Spast spastin [Mus musculus (house mouse)] - Gene

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, Dec 2024]
Expression: Broad expression in CNS E18 (RPKM 14.2), whole brain E14.5 (RPKM 14.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

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_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

14-3-3 protein augments the protein stability of phosphorylated spastin and promotes the recovery of spinal cord injury through its agonist intervention.
Title: 14-3-3 protein augments the protein stability of phosphorylated spastin and promotes the recovery of spinal cord injury through its agonist intervention.
CRMP5 participates in oocyte meiosis by regulating spastin to correct microtubule-kinetochore misconnection.
Title: CRMP5 participates in oocyte meiosis by regulating spastin to correct microtubule-kinetochore misconnection.
Spastin is an essential regulator of male meiosis, acrosome formation, manchette structure and nuclear integrity.
Title: Spastin is an essential regulator of male meiosis, acrosome formation, manchette structure and nuclear integrity.
Spastin interacts with CRMP5 to promote spindle organization in mouse oocytes by severing microtubules.
Title: Spastin interacts with CRMP5 to promote spindle organization in mouse oocytes by severing microtubules.
Spastin recovery in hereditary spastic paraplegia by preventing neddylation-dependent degradation.
Title: Spastin recovery in hereditary spastic paraplegia by preventing neddylation-dependent degradation.
Microtubule-dependent and independent roles of spastin in lipid droplet dispersion and biogenesis.
Title: Microtubule-dependent and independent roles of spastin in lipid droplet dispersion and biogenesis.
Spastin depletion increases tubulin polyglutamylation and impairs kinesin-mediated neuronal transport, leading to working and associative memory deficits.
Title: Spastin depletion increases tubulin polyglutamylation and impairs kinesin-mediated neuronal transport, leading to working and associative memory deficits.
Collectively, these data demonstrate that spastin controls brain development by the regulation of neural stem cell functions at early developmental stages.
Title: Spastin Contributes to Neural Development through the Regulation of Microtubule Dynamics in the Primary Cilia of Neural Stem Cells.
two isoforms of spastin harboring the same missense mutation bind and bundle different subsets of microtubules.
Title: Functional differences of short and long isoforms of spastin harboring missense mutation.
Spastin regulates VAMP7-containing vesicles trafficking in cortical neurons.
Title: Spastin regulates VAMP7-containing vesicles trafficking in cortical neurons.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

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

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (3)
Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Spast (e-PCR), detects polymorphism
- UniSTS:507241

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
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

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Preferred Names: spastin

Names: spastic paraplegia 4 homolog

NP_001156342.1

EC 5.6.1.1

NP_001344667.1

EC 5.6.1.1

NP_001400965.1

EC 5.6.1.1

NP_058658.2

EC 5.6.1.1

XP_036016574.1

EC 5.6.1.1

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)

NM_001162870.2 → NP_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:114 → 193

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:341 → 504

RecA-like_spastin; ATPase domain of spastin

pfam09336
Location:578 → 610

Vps4_C; Vps4 C terminal oligomerization domain

pfam17862
Location:531 → 585

AAA_lid_3; AAA+ lid domain
NM_001357738.2 → NP_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:262 → 562

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:114 → 192

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 ...
NM_001414036.1 → NP_001400965.1 spastin isoform 4

Status: VALIDATED

Source sequence(s)

AC169506
NM_016962.3 → NP_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:371 → 507

AAA; ATPases associated with a variety of cellular activities

cd02679
Location:114 → 192

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:375 → 505

AAA; ATPase family associated with various cellular activities (AAA)

pfam09336
Location:577 → 609

Vps4_C; Vps4 C terminal oligomerization domain

cl21455
Location:338 → 394

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

NC_000083.7 Reference GRCm39 C57BL/6J

Range

74643805..74698110

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036160681.1 → XP_036016574.1 spastin isoform X2

Conserved Domains (4) summary

pfam09336
Location:518 → 550

Vps4_C; Vps4 C terminal oligomerization domain

pfam17862
Location:471 → 525

AAA_lid_3; AAA+ lid domain

cd19524
Location:281 → 444

RecA-like_spastin; ATPase domain of spastin

cl00299
Location:114 → 182

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 ...