PKP3 Gene
protein-coding GIFtS: 56
GCID: GC11P000394
|
|
plakophilin 3
| |
Aliases
for PKP3 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Plakophilin 31 2 | | Plakophilin 3b2 | | Plakophilin-31 |
Export aliases for PKP3 gene to outside databasesPrevious GC identifers: GC11U990201 GC11M000795 GC11P000384 GC11P000354 GC11P000209 |
Summaries
for PKP3 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for PKP3:
This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins containnumerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins tointermediate filaments in the cytoskeleton. This protein may act in cellular desmosome-dependent adhesion andsignaling pathways. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: PKP3_HUMAN, Q9Y446Function: May play a role in junctional plaques
Gene Wiki entry for PKP3
|
Genomic Views
for PKP3 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000011.9 NC_018922.1 NT_009237.18
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the PKP3 gene promoter:
E2F-4 E2F-3a AREB6 E2F-5 E2F-1 E2F E2F-2 GATA-2
Other transcription factors
Search SABiosciences Chromatin IP Primers for PKP3
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PKP3 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 11p15 Ensembl cytogenetic band: 11p15.5 HGNC cytogenetic band: 11p15PKP3 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 11 GeneLoc Exon Structure GeneLoc location for GC11P000394: view genomic region
(about GC identifiers)
Start:
|
392,614 bp from pter |
End:
|
404,908 bp from pter |
Size:
|
12,295 bases |
Orientation:
|
plus strand |
|
Proteins
for PKP3 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: PKP3_HUMAN, Q9Y446 (See
protein sequence)Recommended Name: Plakophilin-3 Size: 797 amino acids; 87082 Da
Subcellular location: Nucleus. Cell junction, desmosome. Note=Nuclear and associated with desmosomes
Secondary accessions: Q53EX8Explore the universe of human proteins at neXtProt for PKP3: NX_Q9Y446
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9Y446
PKP3 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_009114.1
ENSEMBL proteins: ENSP00000434517 ENSP00000435383 ENSP00000435522 ENSP00000434110 ENSP00000331678 ENSP00000435478 ENSP00000436847
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
PKP3 for ontologies About GeneDecksing
PKP3 Antibody Products:
Assay Products for PKP3: |
Protein
Domains /
Families
for PKP3 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
PKP3 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9Y446ProtoNet protein and cluster: Q9Y446 1 Blocks protein family: IPB000225 Armadillo repeat
UniProtKB/Swiss-Prot: PKP3_HUMAN, Q9Y446Similarity: Belongs to the beta-catenin familySimilarity: Contains 8 ARM repeats |
Function
for PKP3 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: PKP3_HUMAN, Q9Y446Function: May play a role in junctional plaques Genatlas biochemistry entry for PKP3:plakophilin 3,component of the plaque protein of desmosomes of most simple and almost all stratified epithelia with theexception of hepatocytes and hepatocellular carcinoma cell,homologous to Drosophila Armadillo segment polarity gene
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PKP3
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKP3 |
3 GenomeRNAi human phenotypes for PKP3:
Animal Models:
Mouse knock-out Pkp3tm1.1Fvr for PKP3
5 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Pkp3):
PKP3 for phenotypes About GeneDecksing
|
Pathways & Interactions
for PKP3 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PKP3
STRING Interaction
Network Preview (showing 5 interactants - click image to see 14)
5/631 Interacting proteins for PKP3 (Q9Y4462, 3 ENSP000003316784) via UniProtKB, MINT, STRING, and/or I2D (see all 631)About this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0007155 | cell adhesion |
IEA | -- |
PKP3 for ontologies About GeneDecksing
|
Drugs & Compounds
for PKP3 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for PKP3
Search CenterWatch for drugs/clinical trials and news about PKP3
|
Transcripts
for PKP3 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for PKP3 gene: NM_007183.2 Unigene Cluster for PKP3: Plakophilin 3 Hs.534395 [show with all ESTs]Unigene Representative Sequence: NM_00718311 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000534401 ENST00000533249 ENST00000527442 ENST00000528036 ENST00000331563(uc021qbk.1 uc001lpc.3)
ENST00000533069 ENST00000531857 ENST00000530695 ENST00000524646 ENST00000526971
ENST00000525642
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PKP3 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PKP3
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: PKP3 (NM_007183) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PKP3 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PKP3 |
Additional cDNA sequence: AF053719.1 AK025067.1 AK223511.1 BC000081.2 FN421477.1 Z98265.1 10 DOTS entries: DT.311176 DT.91730058 DT.97844198 DT.100791526 DT.120711083 DT.100791527 DT.101967967 DT.92427433 DT.97826501 DT.100805286 24/182 AceView cDNA sequences (see all 182): AI869046 AI202573 BE999971 BX102928 BQ691847 AI337421 BM998324 BU162874 BU197168 R74498 AW274145 AI346781 AI538462 BQ690079 CA454544 BQ631370 BM781805 BQ688254 BF591265 AW009869 BG676535 BU621340 BQ689045 AF053719
GeneLoc Exon Structure
5/11 Alternative Splicing Database (ASD) splice patterns (SP) for PKP3 (see all 11) About this scheme
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | ^ |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | - | | - | | - | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | - | | - | | - | | - | | - | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | - | | - | | - | | - | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 16 | ^ | 17a | · | 17b |
|---|
|
| SP1: | | | | | | | |
| SP2: | | | | | | | |
| SP3: | | | | | | | |
| SP4: | | | | | | | |
| SP5: | | | | | | |
ECgene alternative splicing isoforms for PKP3
|
Expression
for PKP3 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| PKP3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AACAGTCAAA
About this image
See PKP3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PKP3
SOURCE GeneReport for Unigene cluster: Hs.534395
UniProtKB/Swiss-Prot: PKP3_HUMAN, Q9Y446Tissue specificity: Found in desmosomes of most simple and stratified epithelia. Not found in foreskin fibroblasts andvarious sarcoma-derived cell lines. Beside dendritic reticular cells of lymphatic follicles not found innon-epithelial desmosome-bearing tissues
SABiosciences Expression via Pathway-Focused PCR Array including PKP3:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PKP3
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKP3 |
Orthologs
for PKP3 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for PKP3 gene from 5/15 species (see all 15) About this table
ENSEMBL Gene Tree for PKP3 (if available)
TreeFam Gene Tree for PKP3 (if available) |
Paralogs
for PKP3 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for PKP3 gene
- PKP22 CTNND12 PKP12 CTNND22 ARVCF2 PKP42
1 SIMAP similar gene for PKP3 using alignment to 8 protein entries: PKP3_HUMAN (see all proteins):PKP1
PKP3 for paralogs About GeneDecksing
|
Genomic Variants
for PKP3 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 11 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for PKP3 (392614 - 404908 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 6 variations for PKP3
4 CNVs: 29882 29880 29883 65830
2 Indels: 11526 24729 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PKP3 |
|
Disorders
/ Diseases
for PKP3 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
PKP3 for disorders About GeneDecksing
OMIM gene information: 605561
OMIM disorders: --
8  diseases for PKP3: About MalaCardsprostate adenocarcinoma hepatocellular carcinoma gastric cancer lung cancer
adenocarcinoma sarcoma prostatitis carcinoma
1 Novoseek disease relationship for PKP3 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| cancer |
2.99 |
2 |
16103059 (1), 18801625 (1) |
Human Genome Epidemiology (HuGE) Navigator: PKP3 (3 documents)
Export disorders for PKP3 gene to outside databases
|
Publications
for PKP3 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for PKP3 gene, integrated from 9 sources (see all 33):
(articles sorted by number of sources associating them with PKP3) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Plakophilin 3 -- a novel cell-type-specific desmosomal plaque protein. (PubMed id 10374265)1, 2, 3, 9 Schmidt A....Franke W.W. (1999)
- Plakophilin-3, a novel armadillo-like protein present in nuclei and desmosomes of epithelial cells. (PubMed id 10381383)1, 2, 9 Bonne S.... van Roy F. (1999)
- A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- The transcription factor ZEB1 (deltaEF1) represses Plakophilin 3 during human cancer progression. (PubMed id 17391671)1, 9 Aigner K....Eger A. (2007)
- Immunohistochemical localization of plakophilins (PKP1, PKP2, PKP3, and p0071) in primary oropharyngeal tumors: correlation with clinical parameters. (PubMed id 12827610)1, 9 Papagerakis S....Forest N. (2003)
- Bioinformatics approach to mRNA markers discovery for detection of circulating tumor cells in patients with gastrointestinal cancer. (PubMed id 18801625)1, 9 Valladares-Ayerbes M....Anton-Aparicio L.M. (2008)
- Interaction of plakophilins with desmoplakin and intermediate filament proteins: an in vitro analysis. (PubMed id 10852826)1, 9 Hofmann I....Herrmann H. (2000)
- Common polymorphisms in the PKP3-SIGIRR-TMEM16J gene r egion are associated with susceptibility to tuberculosis. (PubMed id 22223854)1 Horne D.J....Hawn T.R. (2012)
- Plakophilin3 loss leads to an increase in PRL3 levels promoting K8 dephosphorylation, which is required for transformation and metasta sis. (PubMed id 22701666)1 Khapare N....Dalal S.N. (2012)
|
External Searches for PKP3 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing PKP3 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing PKP3 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing PKP3 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for PKP3 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for PKP3 gene:
Search GeneIP for patents involving PKP3
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for PKP3 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKP3 |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PKP3 |
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