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Spast
Gene Detail
 Symbol
Name
ID
Spast
spastin
MGI:1858896
Synonyms mKIAA1083, Spg4
Feature Type protein coding gene
Genetic Map
Chromosome 17
45.64 cM, cytoband E3
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr17:74338987-74391113 bp, + strand
From NCBI annotation of GRCm38

  52127 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:8970  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: spastin
Gene Tree: Spast

Human
homologs
Human Homolog SPAST, spastin
NCBI Gene ID 6683
neXtProt AC  NX_Q9UBP0
Human Synonyms  ADPSP, FSP2, SPG4
Human Chr (Location)  2p24-p21; chr2:32063592-32157637 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human SPAST
Mutations,
alleles, and
phenotypes
All mutations/alleles(20) : Chemically induced (ENU)(1) Gene trapped(15) Targeted(4)
Incidental mutations (data from Mutagenetix )
 
Mice homozygous for a mutation in this gene are sterile and display progressive axonopathy with focal axonal swellings and late onset gait abnormalities.
 
Human Diseases Modeled Using Mouse Spast (1)    Alleles Annotated to Human Diseases(2)   
Interactions
Spast interacts with 367 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (41 annotations)
Process ATP catabolic process, cell cycle, ...
Component cytoplasm, cytoplasmic vesicle, ...
Function alpha-tubulin binding, ATP binding, ...
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (94)    Tissues (94)    Images (16)
Theiler Stages: 22
Assay TypeResults
RNA in situ 94
cDNA source data(126)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(127) cDNA(126) Primer pair(1)
Microarray probesets(6)
Other database
links
Ensembl Gene ModelENSMUSG00000024068 (Evidence)
Entrez Gene50850 (Evidence)
UniGene19804
DFCITC1577453, TC1622872, TC1628263, TC1717797
DoTSDT.525889, DT.55260767, DT.91321131
NIA Mouse Gene IndexU018222
EC3.6.4.3
Consensus CDS ProjectCCDS50181.1
International Mouse Knockout Project StatusSpast
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 50850 NCBI Gene Model | MGI Sequence Detail 52127 C57BL/6J ±  kb
transcript NM_001162870 RefSeq | MGI Sequence Detail 4696 C57BL/6 
polypeptide Q9QYY8 UniProt | EBI | MGI Sequence Detail 614 Not Applicable 

For the selected sequences
All sequences(34) RefSeq(8) UniProt(1)
Polymorphisms SNPs within 2kb(642 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003593 AAA+ ATPase domain
InterPro IPR003960 ATPase, AAA-type, conserved site
InterPro IPR003959 ATPase, AAA-type, core
InterPro IPR007330 MIT
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
InterPro IPR017179 Spastin
Protein Ontology PR:000015477 spastin
Graphical View of Protein Domain Structure
References (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:192671 Fassier C, et al., Microtubule-targeting drugs rescue axonal swellings in cortical neurons from spastin knockout mice. Dis Model Mech. 2013 Jan;6(1):72-83
All references(47)
Disease annotation references (3)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/12/2014
MGI 5.19
The Jackson Laboratory