Recombinant Human Probable cation-transporting ATPase 13A2 (ATP13A2), Truncated

Uniprot Id

Q9NQ11

Target Species

Human

Target Name

ATP13A2

Target Full Name

Polyamine-transporting ATPase 13A2

Target Function

ATPase which acts as a lysosomal polyamine exporter with high affinity for spermine. Also stimulates cellular uptake of polyamines and protects against polyamine toxicity. Plays a role in intracellular cation homeostasis and the maintenance of neuronal integrity. Contributes to cellular zinc homeostasis. Confers cellular protection against Mn(2+) and Zn(2+) toxicity and mitochondrial stress. Required for proper lysosomal and mitochondrial maintenance. Regulates the autophagy-lysosome pathway through the control of SYT11 expression at both transcriptional and post-translational levels. Facilitates recruitment of deacetylase HDAC6 to lysosomes to deacetylate CTTN, leading to actin polymerization, promotion of autophagosome-lysosome fusion and completion of autophagy. Promotes secretion of exosomes as well as secretion of SCNA via exosomes. Plays a role in lipid homeostasis.

Target Involvement

Kufor-Rakeb syndrome (KRS); Spastic paraplegia 78, autosomal recessive (SPG78)

Target Subcellular Location

Lysosome membrane; Multi-pass membrane protein. Late endosome membrane; Multi-pass membrane protein. Endosome, multivesicular body membrane; Multi-pass membrane protein. Cytoplasmic vesicle, autophagosome membrane; Multi-pass membrane protein.

Target Protein Families

Cation transport ATPase (P-type) (TC 3.A.3) family, Type V subfamily

Target Tissue Specificity

Expressed in brain; protein levels are markedly increased in brain from subjects with Parkinson disease and subjects with dementia with Lewy bodies. Detected in pyramidal neurons located throughout the cingulate cortex (at protein level). In the substanti

Target Synonyms

AT132_HUMAN; Atp13a2; ATPase type 13A2; CLN12; FLJ26510; HSA9947; KRPPD; PARK9; Probable cation transporting ATPase 13A2; Probable cation-transporting ATPase 13A2; Putative ATPase; RP1-37C10.4

Target Background

This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.