Human Gene PLD3 (uc002ono.3) Description and Page Index
  Description: Homo sapiens phospholipase D family, member 3 (PLD3), transcript variant 1, mRNA.
RefSeq Summary (NM_001031696): This gene encodes a member of the phospholipase D (PLD) family of enzymes that catalyze the hydrolysis of membrane phospholipids. The encoded protein is a single-pass type II membrane protein and contains two PLD phosphodiesterase domains. This protein influences processing of amyloid-beta precursor protein. Mutations in this gene are associated with Alzheimer disease risk. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2014].
Transcript (Including UTRs)
   Position: hg19 chr19:40,872,326-40,873,751 Size: 1,426 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg19 chr19:40,872,391-40,872,813 Size: 423 Coding Exon Count: 2 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsPathways
Other NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:40,872,326-40,873,751)mRNA (may differ from genome)Protein (107 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblExonPrimerGeneCardsGeneNetwork
H-INVHGNCLynxMGIPubMedStanford SOURCE
Wikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PLD3
CDC HuGE Published Literature: PLD3

-  MalaCards Disease Associations
  MalaCards Gene Search: PLD3
Diseases sorted by gene-association score: acute conjunctivitis (18), acute hemorrhagic conjunctivitis (18), conjunctival folliculosis (17), shipyard eye (13), conjunctival disease (10), inclusion conjunctivitis (8), alzheimer disease (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 490.02 RPKM in Pituitary
Total median expression: 4611.15 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -13.8065-0.212 Picture PostScript Text
3' UTR -352.10938-0.375 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  JF432185 - Synthetic construct Homo sapiens clone IMAGE:100073344 phospholipase D family, member 3 (PLD3) gene, encodes complete protein.
KJ893427 - Synthetic construct Homo sapiens clone ccsbBroadEn_02821 PLD3 gene, encodes complete protein.
BC036327 - Homo sapiens phospholipase D family, member 3, mRNA (cDNA clone MGC:35422 IMAGE:5189261), complete cds.
AK293690 - Homo sapiens cDNA FLJ59669 complete cds, highly similar to Homo sapiens phospholipase D family, member 3 (PLD3), transcript variant 1, mRNA.
BC096820 - Homo sapiens phospholipase D family, member 3, mRNA (cDNA clone MGC:111351 IMAGE:30558682), complete cds.
U60644 - Human HU-K4 mRNA, complete cds.
AY927565 - Homo sapiens mRNA sequence.
JD261148 - Sequence 242172 from Patent EP1572962.
JD538400 - Sequence 519424 from Patent EP1572962.
CU690326 - Synthetic construct Homo sapiens gateway clone IMAGE:100019641 5' read PLD3 mRNA.
AB529100 - Synthetic construct DNA, clone: pF1KB4417, Homo sapiens PLD3 gene for phospholipase D family, member 3, without stop codon, in Flexi system.
JD089817 - Sequence 70841 from Patent EP1572962.
JD180053 - Sequence 161077 from Patent EP1572962.
BC000553 - Homo sapiens phospholipase D family, member 3, mRNA (cDNA clone IMAGE:3163199), partial cds.
JD533313 - Sequence 514337 from Patent EP1572962.
JD138363 - Sequence 119387 from Patent EP1572962.
JD176194 - Sequence 157218 from Patent EP1572962.
JD333095 - Sequence 314119 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_cb1rPathway - Metabolism of Anandamide, an Endogenous Cannabinoid

-  Other Names for This Gene
  Alternate Gene Symbols: AY927565
UCSC ID: uc002ono.3
RefSeq Accession: NM_001031696

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene PLD3:
ataxias (Hereditary Ataxia Overview)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AY927565.1
exon count: 2CDS single in 3' UTR: no RNA size: 1308
ORF size: 324CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 847.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 1160# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.