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PPHLN1 Gene(Protein Coding)

Periphilin 1

GCID:
GC12P042238
GIFtS:
50
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
  • Periphilin-1 3
  • 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. Diseases associated with PPHLN1 include Intrahepatic Cholangiocarcinoma. 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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G042421 1.1 Ensembl ENCODE 11.3 +183.8 183780 1.6 PKNOX1 ATF1 TCF12 GATA2 CREM JUNB TBX21 ZNF592 POLR2H ZFP69B ENSG00000257225 PPHLN1 GC12M042426 RNU6-249P
GH12G042236 1.1 ENCODE 11.1 -1.0 -1048 4.1 PKNOX1 ARID4B SIN3A DMAP1 FEZF1 ZNF2 YY1 ZNF143 ZNF263 SP3 ENSG00000257225 PPHLN1 GXYLT1 ZCRB1 YAF2 GC12P042227
GH12G042468 1.2 Ensembl ENCODE 9.7 +231.3 231314 3.1 HDGF PKNOX1 FOXA2 ZFP64 CBX5 ZNF143 JUNB TBX21 ZNF518A NBN ZCRB1 PPHLN1 ENSG00000257225 ENSG00000258068
GH12G042472 1 Ensembl ENCODE 9.7 +235.5 235521 3.5 PKNOX1 JUN FEZF1 ZNF664 ZNF366 EED ZSCAN5C SCRT2 ZNF600 FOS ENSG00000257225 RNU6-249P PPHLN1 ENSG00000258068
GH12G042212 1 Ensembl ENCODE 8.6 -25.2 -25181 1.1 ZNF639 ESRRA ZNF740 NFIB NR4A1 GTF2A2 OSR2 E2F1 PRDM6 DIDO1 PPHLN1 GC12P042227 GC12P042195
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000050932 -547 2201 PKNOX1 ARID4B SIN3A DMAP1 FEZF1 ZNF2 YY1 ZNF143 ZNF263 SP3

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

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

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).

Gene Ontology (GO) - Molecular Function for PPHLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 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

miRNA for PPHLN1 Gene

miRTarBase miRNAs that target 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 5

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

SuperPathways for PPHLN1 Gene

PathCards logo More details on SuperPathways for PPHLN1
No Data Available

Gene Ontology (GO) - Biological Process for PPHLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0031424 keratinization IEA --
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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for PPHLN1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for PPHLN1 Gene

(34) 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:

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
ECgene alternative splicing isoforms for
PPHLN1

Expression for PPHLN1 Gene

Products:

  1. Primer

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



Protein tissue co-expression partners for PPHLN1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PPHLN1 Gene:

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(4.6)
  • Intestine(4.3)
  • Liver(4.3)
  • Blood(4.2)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with PPHLN1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 34 35
  • 99.82 (n)
dog
(Canis familiaris)
 Mammalia PPHLN1 34 35
  • 93.12 (n)
rat
(Rattus norvegicus)
 Mammalia Pphln1 34
  • 85.97 (n)
mouse
(Mus musculus)
 Mammalia Pphln1 34 16 35
  • 85.29 (n)
3110001I22Rik 35
  • 51 (a)
 OneToMany
cow
(Bos Taurus)
 Mammalia PPHLN1 35
  • 81 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia PPHLN1 35
  • 77 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia PPHLN1 35
  • 72 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves PPHLN1 34 35
  • 73.84 (n)
lizard
(Anolis carolinensis)
 Reptilia PPHLN1 35
  • 56 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia pphln1 34
  • 61.85 (n)
MGC75908 34
zebrafish
(Danio rerio)
 Actinopterygii PPHLN1 (2 of 2) 35
  • 38 (a)
 OneToMany
pphln1 35
  • 30 (a)
 OneToMany
Species where no ortholog for PPHLN1 was found in the sources mined by GeneCards:
  • 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
rs140585847 A breast cancer sample 42,384,945(+) AGTCC(A/G)TGCGT intron-variant, nc-transcript-variant, reference, missense
rs1000009284 -- 42,394,977(+) CAAGG(C/T)TTTAT intron-variant
rs1000011390 -- 42,353,073(+) GATAG(A/G)GCGAG intron-variant
rs1000019213 -- 42,355,549(+) CTGGC(C/T)AACAT intron-variant
rs1000094174 -- 42,439,546(+) GTCTC(A/G)CTCTG intron-variant

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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
intrahepatic cholangiocarcinoma
  • intrahepatic bile duct carcinoma
- elite association - COSMIC cancer census association via MalaCards

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
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. 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 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil S.A. … Gygi S.P. (Nat. Biotechnol. 2006) 3 4 64
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  5. 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 22 64

Products for PPHLN1 Gene

Sources for PPHLN1 Gene

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