Spast MGI Mouse Gene Detail - MGI:1858896

Spast Gene Detail

Symbol

Spast
Name

spastin
Synonyms

mKIAA1083, Spg4

Feature Type

protein coding gene
IDs

MGI:1858896
NCBI Gene: 50850
Gene Overview

MyGene.info: SPAST

Sequence Map

Chr17:74338987-74391113 bp, + strand
From Ensembl annotation of GRCm38

Mouse Genome Browser
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Sequence

52127 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 45.64 cM, cytoband E3
Mapping Data

3 experiments

Human Ortholog

SPAST, spastin

Vertebrate Orthologs

10

Human Ortholog

SPAST, spastin
Orthology source: HomoloGene, HGNC
Synonyms

ADPSP, FSP2, SPG4
Links

HGNC:11233

NCBI Gene ID: 6683

neXtProt AC: NX_Q9UBP0
Chr Location

2p24-p21; chr2:32063552-32157637 (+) GRCh38.p2

HomoloGene

Vertebrate Homology Class 8970
1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
HCOP

human homology predictions: SPAST
Protein SuperFamily

spastin
Gene Tree

Spast

Diseases

1 with Spast mouse models; 1 with human SPAST associations

Human Disease

Mouse Models

Spastic Paraplegia 4, Autosomal Dominant; SPG4 OMIM: 182601

View 2 models

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

2 with disease annotations

References

3 with disease annotations

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Phenotype Summary

7 phenotypes from 4 alleles in 3 genetic backgrounds
14 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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.

All Mutations and Alleles

21
Chemically induced (ENU)

1
Gene trapped

15
Targeted

5
Incidental Mutations

Mutagenetix

Mice homozygous for a mutation in this gene are sterile and display progressive axonopathy with focal axonal swellings and late onset gait abnormalities.

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All GO Annotations

51
GO References

8

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	receptor	receptor binding	RNA binding	transcription	transferase	transporter

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	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.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

126
Literature Summary

1

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO
Other Vertebrate Links

Xenbase spast

ZFIN spast

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Spast interacts with 366 markers (Mir1b, Mir7-1, Mir7-2, ...) View All

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All Sequences

29
RefSeq

11
UniProt

1
CCDS

CCDS50181.1
UniGene

19804

Ensembl

ENSMUSG00000024068 (Evidence)
NCBI Gene

50850

			Length	Strain/Species	Flank
genomic	ENSMUSG00000024068	Ensembl Gene Model \| MGI Sequence Detail	52127	C57BL/6J	± kb
transcript	ENSMUST00000024869	Ensembl \| MGI Sequence Detail	4696	Not Applicable
polypeptide	ENSMUSP00000024869	Ensembl \| MGI Sequence Detail	614	Not Applicable

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SNPs within 2kb

637 from dbSNP Build 142

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UniProt

1 Sequence
Protein Ontology

PR:000015477 spastin
EC

3.6.4.3
InterPro Domains

IPR003593 AAA+ ATPase domain

IPR003960 ATPase, AAA-type, conserved site

IPR003959 ATPase, AAA-type, core

IPR007330 MIT

IPR027417 P-loop containing nucleoside triphosphate hydrolase

IPR017179 Spastin

IPR015415 Vps4 oligomerisation, C-terminal

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All nucleic 127

cDNA 126

Primer pair 1

Microarray probesets 6

Summaries

All 46

Developmental Gene Expression 1

Diseases 3

Gene Ontology 8

Phenotypes 14
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

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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