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

General

glycoprotein phosphoprotein transmembrane 2e protein

Properties

SIZE: MW = 279 kD entity length = 2443 aa COMPARTMENT: cytoplasm cell nucleus MOTIF: exoplasmic domain {1-1237} MOTIF: leucine-rich repeat SITE: 151-175 MOTIF: leucine residue (SEVERAL) N-glycosylation site {N612} N-glycosylation site {N1046} transmembrane domain {1238-1258} cytoplasmic loop {1259-1471} MOTIF: leucine-rich repeat SITE: 1396-1420 MOTIF: leucine residue (SEVERAL) transmembrane domain {1472-1492} exoplasmic domain {1493-2443} MOTIF: leucine-rich repeat SITE: 1692-1715 MOTIF: leucine residue (SEVERAL) Ser phosphorylation site {S1955} Ser phosphorylation site {S1958} Ser phosphorylation site {S1961}

Database Correlations

OMIM 604360 UniProt Q96JI7

References

UniProt :accession Q96JI7