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Spast Gene Detail
Summary
  • Symbol
    Spast
  • Name
    spastin
  • Synonyms
    mKIAA1083, Spg4
  • Feature Type
    protein coding gene
  • IDs
    MGI:1858896
    NCBI Gene: 50850
  • Alliance
    genome feature page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:74645982-74698110 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 45.64 cM, cytoband E3
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1715 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1858896
 protein coding gene Chr17:74643805-74698110 (+)
129S1/SvImJ ENSMUSG00200038829
 protein coding gene Chr17:69953050-70005958 (+)
A/J ENSMUSG00195027331
 protein coding gene Chr17:71340167-71392471 (+)
AKR/J ENSMUSG00220018288
 protein coding gene Chr17:70292781-70345084 (+)
BALB/cJ ENSMUSG00180004387
 protein coding gene Chr17:71071491-71125204 (+)
C3H/HeJ ENSMUSG00175028510
 protein coding gene Chr17:70334427-70388116 (+)
C57BL/6NJ ENSMUSG00215020235
 protein coding gene Chr17:70065553-70117690 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021875
 protein coding gene Chr17:70252993-70300838 (+)
CAST/EiJ ENSTCUG00005014575
 protein coding gene Chr17:70924727-70977134 (+)
CBA/J ENSMUSG00210026795
 protein coding gene Chr17:70203599-70257295 (+)
DBA/2J ENSMUSG00185012543
 protein coding gene Chr17:73036716-73090409 (+)
FVB/NJ ENSMUSG00205020814
 protein coding gene Chr17:70835038-70888754 (+)
JF1/MsJ ENSUMUG00000011658
 protein coding gene Chr17:72707932-72760775 (+)
LP/J ENSMUSG00230017569
 protein coding gene Chr17:74009997-74062901 (+)
NOD/ShiLtJ ENSMUSG00190025064
 protein coding gene Chr17:70101370-70154272 (+)
NZO/HlLtJ ENSMUSG00225028624
 protein coding gene Chr17:76296238-76349894 (+)
PWK/PhJ ENSLUMG00010026524
 protein coding gene Chr17:69938031-69990824 (+)
SPRET/EiJ ENSMSPG00010016372
 protein coding gene Chr17:70294695-70346670 (+)
WSB/EiJ ENSIUOG00005010167
 protein coding gene Chr17:71050406-71103767 (+)



Homology
more
  • Human Ortholog
    SPAST, spastin
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SPAST, spastin
  • Synonyms
    ADPSP, FSP2, SPG4
  • Links
    NCBI Gene ID: 6683
    UniProt: Q9UBP0

  • Chr Location
    2p22.3; chr2:32063530-32157637 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Spast mouse models; 1 with human SPAST associations

Human Disease Mouse Models
      
IDs
 View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    35 phenotypes from 7 alleles in 6 genetic backgrounds
    29 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous inactivation of this gene results in sterility and progressive axonopathy with focal axonal swellings and late onset gait abnormalities. Mice homozygous for a knock-out allele exhibit male sterility, decreased testis weight, azoospermia, defects in male meiosis, acrosome formation and manchette structure, and loss of spermatid nuclear integrity.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    119
  • GO References
    13
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    758
  • Tissues
    129
  • cDNA Data
    128
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000024068 Ensembl Gene Model | MGI Sequence Detail 52129 C57BL/6J ±  kb
    transcript ENSMUST00000024869 Ensembl | MGI Sequence Detail 4672 Not Applicable  
    polypeptide ENSMUSP00000024869 Ensembl | MGI Sequence Detail 614 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 130
      cDNA 128
      Primer pair 1
      Other 1
      Antibodies 1

      Microarray probesets 6
    References
    more
    • Summaries
      All 74
      Developmental Gene Expression 6
      Diseases 3
      Gene Ontology 13
      Phenotypes 29
    • Earliest
      J:61872 Hazan J, et al., Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet. 1999 Nov;23(3):296-303
    • Latest
      J:370214 Gavoci A, et al., Polyglutamylation of microtubules drives neuronal remodeling. Nat Commun. 2025 Jun 25;16(1):5384
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/01/2026
    MGI 6.24     		The Jackson Laboratory