Spastin

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SPAST
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSPAST, ADPSP, FSP2, SPG4, spastin
External IDsMGI: 1858896 HomoloGene: 8970 GeneCards: SPAST
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for SPAST
Genomic location for SPAST
Band2p22.3Start32,063,547 bp[1]
End32,157,637 bp[1]
RNA expression pattern
PBB GE SPAST 209748 at fs.png

PBB GE SPAST 207724 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_014946
NM_199436
NM_001363823
NM_001363875

NM_001162870
NM_016962
NM_001357738

RefSeq (protein)

NP_055761
NP_955468
NP_001350752
NP_001350804

NP_001156342
NP_058658
NP_001344667

Location (UCSC)Chr 2: 32.06 – 32.16 MbChr 17: 74.34 – 74.39 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

The human gene SPAST codes for the microtubule-severing protein of the same name, commonly known as spastin.[5]

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, intracellular motility, organelle biogenesis, protein folding, and proteolysis. The encoded ATPase may be involved in the assembly or function of nuclear protein complexes. Two transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their full length sequences have not been determined. Mutations associated with this gene cause the most frequent form of autosomal dominant spastic paraplegia 4.[6]

See also[edit]

Spastic paraplegia

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000021574 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024068 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ Roll-Mecak A, Vale RD (2008). "Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin". Nature. 451 (7176): 363–7. doi:10.1038/nature06482. PMC 2882799. PMID 18202664.
  6. ^ "Entrez Gene: SPAST spastin".

External links[edit]

Further reading[edit]