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

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

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PLPPR5 in Genome Data Viewer
    Location:
    1p21.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (98890245..99005786, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (98738338..98856692, complement)
    RS_2024_09 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 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 SNX7 divergent transcript 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001010861.3NP_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:118267
      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_001037317.2NP_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:118267
      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_2024_08

    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_011540838.4XP_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:102251
      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_054334713.1XP_054190688.1  phospholipid phosphatase-related protein type 5 isoform X1

      UniProtKB/TrEMBL
      B4DIM8