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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
    gene 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
    18
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 MGP_129S1SvImJ_G0024027
 protein coding gene Chr17:76962695-77020185 (+)
A/J MGP_AJ_G0023984
 protein coding gene Chr17:74607916-74662377 (+)
AKR/J MGP_AKRJ_G0023953
 protein coding gene Chr17:75677276-75734358 (+)
BALB/cJ MGP_BALBcJ_G0023986
 protein coding gene Chr17:74514472-74568943 (+)
C3H/HeJ MGP_C3HHeJ_G0023750
 protein coding gene Chr17:76609681-76665091 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024431
 protein coding gene Chr17:79724505-79778990 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021875
 protein coding gene Chr17:70252993-70300838 (+)
CAST/EiJ MGP_CASTEiJ_G0023230
 protein coding gene Chr17:77114869-77160269 (+)
CBA/J MGP_CBAJ_G0023724
 protein coding gene Chr17:83077427-83142045 (+)
DBA/2J MGP_DBA2J_G0023853
 protein coding gene Chr17:73205296-73257208 (+)
FVB/NJ MGP_FVBNJ_G0023819
 protein coding gene Chr17:72697593-72756275 (+)
LP/J MGP_LPJ_G0023936
 protein coding gene Chr17:77731410-77784592 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0023847
 protein coding gene Chr17:82878569-82935418 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024475
 protein coding gene Chr17:76154409-76212565 (+)
PWK/PhJ MGP_PWKPhJ_G0022976
 protein coding gene Chr17:72574244-72627791 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022787
 protein coding gene Chr17:72860598-72916195 (+)
WSB/EiJ MGP_WSBEiJ_G0023297
 protein coding gene Chr17:77026193-77079003 (+)



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
    neXtProt AC: NX_Q9UBP0
    UniProt: Q9UBP0

  • Chr Location
    2p22.3; chr2:32063556-32157637 (+)  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
    27 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
    82
  • 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
    867
  • 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

      Microarray probesets 6
    References
    more
    • Summaries
      All 70
      Developmental Gene Expression 6
      Diseases 3
      Gene Ontology 13
      Phenotypes 27
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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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    11/12/2024
    MGI 6.24     		The Jackson Laboratory