Human Gene PLD3 (uc002onj.4)
Description: Homo sapiens phospholipase D family, member 3 (PLD3), transcript variant 2, mRNA.RefSeq Summary (NM_012268): 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 chr19:40,854,332-40,884,390 Size: 30,059 Total Exon Count: 13 Strand: +Coding Region Position: hg19 chr19:40,872,391-40,884,080 Size: 11,690 Coding Exon Count: 11
Data last updated at UCSC: 2013-06-14
Sequence and Links to Tools and Databases
Comments and Description Text from UniProtKB
ID: PLD3_HUMAN DESCRIPTION: RecName: Full=Phospholipase D3; Short=PLD 3; EC=3.1.4.4; AltName: Full=Choline phosphatase 3; AltName: Full=HindIII K4L homolog; AltName: Full=Hu-K4; AltName: Full=Phosphatidylcholine-hydrolyzing phospholipase D3;CATALYTIC ACTIVITY: A phosphatidylcholine + H(2)O = choline + a phosphatidate.INTERACTION: P19838:NFKB1; NbExp=2; IntAct=EBI-2689908, EBI-300010;SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type II membrane protein.TISSUE SPECIFICITY: Widely expressed. Expressed at higher level in brain. Expressed at low level in corpus callosum, suggesting that it is highly expressed in neurons.PTM: Glycosylated.SIMILARITY: Belongs to the phospholipase D family.SIMILARITY: Contains 2 PLD phosphodiesterase domains.SEQUENCE CAUTION: Sequence=AAB16799.1; Type=Frameshift; Positions=52;
Primer design for this transcript
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): PLD3
CDC HuGE Published Literature: PLD3
MalaCards Disease Associations
Comparative Toxicogenomics Database (CTD)
Common Gene Haplotype Alleles
Press "+" in the title bar above to open this section.
RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
Press "+" in the title bar above to open this section.
mRNA Secondary Structure of 3' and 5' UTRs
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.
Protein Domain and Structure Information
InterPro Domains: Graphical view of domain structure IPR001736 - PLipase_D/transphosphatidylasePfam Domains: PF00614 - Phospholipase D Active site motifPF13091 - PLD-like domainPF13918 - PLD-like domainSCOP Domains: 56024 - Phospholipase D/nucleaseModBase Predicted Comparative 3D Structure on Q8IV08 The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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.
Gene Ontology (GO) Annotations with Structured Vocabulary
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.JD124758 - Sequence 105782 from Patent EP1572962.JD391822 - Sequence 372846 from Patent EP1572962.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.MS906548 - Sequence 102 from Patent WO2017059902.MS909354 - Sequence 102 from Patent WO2017060314.MS906549 - Sequence 103 from Patent WO2017059902.MS909355 - Sequence 103 from Patent WO2017060314.MS906546 - Sequence 100 from Patent WO2017059902.MS909352 - Sequence 100 from Patent WO2017060314.MS906547 - Sequence 101 from Patent WO2017059902.MS909353 - Sequence 101 from Patent WO2017060314.MS906550 - Sequence 104 from Patent WO2017059902.MS909356 - Sequence 104 from Patent WO2017060314.MS906536 - Sequence 90 from Patent WO2017059902.MS909342 - Sequence 90 from Patent WO2017060314.MS906537 - Sequence 91 from Patent WO2017059902.MS909343 - Sequence 91 from Patent WO2017060314.MS906543 - Sequence 97 from Patent WO2017059902.MS906544 - Sequence 98 from Patent WO2017059902.MS909349 - Sequence 97 from Patent WO2017060314.MS909350 - Sequence 98 from Patent WO2017060314.MS906542 - Sequence 96 from Patent WO2017059902.MS909348 - Sequence 96 from Patent WO2017060314.MS906545 - Sequence 99 from Patent WO2017059902.MS909351 - Sequence 99 from Patent WO2017060314.MS906538 - Sequence 92 from Patent WO2017059902.MS909344 - Sequence 92 from Patent WO2017060314.MS906539 - Sequence 93 from Patent WO2017059902.MS909345 - Sequence 93 from Patent WO2017060314.MS906540 - Sequence 94 from Patent WO2017059902.MS909346 - Sequence 94 from Patent WO2017060314.MS906541 - Sequence 95 from Patent WO2017059902.MS909347 - Sequence 95 from Patent WO2017060314.JD131834 - Sequence 112858 from Patent EP1572962.JD131835 - Sequence 112859 from Patent EP1572962.JD418443 - Sequence 399467 from Patent EP1572962.JD525498 - Sequence 506522 from Patent EP1572962.JD271889 - Sequence 252913 from Patent EP1572962.JD418370 - Sequence 399394 from Patent EP1572962.JD417539 - Sequence 398563 from Patent EP1572962.JD282795 - Sequence 263819 from Patent EP1572962.JD191310 - Sequence 172334 from Patent EP1572962.JD215082 - Sequence 196106 from Patent EP1572962.JD387212 - Sequence 368236 from Patent EP1572962.JD327525 - Sequence 308549 from Patent EP1572962.MP573215 - Sequence 102 from Patent EP3636764.MP573216 - Sequence 103 from Patent EP3636764.MP573213 - Sequence 100 from Patent EP3636764.MP573214 - Sequence 101 from Patent EP3636764.MP573217 - Sequence 104 from Patent EP3636764.MP573203 - Sequence 90 from Patent EP3636764.MP573204 - Sequence 91 from Patent EP3636764.MP573210 - Sequence 97 from Patent EP3636764.MP573211 - Sequence 98 from Patent EP3636764.MP573209 - Sequence 96 from Patent EP3636764.MP573212 - Sequence 99 from Patent EP3636764.MP573205 - Sequence 92 from Patent EP3636764.MP573206 - Sequence 93 from Patent EP3636764.MP573207 - Sequence 94 from Patent EP3636764.MP573208 - Sequence 95 from Patent EP3636764.
Biochemical and Signaling Pathways
Other Names for This Gene
Alternate Gene Symbols: NM_012268, NP_036400, PLD3_HUMAN, Q8IV08, Q92853, Q9BW87UCSC ID: uc002onj.4RefSeq Accession: NM_012268 Protein: Q8IV08
(aka PLD3_HUMAN)CCDS: CCDS33027.1
GeneReviews for This Gene
GeneReviews article(s) related to gene PLD3:ataxias
Gene Model Information
category:
coding
nonsense-mediated-decay:
no
RNA accession:
NM_012268.2
exon count:
13 CDS single in 3' UTR:
no
RNA size:
2424 ORF size:
1473 CDS single in intron:
no
Alignment % ID:
100.00 txCdsPredict score:
3048.50 frame shift in genome:
no
% Coverage:
99.22 has start codon:
yes
stop codon in genome:
no
# of Alignments:
1 has end codon:
yes
retained intron:
no
# AT/AC introns
0 selenocysteine:
no
end bleed into intron:
0 # 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.
US Server
