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

Alleles and phenotypes

All 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)   

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 Type	Results
RNA in situ	94

cDNA source data(126)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(127) cDNA(126) Primer pair(1)
Microarray probesets(6)

Other database links

Ensembl Gene Model	ENSMUSG00000024068 (Evidence)
Entrez Gene	50850 (Evidence)
UniGene	19804
DFCI	TC1577453, TC1622872, TC1628263, TC1717797
DoTS	DT.525889, DT.55260767, DT.91321131
NIA Mouse Gene Index	U018222
EC	3.6.4.3
Consensus CDS Project	CCDS50181.1
International Mouse Knockout Project Status	Spast

Sequences

Length	Strain/Species
genomic	50850	NCBI Gene Model | MGI Sequence Detail	52127	C57BL/6J
transcript	NM_001162870	RefSeq | MGI Sequence Detail	4696	C57BL/6
polypeptide	Q9QYY8	UniProt | EBI | MGI Sequence Detail	614	Not Applicable

All sequences(34) RefSeq(8) UniProt(1)

Polymorphisms

SNPs within 2kb(642 from dbSNP Build 137)

Protein-related information

Resource	ID	Description
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)