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 Ensembl 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 western clawed frog; 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(21) : Chemically induced (ENU)(1) Gene trapped(15) Targeted(5)
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 in Mice Using Spast (1)    Mutations Annotated to Human Diseases (2)   

Interactions

Spast interacts with 367 markers (Mir1b, Mir7-1, Mir7-2, ...)

View All

Gene Ontology
(GO)
classifications

All GO classifications: (41 annotations)

Process	cell cycle, cell differentiation, ...
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)    Tissue x Stage Matrix (view)

Assay Type	Results
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 Model	ENSMUSG00000024068 (Evidence)
Entrez Gene	50850 (Evidence)
UniGene	19804
DFCI	TC1622872, TC1577453, TC1628263, TC1717797
DoTS	DT.91321131, DT.55260767, DT.525889
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	ENSMUSG00000024068	Ensembl Gene Model | MGI Sequence Detail	52127	C57BL/6J
transcript	ENSMUST00000024869	Ensembl | MGI Sequence Detail	4696	Not Applicable
polypeptide	ENSMUSP00000024869	Ensembl | MGI Sequence Detail	614	Not Applicable

All sequences(36) RefSeq(10) 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

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(50)
Disease annotation references (3)