Seroatlas · Human Serome Atlas

PNKD

Probable thioesterase PNKD

Also known as: BRP17, DKFZp564N1362, DYT8, FKSG19, FPD1, KIAA1184, KIPP1184, MGC31943, MR-1, MR-1S, PDC, PKND1, PNKD_HUMAN, TAHCCP2

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

Protein identityUniProt · HPA

UniProt accession
Q8N490
Gene
PNKD
Ensembl
ENSG00000127838
Chromosome
2
Canonical length
385 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Mitochondria

OverviewNCBI Gene

This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

Canonical amino-acid sequenceUniProt

385 residues, UniProt reviewed canonical sequence.

>Q8N490|PNKD
     1  MAAVVAATAL KGRGARNARV LRGILAGATA NKASHNRTRA LQSHSSPEGK EEPEPLSPEL
    61  EYIPRKRGKN PMKAVGLAWY SLYTRTWLGY LFYRQQLRRA RNRYPKGHSK TQPRLFNGVK
   121  VLPIPVLSDN YSYLIIDTQA QLAVAVDPSD PRAVQASIEK EGVTLVAILC THKHWDHSGG
   181  NRDLSRRHRD CRVYGSPQDG IPYLTHPLCH QDVVSVGRLQ IRALATPGHT QGHLVYLLDG
   241  EPYKGPSCLF SGDLLFLSGC GRTFEGNAET MLSSLDTVLG LGDDTLLWPG HEYAEENLGF
   301  AGVVEPENLA RERKMQWVQR QRLERKGTCP STLGEERSYN PFLRTHCLAL QEALGPGPGP
   361  TGDDDYSRAQ LLEELRRLKD MHKSK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PNKD 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
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.29
Highest tissue expression
190 nTPM

Expression across tissuesHPA

Tissue

  • choroid plexus: 190 nTPM
  • basal ganglia: 109 nTPM
  • kidney: 106 nTPM
  • cerebral cortex: 105 nTPM
  • midbrain: 101 nTPM
  • liver: 100 nTPM

Single-cell type

  • parietal cells: 361 nCPM
  • epicardial cells: 316 nCPM
  • colonocytes: 310 nCPM
  • epididymal principal cells: 306 nCPM
  • hepatocytes: 282 nCPM
  • decidual stromal cells: 258 nCPM

Immune cell

  • memory B-cell: 224 nTPM
  • naive B-cell: 188 nTPM
  • eosinophil: 152 nTPM
  • T-reg: 150 nTPM
  • basophil: 143 nTPM
  • NK-cell: 136 nTPM

Brain region

  • cerebral cortex: 112 nTPM
  • hypothalamus: 87 nTPM
  • thalamus: 85 nTPM
  • basal ganglia: 77 nTPM
  • pons: 75 nTPM
  • cerebellum: 75 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PNKD.

Disease | AllUniProt

Conditions PNKD is implicated in, by any mechanism.

  • Paroxysmal non-kinesigenic dyskinesia 1 (PNKD1) MIM:118800

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 681 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Paroxysmal nonkinesigenic dyskinesia 1
  • Paroxysmal nonkinesigenic dyskinesia
  • Episodic hemiplegia
  • Paroxysmal dyskinesia
  • Paroxysmal dystonia

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)
1.14
gnomAD pLI
0
gnomAD missense Z
0.32
DepMap mean gene effect
0.02
DepMap dependency class
none

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

InteractionsUniProt · HPA

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

PNKD is annotated at the cell surface, where native PNKD is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

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

Canonical record: https://seroatlas.com/gene/PNKD. 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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