UniProtKB - O60437 (PEPL_HUMAN)
Protein
Periplakin
Gene
PPL
Organism
Homo sapiens (Human)
Status
Functioni
Component of the cornified envelope of keratinocytes. May link the cornified envelope to desmosomes and intermediate filaments. May act as a localization signal in PKB/AKT-mediated signaling.1 Publication
GO - Molecular functioni
- cadherin binding Source: BHF-UCL
- structural constituent of cytoskeleton Source: ProtInc
- structural molecule activity Source: GO_Central
GO - Biological processi
- adaptive immune response Source: Reactome
- cornification Source: Reactome
- intermediate filament cytoskeleton organization Source: GO_Central
- response to mechanical stimulus Source: BHF-UCL
- wound healing Source: GO_Central
Keywordsi
Biological process | Keratinization |
Enzyme and pathway databases
PathwayCommonsi | O60437 |
Reactomei | R-HSA-6809371, Formation of the cornified envelope R-HSA-8851680, Butyrophilin (BTN) family interactions |
Names & Taxonomyi
Protein namesi | Recommended name: PeriplakinAlternative name(s): 190 kDa paraneoplastic pemphigus antigen 195 kDa cornified envelope precursor protein |
Gene namesi | Name:PPL Synonyms:KIAA0568 |
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:9273, PPL |
MIMi | 602871, gene |
neXtProti | NX_O60437 |
VEuPathDBi | HostDB:ENSG00000118898.15 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm By similarity
Plasma membrane
- Cell membrane By similarity
Cytoskeleton
- cytoskeleton 1 Publication
Other locations
- desmosome 1 Publication
Cytoskeleton
- cytoskeleton Source: ProtInc
Cytosol
- cytosol Source: Reactome
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Plasma Membrane
- cornified envelope Source: Reactome
- plasma membrane Source: UniProtKB
Other locations
Keywords - Cellular componenti
Cell junction, Cell membrane, Cytoplasm, Cytoskeleton, MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 5493 |
OpenTargetsi | ENSG00000118898 |
PharmGKBi | PA33602 |
Miscellaneous databases
Pharosi | O60437, Tbio |
Genetic variation databases
BioMutai | PPL |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000078149 | 1 – 1756 | PeriplakinAdd BLAST | 1756 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 14 | PhosphoserineCombined sources | 1 | |
Modified residuei | 465 | PhosphoserineCombined sources | 1 | |
Modified residuei | 887 | PhosphoserineCombined sources | 1 | |
Modified residuei | 949 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1584 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1657 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | O60437 |
jPOSTi | O60437 |
MassIVEi | O60437 |
MaxQBi | O60437 |
PaxDbi | O60437 |
PeptideAtlasi | O60437 |
PRIDEi | O60437 |
ProteomicsDBi | 49402 |
PTM databases
iPTMneti | O60437 |
PhosphoSitePlusi | O60437 |
SwissPalmi | O60437 |
Expressioni
Tissue specificityi
Expressed in stratified squamous epithelia and in some other epithelia.2 Publications
Developmental stagei
Expressed in the epidermis, nuclei of dermal fibroblasts, cell periphery of flattened keratinocytes, and dermal and epithelial cells lining the excretory ducts of the sweat glands in neonatal foreskin.1 Publication
Inductioni
During differentiation of epidermal keratinocytes.1 Publication
Gene expression databases
Bgeei | ENSG00000118898, Expressed in mouth mucosa and 216 other tissues |
ExpressionAtlasi | O60437, baseline and differential |
Genevisiblei | O60437, HS |
Organism-specific databases
HPAi | ENSG00000118898, Tissue enhanced (esophagus, lymphoid tissue, tongue) |
Interactioni
Subunit structurei
Homodimer or a heterodimer with EVPL (PubMed:9412476).
Found in a complex composed of PPL (via C-terminal linker domain), BFSP1 and BFSP2 in the retinal lens (By similarity). Within the complex interacts (via C-terminal linker domain) with BFSP2 (By similarity).
Interacts with VIM (By similarity). Binds to the PH domain of AKT1 (PubMed:12244133).
Interacts with FCGR1A (PubMed:15229321). May interact with PPHLN1 (PubMed:12853457).
By similarity4 PublicationsBinary interactionsi
Hide detailsO60437
GO - Molecular functioni
- cadherin binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 111488, 103 interactors |
IntActi | O60437, 61 interactors |
MINTi | O60437 |
STRINGi | 9606.ENSP00000340510 |
Miscellaneous databases
RNActi | O60437, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | O60437 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 216 – 317 | Spectrin 1Add BLAST | 102 | |
Repeati | 323 – 485 | Spectrin 2Add BLAST | 163 | |
Domaini | 399 – 455 | SH3PROSITE-ProRule annotationAdd BLAST | 57 | |
Repeati | 505 – 612 | Spectrin 3Add BLAST | 108 | |
Repeati | 733 – 861 | Spectrin 4Add BLAST | 129 | |
Repeati | 1651 – 1685 | Plectin 1Add BLAST | 35 | |
Repeati | 1700 – 1735 | Plectin 2Add BLAST | 36 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1557 – 1756 | Interacts with BFSP2 and VIMBy similarityAdd BLAST | 200 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 16 – 125 | Sequence analysisAdd BLAST | 110 | |
Coiled coili | 188 – 389 | Sequence analysisAdd BLAST | 202 | |
Coiled coili | 585 – 820 | Sequence analysisAdd BLAST | 236 | |
Coiled coili | 886 – 1645 | Sequence analysisAdd BLAST | 760 |
Sequence similaritiesi
Belongs to the plakin or cytolinker family.Curated
Keywords - Domaini
Coiled coil, Repeat, SH3 domainPhylogenomic databases
eggNOGi | KOG0516, Eukaryota |
GeneTreei | ENSGT00940000153578 |
InParanoidi | O60437 |
OMAi | EVHKVQQ |
OrthoDBi | 35436at2759 |
PhylomeDBi | O60437 |
TreeFami | TF342779 |
Family and domain databases
InterProi | View protein in InterPro IPR041615, Desmoplakin_SH3 IPR043197, Plakin IPR035915, Plakin_repeat_sf IPR001101, Plectin_repeat IPR001452, SH3_domain IPR018159, Spectrin/alpha-actinin |
PANTHERi | PTHR23169, PTHR23169, 1 hit |
Pfami | View protein in Pfam PF17902, SH3_10, 1 hit |
SMARTi | View protein in SMART SM00250, PLEC, 2 hits SM00150, SPEC, 5 hits |
SUPFAMi | SSF75399, SSF75399, 1 hit |
PROSITEi | View protein in PROSITE PS50002, SH3, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All
O60437-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MNSLFRKRNK GKYSPTVQTR SISNKELSEL IEQLQKNADQ VEKNIVDTEA
60 70 80 90 100
KMQSDLARLQ EGRQPEHRDV TLQKVLDSEK LLYVLEADAA IAKHMKHPQG
110 120 130 140 150
DMIAEDIRQL KERVTNLRGK HKQIYRLAVK EVDPQVNWAA LVEEKLDKLN
160 170 180 190 200
NQSFGTDLPL VDHQVEEHNI FHNEVKAIGP HLAKDGDKEQ NSELRAKYQK
210 220 230 240 250
LLAASQARQQ HLSSLQDYMQ RCTNELYWLD QQAKGRMQYD WSDRNLDYPS
260 270 280 290 300
RRRQYENFIN RNLEAKEERI NKLHSEGDQL LAAEHPGRNS IEAHMEAVHA
310 320 330 340 350
DWKEYLNLLI CEESHLKYME DYHQFHEDVK DAQELLRKVD SDLNQKYGPD
360 370 380 390 400
FKDRYQIELL LRELDDQEKV LDKYEDVVQG LQKRGQQVVP LKYRRETPLK
410 420 430 440 450
PIPVEALCDF EGEQGLISRG YSYTLQKNNG ESWELMDSAG NKLIAPAVCF
460 470 480 490 500
VIPPTDPEAL ALADSLGSQY RSVRQKAAGS KRTLQQRYEV LKTENPGDAS
510 520 530 540 550
DLQGRQLLAG LDKVASDLDR QEKAITGILR PPLEQGRAVQ DSAERAKDLK
560 570 580 590 600
NITNELLRIE PEKTRSTAEG EAFIQALPGS GTTPLLRTRV EDTNRKYEHL
610 620 630 640 650
LQLLDLAQEK VDVANRLEKS LQQSWELLAT HENHLNQDDT VPESSRVLDS
660 670 680 690 700
KGQELAAMAC ELQAQKSLLG EVEQNLQAAK QCSSTLASRF QEHCPDLERQ
710 720 730 740 750
EAEVHKLGQR FNNLRQQVER RAQSLQSAKA AYEHFHRGHD HVLQFLVSIP
760 770 780 790 800
SYEPQETDSL SQMETKLKNQ KNLLDEIASR EQEVQKICAN SQQYQQAVKD
810 820 830 840 850
YELEAEKLRS LLDLENGRRS HVSKRARLQS PATKVKEEEA ALAAKFTEVY
860 870 880 890 900
AINRQRLQNL EFALNLLRQQ PEVEVTHETL QRNRPDSGVE EAWKIRKELD
910 920 930 940 950
EETERRRQLE NEVKSTQEEI WTLRNQGPQE SVVRKEVLKK VPDPVLEESF
960 970 980 990 1000
QQLQRTLAEE QHKNQLLQEE LEALQLQLRA LEQETRDGGQ EYVVKEVLRI
1010 1020 1030 1040 1050
EPDRAQADEV LQLREELEAL RRQKGAREAE VLLLQQRVAA LAEEKSRAQE
1060 1070 1080 1090 1100
KVTEKEVVKL QNDPQLEAEY QQLQEDHQRQ DQLREKQEEE LSFLQDKLKR
1110 1120 1130 1140 1150
LEKERAMAEG KITVKEVLKV EKDAATEREV SDLTRQYEDE AAKARASQRE
1160 1170 1180 1190 1200
KTELLRKIWA LEEENAKVVV QEKVREIVRP DPKAESEVAN LRLELVEQER
1210 1220 1230 1240 1250
KYRGAEEQLR SYQSELEALR RRGPQVEVKE VTKEVIKYKT DPEMEKELQR
1260 1270 1280 1290 1300
LREEIVDKTR LIERCDLEIY QLKKEIQALK DTKPQVQTKE VVQEILQFQE
1310 1320 1330 1340 1350
DPQTKEEVAS LRAKLSEEQK KQVDLERERA SQEEQIARKE EELSRVKERV
1360 1370 1380 1390 1400
VQQEVVRYEE EPGLRAEASA FAESIDVELR QIDKLRAELR RLQRRRTELE
1410 1420 1430 1440 1450
RQLEELERER QARREAEREV QRLQQRLAAL EQEEAEAREK VTHTQKVVLQ
1460 1470 1480 1490 1500
QDPQQAREHA LLRLQLEEEQ HRRQLLEGEL ETLRRKLAAL EKAEVKEKVV
1510 1520 1530 1540 1550
LSESVQVEKG DTEQEIQRLK SSLEEESRSK RELDVEVSRL EARLSELEFH
1560 1570 1580 1590 1600
NSKSSKELDF LREENHKLQL ERQNLQLETR RLQSEINMAA TETRDLRNMT
1610 1620 1630 1640 1650
VADSGTNHDS RLWSLERELD DLKRLSKDKD LEIDELQKRL GSVAVKREQR
1660 1670 1680 1690 1700
ENHLRRSIVV IHPDTGRELS PEEAHRAGLI DWNMFVKLRS QECDWEEISV
1710 1720 1730 1740 1750
KGPNGESSVI HDRKSGKKFS IEEALQSGRL TPAQYDRYVN KDMSIQELAV
LVSGQK
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketK7EKI8 | K7EKI8_HUMAN | Periplakin | PPL | 1,754 | Annotation score: | ||
K7EQ71 | K7EQ71_HUMAN | Periplakin | PPL | 1,115 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 657 | A → P in AAC39668 (PubMed:9521878).Curated | 1 | |
Sequence conflicti | 657 | A → P in AAD17459 (PubMed:10051401).Curated | 1 | |
Sequence conflicti | 994 | V → F in AAC17738 (PubMed:9412476).Curated | 1 | |
Sequence conflicti | 1663 | P → L in AAC17738 (PubMed:9412476).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_055125 | 520 | R → Q. Corresponds to variant dbSNP:rs8063727EnsemblClinVar. | 1 | |
Natural variantiVAR_055126 | 572 | A → S. Corresponds to variant dbSNP:rs35300633Ensembl. | 1 | |
Natural variantiVAR_055127 | 589 | R → Q4 PublicationsCorresponds to variant dbSNP:rs1049205Ensembl. | 1 | |
Natural variantiVAR_055128 | 631 | H → Y. Corresponds to variant dbSNP:rs34936263EnsemblClinVar. | 1 | |
Natural variantiVAR_055129 | 819 | R → S6 PublicationsCorresponds to variant dbSNP:rs2734742Ensembl. | 1 | |
Natural variantiVAR_055130 | 891 | E → Q. Corresponds to variant dbSNP:rs35869286Ensembl. | 1 | |
Natural variantiVAR_055131 | 1007 | A → V. Corresponds to variant dbSNP:rs2075639Ensembl. | 1 | |
Natural variantiVAR_055132 | 1199 | E → Q. Corresponds to variant dbSNP:rs12446946EnsemblClinVar. | 1 | |
Natural variantiVAR_055133 | 1573 | Q → E3 PublicationsCorresponds to variant dbSNP:rs2037912Ensembl. | 1 | |
Natural variantiVAR_055134 | 1754 | G → R. Corresponds to variant dbSNP:rs35865314Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF001691 mRNA Translation: AAC17738.1 AF013717 mRNA Translation: AAC39668.1 AF041004 , AF040999, AF041000, AF041002, AF041003 Genomic DNA Translation: AAD17459.1 AC027687 Genomic DNA No translation available. CH471112 Genomic DNA Translation: EAW85248.1 BC114620 mRNA Translation: AAI14621.1 AB011140 mRNA Translation: BAA25494.1 |
CCDSi | CCDS10526.1 |
PIRi | T00337 |
RefSeqi | NP_002696.3, NM_002705.4 |
Genome annotation databases
Ensembli | ENST00000345988; ENSP00000340510; ENSG00000118898 |
GeneIDi | 5493 |
KEGGi | hsa:5493 |
UCSCi | uc002cyd.1, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF001691 mRNA Translation: AAC17738.1 AF013717 mRNA Translation: AAC39668.1 AF041004 , AF040999, AF041000, AF041002, AF041003 Genomic DNA Translation: AAD17459.1 AC027687 Genomic DNA No translation available. CH471112 Genomic DNA Translation: EAW85248.1 BC114620 mRNA Translation: AAI14621.1 AB011140 mRNA Translation: BAA25494.1 |
CCDSi | CCDS10526.1 |
PIRi | T00337 |
RefSeqi | NP_002696.3, NM_002705.4 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4Q28 | X-ray | 2.64 | A/B/C/D | 1655-1756 | [»] | |
SMRi | O60437 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 111488, 103 interactors |
IntActi | O60437, 61 interactors |
MINTi | O60437 |
STRINGi | 9606.ENSP00000340510 |
PTM databases
iPTMneti | O60437 |
PhosphoSitePlusi | O60437 |
SwissPalmi | O60437 |
Genetic variation databases
BioMutai | PPL |
Proteomic databases
EPDi | O60437 |
jPOSTi | O60437 |
MassIVEi | O60437 |
MaxQBi | O60437 |
PaxDbi | O60437 |
PeptideAtlasi | O60437 |
PRIDEi | O60437 |
ProteomicsDBi | 49402 |
Protocols and materials databases
Antibodypediai | 24458, 188 antibodies |
Genome annotation databases
Ensembli | ENST00000345988; ENSP00000340510; ENSG00000118898 |
GeneIDi | 5493 |
KEGGi | hsa:5493 |
UCSCi | uc002cyd.1, human |
Organism-specific databases
CTDi | 5493 |
DisGeNETi | 5493 |
GeneCardsi | PPL |
HGNCi | HGNC:9273, PPL |
HPAi | ENSG00000118898, Tissue enhanced (esophagus, lymphoid tissue, tongue) |
MIMi | 602871, gene |
neXtProti | NX_O60437 |
OpenTargetsi | ENSG00000118898 |
PharmGKBi | PA33602 |
VEuPathDBi | HostDB:ENSG00000118898.15 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0516, Eukaryota |
GeneTreei | ENSGT00940000153578 |
InParanoidi | O60437 |
OMAi | EVHKVQQ |
OrthoDBi | 35436at2759 |
PhylomeDBi | O60437 |
TreeFami | TF342779 |
Enzyme and pathway databases
PathwayCommonsi | O60437 |
Reactomei | R-HSA-6809371, Formation of the cornified envelope R-HSA-8851680, Butyrophilin (BTN) family interactions |
Miscellaneous databases
BioGRID-ORCSi | 5493, 19 hits in 994 CRISPR screens |
ChiTaRSi | PPL, human |
GeneWikii | Periplakin |
GenomeRNAii | 5493 |
Pharosi | O60437, Tbio |
PROi | PR:O60437 |
RNActi | O60437, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000118898, Expressed in mouth mucosa and 216 other tissues |
ExpressionAtlasi | O60437, baseline and differential |
Genevisiblei | O60437, HS |
Family and domain databases
InterProi | View protein in InterPro IPR041615, Desmoplakin_SH3 IPR043197, Plakin IPR035915, Plakin_repeat_sf IPR001101, Plectin_repeat IPR001452, SH3_domain IPR018159, Spectrin/alpha-actinin |
PANTHERi | PTHR23169, PTHR23169, 1 hit |
Pfami | View protein in Pfam PF17902, SH3_10, 1 hit |
SMARTi | View protein in SMART SM00250, PLEC, 2 hits SM00150, SPEC, 5 hits |
SUPFAMi | SSF75399, SSF75399, 1 hit |
PROSITEi | View protein in PROSITE PS50002, SH3, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PEPL_HUMAN | |
Accessioni | O60437Primary (citable) accession number: O60437 Secondary accession number(s): O60314, O60454, Q14C98 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 1, 2001 |
Last sequence update: | January 11, 2011 | |
Last modified: | April 7, 2021 | |
This is version 186 of the entry and version 4 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 16
Human chromosome 16: 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 - SIMILARITY comments
Index of protein domains and families