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    PLD3 phospholipase D family member 3 [ Homo sapiens (human) ]

    Gene ID: 23646, updated on 5-May-2024

    Summary

    Official Symbol
    PLD3provided by HGNC
    Official Full Name
    phospholipase D family member 3provided by HGNC
    Primary source
    HGNC:HGNC:17158
    See related
    Ensembl:ENSG00000105223 MIM:615698; AllianceGenome:HGNC:17158
    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
    AD19; HUK4; HU-K4; SCA46
    Summary
    This gene encodes a member of the phospholipase D (PLD) family of enzymes that catalyze the hydrolysis of membrane phospholipids. The encoded protein is a single-pass type II membrane protein and contains two PLD phosphodiesterase domains. This protein influences processing of amyloid-beta precursor protein. Mutations in this gene are associated with Alzheimer disease risk. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2014]
    Expression
    Ubiquitous expression in brain (RPKM 96.3), spleen (RPKM 74.5) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PLD3 in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (40348695..40378485)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (43169216..43199111)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (40854602..40884392)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene AKT serine/threonine kinase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14647 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10619 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:40791573-40792404 Neighboring gene microRNA 641 Neighboring gene chromosome 19 open reading frame 47 Neighboring gene RNA, U6 small nuclear 945, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:40829016-40829516 Neighboring gene MPRA-validated peak3483 silencer Neighboring gene Sharpr-MPRA regulatory region 7250 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14648 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14649 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:40873853-40874018 Neighboring gene Sharpr-MPRA regulatory region 12346 Neighboring gene microRNA 6796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:40895441-40895990 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:40895991-40896540 Neighboring gene homeodomain interacting protein kinase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10621 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14650 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10622 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14651 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:40915393-40915986 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:40915987-40916578 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:40920095-40920743 Neighboring gene periaxin

    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?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with PLD3; predicted interaction to occur in the endoplasmic reticulum 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phospholipase D activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables single-stranded DNA 5'-3' DNA exonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in immune system process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in myotube differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cytokine production involved in inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    5'-3' exonuclease PLD3
    Names
    choline phosphatase 3
    hindIII K4L homolog
    phosphatidylcholine-hydrolyzing phospholipase D3
    NP_001026866.1
    NP_001278240.1
    NP_036400.2

    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_034098.1 RefSeqGene

      Range
      5271..35061
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001031696.4NP_001026866.1  5'-3' exonuclease PLD3

      See identical proteins and their annotated locations for NP_001026866.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 2. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      BC000553, BC096820, BQ640152, DB057420
      Consensus CDS
      CCDS33027.1
      UniProtKB/Swiss-Prot
      Q8IV08, Q92853, Q9BW87
      UniProtKB/TrEMBL
      A0A8V8TPY8
      Related
      ENSP00000348901.5, ENST00000356508.9
      Conserved Domains (1) summary
      cl28150
      Location:77490
      PLDc; Phospholipase D Active site motif
    2. NM_001291311.2NP_001278240.1  5'-3' exonuclease PLD3

      See identical proteins and their annotated locations for NP_001278240.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate 5' UTR exon, compared to variant 2. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      BC000553, BC096820, BP304863, BQ640152, U60644
      Consensus CDS
      CCDS33027.1
      UniProtKB/Swiss-Prot
      Q8IV08, Q92853, Q9BW87
      UniProtKB/TrEMBL
      A0A8V8TPY8
      Related
      ENSP00000387022.1, ENST00000409281.5
      Conserved Domains (1) summary
      cl28150
      Location:77490
      PLDc; Phospholipase D Active site motif
    3. NM_012268.4NP_036400.2  5'-3' exonuclease PLD3

      See identical proteins and their annotated locations for NP_036400.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longer transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      BC000553, BP304863, BQ640152, CX785201
      Consensus CDS
      CCDS33027.1
      UniProtKB/Swiss-Prot
      Q8IV08, Q92853, Q9BW87
      UniProtKB/TrEMBL
      A0A8V8TPY8
      Related
      ENSP00000386938.3, ENST00000409735.9
      Conserved Domains (1) summary
      cl28150
      Location:77490
      PLDc; Phospholipase D Active site motif

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      40348695..40378485
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      43169216..43199111
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)