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spastin (SPAST, KIAA1083, SPG4)
Function:
1) ATPase involved in the assembly or function of nuclear protein complexes (putative)
2) role in microtubule dynamics (putative)
3) interacts directly with CHMT1B & ZFYVE27
Structure:
- belongs to the AAA ATPase family
- contains 1 MIT domain
Compartment: nucleus, cytoplasm, perinuclear region
Alternative splicing: named isoforms=2
Expression:
- ubiquitous
Pathology:
- defects in SPAST are the cause of spastic paraplegia type 4
General
AAA ATPase family
nuclear protein
Properties
SIZE: MW = 67 kD
entity length = 616 aa
COMPARTMENT: cytoplasm
cell nucleus
MOTIF: nuclear translocation signal {4-11}
nuclear export signal {57-66}
interaction with CHMT1B {80-196}
MOTIF: MIT {116-194}
nuclear translocation signal {309-312}
ATP-binding site
NAME: ATP-binding site
SITE: 382-389
Database Correlations
OMIM correlations
MORBIDMAP 604277
UniProt Q9UBP0
Pfam PF00004
References
- UniProt :accession Q9UBP0
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=SPAST