Seroatlas · Human Serome Atlas

PPHLN1

Periphilin-1

Also known as: PPHLN_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q8NEY8
Gene
PPHLN1
Ensembl
ENSG00000134283
Chromosome
12
Canonical length
458 aa
Protein class
Predicted intracellular proteins
Subcellular location
Nucleoplasm,Golgi apparatus
Quaternary structure
Homodimer

OverviewNCBI Gene

The protein encoded by this gene is one of the several proteins that become sequentially incorporated into the cornified cell envelope during the terminal differentiation of keratinocyte at the outer layers of epidermis. This protein interacts with periplakin, which is known as a precursor of the cornified cell envelope. The cellular localization pattern and insolubility of this protein suggest that it may play a role in epithelial differentiation and contribute to epidermal integrity and barrier formation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

458 residues, UniProt reviewed canonical sequence.

>Q8NEY8|PPHLN1
     1  MWSEGRYEYE RIPRERAPPR SHPSDGYNRL VNIVPKKPPL LDRPGEGSYN RYYSHVDYRD
    61  YDEGRSFSHD RRSGPPHRGD ESGYRWTRDD HSASRQPEYR DMRDGFRRKS FYSSHYARER
   121  SPYKRDNTFF RESPVGRKDS PHSRSGSSVS SRSYSPERSK SYSFHQSQHR KSVRPGASYK
   181  RQNEGNPERD KERPVQSLKT SRDTSPSSGS AVSSSKVLDK PSRLTEKELA EAASKWAAEK
   241  LEKSDESNLP EISEYEAGST APLFTDQPEE PESNTTHGIE LFEDSQLTTR SKAIASKTKE
   301  IEQVYRQDCE TFGMVVKMLI EKDPSLEKSI QFALRQNLHE IESAGQTWQQ VPPVRNTEMD
   361  HDGTPENEGE ETAQSAPQPP QAPQPLQPRK KRVRRTTQLR RTTGAPDITW GMLKKTTQEA
   421  ERILLRTQTP FTPENLFLAM LSVVHCNSRK DVKPENKQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PPHLN1 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)
0.66
Highest tissue expression
55 nTPM

Expression across tissuesHPA

Tissue

  • tonsil: 55 nTPM
  • lymph node: 55 nTPM
  • testis: 53 nTPM
  • thymus: 49 nTPM
  • bone marrow: 49 nTPM
  • urinary bladder: 35 nTPM

Single-cell type

  • late primary spermatocytes: 346 nCPM
  • gonadotrophs: 271 nCPM
  • cardiomyocytes: 237 nCPM
  • early spermatids: 226 nCPM
  • oocytes: 221 nCPM
  • podocytes: 192 nCPM

Immune cell

  • T-reg: 62 nTPM
  • basophil: 52 nTPM
  • NK-cell: 45 nTPM
  • memory CD8 T-cell: 45 nTPM
  • memory B-cell: 44 nTPM
  • eosinophil: 44 nTPM

Brain region

  • cerebral cortex: 53 nTPM
  • hypothalamus: 51 nTPM
  • cerebellum: 51 nTPM
  • white matter: 50 nTPM
  • basal ganglia: 49 nTPM
  • choroid plexus: 48 nTPM

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)
0.84
gnomAD pLI
0
gnomAD missense Z
0.76
DepMap mean gene effect
-0.23
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% 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

  • Periphilin-1
  • Periphilin-1, C-terminal domain
  • Periphilin C-terminal domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PPHLN1 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 PPHLN1 as an antibody target. Whether an autoantibody or antibody against PPHLN1 could matter depends on whether native PPHLN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PPHLN1 is annotated at the cell surface, where native PPHLN1 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 PPHLN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PPHLN1. 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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