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PLPPR5 phospholipid phosphatase related 5 [ Homo sapiens (human) ]

Gene ID: 163404, updated on 3-Apr-2024

Summary

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Official Symbol
PLPPR5provided by HGNC
Official Full Name
phospholipid phosphatase related 5provided by HGNC
Primary source
HGNC:HGNC:31703
See related
Ensembl:ENSG00000117598 MIM:617287; AllianceGenome:HGNC:31703
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PAP2; PRG5; LPPR5; PAP2D
Summary
The protein encoded by this gene is a type 2 member of the phosphatidic acid phosphatase (PAP) family. All type 2 members of this protein family contain 6 transmembrane regions, and a consensus N-glycosylation site. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 3.8), testis (RPKM 1.2) and 1 other tissue See more
Orthologs
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Genomic context

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Location:
1p21.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (98890245..99005786, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (98738338..98856692, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (99355801..99470417, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904229 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:98981623-98982822 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:99054546-99055107 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1111 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1113 Neighboring gene sorting nexin 7 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:99248941-99249530 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:99249531-99250120 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1357 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:99469275-99470249 Neighboring gene PLPPR5 antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr1:99543443-99543978 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:99649439-99649606 Neighboring gene Sharpr-MPRA regulatory region 9288 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:99770787-99771986 Neighboring gene phospholipid phosphatase related 4 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:99839496-99840695 Neighboring gene uncharacterized LOC107985093

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Cloning and characterization of a novel human phosphatidic acid phosphatase type 2, PAP2d, with two different transcripts PAP2d_v1 and PAP2d_v2. Sun L, et al. Mol Cell Biochem, 2005 Apr. PMID 16010976
  2. Identification of a genetic variant at 2q12.1 associated with blood pressure in East Asians by genome-wide scan including gene-environment interactions. Kim YK, et al. BMC Med Genet, 2014 Jun 5. PMID 24903457, Free PMC Article
  3. Plasticity-related gene 5 (PRG5) induces filopodia and neurite growth and impedes lysophosphatidic acid- and nogo-A-mediated axonal retraction. Broggini T, et al. Mol Biol Cell, 2010 Feb 15. PMID 20032306, Free PMC Article
  4. Genome-wide association scan of dental caries in the permanent dentition. Wang X, et al. BMC Oral Health, 2012 Dec 21. PMID 23259602, Free PMC Article
  5. GWAS of dental caries patterns in the permanent dentition. Shaffer JR, et al. J Dent Res, 2013 Jan. PMID 23064961, Free PMC Article

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  2. A novel human phosphatidic acid phosphatase type 2 isoform cDNAs (PAP2d) from the fetal brain cDNA library was cloned and characterized.
    Title: Cloning and characterization of a novel human phosphatidic acid phosphatase type 2, PAP2d, with two different transcripts PAP2d_v1 and PAP2d_v2.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association scan of dental caries in the permanent dentition.
EBI GWAS Catalog
GWAS of dental caries patterns in the permanent dentition.
EBI GWAS Catalog
Identification of a genetic variant at 2q12.1 associated with blood pressure in East-Asians by genome-wide scan including gene-environment interactions.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables phosphatidate phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in phospholipid dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in phospholipid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of filopodium assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
phospholipid phosphatase-related protein type 5
Names
PRG-5
lipid phosphate phosphatase-related protein type 5
phosphatidic acid phosphatase 2d
phosphatidic acid phosphatase type 2
phosphatidic acid phosphatase type 2d
plasticity-related gene 5 protein
plasticity-related protein 5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001010861.3 → NP_001010861.1  phospholipid phosphatase-related protein type 5 isoform 2

    See identical proteins and their annotated locations for NP_001010861.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), also known as PAP2d_v2, uses an alternate in-frame splice site in the coding region, compared to variant 1, resulting in a protein (isoform 2) that is shorter than isoform 1.
    Source sequence(s)
    AF131783, AY634620, BC040174, BF514931, R37934
    Consensus CDS
    CCDS30779.1
    UniProtKB/TrEMBL
    B4DIM8
    Related
    ENSP00000359207.3, ENST00000370188.7
    Conserved Domains (1) summary
    cd03384
    Location:118 → 267
    PAP2_wunen; PAP2, wunen subfamily. Most likely a family of membrane associated phosphatidic acid phosphatases. Wunen is a drosophila protein expressed in the central nervous system, which provides repellent activity towards primordial germ cells (PGCs), controls the ...

  2. NM_001037317.2 → NP_001032394.1  phospholipid phosphatase-related protein type 5 isoform 1

    See identical proteins and their annotated locations for NP_001032394.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), also known as PAP2d_v1, represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF131783, AY574039, BC040174, DR001828, R37934
    Consensus CDS
    CCDS30778.1
    UniProtKB/Swiss-Prot
    A8MPX4, B7UCH3, Q32ZD0, Q32ZL2, Q3ZCU7
    UniProtKB/TrEMBL
    B4DIM8
    Related
    ENSP00000263177.4, ENST00000263177.5
    Conserved Domains (1) summary
    cd03384
    Location:118 → 267
    PAP2_wunen; PAP2, wunen subfamily. Most likely a family of membrane associated phosphatidic acid phosphatases. Wunen is a drosophila protein expressed in the central nervous system, which provides repellent activity towards primordial germ cells (PGCs), controls the ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    98890245..99005786 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011540838.4 → XP_011539140.1  phospholipid phosphatase-related protein type 5 isoform X1

    See identical proteins and their annotated locations for XP_011539140.1

    UniProtKB/TrEMBL
    B4DIM8
    Conserved Domains (1) summary
    cd03384
    Location:102 → 251
    PAP2_wunen; PAP2, wunen subfamily. Most likely a family of membrane associated phosphatidic acid phosphatases. Wunen is a drosophila protein expressed in the central nervous system, which provides repellent activity towards primordial germ cells (PGCs), controls the ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    98738338..98856692 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054334713.1 → XP_054190688.1  phospholipid phosphatase-related protein type 5 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q32ZL2.2 GenPept UniProtKB/Swiss-Prot:Q32ZL2

Gene LinkOut

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