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    SPAST spastin [ Homo sapiens (human) ]

    Gene ID: 6683, updated on 20-Feb-2017
    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 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]
    Orthologs
    Location:
    2p22.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    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

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA1083

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    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
     
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasmic microtubule organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 
    mitotic cytokinesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitotic spindle disassembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear envelope reassembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cytokinesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein hexamerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    axon cytoplasm 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lipid particle 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 
    microtubule organizing center IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    Preferred Names
    spastin
    Names
    SPAST
    spastic paraplegia 4 (autosomal dominant; spastin)
    spastic paraplegia 4 protein
    NP_055761.2
    NP_955468.1

    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_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 longer transcript, and encodes the longer isoform (1).
      Source sequence(s)
      AA830062, AB029006, AJ246001, BG532310
      Consensus CDS
      CCDS1778.1
      UniProtKB/Swiss-Prot
      Q9UBP0
      UniProtKB/TrEMBL
      E5KRP5
      Related
      ENSP00000480893, ENST00000615843
      Conserved Domains (5) summary
      smart00382
      Location:374510
      AAA; ATPases associated with a variety of cellular activities
      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 ...
      pfam00004
      Location:378508
      AAA; ATPase family associated with various cellular activities (AAA)
      pfam09336
      Location:580612
      Vps4_C; Vps4 C terminal oligomerization domain
      cl21455
      Location:341397
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    2. 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), that is predominantly expressed in the adult spinal cord.
      Source sequence(s)
      AA830062, AB029006, BG532310
      Consensus CDS
      CCDS1779.1
      UniProtKB/Swiss-Prot
      Q9UBP0
      UniProtKB/TrEMBL
      E5KRP6
      Related
      ENSP00000340817, OTTHUMP00000158570, ENST00000345662, OTTHUMT00000250252
      Conserved Domains (5) summary
      smart00382
      Location:342478
      AAA; ATPases associated with a variety of cellular activities
      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 ...
      pfam00004
      Location:346476
      AAA; ATPase family associated with various cellular activities (AAA)
      pfam09336
      Location:548580
      Vps4_C; Vps4 C terminal oligomerization domain
      cl21455
      Location:309365
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 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 (4) summary
      smart00382
      Location:374510
      AAA; ATPases associated with a variety of cellular activities
      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 ...
      pfam00004
      Location:378508
      AAA; ATPase family associated with various cellular activities (AAA)
      cl21455
      Location:341397
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    2. XM_017004778.1XP_016860267.1  spastin isoform X4

    3. XM_017004777.1XP_016860266.1  spastin isoform X2

    4. XM_005264516.4XP_005264573.1  spastin isoform X1

      See identical proteins and their annotated locations for XP_005264573.1

      Conserved Domains (5) summary
      smart00382
      Location:373509
      AAA; ATPases associated with a variety of cellular activities
      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 ...
      pfam00004
      Location:377507
      AAA; ATPase family associated with various cellular activities (AAA)
      pfam09336
      Location:579611
      Vps4_C; Vps4 C terminal oligomerization domain
      cl21455
      Location:340396
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      32218851..32312626
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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