This gene encodes a member of the plasticity-related gene (PRG) family. Members of the PRG family mediate lipid phosphate phosphatase activity in neurons and are known to be involved in neuronal plasticity. The protein encoded by this gene does not perform its function through enzymatic phospholipid degradation. This gene is strongly expressed in brain. It shows dynamic express... See more...

Aliases for PLPPR1 Gene

Aliases for PLPPR1 Gene

  • Phospholipid Phosphatase Related 1 2 3 5
  • LPPR1 2 3 4
  • PRG-3 2 3 4
  • Lipid Phosphate Phosphatase-Related Protein Type 1 3 4
  • Phospholipid Phosphatase-Related Protein Type 1 3 4
  • Plasticity-Related Gene 3 Protein 3 4
  • Plasticity Related Gene 3 3
  • MGC26189 2
  • FLJ20300 2
  • PLPPR1 5
  • PRG3 4

External Ids for PLPPR1 Gene

Summaries for PLPPR1 Gene

Entrez Gene Summary for PLPPR1 Gene

  • This gene encodes a member of the plasticity-related gene (PRG) family. Members of the PRG family mediate lipid phosphate phosphatase activity in neurons and are known to be involved in neuronal plasticity. The protein encoded by this gene does not perform its function through enzymatic phospholipid degradation. This gene is strongly expressed in brain. It shows dynamic expression regulation during brain development and neuronal excitation. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]

GeneCards Summary for PLPPR1 Gene

PLPPR1 (Phospholipid Phosphatase Related 1) is a Protein Coding gene. Diseases associated with PLPPR1 include Cone-Rod Dystrophy 2. Among its related pathways are Signaling by GPCR and Lysosphingolipid and LPA receptors. An important paralog of this gene is PLPPR5.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLPPR1 Gene

Genomics for PLPPR1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PLPPR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J101028 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 256.6 +0.1 133 1.9 ZNF600 ZMYM3 ZIC2 MXD4 ZNF217 KMT2B FOXA2 CTBP1 SAP130 DMAP1 PLPPR1 lnc-BAAT-3 BAAT
GH09J101184 Promoter 0.9 EPDnew 250.1 +156.3 156289 0.1 YY1 MXD4 HOMEZ THAP11 FOXA2 KDM6A SMAD4 RXRA SAP130 ETV4 PLPPR1 piR-39300-124 HSALNG0073299 BAAT
GH09J100756 Promoter 0.3 EPDnew 250.1 -271.8 -271821 0.1 PLPPR1 ACTG1P19 LOC105376179 CAVIN4
GH09J101097 Enhancer 0.6 Ensembl ENCODE 23.6 +69.9 69874 5.2 RAD21 POU5F1 NANOG MNT PLPPR1 MSANTD3 piR-52680-366 lnc-ZNF189-5 BAAT
GH09J100472 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 5 -554.6 -554567 3.3 ZNF10 POLR2A NFIC NONO REST ZNF341 ZNF217 SIN3A CTBP1 KLF9 TMEFF1 MSANTD3-TMEFF1 MSANTD3 PLPPR1 lnc-TEX10-1 CAVIN4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLPPR1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLPPR1

Genomic Locations for PLPPR1 Gene

Latest Assembly
chr9:101,028,727-101,325,135
(GRCh38/hg38)
Size:
296,409 bases
Orientation:
Plus strand

Previous Assembly
chr9:103,791,009-104,087,417
(GRCh37/hg19 by Entrez Gene)
Size:
296,409 bases
Orientation:
Plus strand

chr9:103,790,991-104,087,417
(GRCh37/hg19 by Ensembl)
Size:
296,427 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr9(ALT_REF_LOCI_1):79,930-376,338 (+)

Genomic View for PLPPR1 Gene

Genes around PLPPR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLPPR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLPPR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLPPR1 Gene

Proteins for PLPPR1 Gene

  • Protein details for PLPPR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TBJ4-PLPR1_HUMAN
    Recommended name:
    Phospholipid phosphatase-related protein type 1
    Protein Accession:
    Q8TBJ4
    Secondary Accessions:
    • Q5VX23
    • Q9NXE2

    Protein attributes for PLPPR1 Gene

    Size:
    325 amino acids
    Molecular mass:
    35795 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PLPPR1 Gene

Post-translational modifications for PLPPR1 Gene

  • Glycosylation at Asn5, Asn163, and Asn316
  • Modification sites at PhosphoSitePlus

Other Protein References for PLPPR1 Gene

No data available for DME Specific Peptides for PLPPR1 Gene

Domains & Families for PLPPR1 Gene

Gene Families for PLPPR1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for PLPPR1 Gene

InterPro:
Blocks:
  • PA-phosphatase related phosphoesterase

Suggested Antigen Peptide Sequences for PLPPR1 Gene

GenScript: Design optimal peptide antigens:
  • Plasticity-related gene 3 protein (LPPR1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TBJ4

UniProtKB/Swiss-Prot:

PLPR1_HUMAN :
  • Belongs to the PA-phosphatase related phosphoesterase family.
Family:
  • Belongs to the PA-phosphatase related phosphoesterase family.
genes like me logo Genes that share domains with PLPPR1: view

Function for PLPPR1 Gene

Phenotypes From GWAS Catalog for PLPPR1 Gene

Gene Ontology (GO) - Molecular Function for PLPPR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
GO:0008195 phosphatidate phosphatase activity IBA 21873635
GO:0042577 lipid phosphatase activity IBA 21873635
genes like me logo Genes that share ontologies with PLPPR1: view
genes like me logo Genes that share phenotypes with PLPPR1: view

miRNA for PLPPR1 Gene

miRTarBase miRNAs that target PLPPR1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLPPR1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PLPPR1 Gene

Localization for PLPPR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLPPR1 Gene

Membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLPPR1 gene
Compartment Confidence
plasma membrane 4
nucleus 4
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PLPPR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PLPPR1: view

Pathways & Interactions for PLPPR1 Gene

genes like me logo Genes that share pathways with PLPPR1: view

SIGNOR curated interactions for PLPPR1 Gene

Activates:

Gene Ontology (GO) - Biological Process for PLPPR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006644 phospholipid metabolic process IBA 21873635
GO:0007165 signal transduction IBA 21873635
GO:0007399 nervous system development IEA --
GO:0016311 dephosphorylation IEA --
GO:0046839 phospholipid dephosphorylation IBA 21873635
genes like me logo Genes that share ontologies with PLPPR1: view

Drugs & Compounds for PLPPR1 Gene

No Compound Related Data Available

Transcripts for PLPPR1 Gene

mRNA/cDNA for PLPPR1 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLPPR1

Alternative Splicing Database (ASD) splice patterns (SP) for PLPPR1 Gene

No ASD Table

Relevant External Links for PLPPR1 Gene

GeneLoc Exon Structure for
PLPPR1

Expression for PLPPR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLPPR1

Evidence on tissue expression from TISSUES for PLPPR1 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with PLPPR1: view

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLPPR1 Gene

Orthologs for PLPPR1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PLPPR1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia -- 30
  • 100 (a)
OneToOne
LOC464621 29
  • 99.59 (n)
Dog
(Canis familiaris)
Mammalia -- 30
  • 98 (a)
OneToOne
LPPR1 29
  • 94.26 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 94 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia LPPR1 29 30
  • 93.64 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia E130309F12Rik 29 30
  • 90.67 (n)
OneToOne
Plppr1 16
Rat
(Rattus norvegicus)
Mammalia Lppr1 29
  • 90.56 (n)
Chicken
(Gallus gallus)
Aves -- 30
  • 93 (a)
OneToOne
LOC427306 29
  • 82.46 (n)
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 91 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia lppr1 29
  • 76 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14883 29
Zebrafish
(Danio rerio)
Actinopterygii lppr1 29
  • 70.4 (n)
CABZ01115322.1 30
  • 63 (a)
OneToOne
Species where no ortholog for PLPPR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PLPPR1 Gene

ENSEMBL:
Gene Tree for PLPPR1 (if available)
TreeFam:
Gene Tree for PLPPR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLPPR1: view image
Alliance of Genome Resources:
Additional Orthologs for PLPPR1

Paralogs for PLPPR1 Gene

genes like me logo Genes that share paralogs with PLPPR1: view

Variants for PLPPR1 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PLPPR1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PLPPR1 Gene

Variant ID Type Subtype PubMed ID
esv2738838 CNV deletion 23290073
esv3305389 CNV mobile element insertion 20981092
esv3331347 CNV insertion 20981092
esv3384480 CNV insertion 20981092
esv3545205 CNV deletion 23714750
esv3573318 CNV loss 25503493
esv3621244 CNV loss 21293372
nsv1037157 CNV loss 25217958
nsv1049740 CNV gain 25217958
nsv1146324 CNV duplication 26484159
nsv466443 CNV loss 19166990
nsv472003 CNV novel sequence insertion 20440878
nsv481465 CNV novel sequence insertion 20440878
nsv614961 CNV loss 21841781
nsv831669 CNV gain 17160897
nsv831671 CNV gain 17160897
nsv982331 CNV duplication 23825009

Variation tolerance for PLPPR1 Gene

Residual Variation Intolerance Score: 14.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.71; 32.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLPPR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLPPR1
Leiden Open Variation Database (LOVD)
PLPPR1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLPPR1 Gene

Disorders for PLPPR1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PLPPR1 Gene - From: COP

Disorder Aliases PubMed IDs
cone-rod dystrophy 2
  • cord2
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PLPPR1

genes like me logo Genes that share disorders with PLPPR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PLPPR1 Gene

Publications for PLPPR1 Gene

  1. Molecular cloning and expression regulation of PRG-3, a new member of the plasticity-related gene family. (PMID: 14750979) Savaskan NE … Nitsch R (The European journal of neuroscience 2004) 2 3 4 22
  2. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. (PMID: 32814053) Haenig C … Wanker EE (Cell reports 2020) 3
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3

Products for PLPPR1 Gene

Sources for PLPPR1 Gene