Homo sapiens Protein: ATP13A4 | |||||||||||||
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Summary | |||||||||||||
InnateDB Protein | IDBP-70000.6 | ||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||
Gene Symbol | ATP13A4 | ||||||||||||
Protein Name | ATPase type 13A4 | ||||||||||||
Synonyms | |||||||||||||
Species | Homo sapiens | ||||||||||||
Ensembl Protein | ENSP00000339182 | ||||||||||||
InnateDB Gene | IDBG-69998 (ATP13A4) | ||||||||||||
Protein Structure |
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UniProt Annotation | |||||||||||||
Function | |||||||||||||
Subcellular Localization | Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. | ||||||||||||
Disease Associations | Note=A chromosomal aberration involving ATP13A4 is found in 2 patients with specific language impairment (SLI) disorders. Paracentric inversion inv(3)(q25;q29). The inversion produces a disruption of the protein. | ||||||||||||
Tissue Specificity | Expressed in heart, placenta, liver, skeletal muscles, and pancreas. Lower levels of expression are also detected in brain, lung and kidney. Weakly expressed in the adult brain. Expression in fetal brain is higher than in adult brain, with levels similar to several other fetal tissues including spleen and skeletal muscle. In adult brain expressed at low levels in all tissues examined, including the temporal lobe and putamen. {ECO:0000269PubMed:15925480}. | ||||||||||||
Comments | |||||||||||||
Interactions | |||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||
PDB ID | |||||||||||||
InterPro |
IPR001757
Cation-transporting P-type ATPase IPR004014 Cation-transporting P-type ATPase, N-terminal 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 |
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PFAM |
PF00690
PF12409 PF00122 PF00702 PF08282 PF13419 |
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PRINTS |
PR00119
PR00120 |
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PIRSF | |||||||||||||
SMART |
SM00831
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TIGRFAMs | |||||||||||||
Post-translational Modifications | |||||||||||||
Modification | |||||||||||||
Cross-References | |||||||||||||
SwissProt | Q4VNC1 | ||||||||||||
PhosphoSite | PhosphoSite-Q4VNC1 | ||||||||||||
TrEMBL | |||||||||||||
UniProt Splice Variant | |||||||||||||
Entrez Gene | 84239 | ||||||||||||
UniGene | Hs.674423 | ||||||||||||
RefSeq | NP_115655 | ||||||||||||
HUGO | HGNC:25422 | ||||||||||||
OMIM | 609556 | ||||||||||||
CCDS | CCDS3304 | ||||||||||||
HPRD | 12502 | ||||||||||||
IMGT | |||||||||||||
EMBL | AC048351 AC092942 AC105057 AK095277 AL512736 AY358110 AY823162 BC101496 | ||||||||||||
GenPept | AAI01497 AAQ88477 AAX24102 BAC04520 CAC21667 | ||||||||||||