• Gene id: 6683

Gene Summary

• Gene Symbol: SPAST   Gene   UCSC   Ensembl
• Aliases: ADPSP, FSP2, SPG4
• Gene name: spastin
• Alternate names: spastin, spastic paraplegia 4 (autosomal dominant; spastin), spastic paraplegia 4 protein,
• Gene location: 2p22.3 (32063550: 32157636)     Exons: 17     NC_000002.12
• Gene summary(Entrez): This gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellul
• OMIM: 602637

SNPs

rs202094637

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000021.9   g.32602299G>A
NC_000021.9   g.32602299G>C
NC_000021.8   g.33974609G>A
NC_000021.8   g.33974609G>C
NG_033839.2   g.15310C>T
NG_033839.2   g.15310C>G
NM_021254.4   c.735C>T
NM_021254.4   c.735C>G
NM_021254.3   c.735C>T
NM_021254.3   c.735C>G
NM_021254.2   c.73

rs143740376

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000021.9   g.32609853G>A
NC_000021.8   g.33982163G>A
NG_033839.2   g.7756C>T
NM_021254.4   c.292C>T
NM_021254.3   c.292C>T
NM_021254.2   c.292C>T
NM_001350334.2   c.63C>T
NM_001350334.1   c.63C>T
NM_001350336.2   c.292C>T
NM_001350336.1   c.292C>T
NM_001350337.2   c.29

Protein Summary

• Protein general information: Q9UBP0  
  • Name: Spastin (EC 5.6.1.1) (Spastic paraplegia 4 protein)
  • Length: 616  
  • Mass: 67197
  • Tissue specificity: Expressed in brain, heart, kidney, liver, lung, pancreas, placenta and skeletal muscle. The short isoforms may predominate in brain and spinal cord. {ECO
• Sequence:

  MNSPGGRGKKKGSGGASNPVPPRPPPPCLAPAPPAAGPAPPPESPHKRNLYYFSYPLFVGFALLRLVAFHLGLLF
  VWLCQRFSRALMAAKRSSGAAPAPASASAPAPVPGGEAERVRVFHKQAFEYISIALRIDEDEKAGQKEQAVEWYK
  KGIEELEKGIAVIVTGQGEQCERARRLQAKMMTNLVMAKDRLQLLEKMQPVLPFSKSQTDVYNDSTNLACRNGHL
  QSESGAVPKRKDPLTHTSNSLPRSKTVMKTGSAGLSGHHRAPSYSGLSMVSGVKQGSGPAPTTHKGTPKTNRTNK
  PSTPTTATRKKKDLKNFRNVDSNLANLIMNEIVDNGTAVKFDDIAGQDLAKQALQEIVILPSLRPELFTGLRAPA
  RGLLLFGPPGNGKTMLAKAVAAESNATFFNISAASLTSKYVGEGEKLVRALFAVARELQPSIIFIDEVDSLLCER
  REGEHDASRRLKTEFLIEFDGVQSAGDDRVLVMGATNRPQELDEAVLRRFIKRVYVSLPNEETRLLLLKNLLCKQ
  GSPLTQKELAQLARMTDGYSGSDLTALAKDAALGPIRELKPEQVKNMSASEMRNIRLSDFTESLKKIKRSVSPQT
  LEAYIRWNKDFGDTTV

• Structural information:
  • Protein Domains: (120..19-)
    (/note="MIT-)
    (/evidence="ECO:0000255"-)
  • Interpro: IPR003593  IPR041569  IPR003959  IPR003960  IPR007330   IPR027417  IPR017179  IPR035106  IPR015415  
  • Prosite: PS00674
  • PDB: 3EAB 3VFD 5Z6Q 5Z6R 6PEK 6PEN
  • PDBsum: 3EAB 3VFD 5Z6Q 5Z6R 6PEK 6PEN
  • DIP: 38418
  • STRING: ENSP00000480893
• Other Databases: GeneCards:  SPAST  Malacards:  SPAST

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061640	cytoskeleton-dependent cytokinesis	TAS	biological process
GO:0044877	protein-containing complex binding	TAS	molecular function
GO:0051013	microtubule severing	TAS	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0016887	ATPase activity	IBA	molecular function
GO:0031122	cytoplasmic microtubule organization	IBA	biological process
GO:0008568	microtubule-severing ATPase activity	IBA	molecular function
GO:0008017	microtubule binding	IDA	molecular function
GO:0008568	microtubule-severing ATPase activity	IDA	molecular function
GO:0008568	microtubule-severing ATPase activity	IDA	molecular function
GO:0015630	microtubule cytoskeleton	IDA	colocalizes with
GO:0008568	microtubule-severing ATPase activity	IDA	molecular function
GO:0008568	microtubule-severing ATPase activity	IDA	molecular function
GO:0008017	microtubule binding	IDA	molecular function
GO:0051013	microtubule severing	IDA	biological process
GO:0051013	microtubule severing	IDA	biological process
GO:0048487	beta-tubulin binding	IDA	molecular function
GO:0030496	midbody	IDA	cellular component
GO:0051260	protein homooligomerization	IDA	biological process
GO:0051013	microtubule severing	IDA	biological process
GO:0034214	protein hexamerization	IDA	biological process
GO:0090148	membrane fission	IMP	biological process
GO:0051228	mitotic spindle disassembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0019896	axonal transport of mitochondrion	ISS	biological process
GO:0008089	anterograde axonal transport	ISS	biological process
GO:0051013	microtubule severing	IMP	biological process
GO:0000281	mitotic cytokinesis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0031965	nuclear membrane	IMP	cellular component
GO:0010458	exit from mitosis	IMP	biological process
GO:0031468	nuclear envelope reassembly	IMP	biological process
GO:0048487	beta-tubulin binding	IPI	molecular function
GO:0043014	alpha-tubulin binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008568	microtubule-severing ATPase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0051301	cell division	IEA	biological process
GO:0005811	lipid droplet	IEA	cellular component
GO:0008152	metabolic process	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005874	microtubule	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0016853	isomerase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0008568	microtubule-severing ATPase activity	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0015630	microtubule cytoskeleton	IEA	cellular component
GO:0051013	microtubule severing	IEA	biological process
GO:0019896	axonal transport of mitochondrion	IEA	biological process
GO:0008089	anterograde axonal transport	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005811	lipid droplet	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0030496	midbody	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0031965	nuclear membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0031117	positive regulation of microtubule depolymerization	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0008568	microtubule-severing ATPase activity	IEA	molecular function
GO:0005813	centrosome	IEA	cellular component
GO:0008017	microtubule binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0032506	cytokinetic process	IEA	biological process
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	IEA	biological process
GO:0005819	spindle	IEA	cellular component
GO:0034214	protein hexamerization	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0005874	microtubule	IEA	cellular component
GO:0007409	axonogenesis	IEA	biological process
GO:0030496	midbody	IEA	cellular component
GO:0051013	microtubule severing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:0008568	microtubule-severing ATPase activity	IDA	molecular function
GO:0005768	endosome	IDA	colocalizes with
GO:0051013	microtubule severing	IDA	biological process
GO:0051013	microtubule severing	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0015630	microtubule cytoskeleton	IDA	colocalizes with
GO:0015630	microtubule cytoskeleton	IDA	colocalizes with
GO:0008017	microtubule binding	IDA	molecular function
GO:0008017	microtubule binding	IDA	molecular function
GO:0005783	endoplasmic reticulum	IDA	colocalizes with
GO:0030496	midbody	IDA	colocalizes with
GO:0005634	nucleus	IDA	cellular component
GO:0001578	microtubule bundle formation	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0032506	cytokinetic process	IMP	biological process
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0032467	positive regulation of cytokinesis	IMP	biological process
GO:0030496	midbody	IMP	cellular component

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
Hereditary spastic paraplegia	KEGG:H00266
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq