Reviewed,
UniProtKB/Swiss-Prot O60437 (PEPL_HUMAN)
Last modified
January 19, 2010.
Version 92.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Periplakin Alternative name(s): 195 kDa cornified envelope precursor protein 190 kDa paraneoplastic pemphigus antigen | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Complete proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 1756 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | 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. Ref.1 |
| Subunit structure | Homodimer or a heterodimer with EVPL. Interacts with PPHLN1 and VIM. Binds to the PH domain of AKT1. Interacts with FCGR1A. Ref.1 Ref.8 Ref.9 |
| Subcellular location | Cell junction › desmosome. Cytoplasm › cytoskeleton. Cell membrane By similarity. Nucleus By similarity. Mitochondrion By similarity. Note: Associated with desmosomes and intermediate filaments. Ref.1 |
| Tissue specificity | Expressed in stratified squamous epithelia and in some other epithelia. Ref.1 Ref.2 |
| Induction | During differentiation of epidermal keratinocytes. Ref.1 |
| Sequence similarities | Belongs to the plakin or cytolinker family. Contains 2 plectin repeats. Contains 4 spectrin repeats. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Keratinization |
| Cellular component | Cell junction Cell membrane Cytoplasm Cytoskeleton Membrane Mitochondrion Nucleus |
| Coding sequence diversity | Polymorphism |
| Domain | Coiled coil Repeat |
| PTM | Phosphoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | keratinization Inferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | cytoskeleton Ref.2 Traceable author statement. Source: ProtInc desmosomeInferred from electronic annotation. Source: UniProtKB-SubCell mitochondrionInferred from electronic annotation. Source: UniProtKB-SubCell nucleusInferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | protein binding Ref.8 Inferred from physical interaction. Source: IntAct structural constituent of cytoskeleton Ref.2Traceable author statement. Source: ProtInc |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1756 | 1756 | Periplakin | PRO_0000078149 | |||||
Regions | |||||||||
| Repeat | 216 – 317 | 102 | Spectrin 1 | ||||||
| Repeat | 323 – 485 | 163 | Spectrin 2 | ||||||
| Repeat | 505 – 612 | 108 | Spectrin 3 | ||||||
| Repeat | 733 – 861 | 129 | Spectrin 4 | ||||||
| Repeat | 1651 – 1685 | 35 | Plectin 1 | ||||||
| Repeat | 1700 – 1735 | 36 | Plectin 2 | ||||||
| Coiled coil | 16 – 125 | 110 | Potential | ||||||
| Coiled coil | 188 – 389 | 202 | Potential | ||||||
| Coiled coil | 585 – 820 | 236 | Potential | ||||||
| Coiled coil | 886 – 1645 | 760 | Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 14 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1331 | 1 | Phosphoserine Ref.10 | ||||||
| Modified residue | 1579 | 1 | Phosphothreonine Ref.11 | ||||||
| Modified residue | 1657 | 1 | Phosphoserine By similarity | ||||||
Natural variations | |||||||||
| Natural variant | 520 | 1 | R → Q: dbSNP rs8063727. | VAR_055125 | |||||
| Natural variant | 572 | 1 | A → S: dbSNP rs35300633. | VAR_055126 | |||||
| Natural variant | 589 | 1 | R → Q: dbSNP rs1049205. Ref.1 Ref.5 Ref.6 Ref.7 | VAR_055127 | |||||
| Natural variant | 631 | 1 | H → Y: dbSNP rs34936263. | VAR_055128 | |||||
| Natural variant | 819 | 1 | S → R: dbSNP rs2734742. Ref.4 | VAR_055129 | |||||
| Natural variant | 891 | 1 | E → Q: dbSNP rs35869286. | VAR_055130 | |||||
| Natural variant | 1007 | 1 | A → V: dbSNP rs2075639. | VAR_055131 | |||||
| Natural variant | 1199 | 1 | E → Q: dbSNP rs12446946. | VAR_055132 | |||||
| Natural variant | 1573 | 1 | Q → E: dbSNP rs2037912. Ref.5 Ref.6 Ref.7 | VAR_055133 | |||||
| Natural variant | 1754 | 1 | G → R: dbSNP rs35865314. | VAR_055134 | |||||
Experimental info | |||||||||
| Sequence conflict | 657 | 1 | A → P in AAC39668. Ref.2 | ||||||
| Sequence conflict | 657 | 1 | A → P in AAD17459. Ref.3 | ||||||
| Sequence conflict | 994 | 1 | V → F in AAC17738. Ref.1 | ||||||
| Sequence conflict | 1663 | 1 | P → L in AAC17738. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Periplakin, a novel component of cornified envelopes and desmosomes that belongs to the plakin family and forms complexes with envoplakin." Ruhrberg C., Hajibagheri M.A.N., Parry D.A.D., Watt F.M. J. Cell Biol. 139:1835-1849(1997) [PubMed: 9412476] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INDUCTION, INTERACTION WITH EVPL, VARIANT GLN-589. Tissue: Keratinocyte. |
| [2] | "cDNA cloning, mRNA expression, and chromosomal mapping of human and mouse periplakin genes." Aho S., McLean W.H.I., Li K., Uitto J. Genomics 48:242-247(1998) [PubMed: 9521878] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY. Tissue: Keratinocyte. |
| [3] | "Human periplakin: genomic organization in a clonally unstable region of chromosome 16p with an abundance of repetitive sequence elements." Aho S., Rothenberger K., Tan E.M.L., Ryoo Y.W., Cho B.H., McLean W.H.I., Uitto J. Genomics 56:160-168(1999) [PubMed: 10051401] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. |
| [4] | "The sequence and analysis of duplication-rich human chromosome 16." Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. Pennacchio L.A.Nature 432:988-994(2004) [PubMed: 15616553] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ARG-819. |
| [5] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS GLN-589 AND GLU-1573. |
| [6] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS GLN-589 AND GLU-1573. |
| [7] | "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:31-39(1998) [PubMed: 9628581] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 331-1756, VARIANTS GLN-589 AND GLU-1573. Tissue: Brain. |
| [8] | "Binding of protein kinase B to the plakin family member periplakin." van den Heuvel A.P., de Vries-Smits A.M.M., van Weeren P.C., Dijkers P.F., de Bruyn K.M., Riedl J.A., Burgering B.M.T. J. Cell Sci. 115:3957-3966(2002) [PubMed: 12244133] [Abstract] Cited for: INTERACTION WITH AKT1. Tissue: Embryo. |
| [9] | "Direct interaction between FcgammaRI (CD64) and periplakin controls receptor endocytosis and ligand binding capacity." Beekman J.M., Bakema J.E., van de Winkel J.G.J., Leusen J.H.W. Proc. Natl. Acad. Sci. U.S.A. 101:10392-10397(2004) [PubMed: 15229321] [Abstract] Cited for: INTERACTION WITH FCGR1A. |
| [10] | "Large-scale characterization of HeLa cell nuclear phosphoproteins." Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004) [PubMed: 15302935] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1331, MASS SPECTROMETRY. Tissue: Epithelium. |
| [11] | "Phosphoproteome analysis of the human mitotic spindle." Nousiainen M., Sillje H.H.W., Sauer G., Nigg E.A., Koerner R. Proc. Natl. Acad. Sci. U.S.A. 103:5391-5396(2006) [PubMed: 16565220] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-1579, MASS SPECTROMETRY. Tissue: Epithelium. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF001691 mRNA. Translation: AAC17738.1. AF013717 mRNA. Translation: AAC39668.1. AF041004 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. |
| IPI | IPI00298057. |
| PIR | T00337. |
| RefSeq | NP_002696.3. |
| UniGene | Hs.192233 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | O60437. 3 interactions. |
| STRING | O60437. |
PTM databases | |
| PhosphoSite | O60437. |
Proteomic databases | |
| PRIDE | O60437. |
Genome annotation databases | |
| Ensembl | ENST00000345988; ENSP00000340510; ENSG00000118898; Homo sapiens. [Genome view] |
| GeneID | 5493. |
| KEGG | hsa:5493. |
Organism-specific databases | |
| CTD | 5493. |
| GeneCards | GC16M004872. |
| H-InvDB | HIX0012794. |
| HGNC | HGNC:9273. PPL. |
| MIM | 602871. gene. |
| PharmGKB | PA142671174. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG11981. |
| HOGENOM | HBG716998. |
| HOVERGEN | O60437. |
| InParanoid | O60437. |
Gene expression databases | |
| ArrayExpress | O60437. |
| Bgee | O60437. |
| CleanEx | HS_PPL. |
| Genevestigator | O60437. |
| GermOnline | ENSG00000118898. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR001101. Plectin_repeat. IPR018159. Spectrin/alpha-actinin. [Graphical view] |
| Pfam | PF00681. Plectin. 1 hit. [Graphical view] |
| SMART | SM00250. PLEC. 2 hits. SM00150. SPEC. 5 hits. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 21238. |
| SOURCE | Search... |
Entry information
| Entry name | PEPL_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O60437 Secondary accession number(s): O60314, O60454, Q14C98 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| 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. | ||||||||
Relevant documents
| Human chromosome 16 Human chromosome 16: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


