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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
General
enzyme
transmembrane 11 protein
Properties
SIZE: entity length = 1196 aa
MW = 134 kD
COMPARTMENT: cellular membrane
MOTIF: cytoplasmic domain {1-31}
transmembrane domain {32-52}
exoplasmic loop {53-197}
transmembrane domain {198-218}
cytoplasmic loop {219-223}
transmembrane domain {224-244}
exoplasmic loop {245-400}
transmembrane domain {401-421}
cytoplasmic loop {422-436}
transmembrane domain {437-457}
exoplasmic loop {458-900}
MOTIF: aspartate residue {D486}
Mg+2-binding site
SITE: 848-848
Mg+2-binding site
SITE: 852-852
transmembrane domain {901-921}
cytoplasmic loop {922-932}
transmembrane domain {933-953}
exoplasmic loop {954-972}
transmembrane domain {973-993}
cytoplasmic loop {994-1035}
transmembrane domain {1036-1056}
exoplasmic loop {1057-1070}
transmembrane domain {1071-1091}
cytoplasmic loop {1092-1109}
transmembrane domain {1110-1130}
exoplasmic domain {1131-1196}
Database Correlations
UniProt Q4VNC1
PFAM correlations
Kegg hsa:8423
References
UniProt :accession Q4VNC1