Gene Gene information from NCBI Gene database.
Entrez ID 5493
Gene name Periplakin
Gene symbol PPL
Synonyms (NCBI Gene)
-
Chromosome 16
Chromosome location 16p13.3
Summary The protein encoded by this gene is a component of desmosomes and of the epidermal cornified envelope in keratinocytes. The N-terminal domain of this protein interacts with the plasma membrane and its C-terminus interacts with intermediate filaments. Thro
miRNA miRNA information provided by mirtarbase database.
182
miRTarBase ID miRNA Experiments Reference
MIRT001519 hsa-miR-155-5p pSILAC 18668040
MIRT018065 hsa-miR-335-5p Microarray 18185580
MIRT001519 hsa-miR-155-5p Proteomics;Other 18668040
MIRT045015 hsa-miR-186-5p CLASH 23622248
MIRT001519 hsa-miR-155-5p MicroarrayqRT-PCR 22815788
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SP1 Activation 19583808
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0001533 Component Cornified envelope IEA
GO:0001533 Component Cornified envelope TAS
GO:0005198 Function Structural molecule activity IBA
GO:0005200 Function Structural constituent of cytoskeleton TAS 9521878
GO:0005515 Function Protein binding IPI 12244133, 17500595, 18624398, 22841549, 25416956, 25637025, 31980649, 32296183, 32814053, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602871 9273 ENSG00000118898
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60437
Protein name Periplakin (190 kDa paraneoplastic pemphigus antigen) (195 kDa cornified envelope precursor protein)
Protein 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.
PDB 4Q28
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17902 SH3_10 390 453 SH3 domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in stratified squamous epithelia and in some other epithelia. {ECO:0000269|PubMed:9412476, ECO:0000269|PubMed:9521878}.
Sequence
MNSLFRKRNKGKYSPTVQTRSISNKELSELIEQLQKNADQVEKNIVDTEAKMQSDLARLQ
EGRQPEHRDVTLQKVLDSEKLLYVLEADAAIAKHMKHPQGDMIAEDIRQLKERVTNLRGK
HKQIYRLAVKEVDPQVNWAALVEEKLDKLNNQSFGTDLPLVDHQVEEHNIFHNEVKAIGP
HLAKDGDKEQNSELRAKYQKLLAASQARQQHLSSLQDYMQRCTNELYWLDQQAKGRMQYD
WSDRNLDYPSRRRQYENFINRNLEAKEERINKLHSEGDQLLAAEHPGRNSIEAHMEAVHA
DWKEYLNLLICEESHLKYMEDYHQFHEDVKDAQELLRKVDSDLNQKYGPDFKDRYQIELL
LRELDDQEKVLDKYEDVVQGLQKRGQQVVPLKYRRETPLKPIPVEALCDFEGEQGLISRG
YSYTLQKNNGESWELMDSAGNKLIAPAVCFVIP
PTDPEALALADSLGSQYRSVRQKAAGS
KRTLQQRYEVLKTENPGDASDLQGRQLLAGLDKVASDLDRQEKAITGILRPPLEQGRAVQ
DSAERAKDLKNITNELLRIEPEKTRSTAEGEAFIQALPGSGTTPLLRTRVEDTNRKYEHL
LQLLDLAQEKVDVANRLEKSLQQSWELLATHENHLNQDDTVPESSRVLDSKGQELAAMAC
ELQAQKSLLGEVEQNLQAAKQCSSTLASRFQEHCPDLERQEAEVHKLGQRFNNLRQQVER
RAQSLQSAKAAYEHFHRGHDHVLQFLVSIPSYEPQETDSLSQMETKLKNQKNLLDEIASR
EQEVQKICANSQQYQQAVKDYELEAEKLRSLLDLENGRRSHVSKRARLQSPATKVKEEEA
ALAAKFTEVYAINRQRLQNLEFALNLLRQQPEVEVTHETLQRNRPDSGVEEAWKIRKELD
EETERRRQLENEVKSTQEEIWTLRNQGPQESVVRKEVLKKVPDPVLEESFQQLQRTLAEE
QHKNQLLQEELEALQLQLRALEQETRDGGQEYVVKEVLRIEPDRAQADEVLQLREELEAL
RRQKGAREAEVLLLQQRVAALAEEKSRAQEKVTEKEVVKLQNDPQLEAEYQQLQEDHQRQ
DQLREKQEEELSFLQDKLKRLEKERAMAEGKITVKEVLKVEKDAATEREVSDLTRQYEDE
AAKARASQREKTELLRKIWALEEENAKVVVQEKVREIVRPDPKAESEVANLRLELVEQER
KYRGAEEQLRSYQSELEALRRRGPQVEVKEVTKEVIKYKTDPEMEKELQRLREEIVDKTR
LIERCDLEIYQLKKEIQALKDTKPQVQTKEVVQEILQFQEDPQTKEEVASLRAKLSEEQK
KQVDLERERASQEEQIARKEEELSRVKERVVQQEVVRYEEEPGLRAEASAFAESIDVELR
QIDKLRAELRRLQRRRTELERQLEELERERQARREAEREVQRLQQRLAALEQEEAEAREK
VTHTQKVVLQQDPQQAREHALLRLQLEEEQHRRQLLEGELETLRRKLAALEKAEVKEKVV
LSESVQVEKGDTEQEIQRLKSSLEEESRSKRELDVEVSRLEARLSELEFHNSKSSKELDF
LREENHKLQLERQNLQLETRRLQSEINMAATETRDLRNMTVADSGTNHDSRLWSLERELD
DLKRLSKDKDLEIDELQKRLGSVAVKREQRENHLRRSIVVIHPDTGRELSPEEAHRAGLI
DWNMFVKLRSQECDWEEISVKGPNGESSVIHDRKSGKKFSIEEALQSGRLTPAQYDRYVN
KDMSIQELAVLVSGQK
Sequence length 1756
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Formation of the cornified envelope
Butyrophilin (BTN) family interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
12
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs111499322 RCV005904623
Cervical cancer Benign rs111499322 RCV005904624
Clear cell carcinoma of kidney Benign rs74003566, rs111499322 RCV005913203
RCV005904625
Gastric cancer Benign rs74003566 RCV005913204
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Dermatitis Atopic Associate 33975024
Eosinophilic Esophagitis Associate 34815391
Esophageal Squamous Cell Carcinoma Inhibit 25583674
Idiopathic Pulmonary Fibrosis Associate 37080573
Inflammation Stimulate 37080573
Lung Injury Stimulate 37080573
Muscle Neoplasms Stimulate 25520130
Neoplasms Inhibit 24942859
Neoplasms Associate 25520130, 29975213
Pancreatic Neoplasms Associate 34321959