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

SPAST Gene

protein-coding   GIFtS: 60
GCID: GC02P032288

spastin

(Previous name: spastic paraplegia 4 (autosomal dominant; spastin) )
(Previous symbol: SPG4)
 Explore 25 diseases affiliated with
SPAST via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SPAST    

Aliases
for SPAST gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Spastin1     KIAA10831 3
SPG41 2 3 5     Spastic Paraplegia 4 Protein2 3
ADPSP1 2 3     EC 3.6.4.33
FSP21 2 3     EC 3.6.1.38
Spastic Paraplegia 4 (Autosomal Dominant; Spastin)1 2     

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


Summaries
for SPAST gene

(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:
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)

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)


Genomic Views
for SPAST 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_022184.15  
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 plasmid: SPAST 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

Proteins
for SPAST gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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, 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000340817   ENSP00000320885  

    Human Recombinant Protein Products: 
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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: SPAST
    OriGene Custom Protein Services for SPAST 
    GenScript Custom Purified and Recombinant Proteins Services for SPAST
    Novus Biologicals SPAST Protein
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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 IDA--
    GO:0005768colocalizes with endosome IDA19000169
    GO:0005783colocalizes with endoplasmic reticulum IDA19000169
    GO:0005815microtubule organizing center IEA--


    SPAST for ontologies           About GeneDecksing



    SPAST Antibody Products: 
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    Novus Biologicals SPAST Antibodies
    Search for Antibodies for SPAST at Abcam  
    Uscn Antibodies for SPAST
    ThermoFisher Antibodies for SPAST

    Assay Products for SPAST: 
    Browse Kits and Assays available from EMD Millipore
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    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SPAST
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for SPAST

    Protein Domains /
    Families
    for SPAST gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SPAST for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR003959 ATPase_AAA_core
     IPR003960 ATPase_AAA_CS
     IPR003593 AAA+_ATPase
     IPR007330 MIT
     IPR017179 Spastin

    Graphical View of Domain Structure for InterPro Entry Q9UBP0

    ProtoNet protein and cluster: Q9UBP0

    2 Blocks protein families:
    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


    Function
    for SPAST gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 2): SPAST
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SPAST
    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 plasmid: SPAST 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SPAST (see all 7)
    OriGene shRNA RFP: SPAST
    OriGene siRNA: SPAST
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SPAST

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for SPAST

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SPAST (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SPAST (see all 2)
    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
    Products:             		GenScript Custom overexpressing Cell Line Services for SPAST
    Search LifeMap BioReagents cell lines for SPAST

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

    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
    GO:0008017microtubule binding IDA15716377
    GO:0008568microtubule-severing ATPase activity IDA16219033
    GO:0043014alpha-tubulin binding IPI17389232


    SPAST for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Spasttm1.1Jme for SPAST
         4 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Spast):
     behavior/neurological  nervous system  normal  reproductive system 

    SPAST for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SPAST gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 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): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001578microtubule bundle formation IDA16219033
    GO:0006888ER to Golgi vesicle-mediated transport IMP19000169
    GO:0007049cell cycle IEA--
    GO:0007109cytokinesis, completion of separation IMP19000169
    GO:0007399nervous system development IEA--


    SPAST for ontologies           About GeneDecksing



    Drugs & Compounds
    for SPAST gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for SPAST gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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
    Products:             		 OriGene 3'-UTR Clone (see all 2): SPAST
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SPAST
    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 plasmid: SPAST 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SPAST (see all 7)
    OriGene shRNA RFP: SPAST
    OriGene siRNA: SPAST
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SPAST
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SPAST (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SPAST (see all 2)
    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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPAST
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPAST 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SPAST
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SPAST
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SPAST
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPAST

    Additional cDNA 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):

    CD673687 NM_014946 BM554583 AA814993 AW468223 AW118642 AJ246001 NM_199436 
    W42836 AI619874 BU428777 BU753309 CB243743 BM804275 T34558 AW297314 
    AI377642 AW593691 AA830062 AA721262 BU193776 CB851730 AA171788 CD643088 

    GeneLoc Exon Structure


    Expression
    for SPAST gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTAATATGGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    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

        SABiosciences Custom PCR Arrays for SPAST
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPAST

    Orthologs
    for SPAST gene

    (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 8/30 species (see all 30)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SPAST1 spastin 81.71(n)
    84.84(a)    		   421481  NM_001031061.1  NP_001026232.1 
    lizard
    (Anolis carolinensis)    		 Reptilia SPAST6
    		 --
    		 78(a)
    		 1 ↔ 1
    		 1(235435262-235473606)
    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 
    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
    for SPAST gene

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

    SPAST for paralogs           About GeneDecksing



    Genomic Variants
    for SPAST gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1708 NCBI SNPs in SPAST are shown (see all 1708)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219085151,2
    		C,F,pathogenic32027581(+) CGAGTC/TGCCGC 1 -- int12Minor allele frequency- T:0.00NA EU 4363
    rs1219085171,2
    		Cpathogenic32027584(+) GTCGCC/AGCATA 1 -- int11Minor allele frequency- A:0.00NA 3934
    rs129948691,2
    		C,F,H,--32027028(+) GCTGCC/AGACGT 1 -- int112Minor allele frequency- A:0.08NA NS EA WA 920
    rs1125980641,2
    		--32028194(+) TTCTAG/CCACTG 1 -- us2k11Minor allele frequency- C:0.50CSA 2
    rs784386951,2
    		--32028329(+) GTGACA/GATTTT 1 -- us2k12Minor allele frequency- G:0.04CSA WA 120
    rs22809711,2
    		C,F,--32028929(+) ACCGCG/TCCTGG 1 -- us2k11Minor allele frequency- T:0.06EA 120
    rs777913381,2
    		C,--32029011(+) TTTTTT/AAAAAA 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1120140661,2
    		--32029247(+) AGTATG/TCTGAG 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs2000086521,2
    		C--32029592(+) CCATTC/TTTTTT 1 -- us2k10--------
    rs1466162331,2
    		--32286759(+) TAAGCA/CCAGAG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for SPAST (32288680 - 32382706 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SPAST
         1 CNV: 58981
    Human Gene Mutation Database (HGMD): SPAST

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for SPAST gene

    (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.)
    About This Section
    SPAST for disorders           About GeneDecksing

    OMIM gene information: 604277   
    OMIM disorders: 182601  
    UniProtKB/Swiss-Prot: SPAST_HUMAN, Q9UBP0
  • Defects in SPAST are the cause of spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]. Spastic
    • paraplegia is 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. SPG4 is the most common form of autosomal dominant spastic paraplegias

    20/25 diseases for SPAST (see all 25):    About MalaCards
    spastic paraplegia    paraplegia    spasticity    spastic paraplegia type 4
    amyotrophic lateral sclerosis    hereditary spastic paraplegia    temporal lobe epilepsy    lateral sclerosis
    status epilepticus    arachnoid cysts    bipolar affective disorder    motor neuron disease
    corpus callosum    arachnoiditis    spastic paraparesis    intellectual disability
    cerebellar ataxia    neurodegenerative disease    neurodegeneration    multiple sclerosis

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

    10/15 Novoseek 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
    Spastic Paraplegia 4

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

    Export disorders for SPAST gene to outside databases

    Publications
    for SPAST gene

    (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 191):
    (articles sorted by number of sources associating them with SPAST)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. 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)
    3. 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)
    4. 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)
    5. Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia. (PubMed id 16684598)1, 2, 9 Magariello A....Quattrone A. (2006)
    6. 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)
    7. 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)
    8. Hereditary spastic paraplegia caused by mutations in the SPG4 gene. (PubMed id 11039577)1, 2, 9 Buerger J.... Reis A. (2000)
    9. Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia. (PubMed id 15891913)1, 2, 9 Svenson I.K.... Marchuk D.A. (2005)
    10. Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene. (PubMed id 12552568)1, 2, 9 Proukakis C.... Crosby A.H. (2003)

    External Searches for SPAST gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SPAST gene

    (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

    Other Databases showing SPAST gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1083

    Specialized Databases showing SPAST gene

    (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

    Intellectual Property
    for SPAST gene

    (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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