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SPAST Gene

protein-coding   GIFtS: 62
GCID: GC02P032288

Spastin

(Previous name: spastic paraplegia 4 (autosomal dominant; spastin))
(Previous symbol: SPG4)
  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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 spastic paraplegia 4, 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NT_022184.16  NC_018913.2  
Regulatory elements:
   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 Chromatin IP Primers for SPAST

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SPAST_HUMAN, Q9UBP0 (See protein sequence)
Recommended Name: Spastin  
Size: 616 amino acids; 67197 Da
Subunit: 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
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for SPAST (Q9UBP0) (see all 26)
     LTSKYVG  LQAKMMT  KRVYVSL  SNSLPRSK 


    See SPAST Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000340817   ENSP00000320885  

    SPAST Human Recombinant Protein Products:

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    OriGene Custom MassSpec
    OriGene Custom Protein Services 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

    SPAST Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SPAST
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    Abcam antibodies for SPAST
    Cloud-Clone Corp. Antibodies for SPAST
    ThermoFisher Antibodies for SPAST
    LSBio Antibodies in human, mouse, rat for SPAST

    SPAST Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SPAST
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SPAST
    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)
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    HGNC Gene Families:
    AATP: ATPases / AAA-type

    Selected 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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
    Enzyme regulation: 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
    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. 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 (PubMed:22637577);

         Enzyme Numbers (IUBMB): EC 3.6.1.32 EC 3.6.4.31

         Gene Ontology (GO): Selected molecular function terms (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: Let us create your new Knockout/Knockin mouse model for SPAST
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
    Products:
        
    miRTarBase miRNAs that target SPAST:
    hsa-mir-132-3p (MIRT021774)

    Block miRNA regulation of human, mouse, rat SPAST using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for SPAST
    Predesigned siRNA for gene silencing in human, mouse, rat SPAST

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for SPAST
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    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
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPAST

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for SPAST
    Browse ESI BIO Cell Lines and PureStem Progenitors for SPAST 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPAST


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SPAST_HUMAN, Q9UBP0: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    endoplasmic reticulum5
    endosome5
    nucleus5
    cytosol3
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 13):    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


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SPAST
    Interactions:

        GeneGlobe Interaction Network for SPAST

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SPAST (Q9UBP03 ENSP000003208854) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    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
    SUMO1ENSP000003760764STRING: ENSP00000376076
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001578microtubule bundle formation IDA16219033
    GO:0006200ATP catabolic process IDA15716377
    GO:0006281DNA repair ----
    GO:0006310DNA recombination ----
    GO:0006888ER to Golgi vesicle-mediated transport IMP19000169

    SPAST for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    SPAST for compounds           About GeneDecksing



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
    Products:
         
    Block miRNA regulation of human, mouse, rat SPAST using miScript Target Protectors
    Selected qRT-PCR 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
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SPAST (NM_014946)
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      QuantiTect SYBR Green Assays in human, mouse, rat SPAST
      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 

    Selected AceView cDNA sequences (see all 74):

    AI619874 CB243743 AA830062 AW468223 AA814993 T34558 W42836 BU193776 
    CD673687 BM804275 AA721262 AW118642 BM554583 AW593691 NM_014946 AI377642 
    BU753309 BU428777 AJ246001 AW297314 NM_199436 CB851730 AA082664 BV194337 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SPAST expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Thymus (Hematopoietic System)
             Thymus
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Kidney (Urinary System)
             Metanephros
    SPAST Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPAST Protein Expression

    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
    Assay Products:
     

     
    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SPAST gene from Selected 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 89.12(n)1
    94.39(a)1
      17 (45.64 cM)5
    508501  NM_001162870.11  NP_001156342.11 
     743389875 
    chicken
    (Gallus gallus)
    Aves SPAST1 spastin 83.1(n)
    86.65(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 64.98(n)
    69.48(a)
      405851  NM_212915.1  NP_998080.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta spas1 spastin 53.26(n)
    57.53(a)
      42846  NM_142949.4  NP_651206.3 
    worm
    (Caenorhabditis elegans)
    Secernentea spas-11 spas-1 54.27(n)
    49.69(a)
      179300  NM_171501.4  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 AT2G45500 53.67(n)
    48.1(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)
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    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SPAST (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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • Selected diseases for SPAST (see all 33):    
    About MalaCards
    spastic paraplegia 4    paraplegia    spasticity    hereditary spastic paraplegia
    arachnoid cysts    arachnoiditis    motor neuron disease    status epilepticus
    lateral sclerosis    spastic paraparesis    mitochondrial disorders    cerebellar ataxia
    temporal lobe epilepsy    peripheral neuropathy    amyotrophic lateral sclerosis    intellectual disability
    dementia    neuropathy    ataxia    labyrinthitis

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

    SPAST for disorders           About GeneDecksing

    Selected 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)
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    PubMed articles for SPAST gene, integrated from 10 sources (see all 207):
    (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. (Arch. Neurol. 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. (Arch. Neurol. 2004)
    3. Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements. (PubMed id 20214791)1, 2, 4 Braschinsky M....Haldre S. (BMC Neurol. 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. (Eur. J. Neurol. 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. (Nat. Genet. 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. (BMC Biol. 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. (Hum. Mol. Genet. 2002)
    8. Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia. (PubMed id 16684598)1, 2, 9 Magariello A....Quattrone A. (Neuromuscul. Disord. 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. (Exp. Cell Res. 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. (Hum. Mol. Genet. 2004)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (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)
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    Entrez Gene: 6683 HGNC: 11233 AceView: SPG4 Ensembl:ENSG00000021574 euGenes: HUgn6683
    ECgene: SPAST H-InvDB: SPAST

    (According to HUGE)
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    HUGE: KIAA1083

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SPAST Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SPAST[genesymbol]
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/104

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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