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 thi... See more...

Aliases for PPHLN1 Gene

Aliases for PPHLN1 Gene

  • Periphilin 1 2 3 5
  • Gastric Cancer Antigen Ga50 3 4
  • CDC7 Expression Repressor 3 4
  • Periphilin-1 3 4
  • CR 3 4
  • HSPC206 3
  • HSPC232 3
  • PPHLN1 5

External Ids for PPHLN1 Gene

Previous GeneCards Identifiers for PPHLN1 Gene

  • GC12P042619
  • GC12P042436
  • GC12P041006
  • GC12P040918
  • GC12P042719
  • GC12P039746
  • GC12P042632

Summaries for PPHLN1 Gene

Entrez Gene Summary for PPHLN1 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]

GeneCards Summary for PPHLN1 Gene

PPHLN1 (Periphilin 1) is a Protein Coding gene. Diseases associated with PPHLN1 include Ichthyosis and Fuchs' Endothelial Dystrophy.

UniProtKB/Swiss-Prot Summary for PPHLN1 Gene

  • Component of the HUSH complex, a multiprotein complex that mediates epigenetic repression. The HUSH complex is recruited to genomic loci rich in H3K9me3 and is probably required to maintain transcriptional silencing by promoting recruitment of SETDB1, a histone methyltransferase that mediates further deposition of H3K9me3. In the HUSH complex, contributes to the maintenance of the complex at chromatin (PubMed:26022416). Acts as a transcriptional corepressor and regulates the cell cycle, probably via the HUSH complex (PubMed:15474462, PubMed:17963697). The HUSH complex is also involved in the silencing of unintegrated retroviral DNA: some part of the retroviral DNA formed immediately after infection remains unintegrated in the host genome and is transcriptionally repressed (PubMed:30487602). May be involved in epithelial differentiation by contributing to epidermal integrity and barrier formation (PubMed:12853457).

Gene Wiki entry for PPHLN1 Gene

Additional gene information for PPHLN1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPHLN1 Gene

Genomics for PPHLN1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PPHLN1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPHLN1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPHLN1

Top Transcription factor binding sites by QIAGEN in the PPHLN1 gene promoter:
  • AML1a
  • FOXD3
  • FOXI1
  • HEN1
  • HFH-3
  • Ik-2
  • Pbx1a
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for PPHLN1 Gene

Genomic Locations for PPHLN1 Gene
chr12:42,238,447-42,459,715
(GRCh38/hg38)
Size:
221,269 bases
Orientation:
Plus strand
chr12:42,632,249-42,853,517
(GRCh37/hg19)
Size:
221,269 bases
Orientation:
Plus strand

Genomic View for PPHLN1 Gene

Genes around PPHLN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPHLN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPHLN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPHLN1 Gene

Proteins for PPHLN1 Gene

  • Protein details for PPHLN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NEY8-PPHLN_HUMAN
    Recommended name:
    Periphilin-1
    Protein Accession:
    Q8NEY8
    Secondary Accessions:
    • E9PAX8
    • Q86YT2
    • Q8IXN3
    • Q8TB09
    • Q96NB9
    • Q9NXL4
    • Q9P0P6
    • Q9P0R9

    Protein attributes for PPHLN1 Gene

    Size:
    458 amino acids
    Molecular mass:
    52737 Da
    Quaternary structure:
    • Homodimer (PubMed:12853457). Component of the HUSH complex; at least composed of TASOR, PPHLN1 and MPHOSPH8 (PubMed:26022416). Interacts with SIN3A and HDAC1 (PubMed:17963697). May interact with PPL (PubMed:12853457).
    SequenceCaution:
    • Sequence=AAH25306.1; Type=Erroneous initiation; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 5]: May be due to intron retention.
    • [Isoform 7]: May be due to intron retention.

    Alternative splice isoforms for PPHLN1 Gene

neXtProt entry for PPHLN1 Gene

Post-translational modifications for PPHLN1 Gene

No data available for DME Specific Peptides for PPHLN1 Gene

Domains & Families for PPHLN1 Gene

Gene Families for PPHLN1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PPHLN1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PPHLN1 Gene

GenScript: Design optimal peptide antigens:
  • Gastric cancer antigen Ga50 (PPHLN_HUMAN)
genes like me logo Genes that share domains with PPHLN1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PPHLN1 Gene

Function for PPHLN1 Gene

Molecular function for PPHLN1 Gene

UniProtKB/Swiss-Prot Function:
Component of the HUSH complex, a multiprotein complex that mediates epigenetic repression. The HUSH complex is recruited to genomic loci rich in H3K9me3 and is probably required to maintain transcriptional silencing by promoting recruitment of SETDB1, a histone methyltransferase that mediates further deposition of H3K9me3. In the HUSH complex, contributes to the maintenance of the complex at chromatin (PubMed:26022416). Acts as a transcriptional corepressor and regulates the cell cycle, probably via the HUSH complex (PubMed:15474462, PubMed:17963697). The HUSH complex is also involved in the silencing of unintegrated retroviral DNA: some part of the retroviral DNA formed immediately after infection remains unintegrated in the host genome and is transcriptionally repressed (PubMed:30487602). May be involved in epithelial differentiation by contributing to epidermal integrity and barrier formation (PubMed:12853457).

Phenotypes From GWAS Catalog for PPHLN1 Gene

Gene Ontology (GO) - Molecular Function for PPHLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with PPHLN1: view
genes like me logo Genes that share phenotypes with PPHLN1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPHLN1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPHLN1 Gene

Localization for PPHLN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPHLN1 Gene

Nucleus. Cytoplasm. Chromosome. Note=In undifferentiated keratinocytes expressed in speckle-type nuclear granules and at the nuclear membrane, but in the differentiated keratinocytes colocalized with periplakin at the cell periphery and at cell-cell junctions (PubMed:12853457). Localizes to chromatin (PubMed:26022416). {ECO:0000269 PubMed:12853457, ECO:0000269 PubMed:26022416}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PPHLN1 gene
Compartment Confidence
nucleus 5
cytosol 5
golgi apparatus 4
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PPHLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005694 chromosome IEA --
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IDA --
genes like me logo Genes that share ontologies with PPHLN1: view

Pathways & Interactions for PPHLN1 Gene

PathCards logo

SuperPathways for PPHLN1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PPHLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization IEA --
GO:0045814 negative regulation of gene expression, epigenetic IDA 26022416
GO:0045892 negative regulation of transcription, DNA-templated IEA --
GO:0090309 positive regulation of methylation-dependent chromatin silencing IDA 28581500
GO:0097355 protein localization to heterochromatin IDA 28581500
genes like me logo Genes that share ontologies with PPHLN1: view

No data available for Pathways by source and SIGNOR curated interactions for PPHLN1 Gene

Drugs & Compounds for PPHLN1 Gene

No Compound Related Data Available

Transcripts for PPHLN1 Gene

mRNA/cDNA for PPHLN1 Gene

21 REFSEQ mRNAs :
25 NCBI additional mRNA sequence :
26 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPHLN1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PPHLN1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12a · 12b · 12c · 12d ^ 13a · 13b ·
SP1: - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - - - -
SP4: - - - - - - - -
SP5: - - - - - - -
SP6: - - - - - -
SP7: - - - - - - - - - - -
SP8: - - - - - - -
SP9: - - - - - - -
SP10: - - - - - -
SP11: - - - - - - - - -
SP12: - - -
SP13: - -
SP14: - - - -
SP15:

ExUns: 13c ^ 14 ^ 15a · 15b ^ 16
SP1: - -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for PPHLN1 Gene

GeneLoc Exon Structure for
PPHLN1

Expression for PPHLN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PPHLN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

Protein differential expression in normal tissues from HIPED for PPHLN1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (24.9) and Fetal ovary (17.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PPHLN1 Gene



Protein tissue co-expression partners for PPHLN1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPHLN1

SOURCE GeneReport for Unigene cluster for PPHLN1 Gene:

Hs.444157

mRNA Expression by UniProt/SwissProt for PPHLN1 Gene:

Q8NEY8-PPHLN_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for PPHLN1 Gene

  • Nervous system(4.7)
  • Liver(4.4)
  • Skin(4.4)
  • Blood(4.3)
  • Intestine(4.3)
  • Heart(2.1)
  • Muscle(2)
genes like me logo Genes that share expression patterns with PPHLN1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPHLN1 Gene

Orthologs for PPHLN1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PPHLN1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PPHLN1 30 31
  • 99.82 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PPHLN1 30 31
  • 93.12 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pphln1 30
  • 85.97 (n)
Mouse
(Mus musculus)
Mammalia Pphln1 30 17 31
  • 85.29 (n)
OneToMany
3110001I22Rik 31
  • 51 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia PPHLN1 31
  • 81 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PPHLN1 31
  • 77 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PPHLN1 31
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PPHLN1 30 31
  • 73.84 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PPHLN1 31
  • 56 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pphln1 30
  • 61.85 (n)
MGC75908 30
Zebrafish
(Danio rerio)
Actinopterygii PPHLN1 (2 of 2) 31
  • 38 (a)
OneToMany
pphln1 31
  • 30 (a)
OneToMany
Species where no ortholog for PPHLN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PPHLN1 Gene

ENSEMBL:
Gene Tree for PPHLN1 (if available)
TreeFam:
Gene Tree for PPHLN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPHLN1: view image

Paralogs for PPHLN1 Gene

No data available for Paralogs for PPHLN1 Gene

Variants for PPHLN1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPHLN1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs140585847 A breast cancer sample p.Val173Met

Additional dbSNP identifiers (rs#s) for PPHLN1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PPHLN1 Gene

Variant ID Type Subtype PubMed ID
esv3431855 CNV insertion 20981092
nsv1048971 CNV gain 25217958

Variation tolerance for PPHLN1 Gene

Residual Variation Intolerance Score: 29.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.89; 35.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPHLN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPHLN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPHLN1 Gene

Disorders for PPHLN1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PPHLN1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
ichthyosis
  • ichthyoses
fuchs' endothelial dystrophy
  • fced
charcot-marie-tooth disease
  • peroneal muscular atrophy
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PPHLN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PPHLN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPHLN1 Gene

Publications for PPHLN1 Gene

  1. GENE SILENCING. Epigenetic silencing by the HUSH complex mediates position-effect variegation in human cells. (PMID: 26022416) Tchasovnikarova IA … Lehner PJ (Science (New York, N.Y.) 2015) 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  3. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  5. Identification of a novel locus associated with congenital recessive ichthyosis on 12p11.2-q13. (PMID: 16117785) Mizrachi-Koren M … Sprecher E (The Journal of investigative dermatology 2005) 3 23

Products for PPHLN1 Gene

Sources for PPHLN1 Gene