Homo sapiens Protein: PLD6
Summary
InnateDB Protein IDBP-32728.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PLD6
Protein Name phospholipase D family, member 6
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000317177
InnateDB Gene IDBG-32726 (PLD6)
Protein Structure
UniProt Annotation
Function Regulates mitochondrial shape through facilitating mitochondrial fusion. During spermatogenesis, plays a critical role in PIWI-interacting RNA (piRNA) biogenesis (By similarity). piRNAs provide essential protection against the activity of mobile genetic elements. piRNA-mediated transposon silencing is thus critical for maintaining genome stability, in particular in germline cells when transposons are mobilized as a consequence of wide-spread genomic demethylation. Has been shown to be a backbone-non-specific, single strand-specific nuclease, cleaving either RNA or DNA substrates with similar affinity (By similarity). Produces 5' phosphate and 3' hydroxyl termini, suggesting it could directly participate in the processing of primary piRNA transcripts (By similarity). Has been proposed to act as a cardiolipin hydrolase to generate phosphatidic acid at mitochondrial surface. Although it cannot be excluded that it can act as a phospholipase in some circumstances, it should be noted that cardiolipin hydrolase activity is either undetectable in vitro, or very low (PubMed:21397848). In addition, cardiolipin is almost exclusively found on the inner mitochondrial membrane, while PLD6 localizes to the outer mitochondrial membrane, facing the cytosol. {ECO:0000250, ECO:0000269PubMed:17028579, ECO:0000269PubMed:21397848}.
Subcellular Localization Mitochondrion outer membrane {ECO:0000269PubMed:17028579}; Single-pass membrane protein {ECO:0000269PubMed:17028579}.
Disease Associations
Tissue Specificity Widely expressed. Expression is not limited to testis and ovary. {ECO:0000269PubMed:17028579, ECO:0000269PubMed:21397847}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0004519 endonuclease activity
GO:0035755 cardiolipin hydrolase activity
GO:0042803 protein homodimerization activity
GO:0046872 metal ion binding
Biological Process
GO:0006644 phospholipid metabolic process
GO:0006655 phosphatidylglycerol biosynthetic process
GO:0007126 meiotic nuclear division
GO:0007286 spermatid development
GO:0008053 mitochondrial fusion
GO:0008152 metabolic process
GO:0016042 lipid catabolic process
GO:0030719 P granule organization
GO:0034587 piRNA metabolic process
GO:0043046 DNA methylation involved in gamete generation
GO:0044281 small molecule metabolic process
GO:0046474 glycerophospholipid biosynthetic process
GO:0090305 nucleic acid phosphodiester bond hydrolysis
Cellular Component
GO:0005741 mitochondrial outer membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR001736 Phospholipase D/Transphosphatidylase
PFAM PF00614
PRINTS
PIRSF
SMART SM00155
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8N2A8
PhosphoSite PhosphoSite-Q8N2A8
TrEMBL
UniProt Splice Variant
Entrez Gene 201164
UniGene Hs.729079
RefSeq NP_849158
HUGO HGNC:30447
OMIM 614960
CCDS CCDS11182
HPRD 14126
IMGT
EMBL AC055811 AK090899 BC031263
GenPept AAH31263 BAC03541