InnateDB Protein
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IDBP-294850.5
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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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PLD3
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Protein Name
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phospholipase D family, member 3
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Synonyms
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AD19; HU-K4; HUK4;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000387022
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InnateDB Gene
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IDBG-51389 (PLD3)
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Protein Structure
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Function |
Probably involved in APP processing. {ECO:0000269PubMed:24336208}.
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Subcellular Localization |
Endoplasmic reticulum membrane {ECO:0000269PubMed:15794758}; Single-pass type II membrane protein {ECO:0000269PubMed:15794758}.
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Disease Associations |
Alzheimer disease 19 (AD19) [MIM:615711]: A late-onset form of Alzheimer disease, a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C- terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death. {ECO:0000269PubMed:24336208}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
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Tissue Specificity |
Widely expressed. In the brain, high levels of expression are detected in the frontal, temporal and occipital cortices and hippocampus. Expressed at low level in corpus callosum. {ECO:0000269PubMed:15794758, ECO:0000269PubMed:24336208}.
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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 19 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
19
[view]
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Protein-Protein |
19
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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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 |
IPR001736
Phospholipase D/Transphosphatidylase
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PFAM |
PF00614
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PRINTS |
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PIRSF |
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SMART |
SM00155
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TIGRFAMs |
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Modification |
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SwissProt |
Q8IV08
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PhosphoSite |
PhosphoSite-Q8IV08
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TrEMBL |
M0R2E7
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UniProt Splice Variant |
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Entrez Gene |
23646
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UniGene |
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RefSeq |
NP_001278240
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HUGO |
HGNC:17158
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OMIM |
615698
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CCDS |
CCDS33027
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HPRD |
07148
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IMGT |
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EMBL |
AC010271
AC118344
BC000553
BC036327
BC096820
CH471126
U60644
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GenPept |
AAB16799
AAH00553
AAH36327
AAH96820
EAW56951
EAW56952
EAW56953
EAW56954
EAW56955
EAW56956
EAW56957
EAW56958
EAW56959
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