QuickView for spastin (gene)

Gene Symbol:

SPAST Homo sapiens

Full name:

spastin

Synonyms:

ADPSP, FSP2, SPG4, spastin, spastic paraplegia 4 (autosomal dominant; spastin), spastic paraplegia 4 protein

Genomic Location:

Chr 2: 32142184-32236210

Description:

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 ...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Danio rerio ,  Gallus gallus ,  Pan troglodytes ,  Bos taurus ,  Canis lupus familiaris

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

CTACTGT_MIR199A ,  TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P ,  SP1_Q4_01 ,  ATTCTTT_MIR186 ,  GTTTGTT_MIR495 ,  GGGCGGR_SP1_Q6 ,  GTGCCAA_MIR96 ,  TAATAAT_MIR126 ,  AP2_Q3 ,  SP1_Q6 ,  TTGTTT_FOXO4_01 ,  SP1_Q6_01 ,  TGGTGCT_MIR29A_MIR29B_MIR29C ,  GTTAAAG_MIR302B

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-186 ,  Predicted Gene Targets for miR-24 ,  Predicted Gene Targets for miR-30 ,  Predicted Gene Targets for miR-96 ,  Predicted Gene Targets for miR-203 ,  Predicted Gene Targets for miR-29 ,  Predicted Gene Targets for miR-486 ,  Predicted Gene Targets for miR-495 ,  Predicted Gene Targets for miR-496

Cytogenetic Map:

2p22.3

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