Seroatlas · Human Serome Atlas

PRF1

Perforin-1

Also known as: HPLH2, P1, PERF_HUMAN, PFP

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

Protein identityUniProt · HPA

UniProt accession
P14222
Gene
PRF1
Ensembl
ENSG00000180644
Chromosome
10
Canonical length
555 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location
Cytosol
Secretome location
Intracellular and membrane
Quaternary structure
Homooligomer

OverviewNCBI Gene

This gene encodes a protein with structural similarities to complement component C9 that is important in immunity. This protein forms membrane pores that allow the release of granzymes and subsequent cytolysis of target cells. Whether pore formation occurs in the plasma membrane of target cells or in an endosomal membrane inside target cells is subject to debate. Mutations in this gene are associated with a variety of human disease including diabetes, multiple sclerosis, lymphomas, autoimmune lymphoproliferative syndrome (ALPS), aplastic anemia, and familial hemophagocytic lymphohistiocytosis type 2 (FHL2), a rare and lethal autosomal recessive disorder of early childhood. [provided by RefSeq, Aug 2017]

Canonical amino-acid sequenceUniProt

555 residues, UniProt reviewed canonical sequence.

>P14222|PRF1
     1  MAARLLLLGI LLLLLPLPVP APCHTAARSE CKRSHKFVPG AWLAGEGVDV TSLRRSGSFP
    61  VDTQRFLRPD GTCTLCENAL QEGTLQRLPL ALTNWRAQGS GCQRHVTRAK VSSTEAVARD
   121  AARSIRNDWK VGLDVTPKPT SNVHVSVAGS HSQAANFAAQ KTHQDQYSFS TDTVECRFYS
   181  FHVVHTPPLH PDFKRALGDL PHHFNASTQP AYLRLISNYG THFIRAVELG GRISALTALR
   241  TCELALEGLT DNEVEDCLTV EAQVNIGIHG SISAEAKACE EKKKKHKMTA SFHQTYRERH
   301  SEVVGGHHTS INDLLFGIQA GPEQYSAWVN SLPGSPGLVD YTLEPLHVLL DSQDPRREAL
   361  RRALSQYLTD RARWRDCSRP CPPGRQKSPR DPCQCVCHGS AVTTQDCCPR QRGLAQLEVT
   421  FIQAWGLWGD WFTATDAYVK LFFGGQELRT STVWDNNNPI WSVRLDFGDV LLATGGPLRL
   481  QVWDQDSGRD DDLLGTCDQA PKSGSHEVRC NLNHGHLKFR YHARCLPHLG GGTCLDYVPQ
   541  MLLGEPPGNR SGAVW

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PRF1 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
2
Mean surface accessibility (rSASA)
0.27
Highest tissue expression
46 nTPM

Expression across tissuesHPA

Tissue

  • spleen: 46 nTPM
  • bone marrow: 27 nTPM
  • lymph node: 19 nTPM
  • lung: 16 nTPM
  • appendix: 7.2 nTPM
  • liver: 5.9 nTPM

Single-cell type

  • nk-cells: 738 nCPM
  • t-cells: 134 nCPM
  • innate lymphoid cells: 15 nCPM
  • thymocytes: 6.8 nCPM
  • hepatic stellate cells: 6.5 nCPM
  • schwann cells: 6.5 nCPM

Immune cell

  • gdT-cell: 901 nTPM
  • NK-cell: 657 nTPM
  • MAIT T-cell: 629 nTPM
  • total PBMC: 586 nTPM
  • memory CD8 T-cell: 498 nTPM
  • naive CD8 T-cell: 313 nTPM

Brain region

  • medulla oblongata: 3 nTPM
  • spinal cord: 2.9 nTPM
  • choroid plexus: 2.8 nTPM
  • pons: 2.3 nTPM
  • thalamus: 2.2 nTPM
  • white matter: 2.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PRF1.

Disease | AllUniProt

Conditions PRF1 is implicated in, by any mechanism.

  • Hemophagocytic lymphohistiocytosis, familial, 2 (FHL2) MIM:603553

Disease | GeneticClinVar

147 pathogenic / likely-pathogenic of 764 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
1.19
gnomAD pLI
0
gnomAD missense Z
0.02
DepMap mean gene effect
0.02
DepMap dependency class
none

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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PRF1 as an antibody target. Whether an autoantibody or antibody against PRF1 could matter depends on whether native PRF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PRF1 is annotated at the cell surface, where native PRF1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Source-annotated serology context

The source annotations explicitly mention antibody, autoantibody, autoantigen, or autoimmune context. This is biological context, not study-specific reactivity.

  • Mutations in this gene are associated with a variety of human disease including diabetes, multiple sclerosis, lymphomas, autoimmune lymphoproliferative syndrome (ALPS), aplastic anemia, and familial hemophagocytic lymphohistiocytosis type 2 (FHL2), a rare and lethal autosomal recessive disorder of early childhood.

Canonical record: https://seroatlas.com/gene/PRF1. 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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