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

Summary

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, Apr 2022]
Expression: Broad expression in testis (RPKM 12.6), prostate (RPKM 3.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p11.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (17200995..17206333, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (17147036..17152468, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (17104309..17109647, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NME3 binds to phosphatidic acid and mediates PLD6-induced mitochondrial tethering.
Title: NME3 binds to phosphatidic acid and mediates PLD6-induced mitochondrial tethering.
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.
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.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

RH78552 (e-PCR)
- UniSTS:73556

D1S1423 (e-PCR)
- UniSTS:149619

A006Y21 (e-PCR)
- UniSTS:74179

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
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

EC 3.1.4.4

XP_016879799.3

EC 3.1.4.4

XP_054171326.1

EC 3.1.4.4

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)

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