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    SPAST spastin [ Homo sapiens (human) ]

    Gene ID: 6683, updated on 12-Aug-2018

    Summary

    Official Symbol
    SPASTprovided by HGNC
    Official Full Name
    spastinprovided by HGNC
    Primary source
    HGNC:HGNC:11233
    See related
    Ensembl:ENSG00000021574 MIM:604277; Vega:OTTHUMG00000128455
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FSP2; SPG4; ADPSP
    Summary
    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 use of alternative translational initiation sites in this gene results in a single transcript variant that can produce isoforms that differ in the length of their N-terminus and which thereby differ in the efficiency of their export from the nucleus to the cytoplasm. In addition, alternative splicing results in multiple transcript variants that encode isoforms that differ in other protein regions as well. One isoform of this gene has been shown to be a microtubule-severing enzyme that regulates microtubule abundance, mobility, and plus-end distribution. Mutations in this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. [provided by RefSeq, May 2018]
    Expression
    Ubiquitous expression in brain (RPKM 7.7), testis (RPKM 5.2) and 25 other tissues See more
    Orthologs

    Genomic context

    See SPAST in Genome Data Viewer
    Location:
    2p22.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (32063551..32157637)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (32288660..32382706)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene mediator of cell motility 1 Neighboring gene dpy-30, histone methyltransferase complex regulatory subunit Neighboring gene solute carrier family 30 member 6 Neighboring gene DEAD-box helicase 50 pseudogene 1 Neighboring gene RNA, U6 small nuclear 647, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Spastic paraplegia 4, autosomal dominant
    MedGen: C1866855 OMIM: 182601 GeneReviews: Spastic Paraplegia 4
    Compare labs

    NHGRI GWAS Catalog

    Description
    Novel gene variants predict serum levels of the cytokines IL-18 and IL-1ra in older adults.
    NHGRI GWA Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of spastin (SPAST) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA1083

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    alpha-tubulin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    beta-tubulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    beta-tubulin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    microtubule binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microtubule-severing ATPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    microtubule-severing ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein-containing complex binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    ER to Golgi vesicle-mediated transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    anterograde axonal transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    axonal transport of mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    axonogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    cytokinetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cytoplasmic microtubule organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoskeleton-dependent cytokinesis TAS
    Traceable Author Statement
    more info
    PubMed 
    exit from mitosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    membrane fission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    microtubule bundle formation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microtubule severing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microtubule severing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    microtubule severing TAS
    Traceable Author Statement
    more info
    PubMed 
    mitotic cytokinesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitotic spindle disassembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nuclear envelope reassembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cytokinesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of microtubule depolymerization IEA
    Inferred from Electronic Annotation
    more info
     
    protein hexamerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    colocalizes_with ESCRT III complex TAS
    Traceable Author Statement
    more info
    PubMed 
    axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    centrosome IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    colocalizes_with endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    colocalizes_with endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome HDA PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    lipid droplet IEA
    Inferred from Electronic Annotation
    more info
     
    microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    colocalizes_with microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    midbody IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with midbody IDA
    Inferred from Direct Assay
    more info
    PubMed 
    midbody IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nuclear membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    spindle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    spastin
    Names
    spastic paraplegia 4 (autosomal dominant; spastin)
    spastic paraplegia 4 protein
    NP_055761.2
    NP_955468.1
    XP_005264573.1
    XP_011531369.1
    XP_016860266.1
    XP_016860267.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008730.1 RefSeqGene

      Range
      5001..99027
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_714

    mRNA and Protein(s)

    1. NM_001363823.1NP_001350752.1  spastin isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, which results in a shorter isoform (3), compared to isoform 1. This variant is also predicted to use an alternate, in-frame, downstream translation initiation site to encode an even shorter isoform.
      Source sequence(s)
      AL121655, AL121658
      Conserved Domains (2) summary
      COG0464
      Location:310596
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
      cd02679
      Location:116194
      MIT_spastin; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This MIT domain sub-family is found in the AAA protein spastin, a probable ATPase involved in the assembly or function of nuclear protein complexes; spastins might also be ...
    2. NM_001363875.1NP_001350804.1  spastin isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has multiple differences in the coding region, compared to variant 1. It encodes a shorter isoform (4), compared to isoform 1. This variant is also predicted to use an alternate, in-frame, downstream translation initiation site to encode an even shorter isoform.
      Source sequence(s)
      AL121655, AL121658
      Consensus CDS
      CCDS86830.1
      Conserved Domains (2) summary
      COG0464
      Location:278564
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
      cd02679
      Location:116194
      MIT_spastin; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This MIT domain sub-family is found in the AAA protein spastin, a probable ATPase involved in the assembly or function of nuclear protein complexes; spastins might also be ...
    3. NM_014946.3NP_055761.2  spastin isoform 1

      See identical proteins and their annotated locations for NP_055761.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1; also known as M1). It also encodes a shorter isoform (M87) from an alternate, in-frame, downstream translation initiation site.
      Source sequence(s)
      AA830062, AB029006, AJ246001, BG532310
      Consensus CDS
      CCDS1778.1
      UniProtKB/Swiss-Prot
      Q9UBP0
      UniProtKB/TrEMBL
      E5KRP5
      Related
      ENSP00000480893.1, ENST00000615843.4
      Conserved Domains (2) summary
      COG0464
      Location:311597
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
      cd02679
      Location:116195
      MIT_spastin; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This MIT domain sub-family is found in the AAA protein spastin, a probable ATPase involved in the assembly or function of nuclear protein complexes; spastins might also be ...
    4. NM_199436.1NP_955468.1  spastin isoform 2

      See identical proteins and their annotated locations for NP_955468.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame segment of the coding region, compared to variant 1. It encodes a shorter isoform (2), compared to isoform 1. This variant is also predicted to use an alternate, in-frame, downstream translation initiation site to encode an even shorter isoform.
      Source sequence(s)
      AA830062, AB029006, BG532310
      Consensus CDS
      CCDS1779.1
      UniProtKB/Swiss-Prot
      Q9UBP0
      UniProtKB/TrEMBL
      E5KRP6
      Related
      ENSP00000495015.1, OTTHUMP00000158570, ENST00000646571.1, OTTHUMT00000250252
      Conserved Domains (2) summary
      COG0464
      Location:279565
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
      cd02679
      Location:116195
      MIT_spastin; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This MIT domain sub-family is found in the AAA protein spastin, a probable ATPase involved in the assembly or function of nuclear protein complexes; spastins might also be ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

      Range
      32063551..32157637
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533067.2XP_011531369.1  spastin isoform X3

      See identical proteins and their annotated locations for XP_011531369.1

      Conserved Domains (2) summary
      COG0464
      Location:311547
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
      cd02679
      Location:116195
      MIT_spastin; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This MIT domain sub-family is found in the AAA protein spastin, a probable ATPase involved in the assembly or function of nuclear protein complexes; spastins might also be ...
    2. XM_017004778.2XP_016860267.1  spastin isoform X4

      Related
      ENSP00000495478.1, ENST00000642751.1
    3. XM_017004777.2XP_016860266.1  spastin isoform X2

      Related
      ENSP00000493827.1, ENST00000642455.1
      Conserved Domains (2) summary
      COG0464
      Location:278564
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
      cd02679
      Location:116194
      MIT_spastin; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This MIT domain sub-family is found in the AAA protein spastin, a probable ATPase involved in the assembly or function of nuclear protein complexes; spastins might also be ...
    4. XM_005264516.5XP_005264573.1  spastin isoform X1

      See identical proteins and their annotated locations for XP_005264573.1

      Related
      ENSP00000482496.2, ENST00000621856.2
      Conserved Domains (2) summary
      COG0464
      Location:310596
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
      cd02679
      Location:116194
      MIT_spastin; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This MIT domain sub-family is found in the AAA protein spastin, a probable ATPase involved in the assembly or function of nuclear protein complexes; spastins might also be ...
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