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PKP1 (plakophilin 1)

Gene

5317

Plakophilin 1

PKP1

B6P, EDSFS

1q32.1

This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the

Show/Hide all(7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918354	C>T	Pathogenic	Stop gained, coding sequence variant
rs483352688	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1131691647	C>T	Pathogenic	Stop gained, coding sequence variant
rs1553275192	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1558193923	A>G,T	Pathogenic	Splice acceptor variant
rs1571557821	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571564381	G>A	Pathogenic	Splice donor variant

Show/Hide all(224)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019417	hsa-miR-148b-3p	Microarray	17612493
MIRT639435	hsa-miR-3973	HITS-CLIP	23824327
MIRT639434	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT639433	hsa-miR-520h	HITS-CLIP	23824327
MIRT639432	hsa-miR-4328	HITS-CLIP	23824327
MIRT639431	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT639430	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT639429	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT639428	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT639427	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT639426	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT639425	hsa-miR-4797-3p	HITS-CLIP	23824327
MIRT639424	hsa-miR-4264	HITS-CLIP	23824327
MIRT639423	hsa-miR-4749-3p	HITS-CLIP	23824327
MIRT639422	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT639421	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT639420	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT625974	hsa-miR-8485	HITS-CLIP	23824327
MIRT625973	hsa-miR-4643	HITS-CLIP	23824327
MIRT625972	hsa-miR-3939	HITS-CLIP	23824327
MIRT625971	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT625970	hsa-miR-5589-3p	HITS-CLIP	23824327
MIRT625969	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT528864	hsa-miR-124-3p	PAR-CLIP	22012620
MIRT528863	hsa-miR-483-3p	PAR-CLIP	22012620
MIRT528862	hsa-miR-4690-5p	PAR-CLIP	22012620
MIRT528861	hsa-miR-6736-3p	PAR-CLIP	22012620
MIRT528860	hsa-miR-4650-5p	PAR-CLIP	22012620
MIRT528859	hsa-miR-3921	PAR-CLIP	22012620
MIRT528858	hsa-miR-4653-5p	PAR-CLIP	22012620
MIRT528857	hsa-miR-1199-5p	PAR-CLIP	22012620
MIRT528856	hsa-miR-6751-3p	PAR-CLIP	22012620
MIRT528855	hsa-miR-605-3p	PAR-CLIP	22012620
MIRT528854	hsa-miR-4468	PAR-CLIP	22012620
MIRT528853	hsa-miR-767-5p	PAR-CLIP	22012620
MIRT528852	hsa-miR-593-5p	PAR-CLIP	22012620
MIRT528851	hsa-miR-6780a-3p	PAR-CLIP	22012620
MIRT528850	hsa-miR-4303	PAR-CLIP	22012620
MIRT639435	hsa-miR-3973	HITS-CLIP	23824327
MIRT639434	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT639433	hsa-miR-520h	HITS-CLIP	23824327
MIRT639432	hsa-miR-4328	HITS-CLIP	23824327
MIRT639431	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT639430	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT639429	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT639428	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT639427	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT639426	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT639425	hsa-miR-4797-3p	HITS-CLIP	23824327
MIRT639424	hsa-miR-4264	HITS-CLIP	23824327
MIRT639423	hsa-miR-4749-3p	HITS-CLIP	23824327
MIRT639422	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT639421	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT639420	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT625974	hsa-miR-8485	HITS-CLIP	23824327
MIRT625973	hsa-miR-4643	HITS-CLIP	23824327
MIRT625972	hsa-miR-3939	HITS-CLIP	23824327
MIRT625971	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT625970	hsa-miR-5589-3p	HITS-CLIP	23824327
MIRT625969	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT528864	hsa-miR-124-3p	PAR-CLIP	22012620
MIRT528863	hsa-miR-483-3p	PAR-CLIP	22012620
MIRT528862	hsa-miR-4690-5p	PAR-CLIP	22012620
MIRT528861	hsa-miR-6736-3p	PAR-CLIP	22012620
MIRT528860	hsa-miR-4650-5p	PAR-CLIP	22012620
MIRT528859	hsa-miR-3921	PAR-CLIP	22012620
MIRT528858	hsa-miR-4653-5p	PAR-CLIP	22012620
MIRT528857	hsa-miR-1199-5p	PAR-CLIP	22012620
MIRT528856	hsa-miR-6751-3p	PAR-CLIP	22012620
MIRT528855	hsa-miR-605-3p	PAR-CLIP	22012620
MIRT528854	hsa-miR-4468	PAR-CLIP	22012620
MIRT528853	hsa-miR-767-5p	PAR-CLIP	22012620
MIRT528852	hsa-miR-593-5p	PAR-CLIP	22012620
MIRT528851	hsa-miR-6780a-3p	PAR-CLIP	22012620
MIRT528850	hsa-miR-4303	PAR-CLIP	22012620
MIRT1238024	hsa-miR-125a-5p	CLIP-seq
MIRT1238025	hsa-miR-125b	CLIP-seq
MIRT1238026	hsa-miR-1271	CLIP-seq
MIRT1238027	hsa-miR-1284	CLIP-seq
MIRT1238028	hsa-miR-182	CLIP-seq
MIRT1238029	hsa-miR-3156-3p	CLIP-seq
MIRT1238030	hsa-miR-370	CLIP-seq
MIRT1238031	hsa-miR-4301	CLIP-seq
MIRT1238032	hsa-miR-4319	CLIP-seq
MIRT1238033	hsa-miR-4324	CLIP-seq
MIRT1238034	hsa-miR-4419a	CLIP-seq
MIRT1238035	hsa-miR-4470	CLIP-seq
MIRT1238036	hsa-miR-4510	CLIP-seq
MIRT1238037	hsa-miR-4693-3p	CLIP-seq
MIRT1238038	hsa-miR-4732-3p	CLIP-seq
MIRT1238039	hsa-miR-4775	CLIP-seq
MIRT1238040	hsa-miR-548l	CLIP-seq
MIRT1238041	hsa-miR-579	CLIP-seq
MIRT1238042	hsa-miR-670	CLIP-seq
MIRT1238043	hsa-miR-96	CLIP-seq
MIRT1238044	hsa-miR-1288	CLIP-seq
MIRT1238045	hsa-miR-1299	CLIP-seq
MIRT1238046	hsa-miR-214	CLIP-seq
MIRT1238047	hsa-miR-3120-5p	CLIP-seq
MIRT1238048	hsa-miR-3125	CLIP-seq
MIRT1238049	hsa-miR-3194-3p	CLIP-seq
MIRT1238050	hsa-miR-3615	CLIP-seq
MIRT1238051	hsa-miR-3619-5p	CLIP-seq
MIRT1238052	hsa-miR-3679-3p	CLIP-seq
MIRT1238030	hsa-miR-370	CLIP-seq
MIRT1238053	hsa-miR-378g	CLIP-seq
MIRT1238054	hsa-miR-3909	CLIP-seq
MIRT1238055	hsa-miR-3916	CLIP-seq
MIRT1238056	hsa-miR-3917	CLIP-seq
MIRT1238057	hsa-miR-4257	CLIP-seq
MIRT1238058	hsa-miR-4258	CLIP-seq
MIRT1238059	hsa-miR-4330	CLIP-seq
MIRT1238060	hsa-miR-4437	CLIP-seq
MIRT1238061	hsa-miR-4469	CLIP-seq
MIRT1238062	hsa-miR-4674	CLIP-seq
MIRT1238038	hsa-miR-4732-3p	CLIP-seq
MIRT1238063	hsa-miR-603	CLIP-seq
MIRT1238064	hsa-miR-626	CLIP-seq
MIRT1238065	hsa-miR-760	CLIP-seq
MIRT1238066	hsa-miR-761	CLIP-seq
MIRT1238067	hsa-miR-767-3p	CLIP-seq
MIRT1238068	hsa-miR-875-3p	CLIP-seq
MIRT2069997	hsa-miR-1205	CLIP-seq
MIRT2069998	hsa-miR-1207-3p	CLIP-seq
MIRT2069999	hsa-miR-1233	CLIP-seq
MIRT2070000	hsa-miR-1238	CLIP-seq
MIRT2070001	hsa-miR-124	CLIP-seq
MIRT2070002	hsa-miR-1286	CLIP-seq
MIRT2070003	hsa-miR-1289	CLIP-seq
MIRT2070004	hsa-miR-1298	CLIP-seq
MIRT2070005	hsa-miR-1343	CLIP-seq
MIRT2070006	hsa-miR-1976	CLIP-seq
MIRT2070007	hsa-miR-27a	CLIP-seq
MIRT2070008	hsa-miR-27b	CLIP-seq
MIRT2070009	hsa-miR-2861	CLIP-seq
MIRT2070010	hsa-miR-3121-5p	CLIP-seq
MIRT2070011	hsa-miR-3124-3p	CLIP-seq
MIRT2070012	hsa-miR-3190	CLIP-seq
MIRT2070013	hsa-miR-3198	CLIP-seq
MIRT2070014	hsa-miR-3202	CLIP-seq
MIRT2070015	hsa-miR-326	CLIP-seq
MIRT2070016	hsa-miR-328	CLIP-seq
MIRT2070017	hsa-miR-330-5p	CLIP-seq
MIRT2070018	hsa-miR-331-3p	CLIP-seq
MIRT2070019	hsa-miR-3609	CLIP-seq
MIRT2070020	hsa-miR-361-3p	CLIP-seq
MIRT2070021	hsa-miR-3616-3p	CLIP-seq
MIRT2070022	hsa-miR-3649	CLIP-seq
MIRT2070023	hsa-miR-3657	CLIP-seq
MIRT2070024	hsa-miR-3667-3p	CLIP-seq
MIRT2070025	hsa-miR-377	CLIP-seq
MIRT2070026	hsa-miR-3908	CLIP-seq
MIRT2070027	hsa-miR-3911	CLIP-seq
MIRT2070028	hsa-miR-3918	CLIP-seq
MIRT2070029	hsa-miR-3943	CLIP-seq
MIRT2070030	hsa-miR-4253	CLIP-seq
MIRT2070031	hsa-miR-4254	CLIP-seq
MIRT1238057	hsa-miR-4257	CLIP-seq
MIRT2070032	hsa-miR-4271	CLIP-seq
MIRT2070033	hsa-miR-4283	CLIP-seq
MIRT2070034	hsa-miR-4294	CLIP-seq
MIRT2070035	hsa-miR-4302	CLIP-seq
MIRT2070036	hsa-miR-4309	CLIP-seq
MIRT2070037	hsa-miR-4418	CLIP-seq
MIRT2070038	hsa-miR-4436b-5p	CLIP-seq
MIRT2070039	hsa-miR-4446-3p	CLIP-seq
MIRT2070040	hsa-miR-4476	CLIP-seq
MIRT2070041	hsa-miR-4481	CLIP-seq
MIRT2070042	hsa-miR-4512	CLIP-seq
MIRT2070043	hsa-miR-4520a-3p	CLIP-seq
MIRT2070044	hsa-miR-4533	CLIP-seq
MIRT2070045	hsa-miR-4649-3p	CLIP-seq
MIRT2070046	hsa-miR-466	CLIP-seq
MIRT2070047	hsa-miR-4660	CLIP-seq
MIRT2070048	hsa-miR-4669	CLIP-seq
MIRT2070049	hsa-miR-4670-3p	CLIP-seq
MIRT2070050	hsa-miR-4691-5p	CLIP-seq
MIRT2070051	hsa-miR-4711-3p	CLIP-seq
MIRT2070052	hsa-miR-4721	CLIP-seq
MIRT2070053	hsa-miR-4722-5p	CLIP-seq
MIRT2070054	hsa-miR-4723-5p	CLIP-seq
MIRT2070055	hsa-miR-4725-3p	CLIP-seq
MIRT2070056	hsa-miR-4745-5p	CLIP-seq
MIRT2070057	hsa-miR-4789-3p	CLIP-seq
MIRT2070058	hsa-miR-4797-5p	CLIP-seq
MIRT2070059	hsa-miR-506	CLIP-seq
MIRT2070060	hsa-miR-509-3-5p	CLIP-seq
MIRT2070061	hsa-miR-509-5p	CLIP-seq
MIRT2070062	hsa-miR-513a-5p	CLIP-seq
MIRT2070063	hsa-miR-520g	CLIP-seq
MIRT2070064	hsa-miR-548ah	CLIP-seq
MIRT2070065	hsa-miR-556-5p	CLIP-seq
MIRT2070066	hsa-miR-570	CLIP-seq
MIRT1238041	hsa-miR-579	CLIP-seq
MIRT2070067	hsa-miR-581	CLIP-seq
MIRT2070068	hsa-miR-592	CLIP-seq
MIRT2070069	hsa-miR-596	CLIP-seq
MIRT2070070	hsa-miR-599	CLIP-seq
MIRT2070071	hsa-miR-646	CLIP-seq
MIRT2070072	hsa-miR-648	CLIP-seq
MIRT2070073	hsa-miR-671-5p	CLIP-seq
MIRT2070074	hsa-miR-759	CLIP-seq
MIRT2070075	hsa-miR-873	CLIP-seq
MIRT2070076	hsa-miR-935	CLIP-seq
MIRT2070077	hsa-miR-939	CLIP-seq
MIRT2297292	hsa-miR-1228	CLIP-seq
MIRT1238045	hsa-miR-1299	CLIP-seq
MIRT2297293	hsa-miR-1909	CLIP-seq
MIRT2070014	hsa-miR-3202	CLIP-seq
MIRT2070025	hsa-miR-377	CLIP-seq
MIRT1238054	hsa-miR-3909	CLIP-seq
MIRT2070037	hsa-miR-4418	CLIP-seq
MIRT2070044	hsa-miR-4533	CLIP-seq
MIRT2297294	hsa-miR-4690-3p	CLIP-seq
MIRT2070060	hsa-miR-509-3-5p	CLIP-seq
MIRT2070061	hsa-miR-509-5p	CLIP-seq
MIRT1238068	hsa-miR-875-3p	CLIP-seq
MIRT2392585	hsa-miR-425	CLIP-seq
MIRT2456572	hsa-miR-204	CLIP-seq
MIRT2456573	hsa-miR-211	CLIP-seq
MIRT2456574	hsa-miR-4707-5p	CLIP-seq
MIRT2456575	hsa-miR-4755-5p	CLIP-seq
MIRT2456576	hsa-miR-623	CLIP-seq
MIRT1238042	hsa-miR-670	CLIP-seq

Show/Hide all(29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	TAS
GO:0005515	Function	Protein binding	IPI	10852826, 19136012, 25225333, 25416956, 26275350
GO:0005521	Function	Lamin binding	IDA	10852826
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	NAS	9369526
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005882	Component	Intermediate filament	TAS	7527055
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0005912	Component	Adherens junction	IBA	21873635
GO:0007043	Process	Cell-cell junction assembly	IBA	21873635
GO:0007155	Process	Cell adhesion	NAS	10852826
GO:0007165	Process	Signal transduction	NAS	7527055
GO:0010628	Process	Positive regulation of gene expression	IMP	25225333
GO:0019215	Function	Intermediate filament binding	NAS	10852826
GO:0030057	Component	Desmosome	NAS	7527055
GO:0030280	Function	Structural constituent of skin epidermis	NAS	7527055
GO:0031424	Process	Keratinization	TAS
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0045110	Process	Intermediate filament bundle assembly	IBA	21873635
GO:0045110	Process	Intermediate filament bundle assembly	IDA	10852826
GO:0045296	Function	Cadherin binding	IBA	21873635
GO:0070268	Process	Cornification	TAS
GO:0098609	Process	Cell-cell adhesion	IBA	21873635
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS
GO:1902373	Process	Negative regulation of mRNA catabolic process	IMP	25225333
GO:1990124	Component	Messenger ribonucleoprotein complex	IDA	25225333

MIM	HGNC	e!Ensembl
601975	9023	ENSG00000081277

Protein

UniProt ID

Q13835

Protein name

Plakophilin-1 (Band 6 protein) (B6P)

Protein function

A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (PubMed:23444369). Plays a role in desmosome protein expression regulation and localization to the desmosomal plaque, thereby maintainin

PDB

1XM9

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00514	Arm	276 → 316	Armadillo/beta-catenin-like repeat	Repeat

Sequence

MNHSPLKTALAYECFQDQDNSTLALPSDQKMKTGTSGRQRVQEQVMMTVKRQKSKSSQSS
TLSHSNRGSMYDGLADNYNYGTTSRSSYYSKFQAGNGSWGYPIYNGTLKREPDNRRFSSY
SQMENWSRHYPRGSCNTTGAGSDICFMQKIKASRSEPDLYCDPRGTLRKGTLGSKGQKTT
QNRYSFYSTCSGQKAIKKCPVRPPSCASKQDPVYIPPISCNKDLSFGHSRASSKICSEDI
ECSGLTIPKAVQYLSSQDEKYQAIGAYYIQHTCFQDESAKQQVYQLGGICKLVDLLRSPN
QNVQQAAAGALRNLVFRSTTNKLETRRQNGIREAVSLLRRTGNAEIQKQLTGLLWNLSST
DELKEELIADALPVLADRVIIPFSGWCDGNSNMSREVVDPEVFFNATGCLRKRLGMRELL
ALVPQRATSSRVNLSSADAGRQTMRNYSGLIDSLMAYVQNCVAASRCDDKSVENCMCVLH
NLSYRLDAEVPTRYRQLEYNARNAYTEKSSTGCFSNKSDKMMNNNYDCPLPEEETNPKGS
GWLYHSDAIRTYLNLMGKSKKDATLEACAGALQNLTASKGLMSSGMSQLIGLKEKGLPQI
ARLLQSGNSDVVRSGASLLSNMSRHPLLHRVMGNQVFPEVTRLLTSHTGNTSNSEDILSS
ACYTVRNLMASQPQLAKQYFSSSMLNNIINLCRSSASPKAAEAARLLLSDMWSSKELQGV
LRQQGFDRNMLGTLAGANSLRNFTSRF

Sequence length

747

Interactions

View interactions

	Reactome
			Apoptotic cleavage of cell adhesion proteins Neutrophil degranulation Keratinization Formation of the cornified envelope

Associated diseases

Show/Hide Causal Diseases (3)

Causal
Disease name	Disease term	dbSNP ID	References
Ectodermal dysplasia	Ectodermal Dysplasia, Ectodermal dysplasia/ skin fragility syndrome, Ectodermal dysplasia-skin fragility syndrome	rs74315309, rs121908116, rs1558814967, rs121908450, rs121908452, rs121908453, rs797044435, rs121908454, rs121908455, rs121908456, rs797044436, rs797044437, rs137853324, rs137853325, rs137853326, rs137853327, rs137853328, rs137853329, rs1569556603, rs2147483647, rs137853330, rs28933100, rs121913665, rs387907197, rs386134238, rs386134240, rs782540538, rs398122913, rs398122377, rs179363867, rs1565766888, rs747806672, rs879255553, rs886039564, rs886041005, rs766500689, rs886041411, rs782178147, rs1057519508, rs1057524917, rs139455627, rs1060499610, rs1553445945, rs1553448320, rs557166582, rs1569151872, rs1555916009, rs1566591076, rs1566591086, rs1566591082, rs1558814135, rs773885029, rs1590674994, rs1575653629, rs1575647025, rs781890406, rs749688157	24073657, 19945625, 22309335
Hypotrichosis	Hypotrichosis	rs121434306, rs121434307, rs121434308, rs121434309, rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs267606659, rs2147483647, rs559648418, rs121917819, rs121917820, rs387906382, rs267606867, rs267606868, rs267606869, rs201868115, rs587776925, rs587777527, rs587777545, rs766783183, rs879255262, rs201249971, rs768448663, rs1566212378, rs1249530918, rs1260995701, rs1569039353, rs1827030121
Palmoplantar keratoderma	Keratoderma, Palmoplantar	rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951, rs397515640, rs397515641, rs142859678, rs797044479, rs577442939, rs672601344, rs568609861, rs1057518846, rs1182196436, rs1567037561

Show/Hide Unknown Diseases (4)

Unknown
Disease name	Disease term	dbSNP ID	References
Alopecia	Alopecia
Immunologic deficiency syndromes	Immunologic Deficiency Syndromes
Liver carcinoma	Liver carcinoma		21472284
Panic disorder	Panic Disorder		19165232

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