Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5493
Gene name Gene Name - the full gene name approved by the HGNC.	Periplakin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PPL
Synonyms (NCBI Gene) Gene synonyms aliases	-
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16p13.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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	Microarray, qRT-PCR	22815788
MIRT654873	hsa-miR-4761-5p	HITS-CLIP	23824327
MIRT654872	hsa-miR-4639-3p	HITS-CLIP	23824327
MIRT654871	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT654870	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT654869	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT654868	hsa-miR-561-5p	HITS-CLIP	23824327
MIRT654867	hsa-miR-6794-3p	HITS-CLIP	23824327
MIRT654866	hsa-miR-1229-3p	HITS-CLIP	23824327
MIRT439923	hsa-miR-127-5p	HITS-CLIP	24374217
MIRT439922	hsa-miR-412-3p	HITS-CLIP	24374217
MIRT439923	hsa-miR-127-5p	HITS-CLIP	24374217
MIRT439922	hsa-miR-412-3p	HITS-CLIP	24374217
MIRT654873	hsa-miR-4761-5p	HITS-CLIP	23824327
MIRT654872	hsa-miR-4639-3p	HITS-CLIP	23824327
MIRT654871	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT654870	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT654869	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT654868	hsa-miR-561-5p	HITS-CLIP	23824327
MIRT654867	hsa-miR-6794-3p	HITS-CLIP	23824327
MIRT654866	hsa-miR-1229-3p	HITS-CLIP	23824327
MIRT1253514	hsa-miR-1208	CLIP-seq
MIRT1253515	hsa-miR-1231	CLIP-seq
MIRT1253516	hsa-miR-1257	CLIP-seq
MIRT1253517	hsa-miR-1266	CLIP-seq
MIRT1253518	hsa-miR-1302	CLIP-seq
MIRT1253519	hsa-miR-3065-3p	CLIP-seq
MIRT1253520	hsa-miR-3120-5p	CLIP-seq
MIRT1253521	hsa-miR-3122	CLIP-seq
MIRT1253522	hsa-miR-338-3p	CLIP-seq
MIRT1253523	hsa-miR-34a	CLIP-seq
MIRT1253524	hsa-miR-34c-5p	CLIP-seq
MIRT1253525	hsa-miR-3605-5p	CLIP-seq
MIRT1253526	hsa-miR-3650	CLIP-seq
MIRT1253527	hsa-miR-3652	CLIP-seq
MIRT1253528	hsa-miR-3913-5p	CLIP-seq
MIRT1253529	hsa-miR-4298	CLIP-seq
MIRT1253530	hsa-miR-4299	CLIP-seq
MIRT1253531	hsa-miR-4422	CLIP-seq
MIRT1253532	hsa-miR-4425	CLIP-seq
MIRT1253533	hsa-miR-4430	CLIP-seq
MIRT1253534	hsa-miR-4443	CLIP-seq
MIRT1253535	hsa-miR-4446-3p	CLIP-seq
MIRT1253536	hsa-miR-4456	CLIP-seq
MIRT1253537	hsa-miR-4492	CLIP-seq
MIRT1253538	hsa-miR-4498	CLIP-seq
MIRT1253539	hsa-miR-449a	CLIP-seq
MIRT1253540	hsa-miR-449b	CLIP-seq
MIRT1253541	hsa-miR-4518	CLIP-seq
MIRT1253542	hsa-miR-4530	CLIP-seq
MIRT1253543	hsa-miR-4638-3p	CLIP-seq
MIRT1253544	hsa-miR-4721	CLIP-seq
MIRT1253545	hsa-miR-4733-3p	CLIP-seq
MIRT1253546	hsa-miR-486-3p	CLIP-seq
MIRT1253547	hsa-miR-494	CLIP-seq
MIRT1253548	hsa-miR-508-5p	CLIP-seq
MIRT1253549	hsa-miR-510	CLIP-seq
MIRT1253550	hsa-miR-543	CLIP-seq
MIRT1253551	hsa-miR-548q	CLIP-seq
MIRT1253552	hsa-miR-597	CLIP-seq
MIRT1253553	hsa-miR-598	CLIP-seq
MIRT1253554	hsa-miR-668	CLIP-seq
MIRT1253555	hsa-miR-762	CLIP-seq
MIRT1253556	hsa-miR-765	CLIP-seq
MIRT1253557	hsa-miR-766	CLIP-seq
MIRT2074705	hsa-miR-122	CLIP-seq
MIRT1253516	hsa-miR-1257	CLIP-seq
MIRT1253517	hsa-miR-1266	CLIP-seq
MIRT2074706	hsa-miR-1273g	CLIP-seq
MIRT1253518	hsa-miR-1302	CLIP-seq
MIRT2074707	hsa-miR-140-5p	CLIP-seq
MIRT2074708	hsa-miR-147	CLIP-seq
MIRT2074709	hsa-miR-15a	CLIP-seq
MIRT2074710	hsa-miR-15b	CLIP-seq
MIRT2074711	hsa-miR-16	CLIP-seq
MIRT2074712	hsa-miR-195	CLIP-seq
MIRT2074713	hsa-miR-205	CLIP-seq
MIRT2074714	hsa-miR-2355-3p	CLIP-seq
MIRT2074715	hsa-miR-2681	CLIP-seq
MIRT2074716	hsa-miR-299-3p	CLIP-seq
MIRT1253521	hsa-miR-3122	CLIP-seq
MIRT2074717	hsa-miR-3150b-3p	CLIP-seq
MIRT2074718	hsa-miR-3163	CLIP-seq
MIRT2074719	hsa-miR-3192	CLIP-seq
MIRT2074720	hsa-miR-3662	CLIP-seq
MIRT1253528	hsa-miR-3913-5p	CLIP-seq
MIRT2074721	hsa-miR-3921	CLIP-seq
MIRT2074722	hsa-miR-3924	CLIP-seq
MIRT2074723	hsa-miR-3942-3p	CLIP-seq
MIRT2074724	hsa-miR-3944-5p	CLIP-seq
MIRT2074725	hsa-miR-424	CLIP-seq
MIRT2074726	hsa-miR-4265	CLIP-seq
MIRT2074727	hsa-miR-4276	CLIP-seq
MIRT2074728	hsa-miR-4296	CLIP-seq
MIRT1253529	hsa-miR-4298	CLIP-seq
MIRT2074729	hsa-miR-4303	CLIP-seq
MIRT2074730	hsa-miR-4322	CLIP-seq
MIRT2074731	hsa-miR-4417	CLIP-seq
MIRT2074732	hsa-miR-4421	CLIP-seq
MIRT1253532	hsa-miR-4425	CLIP-seq
MIRT1253536	hsa-miR-4456	CLIP-seq
MIRT2074733	hsa-miR-4468	CLIP-seq
MIRT2074734	hsa-miR-4481	CLIP-seq
MIRT2074735	hsa-miR-4491	CLIP-seq
MIRT1253541	hsa-miR-4518	CLIP-seq
MIRT2074736	hsa-miR-4522	CLIP-seq
MIRT2074737	hsa-miR-4653-5p	CLIP-seq
MIRT2074738	hsa-miR-4657	CLIP-seq
MIRT2074739	hsa-miR-4689	CLIP-seq
MIRT2074740	hsa-miR-4714-5p	CLIP-seq
MIRT2074741	hsa-miR-4731-5p	CLIP-seq
MIRT1253545	hsa-miR-4733-3p	CLIP-seq
MIRT2074742	hsa-miR-4745-5p	CLIP-seq
MIRT2074743	hsa-miR-4784	CLIP-seq
MIRT2074744	hsa-miR-497	CLIP-seq
MIRT1253549	hsa-miR-510	CLIP-seq
MIRT2074745	hsa-miR-568	CLIP-seq
MIRT2074746	hsa-miR-604	CLIP-seq
MIRT2074747	hsa-miR-647	CLIP-seq
MIRT1253554	hsa-miR-668	CLIP-seq
MIRT2074748	hsa-miR-676	CLIP-seq
MIRT2074749	hsa-miR-885-3p	CLIP-seq
MIRT2074705	hsa-miR-122	CLIP-seq
MIRT2074706	hsa-miR-1273g	CLIP-seq
MIRT2074707	hsa-miR-140-5p	CLIP-seq
MIRT2301594	hsa-miR-1825	CLIP-seq
MIRT2074716	hsa-miR-299-3p	CLIP-seq
MIRT2301595	hsa-miR-3157-5p	CLIP-seq
MIRT2074718	hsa-miR-3163	CLIP-seq
MIRT2301596	hsa-miR-3177-5p	CLIP-seq
MIRT2074719	hsa-miR-3192	CLIP-seq
MIRT2301597	hsa-miR-346	CLIP-seq
MIRT2074721	hsa-miR-3921	CLIP-seq
MIRT2074722	hsa-miR-3924	CLIP-seq
MIRT2301598	hsa-miR-3943	CLIP-seq
MIRT2074726	hsa-miR-4265	CLIP-seq
MIRT2074727	hsa-miR-4276	CLIP-seq
MIRT2074728	hsa-miR-4296	CLIP-seq
MIRT2074729	hsa-miR-4303	CLIP-seq
MIRT2074730	hsa-miR-4322	CLIP-seq
MIRT2074731	hsa-miR-4417	CLIP-seq
MIRT2074732	hsa-miR-4421	CLIP-seq
MIRT2301599	hsa-miR-4423-5p	CLIP-seq
MIRT2074733	hsa-miR-4468	CLIP-seq
MIRT2074734	hsa-miR-4481	CLIP-seq
MIRT2074735	hsa-miR-4491	CLIP-seq
MIRT2301600	hsa-miR-4514	CLIP-seq
MIRT2074736	hsa-miR-4522	CLIP-seq
MIRT2301601	hsa-miR-4640-5p	CLIP-seq
MIRT2301602	hsa-miR-4645-5p	CLIP-seq
MIRT2074737	hsa-miR-4653-5p	CLIP-seq
MIRT2074738	hsa-miR-4657	CLIP-seq
MIRT2301603	hsa-miR-4673	CLIP-seq
MIRT2301604	hsa-miR-4676-5p	CLIP-seq
MIRT2301605	hsa-miR-4691-3p	CLIP-seq
MIRT2301606	hsa-miR-4692	CLIP-seq
MIRT2301607	hsa-miR-4700-3p	CLIP-seq
MIRT2074740	hsa-miR-4714-5p	CLIP-seq
MIRT2301608	hsa-miR-4726-5p	CLIP-seq
MIRT2074741	hsa-miR-4731-5p	CLIP-seq
MIRT1253545	hsa-miR-4733-3p	CLIP-seq
MIRT2074742	hsa-miR-4745-5p	CLIP-seq
MIRT2301609	hsa-miR-4755-3p	CLIP-seq
MIRT2301610	hsa-miR-515-3p	CLIP-seq
MIRT2301611	hsa-miR-519e	CLIP-seq
MIRT2301612	hsa-miR-550a	CLIP-seq
MIRT2074745	hsa-miR-568	CLIP-seq
MIRT2301613	hsa-miR-575	CLIP-seq
MIRT2074746	hsa-miR-604	CLIP-seq
MIRT2074747	hsa-miR-647	CLIP-seq
MIRT2074749	hsa-miR-885-3p	CLIP-seq
MIRT2074705	hsa-miR-122	CLIP-seq
MIRT2301596	hsa-miR-3177-5p	CLIP-seq
MIRT2074719	hsa-miR-3192	CLIP-seq
MIRT2301607	hsa-miR-4700-3p	CLIP-seq
MIRT2074741	hsa-miR-4731-5p	CLIP-seq
MIRT2598286	hsa-miR-4503	CLIP-seq
MIRT2598287	hsa-miR-516b	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
SP1	Activation	19583808

Show/Hide all(18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	TAS
GO:0005198	Function	Structural molecule activity	IBA	21873635
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	9521878
GO:0005515	Function	Protein binding	IPI	12244133, 17500595, 18624398, 22841549, 25416956, 25637025, 31980649, 32296183, 32814053
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	TAS	9521878
GO:0005882	Component	Intermediate filament	IBA	21873635
GO:0005886	Component	Plasma membrane	ISS
GO:0009612	Process	Response to mechanical stimulus	IEP	19211270
GO:0016020	Component	Membrane	IBA	21873635
GO:0030057	Component	Desmosome	IEA
GO:0042060	Process	Wound healing	IBA	21873635
GO:0045104	Process	Intermediate filament cytoskeleton organization	IBA	21873635
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708
GO:0070268	Process	Cornification	TAS

MIM	HGNC	e!Ensembl
602871	9273	ENSG00000118898

Protein

UniProt ID

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
YSYTLQKNNGESWELMDSAGNKLIAPAVCFVIPPTDPEALALADSLGSQYRSVRQKAAGS
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

	Reactome
			Formation of the cornified envelope Butyrophilin (BTN) family interactions

Show/Hide Causal Diseases (3)

Disease term	Disease name	dbSNP ID	References
Causal
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)	22843504
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	27903959
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	29610475

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text Mining
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
Pemphigus	Associate	11286623
Squamous Cell Carcinoma of Head and Neck	Associate	37092360
Stomach Neoplasms	Associate	30097497
Thyroid Neoplasms	Associate	32737449
Urinary Bladder Neoplasms	Inhibit	24942859
Urinary Bladder Neoplasms	Associate	25520130

PPL (periplakin)