Assay Products for SPAST: 
    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SPAST 
    Cloud-Clone Corp. CLIAs for SPAST


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    AATP: ATPases / AAA-type

    5/6 InterPro protein domains (see all 6):
     IPR003959 ATPase_AAA_core
     IPR003960 ATPase_AAA_CS
     IPR027417 P-loop_NTPase
     IPR003593 AAA+_ATPase
     IPR007330 MIT

    Graphical View of Domain Structure for InterPro Entry Q9UBP0

    ProtoNet protein and cluster: Q9UBP0

    2 Blocks protein domains:
    IPB003960 AAA-protein subdomain
    IPB007330 MIT


    UniProtKB/Swiss-Prot: SPAST_HUMAN, Q9UBP0
    Similarity: Belongs to the AAA ATPase family. Spastin subfamily
    Similarity: Contains 1 MIT domain


    SPAST for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SPAST_HUMAN, Q9UBP0
    Function: 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
    Catalytic activity: ATP + H(2)O = ADP + phosphate
    Biophysicochemical properties: Kinetic parameters: KM=0.45 mM for ATP; Vmax=1.2 nmol/min/ug enzyme; Note=Kinetic
    parameters shown are for full length enzyme;

         Enzyme Numbers (IUBMB): EC 3.6.1.32 EC 3.6.4.31

         Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005515protein binding IPI16815977
    GO:0005524ATP binding IEA--
    GO:0008017microtubule binding IDA15716377
    GO:0008568microtubule-severing ATPase activity IDA15716377
         
    SPAST for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for SPAST:
     Decreased p24 protein expressi  Increased G1 DNA content  Synthetic lethal with Ras  Upregulation of Wnt/beta-caten 

         4 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Spast):
     behavior/neurological  nervous system  normal  reproductive system 

    SPAST for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SPAST: Spasttm1Jfnk Spasttm1.1Jme

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SPAST 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SPAST

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SPAST 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SPAST 

    miRNA
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    8/57 QIAGEN miScript miRNA Assays for microRNAs that regulate SPAST (see all 57):
    hsa-miR-579 hsa-miR-3607-3p hsa-miR-429 hsa-miR-300 hsa-miR-29a hsa-miR-30d hsa-miR-218 hsa-miR-3142
    SwitchGear 3'UTR luciferase reporter plasmidSPAST 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): SPAST (NM_014946)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPAST
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPAST


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SPAST

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/6 Interacting proteins for SPAST (Q9UBP03 ENSP000003208854) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IST1P539903, ENSP000003304084I2D: score=5 STRING: ENSP00000330408
    SSNA1O438053, ENSP000003137524I2D: score=1 STRING: ENSP00000313752
    RTN1Q167993, ENSP000002674844I2D: score=1 STRING: ENSP00000267484
    ALBP027683, ENSP000002958974I2D: score=1 STRING: ENSP00000295897
    C10orf2ENSP000003095954STRING: ENSP00000309595
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001578microtubule bundle formation IDA16219033
    GO:0006281DNA repair ----
    GO:0006310DNA recombination ----
    GO:0006888ER to Golgi vesicle-mediated transport IMP19000169
    GO:0007109cytokinesis, completion of separation IMP19000169

    SPAST for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SPAST for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SPAST

    1 Novoseek inferred chemical compound relationship for SPAST gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atp 0 1 17178905 (1)

    Search CenterWatch for drugs/clinical trials and news about SPAST

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SPAST gene (2 alternative transcripts): 
    NM_014946.3  NM_199436.1  

    Unigene Cluster for SPAST:

    Spastin
    Hs.468091  [show with all ESTs]
    Unigene Representative Sequence: NM_014946
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000345662(uc002rod.3) ENST00000315285(uc002roc.3)

    miRNA
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    8/57 QIAGEN miScript miRNA Assays for microRNAs that regulate SPAST (see all 57):
    hsa-miR-579 hsa-miR-3607-3p hsa-miR-429 hsa-miR-300 hsa-miR-29a hsa-miR-30d hsa-miR-218 hsa-miR-3142
    SwitchGear 3'UTR luciferase reporter plasmidSPAST 3' UTR sequence
    Inhib. RNA
    Products:
         
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SPAST
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPAST

    Additional mRNA sequence: 

    AB029006.1 AJ246001.1 AK304135.1 BC150260.1 

    5 DOTS entries:

    DT.411802  DT.91749852  DT.91969104  DT.95069097  DT.120971422 

    24/74 AceView cDNA sequences (see all 74):

    AW468223 BU193776 AW297314 CB851730 AI377642 AA814993 AA721262 CB243743 
    T34558 NM_199436 NM_014946 BM804275 AJ246001 BU753309 BU428777 BM554583 
    AW118642 AA830062 AW593691 AI619874 W42836 CD673687 F00373 BG532310 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SPAST expression in normal human tissues (normalized intensities)      SPAST embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAATATGGC
    SPAST Expression
    About this image


    SPAST expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/42 selected tissues (see all 42) fully expand
     
     Brain (Nervous System)    fully expand to see all 15 entries
             Thalamus
             superior temporal gyrus   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             neutrophils   

    See SPAST Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPAST

    SOURCE GeneReport for Unigene cluster: Hs.468091

    UniProtKB/Swiss-Prot: SPAST_HUMAN, Q9UBP0
    Tissue specificity: Expressed in brain, heart, kidney, liver, lung, pancreas, placenta and skeletal muscle. The
    short isoforms may predominate in brain and spinal cord

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPAST

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SPAST gene from 10/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spast1 , 5 spastin1, 5 88.74(n)1
    92.82(a)1
      17 (45.64 cM)5
    508501  NM_016962.21  NP_058658.21 
     743389875 
    chicken
    (Gallus gallus)
    Aves SPAST1 spastin 81.71(n)
    84.84(a)
      421481  NM_001031061.1  NP_001026232.1 
    lizard
    (Anolis carolinensis)
    Reptilia SPAST6
    spastin
    76(a)
    1 ↔ 1
    1(235431181-235473606)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.324262 Xenopus laevis transcribed sequence with moderate similarity more 78.53(n)    BJ042345.1 
    zebrafish
    (Danio rerio)
    Actinopterygii spast1 spastin 63.82(n)
    67.45(a)
      405851  NM_212915.1  NP_998080.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta spas1 spastin 51.1(n)
    53.48(a)
      42846  NM_170115.2  NP_732941.2 
    worm
    (Caenorhabditis elegans)
    Secernentea spas-11 Protein SPAS-1 54.27(n)
    49.69(a)
      179300  NM_171501.3  NP_741586.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SAP1(YER047C)4 Putative ATPase of the AAA family, interacts with the more   --   5(246503-243810) 856771  NP_010966.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G455001 AAA-type ATPase-like protein 53.3(n)
    47.62(a)
      819158  NM_130112.4  NP_182074.4 
    rice
    (Oryza sativa)
    Liliopsida Os.42922 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 79.05(n)    AK064427.1 


    ENSEMBL Gene Tree for SPAST (if available)
    TreeFam Gene Tree for SPAST (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SPAST gene
    IQCA12  FIGNL12  FIGN2  
    5 SIMAP similar genes for SPAST using alignment to 3 protein entries:     SPAST_HUMAN (see all proteins):
    VPS4B    FIGNL1    KATNAL1    KATNA1    FIGN

    SPAST for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2145 SNPs in SPAST are shown (see all 2145)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0676364
    Spastic paraplegia 4, autosomal dominant (SPG4)4--see VAR_0676362 R T mis40--------
    VAR_0194524
    Spastic paraplegia 4, autosomal dominant (SPG4)4--see VAR_0194522 T I mis40--------
    VAR_0267624
    Spastic paraplegia 4, autosomal dominant (SPG4)4--see VAR_0267622 R W mis40--------
    VAR_0272214
    Spastic paraplegia 4, autosomal dominant (SPG4)4--see VAR_0272212 A V mis40--------
    VAR_0272094
    Spastic paraplegia 4, autosomal dominant (SPG4)4--see VAR_0272092 F C mis40--------
    VAR_0267604
    Spastic paraplegia 4, autosomal dominant (SPG4)4--see VAR_0267602 D G mis40--------
    VAR_0272164
    Spastic paraplegia 4, autosomal dominant (SPG4)4--see VAR_0272162 D G mis40--------
    VAR_0267634
    Spastic paraplegia 4, autosomal dominant (SPG4)4--see VAR_0267632 W C mis40--------
    VAR_0194404
    Spastic paraplegia 4, autosomal dominant (SPG4)4--see VAR_0194402 N S mis40--------
    VAR_0676424
    Spastic paraplegia 4, autosomal dominant (SPG4)4--see VAR_0676422 S R mis40--------

    HapMap Linkage Disequilibrium report for SPAST (32288680 - 32382706 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for SPAST:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2659839CNV Deletion23128226
    esv2668359CNV Deletion23128226
    nsv873778CNV Loss21882294
    nsv873779CNV Loss21882294
    nsv833670CNV Loss17160897
    nsv828698CNV Gain20364138
    nsv820001CNV Gain19587683


    Human Gene Mutation Database (HGMD): SPAST
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SPAST
    DNA2.0 Custom Variant and Variant Library Synthesis for SPAST

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604277   
    OMIM disorders: 182601  
    UniProtKB/Swiss-Prot: SPAST_HUMAN, Q9UBP0
  • 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

  • 20/23 diseases for SPAST (see all 23):    About MalaCards
    spasticity    paraplegia    spastic paraplegia type 4    hereditary spastic paraplegia
    arachnoid cysts    arachnoiditis    motor neuron disease    status epilepticus
    lateral sclerosis    spastic paraparesis    mitochondrial disorders    cerebellar ataxia
    temporal lobe epilepsy    intellectual disability    amyotrophic lateral sclerosis    dementia
    peripheral neuropathy    ataxia    mental retardation    neuropathy

    1 disease from the University of Copenhagen DISEASES database for SPAST:
    Paraplegia

    SPAST for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/15 Novoseek inferred disease relationships for SPAST gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    spastic paraplegia hereditary autosomal dominant 98.4 26 16684598 (2), 17035675 (2), 15482961 (1), 11809724 (1) (see all 20)
    spastic paraplegia hereditary 98.2 71 16009377 (2), 12676568 (2), 18701882 (2), 18202664 (2) (see all 49)
    spg3a 96.2 32 18664244 (5), 19423133 (4), 16009769 (3), 16682546 (2) (see all 12)
    spastic paraplegia 91.9 32 16055926 (3), 19875132 (3), 16684598 (2), 20154342 (2) (see all 16)
    neurodegenerative diseases 71.9 6 16276409 (1), 20154342 (1), 18613979 (1), 20209135 (1) (see all 5)
    primary lateral sclerosis 53.4 2 16240363 (2)
    molecular pathology 30.1 1 12939659 (1)
    motor neuron disease 25.9 1 15079007 (1)
    amyotrophic lateral sclerosis 17.4 1 16240363 (1)
    neurodegeneration 9.32 2 15248095 (1), 12908108 (1)

    GeneTests: SPAST
    GeneReviews: SPAST
    Genetic Association Database (GAD): SPAST
    Human Genome Epidemiology (HuGE) Navigator: SPAST (11 documents)

    Export disorders for SPAST gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SPAST gene, integrated from 9 sources (see all 200):
    (articles sorted by number of sources associating them with SPAST)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia. (PubMed id 16682546)1, 2, 4, 9 Crippa F.... Bassi M.T. (2006)
    2. Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia. (PubMed id 14732620)1, 2, 4, 9 Tang B.... Jiang H. (2004)
    3. Unique spectrum of SPAST variants in Estonian HSP pat ients: presence of benign missense changes but lack of exonic rearrangements. (PubMed id 20214791)1, 2, 4 Braschinsky M....Haldre S. (2010)
    4. Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia. (PubMed id 17594340)1, 2, 4 Erichsen A.K....Tallaksen C.M. (2007)
    5. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. (PubMed id 10610178)1, 2, 3 Hazan J....Weissenbach J. (1999)
    6. A cryptic promoter in the first exon of the SPG4 gene directs the synthesis of the 60-kDa spastin isoform. (PubMed id 18613979)1, 2, 9 Mancuso G. and Rugarli E.I. (2008)
    7. Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. (PubMed id 11809724)1, 2, 9 Errico A.... Rugarli E.I. (2002)
    8. Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia. (PubMed id 16684598)1, 2, 9 Magariello A....Quattrone A. (2006)
    9. Spastin subcellular localization is regulated through usage of different translation start sites and active export from the nucleus. (PubMed id 16026783)1, 2, 9 Claudiani P....Rugarli E.I. (2005)
    10. Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon. (PubMed id 15269182)1, 2, 9 Errico A....Rugarli E.I. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6683 HGNC: 11233 AceView: SPG4 Ensembl:ENSG00000021574 euGenes: HUgn6683
    ECgene: SPAST H-InvDB: SPAST

    (According to HUGE)
    About This Section
    HUGE: KIAA1083

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SPAST Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SPAST
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/sptlt104.shtml

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SPAST gene:
    Search GeneIP for patents involving SPAST

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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