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PPHLN1 Gene(Protein Coding)

Periphilin 1

GCID:
GC12P042238
GIFtS:
52
Genes Participants
UDN Logo

Aliases for PPHLN1 Gene

Aliases for PPHLN1 Gene

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

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. GO annotations related to this gene include poly(A) RNA binding.

UniProtKB/Swiss-Prot 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). May be involved in epithelial differentiation by contributing to epidermal integrity and barrier formation (Probable).

Gene Wiki entry for PPHLN1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPHLN1 Gene

Genomics for PPHLN1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for PPHLN1 Gene

Enhancers for PPHLN1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PPHLN1 on UCSC Golden Path with GeneCards custom track

Promoters for PPHLN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PPHLN1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the PPHLN1 gene promoter:

Genomic Location for PPHLN1 Gene

Chromosome:
12
Start:
42,238,447 bp from pter
End:
42,459,715 bp from pter
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 Structure • Gene Density

RefSeq DNA sequence for PPHLN1 Gene

Proteins for PPHLN1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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 FAM208A/TASOR, PPHLN1 and MPHOSPH8 (PubMed:26022416). Interacts with SIN3A and HDAC1 (PubMed:17963697). Interacts with PPL (PubMed:12853457).
    SequenceCaution:
    • Sequence=AAH25306.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PPHLN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPHLN1 Gene

Proteomics data for PPHLN1 Gene at MOPED

Protein Expression for PPHLN1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PPHLN1 Gene

Other Protein References for PPHLN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PPHLN1 Gene

Domains & Families for PPHLN1 Gene

Protein Domains for PPHLN1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PPHLN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PPHLN1: view

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

Function for PPHLN1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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). May be involved in epithelial differentiation by contributing to epidermal integrity and barrier formation (Probable).

Phenotypes for PPHLN1 Gene

MGI mutant phenotypes for PPHLN1:
inferred from 1 alleles
GenomeRNAi human phenotypes for PPHLN1:
genes like me logo Genes that share phenotypes with PPHLN1: view

miRNA for PPHLN1 Gene

miRTarBase miRNAs that target PPHLN1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for PPHLN1 Gene COMPARTMENTS Subcellular localization image for PPHLN1 gene
Compartment Confidence
golgi apparatus 5
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for PPHLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with PPHLN1: view

Pathways & Interactions for PPHLN1 Gene

SuperPathways for PPHLN1 Gene

PathCards logoMore details on SuperPathways for PPHLN1
No Data Available

Gene Ontology (GO) - Biological Process for PPHLN1 Gene

None

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

Drugs & Compounds for PPHLN1 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for PPHLN1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for PPHLN1 Gene

(29) REFSEQ mRNAs :
(15) Additional mRNA sequences :
(298) Selected AceView cDNA sequences:
(26) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PPHLN1 Gene

Periphilin 1:
Representative Sequences:

Flow Cytometry 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
ECgene alternative splicing isoforms for
PPHLN1

Expression for PPHLN1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues for PPHLN1 Gene

mRNA expression in normal human tissues for PPHLN1 Gene
mRNA expression by BioGPS for PPHLN1 GenemRNA expression by GTEx for PPHLN1 Gene

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, PaxDb, MOPED, and MaxQB for PPHLN1 Gene



SOURCE GeneReport for Unigene cluster for PPHLN1 Gene Hs.444157

mRNA Expression by UniProt/SwissProt for PPHLN1 Gene

Q8NEY8-PPHLN_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with PPHLN1: view

Protein tissue co-expression partners for PPHLN1 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
dog
(Canis familiaris)
 Mammalia PPHLN1 35
  • 93.12 (n)
  • 93.03 (a)
PPHLN1 36
  • 88 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Pphln1 35
  • 85.29 (n)
  • 83.11 (a)
Pphln1 16
3110001I22Rik 36
  • 51 (a)
 OneToMany
Pphln1 36
  • 75 (a)
 OneToMany
chimpanzee
(Pan troglodytes)
 Mammalia PPHLN1 35
  • 99.82 (n)
  • 99.73 (a)
PPHLN1 36
  • 94 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Pphln1 35
  • 85.97 (n)
  • 83.91 (a)
cow
(Bos Taurus)
 Mammalia PPHLN1 36
  • 81 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia PPHLN1 36
  • 77 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia PPHLN1 36
  • 72 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves PPHLN1 35
  • 73.84 (n)
  • 73.45 (a)
PPHLN1 36
  • 67 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia PPHLN1 36
  • 56 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia MGC75908 35
pphln1 35
  • 61.85 (n)
  • 57.83 (a)
zebrafish
(Danio rerio)
 Actinopterygii pphln1 36
  • 30 (a)
 OneToMany
PPHLN1 (2 of 2) 36
  • 38 (a)
 OneToMany
Species with no ortholog for PPHLN1:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for PPHLN1 Gene

No data available for Paralogs for PPHLN1 Gene

Variants for PPHLN1 Gene

Sequence variations from dbSNP and Humsavar for PPHLN1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_036233 A breast cancer sample
rs1962526 -- 42,333,517(+) tcact(C/G)tgttg intron-variant
rs1966852 -- 42,415,951(-) CTAAC(A/T)GGAAC intron-variant
rs2053945 -- 42,376,523(-) aggca(C/T)gagct intron-variant
rs7133697 -- 42,369,566(+) atata(C/T)tattt intron-variant

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

Variant ID Type Subtype PubMed ID
esv270230 CNV Insertion 20981092

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for PPHLN1 Gene

Disorders for PPHLN1 Gene

Relevant External Links for PPHLN1

Genetic Association Database (GAD)
PPHLN1
Human Genome Epidemiology (HuGE) Navigator
PPHLN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PPHLN1

No disorders were found for PPHLN1 Gene.

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

Publications for PPHLN1 Gene

  1. Epigenetic silencing by the HUSH complex mediates position-effect variegation in human cells. (PMID: 26022416) Tchasovnikarova I.A. … Lehner P.J. (Science 2015) 3 4 67
  2. Identification of a novel locus associated with congenital recessive ichthyosis on 12p11.2-q13. (PMID: 16117785) Mizrachi-Koren M. … Sprecher E. (J. Invest. Dermatol. 2005) 3 23
  3. Massive parallel sequencing uncovers actionable FGFR2-PPHLN1 fusion and ARAF mutations in intrahepatic cholangiocarcinoma. (PMID: 25608663) Sia D. … Llovet J.M. (Nat Commun 2015) 3
  4. Interactions of the Antiviral Factor Interferon Gamma-Inducible Protein 16 (IFI16) Mediate Immune Signaling and Herpes Simplex Virus-1 Immunosuppression. (PMID: 25693804) Diner B.A. … Cristea I.M. (Mol. Cell Proteomics 2015) 3
  5. SR protein kinases promote splicing of nonconsensus introns. (PMID: 26167880) Lipp J.J. … Guthrie C. (Nat. Struct. Mol. Biol. 2015) 3

Products for PPHLN1 Gene

Sources for PPHLN1 Gene

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