InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ATP13A2

Summary

InnateDB Protein

IDBP-372233.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ATP13A2

Protein Name

ATPase type 13A2

Synonyms

CLN12; HSA9947; KRPPD; PARK9;

Species

Homo sapiens

Ensembl Protein

ENSP00000413307

InnateDB Gene

IDBG-91664 (ATP13A2)

Protein Structure

UniProt Annotation

Function

May play a role in intracellular cation homeostasis and the maintenance of neuronal integrity. {ECO:0000269PubMed:22186024}.

Subcellular Localization

Membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Lysosome {ECO:0000269PubMed:21542062, ECO:0000269PubMed:22186024}.

Disease Associations

Kufor-Rakeb syndrome (KRS) [MIM:606693]: A rare form of autosomal recessive juvenile or early-onset, levodopa-responsive parkinsonism. In addition to typical parkinsonian signs, clinical manifestations of Kufor-Rakeb syndrome include behavioral problems, facial tremor, pyramidal tract dysfunction, supranuclear gaze palsy, and dementia. {ECO:0000269PubMed:16964263, ECO:0000269PubMed:17485642, ECO:0000269PubMed:18413573, ECO:0000269PubMed:20683840, ECO:0000269PubMed:20853184, ECO:0000269PubMed:21542062}. Note=The disease is caused by mutations affecting the gene represented in this entry.Ceroid lipofuscinosis, neuronal, 12 (CLN12) [MIM:606693]: A form of neuronal ceroid lipofuscinosis characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material. {ECO:0000269PubMed:22388936}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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 substantia nigra, it is found in neuromelanin- positive dopaminergic neurons (at protein level). {ECO:0000269PubMed:22186024}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 56 experimentally validated interaction(s) in this database.

Experimentally validated
Total	56 [view]
Protein-Protein	56 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0016887	ATPase activity
GO:0019829	cation-transporting ATPase activity
GO:0046872	metal ion binding

Biological Process

GO:0006200	ATP catabolic process
GO:0006812	cation transport
GO:0008219	cell death

Cellular Component

GO:0005764	lysosome
GO:0005765	lysosomal membrane
GO:0016021	integral component of membrane

Protein Structure and Domains

PDB ID

InterPro

IPR001757 Cation-transporting P-type ATPase
IPR006544 Cation-transporting P-type ATPase, subfamily V
IPR008250 P-type ATPase, A domain
IPR023214 HAD-like domain
IPR023299 P-type ATPase, cytoplasmic domain N

PFAM

PF12409
PF00122
PF00702
PF08282
PF13419

PRINTS

PR00119
PR00120

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9NQ11