Human Gene GPLD1 (ENST00000230036.2) from GENCODE V44
  Description: Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), mRNA. (from RefSeq NM_001503)
RefSeq Summary (NM_001503): Many proteins are tethered to the extracellular face of eukaryotic plasma membranes by a glycosylphosphatidylinositol (GPI) anchor. The GPI-anchor is a glycolipid found on many blood cells. The protein encoded by this gene is a GPI degrading enzyme. Glycosylphosphatidylinositol specific phospholipase D1 hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans, thereby releasing the attached protein from the plasma membrane. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Gencode Transcript: ENST00000230036.2
Gencode Gene: ENSG00000112293.15
Transcript (Including UTRs)
   Position: hg38 chr6:24,425,832-24,489,578 Size: 63,747 Total Exon Count: 25 Strand: -
Coding Region
   Position: hg38 chr6:24,429,032-24,489,511 Size: 60,480 Coding Exon Count: 25 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:24,425,832-24,489,578)mRNA (may differ from genome)Protein (840 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PHLD_HUMAN
DESCRIPTION: RecName: Full=Phosphatidylinositol-glycan-specific phospholipase D; Short=PI-G PLD; EC=3.1.4.50; AltName: Full=Glycoprotein phospholipase D; AltName: Full=Glycosyl-phosphatidylinositol-specific phospholipase D; Short=GPI-PLD; Short=GPI-specific phospholipase D; Flags: Precursor;
FUNCTION: This protein hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans (GPI-anchor) thus releasing these proteins from the membrane.
CATALYTIC ACTIVITY: 6-(alpha-D-glucosaminyl)-1-phosphatidyl-1D- myo-inositol + H(2)O = 6-(alpha-D-glucosaminyl)-1D-myo-inositol + phosphatidate.
SUBUNIT: Monomer (Potential).
SUBCELLULAR LOCATION: Secreted.
SIMILARITY: Belongs to the GPLD1 family.
SIMILARITY: Contains 7 FG-GAP repeats.
SEQUENCE CAUTION: Sequence=AAA36444.1; Type=Miscellaneous discrepancy; Note=This sequence has numerous of conflicts with the human genome;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.37 RPKM in Brain - Cerebellum
Total median expression: 59.44 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -18.3067-0.273 Picture PostScript Text
3' UTR -962.903200-0.301 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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013517 - FG-GAP
IPR001028 - Gprt_PLipase_D
IPR013519 - Int_alpha_beta-p
IPR008947 - PLipase_C/P1_nuclease

Pfam Domains:
PF01839 - FG-GAP repeat
PF00882 - Zinc dependent phospholipase C

ModBase Predicted Comparative 3D Structure on P80108
FrontTopSide
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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologGenome Browser
Gene Details    Gene Details
Gene Sorter    Gene Sorter
MGIRGD   SGD
Protein SequenceProtein Sequence   Protein Sequence
AlignmentAlignment   Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004621 glycosylphosphatidylinositol phospholipase D activity
GO:0004630 phospholipase D activity
GO:0016787 hydrolase activity
GO:0017080 sodium channel regulator activity

Biological Process:
GO:0001503 ossification
GO:0002042 cell migration involved in sprouting angiogenesis
GO:0002062 chondrocyte differentiation
GO:0002430 complement receptor mediated signaling pathway
GO:0006501 C-terminal protein lipidation
GO:0006507 GPI anchor release
GO:0008285 negative regulation of cell proliferation
GO:0008286 insulin receptor signaling pathway
GO:0009749 response to glucose
GO:0010595 positive regulation of endothelial cell migration
GO:0010694 positive regulation of alkaline phosphatase activity
GO:0010867 positive regulation of triglyceride biosynthetic process
GO:0010897 negative regulation of triglyceride catabolic process
GO:0010907 positive regulation of glucose metabolic process
GO:0010983 positive regulation of high-density lipoprotein particle clearance
GO:0032869 cellular response to insulin stimulus
GO:0035690 cellular response to drug
GO:0035701 hematopoietic stem cell migration
GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus
GO:0043065 positive regulation of apoptotic process
GO:0045919 positive regulation of cytolysis
GO:0046470 phosphatidylcholine metabolic process
GO:0051044 positive regulation of membrane protein ectodomain proteolysis
GO:0051047 positive regulation of secretion
GO:0070633 transepithelial transport
GO:0071277 cellular response to calcium ion
GO:0071397 cellular response to cholesterol
GO:0071401 cellular response to triglyceride
GO:0071467 cellular response to pH
GO:0097241 hematopoietic stem cell migration to bone marrow
GO:1900076 regulation of cellular response to insulin stimulus

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005622 intracellular
GO:0005737 cytoplasm
GO:0005765 lysosomal membrane
GO:0031012 extracellular matrix
GO:0043231 intracellular membrane-bounded organelle
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  JD293367 - Sequence 274391 from Patent EP1572962.
L11702 - Human phospholipase D mRNA, complete cds.
JD437577 - Sequence 418601 from Patent EP1572962.
JD490782 - Sequence 471806 from Patent EP1572962.
JD279985 - Sequence 261009 from Patent EP1572962.
JD304405 - Sequence 285429 from Patent EP1572962.
JD202664 - Sequence 183688 from Patent EP1572962.
JD214199 - Sequence 195223 from Patent EP1572962.
JD469865 - Sequence 450889 from Patent EP1572962.
JD287796 - Sequence 268820 from Patent EP1572962.
JD499461 - Sequence 480485 from Patent EP1572962.
JD488959 - Sequence 469983 from Patent EP1572962.
JD530998 - Sequence 512022 from Patent EP1572962.
JD297889 - Sequence 278913 from Patent EP1572962.
L11701 - Human phospholipase D mRNA, complete cds.
JD548027 - Sequence 529051 from Patent EP1572962.
BC007614 - Homo sapiens, clone IMAGE:3354070, mRNA, partial cds.
AJ308108 - Homo sapiens mRNA for glycosylphosphatidylinositol phospholipase D (GPLD1 gene).
JD224950 - Sequence 205974 from Patent EP1572962.
JD267987 - Sequence 249011 from Patent EP1572962.
JD121910 - Sequence 102934 from Patent EP1572962.
JD252992 - Sequence 234016 from Patent EP1572962.
AY007546 - Homo sapiens glycosylphosphatidylinositol-specific phospholipase D precursor (GPIPLDM) mRNA, partial cds.
JD531890 - Sequence 512914 from Patent EP1572962.
JD558635 - Sequence 539659 from Patent EP1572962.
BC156271 - Synthetic construct Homo sapiens clone IMAGE:100061719, MGC:190081 glycosylphosphatidylinositol specific phospholipase D1 (GPLD1) mRNA, encodes complete protein.
BC157056 - Synthetic construct Homo sapiens clone IMAGE:100063355, MGC:190759 glycosylphosphatidylinositol specific phospholipase D1 (GPLD1) mRNA, encodes complete protein.
AK310692 - Homo sapiens cDNA, FLJ17734.
AK308639 - Homo sapiens cDNA, FLJ98680.
BC020748 - Homo sapiens glycosylphosphatidylinositol specific phospholipase D1, mRNA (cDNA clone IMAGE:4711131), complete cds.
BC112001 - Homo sapiens glycosylphosphatidylinositol specific phospholipase D1, transcript variant 2, mRNA (cDNA clone IMAGE:8327469), complete cds.
BC093645 - Homo sapiens glycosylphosphatidylinositol specific phospholipase D1, mRNA (cDNA clone IMAGE:7939490), complete cds.
KJ896911 - Synthetic construct Homo sapiens clone ccsbBroadEn_06305 GPLD1 gene, encodes complete protein.
CU676688 - Synthetic construct Homo sapiens gateway clone IMAGE:100022074 5' read GPLD1 mRNA.
JD062462 - Sequence 43486 from Patent EP1572962.
JD493728 - Sequence 474752 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00563 - Glycosylphosphatidylinositol(GPI)-anchor biosynthesis

BioCarta from NCI Cancer Genome Anatomy Project
h_arapPathway - ADP-Ribosylation Factor

Reactome (by CSHL, EBI, and GO)

Protein P80108 (Reactome details) participates in the following event(s):

R-HSA-8940388 GPLD1 hydrolyses GPI-anchors from proteins
R-HSA-163125 Post-translational modification: synthesis of GPI-anchored proteins
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000230036.1, NM_001503, P80108, PHLD_HUMAN, PIGPLD1, Q15127, Q15128, Q2M2F2, Q5T3Y0, Q7Z6T8, Q8TCV0, Q8WW82, Q96ID6, Q9H167, Q9H4M1, Q9UJC9, uc003ned.1, uc003ned.2, uc003ned.3, uc003ned.4
UCSC ID: ENST00000230036.2
RefSeq Accession: NM_001503
Protein: P80108 (aka PHLD_HUMAN)
CCDS: CCDS4553.1

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