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    PLD6 phospholipase D family member 6 [ Homo sapiens (human) ]

    Gene ID: 201164, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PLD6provided by HGNC
    Official Full Name
    phospholipase D family member 6provided by HGNC
    Primary source
    HGNC:HGNC:30447
    See related
    Ensembl:ENSG00000179598 MIM:614960; AllianceGenome:HGNC:30447
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ZUC
    Summary
    Enables cardiolipin hydrolase activity and protein homodimerization activity. Involved in mitochondrial fusion. Acts upstream of or within positive regulation of mitochondrial fusion. Located in mitochondrial outer membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 12.6), prostate (RPKM 3.8) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See PLD6 in Genome Data Viewer
    Location:
    17p11.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (17200995..17206333, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (17147036..17152468, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (17104309..17109647, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene myosin phosphatase Rho interacting protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17074887-17075546 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17075547-17076206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11790 Neighboring gene RNA, U6 small nuclear 767, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17088115-17088615 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11791 Neighboring gene RNA, 7SL, cytoplasmic 775, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11792 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17094445-17095112 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17095113-17095778 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8234 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11793 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8235 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8236 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8237 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17109841-17110680 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17132411-17132910 Neighboring gene folliculin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11794 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:17141243-17141428 Neighboring gene actin gamma 1 pseudogene 24

    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 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. Decreased piRNAs in Infertile Semen Are Related to Downregulation of Sperm MitoPLD Expression. Hong Y, et al. Front Endocrinol (Lausanne), 2021. PMID 34326815, Free PMC Article
    2. Measuring Phospholipase D Enzymatic Activity Through Biochemical and Imaging Methods. Philip F, et al. Methods Enzymol, 2017. PMID 28063496, Free PMC Article
    3. NME3 binds to phosphatidic acid and mediates PLD6-induced mitochondrial tethering. Su YA, et al. J Cell Biol, 2023 Oct 2. PMID 37584589, Free PMC Article
    4. A common lipid links Mfn-mediated mitochondrial fusion and SNARE-regulated exocytosis. Choi SY, et al. Nat Cell Biol, 2006 Nov. PMID 17028579
    5. Roles for the lipid-signaling enzyme MitoPLD in mitochondrial dynamics, piRNA biogenesis, and spermatogenesis. Gao Q, et al. BMB Rep, 2012 Jan. PMID 22281006, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NME3 binds to phosphatidic acid and mediates PLD6-induced mitochondrial tethering.
      Title: NME3 binds to phosphatidic acid and mediates PLD6-induced mitochondrial tethering.
    2. Decreased piRNAs in Infertile Semen Are Related to Downregulation of Sperm MitoPLD Expression.
      Title: Decreased piRNAs in Infertile Semen Are Related to Downregulation of Sperm MitoPLD Expression.
    3. Propose that MIGA proteins promote mitochondrial fusion by regulating mitochondrial phospholipid metabolism via MitoPLD.
      Title: Mitoguardin Regulates Mitochondrial Fusion through MitoPLD and Is Required for Neuronal Homeostasis.
    4. MitoPLD performs a critical function in a pathway that creates a specialized form of RNAi required by developing spermatocytes to suppress transposon mobilization during meiosis.
      Title: Roles for the lipid-signaling enzyme MitoPLD in mitochondrial dynamics, piRNA biogenesis, and spermatogenesis.
    5. Data suggest that mitochondrial-surface phosphatidic acid generated by MitoPLD/Zuc recruits or activates nuage components critical for piRNA production.
      Title: piRNA-associated germline nuage formation and spermatogenesis require MitoPLD profusogenic mitochondrial-surface lipid signaling.
    6. PLD6, aka MitoPLD, encodes an N-terminal mitochondrial localization sequence, localizes to the outer mitochondrial surface, generates phosphatidic acid, a signaling lipid, and triggers trans-mitochondrial association; involved in mitochondrial fusion.
      Title: A common lipid links Mfn-mediated mitochondrial fusion and SNARE-regulated exocytosis.
    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

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA endonuclease activity, producing 5'-phosphomonoesters IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cardiolipin hydrolase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in P granule organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in lipid catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in meiotic cell cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mitochondrial fusion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in piRNA processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within positive regulation of mitochondrial fusion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in spermatid development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    mitochondrial cardiolipin hydrolase
    Names
    PLD 6
    Zucchini endoribonuclease
    choline phosphatase 6
    mitoPLD
    mitochondrial phospholipase
    phosphatidylcholine-hydrolyzing phospholipase D6
    phospholipase D6
    protein zucchini homolog
    NP_849158.2
    XP_016879799.3
    XP_054171326.1

    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_178836.4 → NP_849158.2  mitochondrial cardiolipin hydrolase

      See identical proteins and their annotated locations for NP_849158.2

      Status: VALIDATED

      Source sequence(s)
      AC055811, AK090899, BC031263, DC326979
      Consensus CDS
      CCDS11182.1
      UniProtKB/Swiss-Prot
      Q8N2A8, Q8N5Y1
      Related
      ENSP00000317177.3, ENST00000321560.4
      Conserved Domains (2) summary
      cd09171
      Location:95 → 206
      PLDc_vPLD6_like; Catalytic domain of vertebrate phospholipase D6 and similar proteins
      pfam13091
      Location:95 → 206
      PLDc_2; PLD-like domain

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      17200995..17206333 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024310.3 → XP_016879799.3  mitochondrial cardiolipin hydrolase isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      17147036..17152468 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315351.1 → XP_054171326.1  mitochondrial cardiolipin hydrolase isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N2A8.1 GenPept UniProtKB/Swiss-Prot:Q8N2A8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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