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    GPLD1 glycosylphosphatidylinositol specific phospholipase D1 [ Homo sapiens (human) ]

    Gene ID: 2822, updated on 5-Mar-2024

    Summary

    Official Symbol
    GPLD1provided by HGNC
    Official Full Name
    glycosylphosphatidylinositol specific phospholipase D1provided by HGNC
    Primary source
    HGNC:HGNC:4459
    See related
    Ensembl:ENSG00000112293 MIM:602515; AllianceGenome:HGNC:4459
    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
    PLD; GPIPLD; PIGPLD; GPIPLDM; PIGPLD1
    Summary
    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]
    Expression
    Biased expression in liver (RPKM 12.6), skin (RPKM 4.0) and 8 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See GPLD1 in Genome Data Viewer
    Location:
    6p22.3
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (24423969..24495287, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (24295865..24365025, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (24426060..24489806, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene doublecortin domain containing 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:24360012-24360600 Neighboring gene RNA, U6 small nuclear 391, pseudogene Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:24400121-24400856 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:24400857-24401592 Neighboring gene Sharpr-MPRA regulatory region 326 Neighboring gene kidney associated DCDC2 antisense RNA 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:24403801-24404535 Neighboring gene magnesium transporter MRS2 Neighboring gene MPRA-validated peak5733 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16989 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16990 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24153 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16991 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16992 Neighboring gene aldehyde dehydrogenase 5 family member A1 Neighboring gene uncharacterized LOC124901277 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:24538795-24539994 Neighboring gene NANOG hESC enhancer GRCh37_chr6:24547459-24547981 Neighboring gene KIAA0319 Neighboring gene MPRA-validated peak5735 silencer Neighboring gene keratin 8 pseudogene 43

    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 study identifies loci influencing concentrations of liver enzymes in plasma.
    EBI GWAS Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    EBI GWAS Catalog
    Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of glycosylphosphatidylinositol specific phospholipase D1 (GPLD1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC22590

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in GPI anchor release IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in GPI anchor release IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in GPI anchor release IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell migration involved in sprouting angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to calcium ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to cholesterol IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to insulin stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to pH IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to triglyceride IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to xenobiotic stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in chondrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in complement receptor mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in hematopoietic stem cell migration TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in hematopoietic stem cell migration to bone marrow TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in insulin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of triglyceride catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ossification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in phosphatidylcholine metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in phosphatidylcholine metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of alkaline phosphatase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of endothelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of glucose metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of high-density lipoprotein particle clearance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of membrane protein ectodomain proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of triglyceride biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of cellular response to insulin stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to glucose IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in transepithelial transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in extracellular exosome HDA PubMed 
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosomal membrane HDA PubMed 

    General protein information

    Preferred Names
    phosphatidylinositol-glycan-specific phospholipase D
    Names
    GPI-PLD
    GPI-specific phospholipase D
    PI-G PLD
    glycoprotein phospholipase D
    NP_001494.2
    XP_016866242.1
    XP_047274613.1
    XP_047274614.1
    XP_054211173.1
    XP_054211174.1

    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.

    Genomic

    1. NG_029888.2 RefSeqGene

      Range
      5045..68791
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001503.4NP_001494.2  phosphatidylinositol-glycan-specific phospholipase D precursor

      See identical proteins and their annotated locations for NP_001494.2

      Status: REVIEWED

      Source sequence(s)
      AJ308108, AL031230, AL359713, AY007546, BU587813, L11702
      Consensus CDS
      CCDS4553.1
      UniProtKB/Swiss-Prot
      P80108, Q15127, Q15128, Q2M2F2, Q5T3Y0, Q7Z6T8, Q8TCV0, Q8WW82, Q96ID6, Q9H167, Q9H4M1, Q9UJC9
      Related
      ENSP00000230036.1, ENST00000230036.2
      Conserved Domains (3) summary
      smart00191
      Location:446499
      Int_alpha; Integrin alpha (beta-propellor repeats)
      pfam00882
      Location:28211
      Zn_dep_PLPC; Zinc dependent phospholipase C
      pfam01839
      Location:514541
      FG-GAP; FG-GAP repeat

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      24423969..24495287 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017010753.3XP_016866242.1  phosphatidylinositol-glycan-specific phospholipase D isoform X3

    2. XM_047418657.1XP_047274613.1  phosphatidylinositol-glycan-specific phospholipase D isoform X1

    3. XM_047418658.1XP_047274614.1  phosphatidylinositol-glycan-specific phospholipase D isoform X2

    RNA

    1. XR_007059240.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      24295865..24365025 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355198.1XP_054211173.1  phosphatidylinositol-glycan-specific phospholipase D isoform X1

    2. XM_054355199.1XP_054211174.1  phosphatidylinositol-glycan-specific phospholipase D isoform X2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_177483.1: Suppressed sequence

      Description
      NM_177483.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.