Seroatlas · Human Serome Atlas

PLD6

Mitochondrial cardiolipin hydrolase

Also known as: PLD6_HUMAN, Zuc

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8N2A8
Gene: PLD6
Ensembl: ENSG00000179598
Chromosome: 17
Canonical length: 252 aa
Protein class: Metabolic proteins, Predicted membrane proteins
Quaternary structure: Homodimer

OverviewNCBI Gene

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, Jul 2025]

Canonical amino-acid sequenceUniProt

252 residues, UniProt reviewed canonical sequence.

>Q8N2A8|PLD6
     1  MGRLSWQVAA AAAVGLALTL EALPWVLRWL RSRRRRPRRE ALFFPSQVTC TEALLRAPGA
    61  ELAELPEGCP CGLPHGESAL SRLLRALLAA RASLDLCLFA FSSPQLGRAV QLLHQRGVRV
   121  RVVTDCDYMA LNGSQIGLLR KAGIQVRHDQ DPGYMHHKFA IVDKRVLITG SLNWTTQAIQ
   181  NNRENVLITE DDEYVRLFLE EFERIWEQFN PTKYTFFPPK KSHGSCAPPV SRAGGRLLSW
   241  HRTCGTSSES QT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PLD6 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0.38
Highest tissue expression: 21 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 21 nTPM
testis: 20 nTPM
hypothalamus: 9.2 nTPM
basal ganglia: 9 nTPM
colon: 8.6 nTPM
ovary: 7.9 nTPM

Single-cell type

oocytes: 60 nCPM
differentiating spermatogonia: 27 nCPM
late primary spermatocytes: 26 nCPM
early primary spermatocytes: 25 nCPM
undifferentiated spermatogonia: 24 nCPM
fallopian tube ciliated cells: 14 nCPM

Immune cell

naive CD4 T-cell: 12 nTPM
memory CD4 T-cell: 11 nTPM
MAIT T-cell: 9.9 nTPM
T-reg: 9.4 nTPM
NK-cell: 6.2 nTPM
memory CD8 T-cell: 6 nTPM

Brain region

midbrain: 21 nTPM
pons: 20 nTPM
hypothalamus: 17 nTPM
basal ganglia: 14 nTPM
cerebral cortex: 14 nTPM
hippocampal formation: 12 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PLD6.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 33 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Male infertility

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.76
gnomAD pLI: 0
gnomAD missense Z: 1.02
DepMap mean gene effect: -0.03
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

protein homodimerization activity
RNA endonuclease activity producing 5'-phosphomonoesters, hydrolytic mechanism
zinc ion binding
cardiolipin hydrolase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

Phospholipase D/Transphosphatidylase
Cardiolipin synthase-like, phospholipase D-like domain
PLD-like domain
Phospholipase D domain-containing protein

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PLD6 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PLD6 as an antibody target. Whether an autoantibody or antibody against PLD6 could matter depends on whether native PLD6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PLD6 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label PLD6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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