Aliases for PPHLN1 Gene
Aliases for PPHLN1 Gene
External Ids for PPHLN1 Gene
- HGNC: 19369
- Entrez Gene: 51535
- Ensembl: ENSG00000134283
- OMIM: 608150
- UniProtKB: Q8NEY8
Previous GeneCards Identifiers for PPHLN1 Gene
- GC12P042619
- GC12P042436
- GC12P041006
- GC12P040918
- GC12P042719
- GC12P039746
- GC12P042632
Summaries 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.
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).
Additional gene information 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
GeneHancer (GH) Regulatory Elements for PPHLN1 Gene
Promoters and enhancers for PPHLN1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around PPHLN1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the PPHLN1 gene promoter:
Regulatory Element Products
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)
Genomic View for PPHLN1 Gene
Genes around PPHLN1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q12 by Ensembl
- 12q12 by Entrez Gene
- 12q12 by HGNC
PPHLN1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for PPHLN1 Gene
Post-translational modifications for PPHLN1 Gene
- Substrate of transglutaminase (in vitro).
- Ubiquitination at Lys328
Other Protein References for PPHLN1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- NP_001137259.1
- NP_001137260.1
- NP_001137261.1
- NP_057572.5
- NP_958846.1
- NP_958847.1
- NP_958848.1
- NP_958923.1
- XP_005269019.1
- XP_011536761.1
- XP_011536767.1
- XP_011536769.1
- XP_011536772.1
- XP_011536773.1
- XP_016874923.1
- XP_016874924.1
- XP_016874925.1
- XP_016874926.1
- XP_016874927.1
- XP_016874928.1
- XP_016874929.1
- XP_016874930.1
- XP_016874931.1
- XP_016874932.1
- XP_016874933.1
- XP_016874934.1
- XP_016874935.1
- XP_016874936.1
- XP_016874937.1
- XP_016874938.1
- XP_016874939.1
- XP_016874940.1
- XP_016874941.1
- XP_016874942.1
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for PPHLN1
- Novus Biologicals Antibodies for PPHLN1
-
Abcam antibodies for PPHLN1
- Invitrogen Antibodies for PPHLN1
- Search GeneTex for Antibodies for PPHLN1
-
Custom Antibody ServicesProSci Antibodies for PPHLN1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for PPHLN1
- Origene Custom Protein Services for PPHLN1
- antibodies-online: Search results for 7 available PPHLN1 Proteins ranked by validation data
- Compare Top PPHLN1 Proteins
-
Quality Products:
- Search GeneTex for Proteins for PPHLN1
-
Abcam proteins for PPHLN1
Assay Products
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
Suggested Antigen Peptide Sequences for PPHLN1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for 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). May be involved in epithelial differentiation by contributing to epidermal integrity and barrier formation (Probable).
Phenotypes From GWAS Catalog for PPHLN1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003723 | RNA binding | HDA | 22658674 |
| GO:0005515 | protein binding | IPI | 25416956 |
Phenotypes for PPHLN1 Gene
- MGI mutant phenotypes for PPHLN1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for PPHLN1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for PPHLN1
-
- Search ViGene Biosciences for PPHLN1
CRISPR Products
-
OriGene CRISPR knockouts for PPHLN1
- genomics-online: gRNA clones - Search results for 177 available PPHLN1 gene related products
- Overview of 177 available PPHLN1 gene related products
-
Recommended
- Applied Biological Materials CRISPR for PPHLN1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PPHLN1
- GenScript: Design CRISPR guide RNA sequences for PPHLN1
miRNA for PPHLN1 Gene
- miRTarBase miRNAs that target PPHLN1
miRNA Products
- Search ViGene Biosciences for PPHLN1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for PPHLN1
- Browse OriGene Inhibitory RNA Products For PPHLN1
- genomics-online: shRNA clones - Search results for 177 available PPHLN1 gene related products
- Overview of 177 available PPHLN1 gene related products
-
Recommended
Clone Products
-
OriGene ORF clones in human for PPHLN1
- RG216262
- RC216262L2
- RC216262L1
- RC216262
- RG222352
- RC222352L2
- RC222352L1
- RC222352
- RG219288
- RC219288L2
- RC219288L1
- RC219288
- RG208045
- RC208045L2
- RC208045L1
- RC208045
- RG215736
- RC215736L2
- RC215736L1
- RC215736
- RG227699
- RC227699L2
- RC227699L1
- RC227699
- RG227683
- RC227683L2
- RC227683L1
- RC227683
- RG227664
- RC227664L2
- RC227664L1
- RC227664
- RC216262L2V
- RC216262L1V
- RC222352L2V
- RC222352L1V
- RC219288L2V
- RC219288L1V
- RC208045L2V
- RC208045L1V
- RC215736L2V
- RC215736L1V
- RC227699L2V
- RC227699L1V
- RC227683L2V
- RC227683L1V
- RC227664L2V
- RC227664L1V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
-
GenScript: Next-day shipping of latest version cDNA ORF clones for PPHLN1 in any vector
- XM_011538467.1
- XM_011538464.1
- NM_201439.1
- XM_011538461.1
- XM_005268965.2
- NM_016488.6
- XM_011538458.1
- XM_011538473.1
- NM_001143789.1
- XM_011538471.1
- XM_011538468.1
- XM_011538465.1
- XM_011538462.1
- NM_201438.1
- NM_201515.1
- XM_011538459.1
- XM_011538470.1
- XM_005268962.2
- XM_011538457.1
- NM_001143787.1
- XM_011538475.1
- XM_011538460.1
- NM_201440.1
- XM_011538463.1
- XM_011538466.1
- XM_011538469.1
- XM_011538472.1
- NM_001143788.1
- XM_011538474.1
- Sino Biological Human cDNA Clone for PPHLN1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for PPHLN1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PPHLN1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for 177 available PPHLN1 gene related products
- Overview of 177 available PPHLN1 gene related products
-
Recommended
- orf clones - Search results for 177 available PPHLN1 gene related products
- Overview of 177 available PPHLN1 gene related products
-
Recommended
- Applied Biological Materials Clones for PPHLN1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for PPHLN1
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}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| golgi apparatus | 5 |
- Nucleoplasm (4)
- Golgi apparatus (2)
| 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 | -- |
Pathways & Interactions for PPHLN1 Gene
No Data Available
Interacting Proteins for PPHLN1 Gene
Selected Interacting proteins:
ENSP00000378935
Q8NEY8-PPHLN_HUMAN
for PPHLN1 Gene via
STRING
UniProtKB
IID
MINT
| 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 | -- |
| GO:0045892 | negative regulation of transcription, DNA-templated | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for PPHLN1 Gene
Transcripts for PPHLN1 Gene
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 :
CRISPR Products
-
OriGene CRISPR knockouts for PPHLN1
- genomics-online: gRNA clones - Search results for 177 available PPHLN1 gene related products
- Overview of 177 available PPHLN1 gene related products
-
Recommended
- Applied Biological Materials CRISPR for PPHLN1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PPHLN1
- GenScript: Design CRISPR guide RNA sequences for PPHLN1
miRNA Products
- Search ViGene Biosciences for PPHLN1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for PPHLN1
- Browse OriGene Inhibitory RNA Products For PPHLN1
- genomics-online: shRNA clones - Search results for 177 available PPHLN1 gene related products
- Overview of 177 available PPHLN1 gene related products
-
Recommended
Clone Products
-
OriGene ORF clones in human for PPHLN1
- RG216262
- RC216262L2
- RC216262L1
- RC216262
- RG222352
- RC222352L2
- RC222352L1
- RC222352
- RG219288
- RC219288L2
- RC219288L1
- RC219288
- RG208045
- RC208045L2
- RC208045L1
- RC208045
- RG215736
- RC215736L2
- RC215736L1
- RC215736
- RG227699
- RC227699L2
- RC227699L1
- RC227699
- RG227683
- RC227683L2
- RC227683L1
- RC227683
- RG227664
- RC227664L2
- RC227664L1
- RC227664
- RC216262L2V
- RC216262L1V
- RC222352L2V
- RC222352L1V
- RC219288L2V
- RC219288L1V
- RC208045L2V
- RC208045L1V
- RC215736L2V
- RC215736L1V
- RC227699L2V
- RC227699L1V
- RC227683L2V
- RC227683L1V
- RC227664L2V
- RC227664L1V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
-
GenScript: Next-day shipping of latest version cDNA ORF clones for PPHLN1 in any vector
- XM_011538467.1
- XM_011538464.1
- NM_201439.1
- XM_011538461.1
- XM_005268965.2
- NM_016488.6
- XM_011538458.1
- XM_011538473.1
- NM_001143789.1
- XM_011538471.1
- XM_011538468.1
- XM_011538465.1
- XM_011538462.1
- NM_201438.1
- NM_201515.1
- XM_011538459.1
- XM_011538470.1
- XM_005268962.2
- XM_011538457.1
- NM_001143787.1
- XM_011538475.1
- XM_011538460.1
- NM_201440.1
- XM_011538463.1
- XM_011538466.1
- XM_011538469.1
- XM_011538472.1
- NM_001143788.1
- XM_011538474.1
- Sino Biological Human cDNA Clone for PPHLN1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for PPHLN1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PPHLN1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for 177 available PPHLN1 gene related products
- Overview of 177 available PPHLN1 gene related products
-
Recommended
- orf clones - Search results for 177 available PPHLN1 gene related products
- Overview of 177 available PPHLN1 gene related products
-
Recommended
- Applied Biological Materials Clones for PPHLN1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression 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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of PPHLN1 Gene:
PPHLN1SOURCE GeneReport for Unigene cluster for PPHLN1 Gene:
Hs.444157mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for PPHLN1
-
OriGene qPCR primer pairs and template standards for PPHLN1
- genomics-online: primer clones - Search results for 177 available PPHLN1 gene related products
- Overview of 177 available PPHLN1 gene related products
-
Recommended
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PPHLN1 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | PPHLN1 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Pphln1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Pphln1 33 16 34 |
|
||
| 3110001I22Rik 34 |
|
OneToMany | |||
| cow (Bos Taurus) |
Mammalia | PPHLN1 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | PPHLN1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | PPHLN1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PPHLN1 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | PPHLN1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pphln1 33 |
|
||
| MGC75908 33 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | PPHLN1 (2 of 2) 34 |
|
OneToMany | |
| pphln1 34 |
|
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)
Paralogs for PPHLN1 Gene
No data available for Paralogs for PPHLN1 Gene
Variants for PPHLN1 Gene
| SNP ID | Clin | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs140585847 | A breast cancer sample | 42,384,945(+) | G/A | coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant | |
| rs1000009284 | -- | 42,394,977(+) | C/T | intron_variant | |
| rs1000011390 | -- | 42,353,073(+) | A/G | intron_variant | |
| rs1000019213 | -- | 42,355,549(+) | C/T | intron_variant | |
| rs1000094174 | -- | 42,439,546(+) | G/A | genic_downstream_transcript_variant, intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3431855 | CNV | insertion | 20981092 |
| nsv1048971 | CNV | gain | 25217958 |
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| intrahepatic cholangiocarcinoma |
|
|
Search PPHLN1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PPHLN1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for PPHLN1 Gene
Publications for PPHLN1 Gene
- 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 58
- 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 44 58
- A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4 58
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
- 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 22 58
Products for PPHLN1 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for PPHLN1
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for PPHLN1
- Origene Custom Protein Services for PPHLN1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PPHLN1
- Browse OriGene Inhibitory RNA Products For PPHLN1
- OriGene qPCR primer pairs and template standards for PPHLN1
- OriGene qPCR primer pairs for PPHLN1
- OriGene CRISPR knockouts for PPHLN1
- OriGene ORF clones in human for PPHLN1
- RC227664L1V
- RC227664L2V
- RC227683L1V
- RC227683L2V
- RC227699L1V
- RC227699L2V
- RC215736L1V
- RC215736L2V
- RC208045L1V
- RC208045L2V
- RC219288L1V
- RC219288L2V
- RC222352L1V
- RC222352L2V
- RC216262L1V
- RC216262L2V
- RC227664
- RC227664L1
- RC227664L2
- RG227664
- RC227683
- RC227683L1
- RC227683L2
- RG227683
- RC227699
- RC227699L1
- RC227699L2
- RG227699
- RC215736
- RC215736L1
- RC215736L2
- RG215736
- RC208045
- RC208045L1
- RC208045L2
- RG208045
- RC219288
- RC219288L1
- RC219288L2
- RG219288
- RC222352
- RC222352L1
- RC222352L2
- RG222352
- RC216262
- RC216262L1
- RC216262L2
- RG216262
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For PPHLN1
- GenScript: Next-day shipping of latest version cDNA ORF clones for PPHLN1 in any vector
- XM_011538467.1
- XM_011538464.1
- NM_201439.1
- XM_011538461.1
- XM_005268965.2
- NM_016488.6
- XM_011538458.1
- XM_011538473.1
- NM_001143789.1
- XM_011538471.1
- XM_011538468.1
- XM_011538465.1
- XM_011538462.1
- NM_201438.1
- NM_201515.1
- XM_011538459.1
- XM_011538474.1
- NM_001143788.1
- XM_011538472.1
- XM_011538469.1
- XM_011538466.1
- XM_011538463.1
- NM_201440.1
- XM_011538460.1
- XM_011538475.1
- NM_001143787.1
- XM_011538457.1
- XM_005268962.2
- XM_011538470.1
- GenScript Custom Purified and Recombinant Proteins Services for PPHLN1
- GenScript Custom Assay Services for PPHLN1
- GenScript Custom overexpressing Cell Line Services for PPHLN1
- GenScript: Design CRISPR guide RNA sequences for PPHLN1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for PPHLN1
- Sino Biological Human cDNA Clone for PPHLN1
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for PPHLN1
- Novus Biologicals proteins and lysates for PPHLN1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for PPHLN1
- Abcam proteins for PPHLN1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Browse Antibodies at Cloud-Clone Corp.
- Browse Proteins at Cloud-Clone Corp.
- Browse Assay Kits at Cloud-Clone Corp.
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for PPHLN1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Cyagen custom Knockout/knockin (KOKI) mouse models for PPHLN1
- VectorBuilder custom plasmid, inducible vectors for PPHLN1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PPHLN1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 51 available PPHLN1 Antibodies ranked by validation data
- Compare Top PPHLN1 Antibodies
- antibodies-online: Search results for available PPHLN1 related products ranked by validation data
- antibodies-online: Search results for 7 available PPHLN1 Proteins ranked by validation data
- Compare Top PPHLN1 Proteins
- Quality Products:
- Search GeneTex for Antibodies for PPHLN1
- Search GeneTex for Proteins for PPHLN1
- Search ViGene Biosciences for PPHLN1
- Custom Antibody ServicesProSci Antibodies for PPHLN1
- Search for PPHLN1 Proteins at ProSci
- Horizon Cell Lines for PPHLN1
- genomics-online: cdna clones - Search results for 177 available PPHLN1 gene related products
- Overview of 177 available PPHLN1 gene related products
- Recommended
- orf clones - Search results for 177 available PPHLN1 gene related products
- Overview of 177 available PPHLN1 gene related products
- Recommended
- genomics-online: gRNA clones - Search results for 177 available PPHLN1 gene related products
- Overview of 177 available PPHLN1 gene related products
- Recommended
- genomics-online: primer clones - Search results for 177 available PPHLN1 gene related products
- Overview of 177 available PPHLN1 gene related products
- Recommended
- genomics-online: shRNA clones - Search results for 177 available PPHLN1 gene related products
- Overview of 177 available PPHLN1 gene related products
- Recommended
Sources for PPHLN1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew