Seroatlas · Human Serome Atlas

PNPLA6

Patatin-like phospholipase domain-containing protein 6

Also known as: iPLA2delta, NTE, PLPL6_HUMAN, SPG39, sws

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

Protein identityUniProt · HPA

UniProt accession
Q8IY17
Gene
PNPLA6
Ensembl
ENSG00000032444
Chromosome
19
Canonical length
1375 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Endoplasmic reticulum,Cytosol

OverviewNCBI Gene

This gene encodes a phospholipase that deacetylates intracellular phosphatidylcholine to produce glycerophosphocholine. It is thought to function in neurite outgrowth and process elongation during neuronal differentiation. The protein is anchored to the cytoplasmic face of the endoplasmic reticulum in both neurons and non-neuronal cells. Mutations in this gene result in autosomal recessive spastic paraplegia, and the protein is the target for neurodegeneration induced by organophosphorus compounds and chemical warfare agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

Canonical amino-acid sequenceUniProt

1375 residues, UniProt reviewed canonical sequence.

>Q8IY17|PNPLA6
     1  MEAPLQTGMM GTSSHGLATN SSGAKVAERD GFQDVLAPGE GSAGRICGAQ PVPFVPQVLG
    61  VMIGAGVAVV VTAVLILLVV RRLRVPKTPA PDGPRYRFRK RDKVLFYGRK IMRKVSQSTS
   121  SLVDTSVSAT SRPRMRKKLK MLNIAKKILR IQKETPTLQR KEPPPAVLEA DLTEGDLANS
   181  HLPSEVLYML KNVRVLGHFE KPLFLELCRH MVFQRLGQGD YVFRPGQPDA SIYVVQDGLL
   241  ELCLPGPDGK ECVVKEVVPG DSVNSLLSIL DVITGHQHPQ RTVSARAARD STVLRLPVEA
   301  FSAVFTKYPE SLVRVVQIIM VRLQRVTFLA LHNYLGLTNE LFSHEIQPLR LFPSPGLPTR
   361  TSPVRGSKRM VSTSATDEPR ETPGRPPDPT GAPLPGPTGD PVKPTSLETP SAPLLSRCVS
   421  MPGDISGLQG GPRSDFDMAY ERGRISVSLQ EEASGGSLAA PARTPTQEPR EQPAGACEYS
   481  YCEDESATGG CPFGPYQGRQ TSSIFEAAKQ ELAKLMRIED PSLLNSRVLL HHAKAGTIIA
   541  RQGDQDVSLH FVLWGCLHVY QRMIDKAEDV CLFVAQPGEL VGQLAVLTGE PLIFTLRAQR
   601  DCTFLRISKS DFYEIMRAQP SVVLSAAHTV AARMSPFVRQ MDFAIDWTAV EAGRALYRQG
   661  DRSDCTYIVL NGRLRSVIQR GSGKKELVGE YGRGDLIGVV EALTRQPRAT TVHAVRDTEL
   721  AKLPEGTLGH IKRRYPQVVT RLIHLLSQKI LGNLQQLQGP FPAGSGLGVP PHSELTNPAS
   781  NLATVAILPV CAEVPMVAFT LELQHALQAI GPTLLLNSDI IRARLGASAL DSIQEFRLSG
   841  WLAQQEDAHR IVLYQTDASL TPWTVRCLRQ ADCILIVGLG DQEPTLGQLE QMLENTAVRA
   901  LKQLVLLHRE EGAGPTRTVE WLNMRSWCSG HLHLRCPRRL FSRRSPAKLH ELYEKVFSRR
   961  ADRHSDFSRL ARVLTGNTIA LVLGGGGARG CSHIGVLKAL EEAGVPVDLV GGTSIGSFIG
  1021  ALYAEERSAS RTKQRAREWA KSMTSVLEPV LDLTYPVTSM FTGSAFNRSI HRVFQDKQIE
  1081  DLWLPYFNVT TDITASAMRV HKDGSLWRYV RASMTLSGYL PPLCDPKDGH LLMDGGYINN
  1141  LPADIARSMG AKTVIAIDVG SQDETDLSTY GDSLSGWWLL WKRLNPWADK VKVPDMAEIQ
  1201  SRLAYVSCVR QLEVVKSSSY CEYLRPPIDC FKTMDFGKFD QIYDVGYQYG KAVFGGWSRG
  1261  NVIEKMLTDR RSTDLNESRR ADVLAFPSSG FTDLAEIVSR IEPPTSYVSD GCADGEESDC
  1321  LTEYEEDAGP DCSRDEGGSP EGASPSTASE MEEEKSILRQ RRCLPQEPPG SATDA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PNPLA6 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)
0.36
Highest tissue expression
41 nTPM

Expression across tissuesHPA

Tissue

  • spleen: 41 nTPM
  • lung: 39 nTPM
  • cerebral cortex: 37 nTPM
  • testis: 35 nTPM
  • skeletal muscle: 35 nTPM
  • pituitary gland: 31 nTPM

Single-cell type

  • late spermatids: 193 nCPM
  • kupffer cells: 123 nCPM
  • late primary spermatocytes: 109 nCPM
  • oocytes: 97 nCPM
  • early spermatids: 71 nCPM
  • enterocytes: 67 nCPM

Immune cell

  • eosinophil: 38 nTPM
  • non-classical monocyte: 35 nTPM
  • intermediate monocyte: 20 nTPM
  • basophil: 16 nTPM
  • myeloid DC: 12 nTPM
  • classical monocyte: 11 nTPM

Brain region

  • cerebral cortex: 122 nTPM
  • thalamus: 108 nTPM
  • pons: 108 nTPM
  • medulla oblongata: 104 nTPM
  • white matter: 100 nTPM
  • midbrain: 99 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PNPLA6.

Disease | AllUniProt

Conditions PNPLA6 is implicated in, by any mechanism.

Disease | GeneticClinVar

123 pathogenic / likely-pathogenic of 1,521 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Hereditary spastic paraplegia 39
  • Ataxia-hypogonadism-choroidal dystrophy syndrome
  • Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
  • Laurence-Moon syndrome
  • PNPLA6-related disorder

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)
0.64
gnomAD pLI
0
gnomAD missense Z
4.35
DepMap mean gene effect
-0.1
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PNPLA6 as an antibody target. Whether an autoantibody or antibody against PNPLA6 could matter depends on whether native PNPLA6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PNPLA6 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 PNPLA6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PNPLA6. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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