cation-transporting ATPase 13A4 (P5-ATPase isoform 4, ATP13A4)

Function

-..........-

ATP + H2O <--> ADP + phosphate

Structure

• belongs to the cation transport ATPase (P-type) family, type V subfamily

Compartment

membrane (putative)

Alternative splicing

named isoforms=4

Expression

• expressed in heart, placenta, liver, skeletal muscles, & pancreas
• lower levels of expression are also detected in brain, lung & kidney
• weakly expressed in all areas of the adult brain
• expression in fetal brain is higher than in adult brain, with levels similar to several other fetal tissues including spleen & skeletal muscle

Pathology

• a chromosomal aberration involving ATP13A4 is found in 2 patients with specific language impairment (SLI) disorders paracentric inversion inv(3)(q25;q29)
• inversion produces a disruption of the protein

More general terms

• enzyme
• transmembrane 11 protein

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:8423
• UniProt: http://www.uniprot.org/uniprot/Q4VNC1.html