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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PPHLN1
periphilin 1
Chromosome 12 · 12q12
NCBI Gene: 51535Ensembl: ENSG00000134283.18HGNC: HGNC:19369UniProt: F8W6A0
101PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingmRNA bindingprotein bindingnegative regulation of type I interferon productionsystemic lupus erythematosusactinic keratosisskin diseasehypothyroidism
✦AI Summary

PPHLN1 (periphilin 1) is an RNA-binding component of the HUSH (Human Silencing Hub) complex, a multiprotein epigenetic silencing machinery that represses mobile genetic elements including retroviruses and transposable elements 12. Within the HUSH complex, PPHLN1 functions alongside core components TASOR and MPP8 to maintain transcriptional silencing through recruitment to H3K9me3-rich genomic loci and subsequent promotion of SETDB1-mediated histone methylation 1. The protein specifically binds nascent transcripts of mobile genetic elements, enabling HUSH-dependent silencing mechanisms 2. PPHLN1 contributes to silencing unintegrated retroviral DNA that remains extrachromosomal after infection, working with NP220 and other silencing factors 2. The HUSH complex, including PPHLN1, shows striking colocalization with PRC1.6 components on chr12, particularly at active promoters, suggesting broader roles in transcriptional regulation 3. Clinically, PPHLN1 has oncogenic relevance through fusion proteins with FGFR2 in intrahepatic cholangiocarcinoma, where FGFR2-PPHLN1 fusions create constitutively active kinases that drive tumorigenesis 4. Additionally, PPHLN1 splicing regulation by OTX2 maintains stem cell programs in group 3 medulloblastoma 5.

Sources cited
1
PPHLN1 is a component of the HUSH complex that mediates epigenetic silencing and H3K9me3 maintenance
PMID: 26022416
2
PPHLN1 participates in silencing unintegrated retroviral DNA through the HUSH complex
PMID: 30487602
3
HUSH complex including PPHLN1 colocalizes with PRC1.6 on chromatin at active promoters
PMID: 39026796
4
FGFR2-PPHLN1 fusion proteins drive intrahepatic cholangiocarcinoma through oncogenic kinase activity
PMID: 31899106
5
OTX2-regulated PPHLN1 splicing maintains stem cell programs in group 3 medulloblastoma
PMID: 39025928
Disease Associationsⓘ20
systemic lupus erythematosusOpen Targets
0.28Weak
actinic keratosisOpen Targets
0.27Weak
skin diseaseOpen Targets
0.25Weak
hypothyroidismOpen Targets
0.24Weak
goutOpen Targets
0.22Weak
Unverricht-Lundborg diseaseOpen Targets
0.17Weak
Abnormality of the skeletal systemOpen Targets
0.16Weak
nephrolithiasisOpen Targets
0.08Suggestive
Miyoshi myopathyOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.06Suggestive
congenital rubellaOpen Targets
0.04Suggestive
colorectal carcinomaOpen Targets
0.04Suggestive
acute myeloid leukemiaOpen Targets
0.04Suggestive
Alzheimer diseaseOpen Targets
0.04Suggestive
alcohol drinkingOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
leukemiaOpen Targets
0.03Suggestive
Merkel cell skin cancerOpen Targets
0.03Suggestive
gliomaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PPLProtein interaction90%MPHOSPH8Protein interaction80%CASP5Protein interaction75%BICC1Protein interaction74%TASORProtein interaction72%TASOR2Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
64%
Heart
61%
Brain
56%
Lung
50%
Liver
46%
Gene Interaction Network
Click a node to explore
PPHLN1PPLMPHOSPH8CASP5BICC1TASORTASOR2
PROTEIN STRUCTURE
Preparing viewer…
PDB6SWG · 2.51 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.80LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.58 [0.43–0.80]
RankingsWhere PPHLN1 stands among ~20K protein-coding genes
  • #4,736of 20,598
    Most Researched101 · top quartile
  • #6,629of 17,882
    Most Constrained (LOEUF)0.80
Genes detectedPPHLN1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
FGFR inhibitors: Effects on cancer cells, tumor microenvironment and whole-body homeostasis (Review).
PMID: 27245147
Int J Mol Med · 2016
1.00
2
A group 3 medulloblastoma stem cell program is maintained by OTX2-mediated alternative splicing.
PMID: 39025928
Nat Cell Biol · 2024
0.90
3
GENE SILENCING. Epigenetic silencing by the HUSH complex mediates position-effect variegation in human cells.
PMID: 26022416
Science · 2015
0.80
4
NP220 mediates silencing of unintegrated retroviral DNA.
PMID: 30487602
Nature · 2018
0.70
5
The ERVK3-1 Microprotein Interacts with the HUSH Complex.
PMID: 40699144
Biochemistry · 2025
0.60