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    SPAST spastin [ Homo sapiens (human) ]

    Gene ID: 6683, updated on 10-Dec-2024

    Summary

    Official Symbol
    SPASTprovided by HGNC
    Official Full Name
    spastinprovided by HGNC
    Primary source
    HGNC:HGNC:11233
    See related
    Ensembl:ENSG00000021574 MIM:604277; AllianceGenome:HGNC:11233
    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
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    Genomic context

    See SPAST in Genome Data Viewer
    Location:
    2p22.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (32063556..32157637)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (32111981..32206198)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (32288625..32382706)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr2:32111667-32112574 Neighboring gene mediator of cell motility 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11332 Neighboring gene MPRA-validated peak3645 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:32209277-32209778 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:32209779-32210278 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:32225693-32226193 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11333 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11334 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11335 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11336 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:32236012-32236171 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15555 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15556 Neighboring gene dpy-30 histone methyltransferase complex regulatory subunit Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15557 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:32288537-32289337 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11339 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:32392253-32392769 Neighboring gene SLC30A6 divergent transcript Neighboring gene MPRA-validated peak3647 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15558 Neighboring gene solute carrier family 30 member 6 Neighboring gene DEAD-box helicase 50 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (26 hits/1269 screens)

    Associated conditions

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2019-09-25)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2019-09-25)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • KIAA1083

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding  
    enables ATP hydrolysis activity  
    enables alpha-tubulin binding PubMed 
    enables beta-tubulin binding PubMed 
    enables beta-tubulin binding PubMed 
    enables isomerase activity  
    enables microtubule binding PubMed 
    enables microtubule severing ATPase activity PubMed 
    enables microtubule severing ATPase activity  
    enables protein binding PubMed 
    enables protein-containing complex binding PubMed 
    Process Evidence Code Pubs
    involved_in anterograde axonal transport  
    involved_in axonal transport of mitochondrion  
    involved_in axonogenesis  
    involved_in cytokinetic process PubMed 
    involved_in cytoskeleton-dependent cytokinesis PubMed 
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport PubMed 
    involved_in exit from mitosis PubMed 
    involved_in membrane fission PubMed 
    involved_in microtubule bundle formation PubMed 
    involved_in microtubule severing PubMed 
    involved_in microtubule severing PubMed 
    involved_in microtubule severing PubMed 
    involved_in mitotic cytokinesis PubMed 
    involved_in mitotic nuclear membrane reassembly  
    involved_in mitotic spindle disassembly PubMed 
    involved_in nuclear membrane reassembly PubMed 
    involved_in positive regulation of cytokinesis PubMed 
    involved_in positive regulation of microtubule depolymerization  
    involved_in protein hexamerization PubMed 
    involved_in protein homooligomerization PubMed 
    Items 1 - 20 of 24
    Component Evidence Code Pubs
    located_in axon PubMed 
    located_in axon cytoplasm  
    located_in centrosome PubMed 
    located_in cytoplasm PubMed 
    located_in cytoplasmic vesicle PubMed 
    located_in cytosol  
    located_in cytosol  
    colocalizes_with endoplasmic reticulum PubMed 
    located_in endoplasmic reticulum membrane  
    located_in endoplasmic reticulum tubular network PubMed 
    colocalizes_with endosome PubMed 
    located_in extracellular exosome PubMed 
    located_in lipid droplet  
    located_in microtubule  
    colocalizes_with microtubule cytoskeleton PubMed 
    colocalizes_with midbody PubMed 
    located_in midbody PubMed 
    located_in midbody PubMed 
    located_in nuclear membrane PubMed 
    located_in nuclear membrane PubMed 
    located_in nucleoplasm  
    located_in nucleus PubMed 
    located_in perinuclear region of cytoplasm PubMed 
    located_in spindle pole PubMed 
    Items 1 - 20 of 24

    General protein information

    Preferred Names
    spastin
    Names
    spastic paraplegia 4 (autosomal dominant; spastin)
    spastic paraplegia 4 protein
    NP_001350752.1
    NP_001350804.1
    NP_001364888.1
    NP_055761.2
    NP_955468.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001363823.2 → NP_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
      Consensus CDS
      CCDS92732.1
      UniProtKB/TrEMBL
      A0A2R8Y481, A0A2U3TZR0
      Related
      ENSP00000482496.2, ENST00000621856.2
      Conserved Domains (4) summary
      cd02679
      Location:116 → 194
      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 ...
      pfam09336
      Location:579 → 611
      Vps4_C; Vps4 C terminal oligomerization domain
      pfam17862
      Location:532 → 586
      AAA_lid_3; AAA+ lid domain
      cd19524
      Location:342 → 505
      RecA-like_spastin; ATPase domain of spastin
    2. NM_001363875.2 → NP_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
      UniProtKB/TrEMBL
      A0A2R8Y481, A0A2R8Y4I8
      Related
      ENSP00000493827.1, ENST00000642455.1
      Conserved Domains (4) summary
      cd02679
      Location:116 → 194
      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 ...
      pfam09336
      Location:547 → 579
      Vps4_C; Vps4 C terminal oligomerization domain
      pfam17862
      Location:500 → 554
      AAA_lid_3; AAA+ lid domain
      cd19524
      Location:310 → 473
      RecA-like_spastin; ATPase domain of spastin
    3. NM_001377959.1 → NP_001364888.1  spastin isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL121655, AL121658
      UniProtKB/TrEMBL
      A0A2R8Y5N9, A0A2R8YFW8
      Related
      ENSP00000495478.2, ENST00000642751.2
      Conserved Domains (2) summary
      cd02679
      Location:116 → 195
      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 ...
      cd19524
      Location:311 → 474
      RecA-like_spastin; ATPase domain of spastin
    4. NM_014946.4 → NP_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)
      AJ246001, AL121655, AL121658
      Consensus CDS
      CCDS1778.1
      UniProtKB/Swiss-Prot
      A7E2A7, Q9UBP0, Q9UPR9
      UniProtKB/TrEMBL
      A0A2R8Y481, E5KRP5
      Related
      ENSP00000320885.3, ENST00000315285.9
      Conserved Domains (4) summary
      cd02679
      Location:116 → 195
      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 ...
      pfam09336
      Location:580 → 612
      Vps4_C; Vps4 C terminal oligomerization domain
      pfam17862
      Location:533 → 587
      AAA_lid_3; AAA+ lid domain
      cd19524
      Location:343 → 506
      RecA-like_spastin; ATPase domain of spastin
    5. NM_199436.2 → NP_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)
      AL121655, AL121658, BC150260
      Consensus CDS
      CCDS1779.1
      UniProtKB/TrEMBL
      A0A2R8Y481, E5KRP6
      Related
      ENSP00000495015.1, ENST00000646571.1
      Conserved Domains (4) summary
      cd02679
      Location:116 → 195
      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 ...
      pfam09336
      Location:548 → 580
      Vps4_C; Vps4 C terminal oligomerization domain
      pfam17862
      Location:501 → 555
      AAA_lid_3; AAA+ lid domain
      cd19524
      Location:311 → 474
      RecA-like_spastin; ATPase domain of spastin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      32063556..32157637
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      32111981..32206198
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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