spatacsin (spastic paraplegia 11 protein, colorectal carcinoma-associated protein, SPG11, KIAA1840)

Function

• phosphorylated upon DNA damage, probably by ATM or ATR

Structure

contains 3 LRR repeats (leucine-rich repeats)

Compartment

• membrane, cytoplasm, nucleus
• mainly cytoplasmic

Alternative splicing

named isoforms=2

Expression

• expressed in all structures of brain
• high expression in cerebellum

Pathology

• defects in SPG11 are the cause of spastic paraplegia type 11

More general terms

• transmembrane 2e protein
• phosphoprotein
• glycoprotein

Database

• OMIM: https://mirror.omim.org/entry/604360
• UniProt: http://www.uniprot.org/uniprot/Q96JI7.html