About   Help   FAQ
Spast Gene Detail
Summary
  • Symbol
    Spast
  • Name
    spastin
  • Synonyms
    mKIAA1083, Spg4
  • Feature Type
    protein coding gene
  • IDs
    MGI:1858896
    NCBI Gene: 50850
  • Gene Overview
    MyGene.info: SPAST
  • Alliance
    gene page
Location & Maps
more
  • Sequence Map
    Chr17:74338987-74391115 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      52129 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 45.64 cM, cytoband E3
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    SPAST, spastin
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SPAST, spastin
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ADPSP, FSP2, SPG4
  • Links
    NCBI Gene ID: 6683
    neXtProt AC: NX_Q9UBP0
    UniProt: Q9UBP0

  • Chr Location
    2p22.3; chr2:32063551-32157637 (+)  GRCh38.p7
  • HomoloGene
    Vertebrate Homology Class 8970
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: SPAST
  • Protein SuperFamily
    spastin
  • Gene Tree
    Spast
Human Diseases
more
  • Diseases
    1 with Spast mouse models; 1 with human SPAST associations

Human Disease Mouse Models
      
IDs
 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    9 phenotypes from 5 alleles in 4 genetic backgrounds
    17 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a mutation in this gene are sterile and display progressive axonopathy with focal axonal swellings and late onset gait abnormalities.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    55
  • GO References
    8
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
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
    94
  • Tissues
    94
  • cDNA Data
    128
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    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
    Polymorphisms
    less
    • SNPs within 2kb
      637 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 130
      cDNA 128
      Primer pair 1
      Other 1

      Microarray probesets 6
    References
    more
    • Summaries
      All 51
      Developmental Gene Expression 1
      Diseases 2
      Gene Ontology 8
      Phenotypes 17
    • 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:240490 Brill MS, et al., Branch-Specific Microtubule Destabilization Mediates Axon Branch Loss during Neuromuscular Synapse Elimination. Neuron. 2016 Nov 23;92(4):845-856
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.     		last database update
    09/11/2018
    MGI 6.12     		The Jackson Laboratory