UniProtKB - Q8NEY8 (PPHLN_HUMAN)
Protein
Periphilin-1
Gene
PPHLN1
Organism
Homo sapiens (Human)
Status
Functioni
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).1 Publication4 Publications
GO - Molecular functioni
- RNA binding Source: UniProtKB
GO - Biological processi
- keratinization Source: UniProtKB-KW
- negative regulation of gene expression, epigenetic Source: UniProtKB
- negative regulation of transcription, DNA-templated Source: InterPro
- positive regulation of DNA methylation-dependent heterochromatin assembly Source: UniProtKB
- protein localization to heterochromatin Source: UniProtKB
Keywordsi
Molecular function | Repressor |
Biological process | Keratinization, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q8NEY8 |
Names & Taxonomyi
Protein namesi | Recommended name: Periphilin-11 PublicationAlternative name(s): CDC7 expression repressor1 Publication Short name: CR1 Publication Gastric cancer antigen Ga501 Publication |
Gene namesi | Name:PPHLN1Imported ORF Names:HSPC206, HSPC232 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:19369, PPHLN1 |
MIMi | 608150, gene |
neXtProti | NX_Q8NEY8 |
VEuPathDBi | HostDB:ENSG00000134283.17 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm 1 Publication
Nucleus
- Nucleus 3 Publications
Other locations
- Chromosome 1 Publication
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).2 Publications
Cytosol
- cytosol Source: HPA
Golgi apparatus
- Golgi apparatus Source: HPA
Nucleus
- nucleoplasm Source: HPA
Other locations
- chromosome Source: UniProtKB-SubCell
Keywords - Cellular componenti
Chromosome, Cytoplasm, NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 51535 |
OpenTargetsi | ENSG00000134283 |
PharmGKBi | PA134881011 |
Miscellaneous databases
Pharosi | Q8NEY8, Tbio |
Genetic variation databases
BioMutai | PPHLN1 |
DMDMi | 46396942 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000058537 | 1 – 458 | Periphilin-1Add BLAST | 458 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Cross-linki | 109 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 110 | PhosphoserineCombined sources | 1 | |
Modified residuei | 114 | PhosphoserineCombined sources | 1 | |
Modified residuei | 133 | PhosphoserineCombined sources | 1 | |
Modified residuei | 140 | PhosphoserineCombined sources | 1 | |
Cross-linki | 160 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 161 | PhosphoserineCombined sources | 1 | |
Modified residuei | 167 | PhosphoserineCombined sources | 1 | |
Cross-linki | 180 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 197 | PhosphoserineCombined sources | 1 | |
Cross-linki | 199 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 201 | PhosphoserineCombined sources | 1 | |
Modified residuei | 205 | PhosphoserineCombined sources | 1 | |
Cross-linki | 227 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 235 | N6-acetyllysine; alternateCombined sources | 1 | |
Cross-linki | 235 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources | ||
Modified residuei | 240 | N6-acetyllysine; alternateCombined sources | 1 | |
Cross-linki | 240 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources | ||
Modified residuei | 325 | PhosphoserineCombined sources | 1 | |
Cross-linki | 328 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 453 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources |
Post-translational modificationi
Substrate of transglutaminase (in vitro).1 Publication
Keywords - PTMi
Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q8NEY8 |
jPOSTi | Q8NEY8 |
MassIVEi | Q8NEY8 |
MaxQBi | Q8NEY8 |
PaxDbi | Q8NEY8 |
PeptideAtlasi | Q8NEY8 |
PRIDEi | Q8NEY8 |
ProteomicsDBi | 19102 73240 [Q8NEY8-1] 73241 [Q8NEY8-2] 73242 [Q8NEY8-3] 73243 [Q8NEY8-5] 73244 [Q8NEY8-6] 73245 [Q8NEY8-7] 73246 [Q8NEY8-8] |
PTM databases
iPTMneti | Q8NEY8 |
PhosphoSitePlusi | Q8NEY8 |
Expressioni
Tissue specificityi
Ubiquitous.1 Publication
Gene expression databases
Bgeei | ENSG00000134283, Expressed in testis and 221 other tissues |
ExpressionAtlasi | Q8NEY8, baseline and differential |
Genevisiblei | Q8NEY8, HS |
Organism-specific databases
HPAi | ENSG00000134283, Low tissue specificity |
Interactioni
Subunit structurei
Binary interactionsi
Hide detailsQ8NEY8
With | #Exp. | IntAct |
---|---|---|
CCDC57 [Q2TAC2] | 3 | EBI-474076,EBI-2808286 |
MTUS2 [Q5JR59] | 3 | EBI-474076,EBI-742948 |
TSGA10 [Q9BZW7] | 3 | EBI-474076,EBI-744794 |
Isoform 5 [Q8NEY8-5]
With | #Exp. | IntAct |
---|---|---|
FXR1 - isoform 2 [P51114-2] | 3 | EBI-22734102,EBI-11022345 |
Protein-protein interaction databases
BioGRIDi | 119596, 95 interactors |
CORUMi | Q8NEY8 |
DIPi | DIP-49051N |
IntActi | Q8NEY8, 58 interactors |
MINTi | Q8NEY8 |
STRINGi | 9606.ENSP00000378935 |
Miscellaneous databases
RNActi | Q8NEY8, protein |
Family & Domainsi
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 103 – 109 | Nuclear localization signalSequence analysis | 7 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 140 – 215 | Ser-richAdd BLAST | 76 |
Phylogenomic databases
eggNOGi | ENOG502QW3I, Eukaryota |
GeneTreei | ENSGT00390000016228 |
HOGENOMi | CLU_051689_1_0_1 |
InParanoidi | Q8NEY8 |
OrthoDBi | 924482at2759 |
PhylomeDBi | Q8NEY8 |
TreeFami | TF335813 |
Family and domain databases
InterProi | View protein in InterPro IPR028851, Pphln1 |
PANTHERi | PTHR15836, PTHR15836, 1 hit |
s (8+)i Sequence
Sequence statusi: Complete.
This entry describes 8 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 8 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q8NEY8-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MWSEGRYEYE RIPRERAPPR SHPSDGYNRL VNIVPKKPPL LDRPGEGSYN
60 70 80 90 100
RYYSHVDYRD YDEGRSFSHD RRSGPPHRGD ESGYRWTRDD HSASRQPEYR
110 120 130 140 150
DMRDGFRRKS FYSSHYARER SPYKRDNTFF RESPVGRKDS PHSRSGSSVS
160 170 180 190 200
SRSYSPERSK SYSFHQSQHR KSVRPGASYK RQNEGNPERD KERPVQSLKT
210 220 230 240 250
SRDTSPSSGS AVSSSKVLDK PSRLTEKELA EAASKWAAEK LEKSDESNLP
260 270 280 290 300
EISEYEAGST APLFTDQPEE PESNTTHGIE LFEDSQLTTR SKAIASKTKE
310 320 330 340 350
IEQVYRQDCE TFGMVVKMLI EKDPSLEKSI QFALRQNLHE IESAGQTWQQ
360 370 380 390 400
VPPVRNTEMD HDGTPENEGE ETAQSAPQPP QAPQPLQPRK KRVRRTTQLR
410 420 430 440 450
RTTGAPDITW GMLKKTTQEA ERILLRTQTP FTPENLFLAM LSVVHCNSRK
DVKPENKQ
Computationally mapped potential isoform sequencesi
There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF8W0Q9 | F8W0Q9_HUMAN | Periphilin-1 | PPHLN1 | 385 | Annotation score: | ||
F8WF16 | F8WF16_HUMAN | Periphilin-1 | PPHLN1 | 303 | Annotation score: | ||
B7Z8L1 | B7Z8L1_HUMAN | Periphilin-1 | PPHLN1 | 340 | Annotation score: | ||
F8VWU8 | F8VWU8_HUMAN | Periphilin-1 | PPHLN1 | 168 | Annotation score: | ||
F8W6A0 | F8W6A0_HUMAN | Periphilin-1 | PPHLN1 | 363 | Annotation score: | ||
F8VPY7 | F8VPY7_HUMAN | Periphilin-1 | PPHLN1 | 161 | Annotation score: | ||
F8VRK2 | F8VRK2_HUMAN | Periphilin-1 | PPHLN1 | 107 | Annotation score: | ||
F8VP48 | F8VP48_HUMAN | Periphilin-1 | PPHLN1 | 52 | Annotation score: | ||
F8VXV7 | F8VXV7_HUMAN | Periphilin-1 | PPHLN1 | 37 | Annotation score: |
Sequence cautioni
The sequence AAH25306 differs from that shown. Reason: Erroneous initiation.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Sequence conflicti | 97 | P → L in AAF36126 (PubMed:11042152).Curated | 1 | ||
Sequence conflicti | 178 | S → F in AAO16497 (PubMed:12853457).Curated | 1 | ||
Sequence conflicti | 253 | S → P in AAF36126 (PubMed:11042152).Curated | 1 | ||
Sequence conflicti | 283 | E → K in AAF36126 (PubMed:11042152).Curated | 1 | ||
Isoform 3 (identifier: Q8NEY8-3) | |||||
Sequence conflicti | 341 | Q → P in AAH25306 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_036233 | 173 | V → M in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs140585847Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_009898 | 1 – 184 | Missing in isoform 7. 1 PublicationAdd BLAST | 184 | |
Alternative sequenceiVSP_009899 | 1 | M → MAYRRDEM in isoform 2, isoform 5 and isoform 6. 3 Publications | 1 | |
Alternative sequenceiVSP_009900 | 25 – 79 | Missing in isoform 3, isoform 5 and isoform 6. 2 PublicationsAdd BLAST | 55 | |
Alternative sequenceiVSP_054078 | 170 – 190 | RKSVR…NPERD → RN in isoform 9. 1 PublicationAdd BLAST | 21 | |
Alternative sequenceiVSP_009902 | 185 – 189 | GNPER → MFSYI in isoform 7. 1 Publication | 5 | |
Alternative sequenceiVSP_009903 | 305 – 306 | YR → RV in isoform 5 and isoform 7. 2 Publications | 2 | |
Alternative sequenceiVSP_009904 | 307 – 458 | Missing in isoform 5 and isoform 7. 2 PublicationsAdd BLAST | 152 | |
Alternative sequenceiVSP_009905 | 342 – 367 | ESAGQ…GTPEN → GERCVEELKHFIAEYDTSTQ DFGEPF in isoform 2, isoform 6, isoform 8 and isoform 9. 4 PublicationsAdd BLAST | 26 | |
Alternative sequenceiVSP_009906 | 368 – 458 | Missing in isoform 2, isoform 6, isoform 8 and isoform 9. 4 PublicationsAdd BLAST | 91 | |
Alternative sequenceiVSP_009907 | 376 | A → ALFGFQHDASNHTIVGLGPN QVPEMKETTLQA in isoform 3. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY039238 mRNA Translation: AAK68657.1 AY157850 mRNA Translation: AAO16497.1 AF151040 mRNA Translation: AAF36126.1 Frameshift. AF151066 mRNA Translation: AAF36152.1 Frameshift. AK055690 mRNA Translation: BAB70985.1 AK000186 mRNA Translation: BAA90996.1 CR621833 mRNA No translation available. AC020629 Genomic DNA No translation available. AC079601 Genomic DNA No translation available. AC079684 Genomic DNA No translation available. BC025306 mRNA Translation: AAH25306.1 Different initiation. BC039832 mRNA Translation: AAH39832.1 |
CCDSi | CCDS31777.1 [Q8NEY8-1] CCDS41773.1 [Q8NEY8-2] CCDS44860.1 [Q8NEY8-3] CCDS44861.1 [Q8NEY8-9] CCDS55817.1 [Q8NEY8-6] CCDS8741.1 [Q8NEY8-8] |
RefSeqi | NP_001137259.1, NM_001143787.1 [Q8NEY8-3] NP_001137260.1, NM_001143788.1 [Q8NEY8-9] NP_057572.5, NM_016488.6 [Q8NEY8-1] NP_958846.1, NM_201438.1 [Q8NEY8-5] NP_958847.1, NM_201439.1 [Q8NEY8-8] NP_958848.1, NM_201440.1 [Q8NEY8-6] NP_958923.1, NM_201515.1 [Q8NEY8-2] |
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY039238 mRNA Translation: AAK68657.1 AY157850 mRNA Translation: AAO16497.1 AF151040 mRNA Translation: AAF36126.1 Frameshift. AF151066 mRNA Translation: AAF36152.1 Frameshift. AK055690 mRNA Translation: BAB70985.1 AK000186 mRNA Translation: BAA90996.1 CR621833 mRNA No translation available. AC020629 Genomic DNA No translation available. AC079601 Genomic DNA No translation available. AC079684 Genomic DNA No translation available. BC025306 mRNA Translation: AAH25306.1 Different initiation. BC039832 mRNA Translation: AAH39832.1 |
CCDSi | CCDS31777.1 [Q8NEY8-1] CCDS41773.1 [Q8NEY8-2] CCDS44860.1 [Q8NEY8-3] CCDS44861.1 [Q8NEY8-9] CCDS55817.1 [Q8NEY8-6] CCDS8741.1 [Q8NEY8-8] |
RefSeqi | NP_001137259.1, NM_001143787.1 [Q8NEY8-3] NP_001137260.1, NM_001143788.1 [Q8NEY8-9] NP_057572.5, NM_016488.6 [Q8NEY8-1] NP_958846.1, NM_201438.1 [Q8NEY8-5] NP_958847.1, NM_201439.1 [Q8NEY8-8] NP_958848.1, NM_201440.1 [Q8NEY8-6] NP_958923.1, NM_201515.1 [Q8NEY8-2] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6SWG | X-ray | 2.51 | A/B | 285-341 | [»] | |
SMRi | Q8NEY8 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 119596, 95 interactors |
CORUMi | Q8NEY8 |
DIPi | DIP-49051N |
IntActi | Q8NEY8, 58 interactors |
MINTi | Q8NEY8 |
STRINGi | 9606.ENSP00000378935 |
PTM databases
iPTMneti | Q8NEY8 |
PhosphoSitePlusi | Q8NEY8 |
Genetic variation databases
BioMutai | PPHLN1 |
DMDMi | 46396942 |
Proteomic databases
EPDi | Q8NEY8 |
jPOSTi | Q8NEY8 |
MassIVEi | Q8NEY8 |
MaxQBi | Q8NEY8 |
PaxDbi | Q8NEY8 |
PeptideAtlasi | Q8NEY8 |
PRIDEi | Q8NEY8 |
ProteomicsDBi | 19102 73240 [Q8NEY8-1] 73241 [Q8NEY8-2] 73242 [Q8NEY8-3] 73243 [Q8NEY8-5] 73244 [Q8NEY8-6] 73245 [Q8NEY8-7] 73246 [Q8NEY8-8] |
Protocols and materials databases
Antibodypediai | 25050, 153 antibodies |
DNASUi | 51535 |
Genome annotation databases
Organism-specific databases
CTDi | 51535 |
DisGeNETi | 51535 |
GeneCardsi | PPHLN1 |
HGNCi | HGNC:19369, PPHLN1 |
HPAi | ENSG00000134283, Low tissue specificity |
MIMi | 608150, gene |
neXtProti | NX_Q8NEY8 |
OpenTargetsi | ENSG00000134283 |
PharmGKBi | PA134881011 |
VEuPathDBi | HostDB:ENSG00000134283.17 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QW3I, Eukaryota |
GeneTreei | ENSGT00390000016228 |
HOGENOMi | CLU_051689_1_0_1 |
InParanoidi | Q8NEY8 |
OrthoDBi | 924482at2759 |
PhylomeDBi | Q8NEY8 |
TreeFami | TF335813 |
Enzyme and pathway databases
PathwayCommonsi | Q8NEY8 |
Miscellaneous databases
BioGRID-ORCSi | 51535, 45 hits in 997 CRISPR screens |
ChiTaRSi | PPHLN1, human |
GeneWikii | PPHLN1 |
GenomeRNAii | 51535 |
Pharosi | Q8NEY8, Tbio |
PROi | PR:Q8NEY8 |
RNActi | Q8NEY8, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000134283, Expressed in testis and 221 other tissues |
ExpressionAtlasi | Q8NEY8, baseline and differential |
Genevisiblei | Q8NEY8, HS |
Family and domain databases
InterProi | View protein in InterPro IPR028851, Pphln1 |
PANTHERi | PTHR15836, PTHR15836, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PPHLN_HUMAN | |
Accessioni | Q8NEY8Primary (citable) accession number: Q8NEY8 Secondary accession number(s): E9PAX8 Q9P0R9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 13, 2004 |
Last sequence update: | April 13, 2004 | |
Last modified: | April 7, 2021 | |
This is version 154 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references