UniProtKB - Q8K2H1 (PPHLN_MOUSE)
Protein
Periphilin-1
Gene
Pphln1
Organism
Mus musculus (Mouse)
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. Acts as a transcriptional corepressor and regulates the cell cycle, probably via the HUSH complex. 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. May be involved in epithelial differentiation by contributing to epidermal integrity and barrier formation.By similarity
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 |
Names & Taxonomyi
Protein namesi | Recommended name: Periphilin-1By similarity |
Gene namesi | Name:Pphln1Imported |
Organismi | Mus musculus (Mouse) |
Taxonomic identifieri | 10090 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Myomorpha › Muroidea › Muridae › Murinae › Mus › Mus |
Proteomesi |
|
Organism-specific databases
MGIi | MGI:1917029, Pphln1 |
Subcellular locationi
Nucleus
- Nucleus By similarity
Other locations
- Cytoplasm By similarity
- Chromosome By similarity
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. Localizes to chromatin.By similarity
Cytosol
- cytosol Source: MGI
Golgi apparatus
- Golgi apparatus Source: MGI
Nucleus
- nucleoplasm Source: MGI
Other locations
- chromosome Source: UniProtKB-SubCell
Keywords - Cellular componenti
Chromosome, Cytoplasm, NucleusPathology & Biotechi
Disruption phenotypei
Embryonic lethality. Embryos die during early embryogenesis.1 Publication
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000058538 | 1 – 381 | Periphilin-1Add BLAST | 381 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Cross-linki | 123 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity | ||
Modified residuei | 124 | PhosphoserineBy similarity | 1 | |
Modified residuei | 128 | PhosphoserineBy similarity | 1 | |
Modified residuei | 147 | PhosphoserineBy similarity | 1 | |
Modified residuei | 154 | PhosphoserineBy similarity | 1 | |
Modified residuei | 181 | PhosphoserineBy similarity | 1 | |
Cross-linki | 194 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity | ||
Modified residuei | 211 | PhosphoserineBy similarity | 1 | |
Cross-linki | 213 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity | ||
Modified residuei | 215 | PhosphoserineBy similarity | 1 | |
Modified residuei | 219 | PhosphoserineCombined sources | 1 | |
Cross-linki | 241 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity | ||
Modified residuei | 249 | N6-acetyllysine; alternateBy similarity | 1 | |
Cross-linki | 249 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateBy similarity | ||
Modified residuei | 339 | PhosphoserineBy similarity | 1 | |
Cross-linki | 342 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity |
Keywords - PTMi
Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
jPOSTi | Q8K2H1 |
PaxDbi | Q8K2H1 |
PeptideAtlasi | Q8K2H1 |
PRIDEi | Q8K2H1 |
PTM databases
iPTMneti | Q8K2H1 |
PhosphoSitePlusi | Q8K2H1 |
Expressioni
Tissue specificityi
Ubiquitously expressed. Strong expression in the developing somites and limbs, the embryonic nervous system and the adult brain.1 Publication
Interactioni
Subunit structurei
Homodimer (By similarity).
Component of the HUSH complex; at least composed of TASOR, PPHLN1 and MPHOSPH8 (By similarity).
Interacts with SIN3A and HDAC1 (By similarity). May interact with PPL (By similarity).
By similarityProtein-protein interaction databases
BioGRIDi | 230202, 6 interactors |
IntActi | Q8K2H1, 1 interactor |
STRINGi | 10090.ENSMUSP00000042762 |
Miscellaneous databases
RNActi | Q8K2H1, protein |
Family & Domainsi
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 117 – 123 | Nuclear localization signalBy similarity | 7 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 154 – 229 | Ser-richAdd BLAST | 76 |
Phylogenomic databases
eggNOGi | ENOG502QW3I, Eukaryota |
InParanoidi | Q8K2H1 |
OrthoDBi | 924482at2759 |
PhylomeDBi | Q8K2H1 |
Family and domain databases
InterProi | View protein in InterPro IPR028851, Pphln1 |
PANTHERi | PTHR15836, PTHR15836, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q8K2H1-1) [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
MWSEGRYDYD RLPRERVPPR SHPSDGYHRV VNVVPKRPPL LDKRPPLLDK
60 70 80 90 100
RPPLLARPDE GGYSRYYSHV DCRVCDEGRS FSHDRRSGPS HSGDESGYRW
110 120 130 140 150
LRDDHSTSRQ PDYRDMRDGF RRKSFYSSHY SRDRSPHKRD APFFRESPVG
160 170 180 190 200
RKDSPHSRSG SSVSSRSYSP ERSRTHSFHQ SQHRKSSRVG ASYKRQNEAI
210 220 230 240 250
RGRGKERSIQ SVKTSRDASP SSSSAVASSK ALDKPSRLTE KELAEAESKW
260 270 280 290 300
ANETLEKSDE SNLAEMNEFE AGSTAPLFID QTEEPESNTV DGTELYEDSQ
310 320 330 340 350
LSNRSKAIAS KTKEIEQVYR QDCETFGMVV KMLIEKDPSL EKSVQFALRQ
360 370 380
NLHEIGERCV EELKRFITEY DNSARDFGDP F
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketQ3UBL8 | Q3UBL8_MOUSE | Periphilin-1 | Pphln1 | 312 | Annotation score: | ||
G3UWD4 | G3UWD4_MOUSE | Periphilin-1 | Pphln1 | 293 | Annotation score: | ||
A0A2R8W6Q1 | A0A2R8W6Q1_MOUSE | Periphilin-1 | Pphln1 | 125 | Annotation score: | ||
G3X959 | G3X959_MOUSE | Periphilin-1 | Pphln1 | 381 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 375 | R → Q in BAC38270 (PubMed:16141072).Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_009908 | 25 – 93 | Missing in isoform 2. 1 PublicationAdd BLAST | 69 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK081606 mRNA Translation: BAC38270.1 BC031486 mRNA Translation: AAH31486.3 |
CCDSi | CCDS27767.1 [Q8K2H1-1] CCDS27768.1 [Q8K2H1-2] |
RefSeqi | NP_780572.1, NM_175363.4 XP_006520920.1, XM_006520857.1 |
Genome annotation databases
GeneIDi | 223828 |
KEGGi | mmu:223828 |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK081606 mRNA Translation: BAC38270.1 BC031486 mRNA Translation: AAH31486.3 |
CCDSi | CCDS27767.1 [Q8K2H1-1] CCDS27768.1 [Q8K2H1-2] |
RefSeqi | NP_780572.1, NM_175363.4 XP_006520920.1, XM_006520857.1 |
3D structure databases
SMRi | Q8K2H1 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 230202, 6 interactors |
IntActi | Q8K2H1, 1 interactor |
STRINGi | 10090.ENSMUSP00000042762 |
PTM databases
iPTMneti | Q8K2H1 |
PhosphoSitePlusi | Q8K2H1 |
Proteomic databases
jPOSTi | Q8K2H1 |
PaxDbi | Q8K2H1 |
PeptideAtlasi | Q8K2H1 |
PRIDEi | Q8K2H1 |
Genome annotation databases
GeneIDi | 223828 |
KEGGi | mmu:223828 |
Organism-specific databases
CTDi | 51535 |
MGIi | MGI:1917029, Pphln1 |
Phylogenomic databases
eggNOGi | ENOG502QW3I, Eukaryota |
InParanoidi | Q8K2H1 |
OrthoDBi | 924482at2759 |
PhylomeDBi | Q8K2H1 |
Miscellaneous databases
BioGRID-ORCSi | 223828, 0 hits in 17 CRISPR screens |
ChiTaRSi | Pphln1, mouse |
PROi | PR:Q8K2H1 |
RNActi | Q8K2H1, protein |
SOURCEi | Search... |
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_MOUSE | |
Accessioni | Q8K2H1Primary (citable) accession number: Q8K2H1 Secondary accession number(s): Q8BUZ6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 13, 2004 |
Last sequence update: | October 1, 2002 | |
Last modified: | December 2, 2020 | |
This is version 116 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- MGD cross-references
Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot