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Spast spastin [ Mus musculus (house mouse) ]

Gene ID: 50850, updated on 28-Oct-2024

Summary

Official Symbol
Spastprovided by MGI
Official Full Name
spastinprovided by MGI
Primary source
MGI:MGI:1858896
See related
Ensembl:ENSMUSG00000024068 AllianceGenome:MGI:1858896
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Spg4; mKIAA1083
Summary
Predicted to enable ATP hydrolysis activity; microtubule severing ATPase activity; and tubulin binding activity. Involved in anterograde axonal transport and axonal transport of mitochondrion. Acts upstream of or within microtubule severing. Located in microtubule cytoskeleton and nucleus. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and sensory organ. Used to study hereditary spastic paraplegia 4. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 4. Orthologous to human SPAST (spastin). [provided by Alliance of Genome Resources, Oct 2024]
Expression
Broad expression in CNS E18 (RPKM 14.2), whole brain E14.5 (RPKM 14.2) and 28 other tissues See more
Orthologs
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Genomic context

See Spast in Genome Data Viewer
Location:
17 E2; 17 45.64 cM
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (74643805..74698110)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (74337923..74391115)

Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E8696 Neighboring gene predicted gene 9349 Neighboring gene ribosomal protein L32 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E5627 Neighboring gene solute carrier family 30 (zinc transporter), member 6 Neighboring gene STARR-seq mESC enhancer starr_43220 Neighboring gene NLR family, CARD domain containing 4 Neighboring gene predicted gene 4708

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATP hydrolysis activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
 
enables alpha-tubulin binding ISO
Inferred from Sequence Orthology
more info
 
enables alpha-tubulin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables beta-tubulin binding ISO
Inferred from Sequence Orthology
more info
 
enables beta-tubulin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables isomerase activity IEA
Inferred from Electronic Annotation
more info
 
enables microtubule binding ISO
Inferred from Sequence Orthology
more info
 
enables microtubule binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables microtubule severing ATPase activity ISO
Inferred from Sequence Orthology
more info
 
enables microtubule severing ATPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in anterograde axonal transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in axonal transport of mitochondrion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in axonogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in cytokinetic process ISO
Inferred from Sequence Orthology
more info
 
involved_in cytokinetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport ISO
Inferred from Sequence Orthology
more info
 
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in exit from mitosis ISO
Inferred from Sequence Orthology
more info
 
involved_in exit from mitosis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in membrane fission ISO
Inferred from Sequence Orthology
more info
 
involved_in membrane fission ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in microtubule bundle formation ISO
Inferred from Sequence Orthology
more info
 
involved_in microtubule bundle formation ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within microtubule severing IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within microtubule severing IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within microtubule severing IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in microtubule severing ISO
Inferred from Sequence Orthology
more info
 
involved_in microtubule severing ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in mitotic cytokinesis ISO
Inferred from Sequence Orthology
more info
 
involved_in mitotic cytokinesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in mitotic spindle disassembly ISO
Inferred from Sequence Orthology
more info
 
involved_in mitotic spindle disassembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in nuclear membrane reassembly ISO
Inferred from Sequence Orthology
more info
 
involved_in nuclear membrane reassembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of cytokinesis IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cytokinesis ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of microtubule depolymerization IEA
Inferred from Electronic Annotation
more info
 
involved_in protein hexamerization ISO
Inferred from Sequence Orthology
more info
 
involved_in protein hexamerization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein homooligomerization ISO
Inferred from Sequence Orthology
more info
 
involved_in protein homooligomerization ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in axon ISO
Inferred from Sequence Orthology
more info
 
located_in axon ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in axon cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in centrosome IEA
Inferred from Electronic Annotation
more info
 
located_in centrosome ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasmic vesicle ISO
Inferred from Sequence Orthology
more info
 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
colocalizes_with endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 
colocalizes_with endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum tubular network ISO
Inferred from Sequence Orthology
more info
 
colocalizes_with endosome ISO
Inferred from Sequence Orthology
more info
 
colocalizes_with endosome ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in lipid droplet IEA
Inferred from Electronic Annotation
more info
 
located_in microtubule IEA
Inferred from Electronic Annotation
more info
 
is_active_in microtubule cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with microtubule cytoskeleton ISO
Inferred from Sequence Orthology
more info
 
colocalizes_with microtubule cytoskeleton ISS
Inferred from Sequence or Structural Similarity
more info
 
colocalizes_with midbody ISO
Inferred from Sequence Orthology
more info
 
located_in midbody ISO
Inferred from Sequence Orthology
more info
 
colocalizes_with midbody ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in midbody ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in nuclear membrane ISO
Inferred from Sequence Orthology
more info
 
located_in nuclear membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in nucleoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in perinuclear region of cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in spindle pole ISO
Inferred from Sequence Orthology
more info
 
located_in spindle pole ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
spastin
Names
spastic paraplegia 4 homolog
NP_001156342.1
NP_001344667.1
NP_001400965.1
NP_058658.2
XP_036016574.1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001162870.2NP_001156342.1  spastin isoform 1

    See identical proteins and their annotated locations for NP_001156342.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC169506
    Consensus CDS
    CCDS50181.1
    UniProtKB/Swiss-Prot
    Q6ZPY6, Q80VE0, Q9CVK0, Q9QYY8
    Related
    ENSMUSP00000024869.7, ENSMUST00000024869.8
    Conserved Domains (4) summary
    cd02679
    Location:114193
    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:341504
    RecA-like_spastin; ATPase domain of spastin
    pfam09336
    Location:578610
    Vps4_C; Vps4 C terminal oligomerization domain
    pfam17862
    Location:531585
    AAA_lid_3; AAA+ lid domain
  2. NM_001357738.2NP_001344667.1  spastin isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC169506
    Consensus CDS
    CCDS89152.1
    UniProtKB/TrEMBL
    A0A3B2WC92
    Related
    ENSMUSP00000156393.2, ENSMUST00000233611.2
    Conserved Domains (2) summary
    COG0464
    Location:262562
    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:114192
    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_001414036.1NP_001400965.1  spastin isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC169506
  4. NM_016962.3NP_058658.2  spastin isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. This results in a shorter protein (isoform 2) compared to isoform 1.
    Source sequence(s)
    AC169506
    Consensus CDS
    CCDS89151.1
    UniProtKB/TrEMBL
    A0A286YE25
    Related
    ENSMUSP00000153469.2, ENSMUST00000224711.2
    Conserved Domains (5) summary
    smart00382
    Location:371507
    AAA; ATPases associated with a variety of cellular activities
    cd02679
    Location:114192
    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:375505
    AAA; ATPase family associated with various cellular activities (AAA)
    pfam09336
    Location:577609
    Vps4_C; Vps4 C terminal oligomerization domain
    cl21455
    Location:338394
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000083.7 Reference GRCm39 C57BL/6J

    Range
    74643805..74698110
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036160681.1XP_036016574.1  spastin isoform X2

    Conserved Domains (4) summary
    pfam09336
    Location:518550
    Vps4_C; Vps4 C terminal oligomerization domain
    pfam17862
    Location:471525
    AAA_lid_3; AAA+ lid domain
    cd19524
    Location:281444
    RecA-like_spastin; ATPase domain of spastin
    cl00299
    Location:114182
    MIT; domain contained within Microtubule Interacting and Trafficking molecules. The MIT domain is found in sorting nexins, the nuclear thiol protease PalBH, the AAA protein spastin and archaebacterial proteins with similar domain architecture, vacuolar ...

RNA

  1. XR_001782088.3 RNA Sequence

  2. XR_004939548.1 RNA Sequence