InnateDB Protein
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IDBP-228666.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ATP13A4
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Protein Name
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ATPase type 13A4
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000383129
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InnateDB Gene
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IDBG-69998 (ATP13A4)
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Protein Structure
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Function |
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Subcellular Localization |
Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
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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.
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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}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q4VNC1
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PhosphoSite |
PhosphoSite-Q4VNC1
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
84239
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UniGene |
Hs.674423
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RefSeq |
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HUGO |
HGNC:25422
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OMIM |
609556
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CCDS |
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HPRD |
12502
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IMGT |
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EMBL |
AC048351
AC092942
AC105057
AK095277
AL512736
AY358110
AY823162
BC101496
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GenPept |
AAI01497
AAQ88477
AAX24102
BAC04520
CAC21667
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