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PKP1 (plakophilin 1)

Identity

Alias_namesplakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
Alias_symbol (synonym)B6P
HGNC (Hugo) PKP1
LocusID (NCBI) 5317
Atlas_Id 41729
Location 1q32.1  [Link to chromosome band 1q32]
Location_base_pair Starts at 201252580 and ends at 201302121 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
LAMA3 (18q11.2) / PKP1 (1q32.1)PKP1 (1q32.1) / MNT (17p13.3)PKP1 (1q32.1) / PKP1 (1q32.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PKP1   9023
Cards
Entrez_Gene (NCBI)PKP1  5317  plakophilin 1
AliasesB6P
GeneCards (Weizmann)PKP1
Ensembl hg19 (Hinxton)ENSG00000081277 [Gene_View]  chr1:201252580-201302121 [Contig_View]  PKP1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000081277 [Gene_View]  chr1:201252580-201302121 [Contig_View]  PKP1 [Vega]
ICGC DataPortalENSG00000081277
TCGA cBioPortalPKP1
AceView (NCBI)PKP1
Genatlas (Paris)PKP1
WikiGenes5317
SOURCE (Princeton)PKP1
Genetics Home Reference (NIH)PKP1
Genomic and cartography
GoldenPath hg19 (UCSC)PKP1  -     chr1:201252580-201302121 +  1q32.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PKP1  -     1q32.1   [Description]    (hg38-Dec_2013)
EnsemblPKP1 - 1q32.1 [CytoView hg19]  PKP1 - 1q32.1 [CytoView hg38]
Mapping of homologs : NCBIPKP1 [Mapview hg19]  PKP1 [Mapview hg38]
OMIM601975   604536   
Gene and transcription
Genbank (Entrez)AK123555 AK299473 AK315291 AK316131 BC040253
RefSeq transcript (Entrez)NM_000299 NM_001005337
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_023337 NT_004487 NW_004929293
Consensus coding sequences : CCDS (NCBI)PKP1
Cluster EST : UnigeneHs.497350 [ NCBI ]
CGAP (NCI)Hs.497350
Alternative Splicing GalleryENSG00000081277
Gene ExpressionPKP1 [ NCBI-GEO ]   PKP1 [ EBI - ARRAY_EXPRESS ]   PKP1 [ SEEK ]   PKP1 [ MEM ]
Gene Expression Viewer (FireBrowse)PKP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5317
GTEX Portal (Tissue expression)PKP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13835   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13835  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13835
Splice isoforms : SwissVarQ13835
PhosPhoSitePlusQ13835
Domaine pattern : Prosite (Expaxy)ARM_REPEAT (PS50176)   
Domains : Interpro (EBI)ARM-like    ARM-type_fold    Armadillo    Plakophilin-1    Plakophilin/d_Catenin   
Domain families : Pfam (Sanger)Arm (PF00514)   
Domain families : Pfam (NCBI)pfam00514   
Domain families : Smart (EMBL)ARM (SM00185)  
Conserved Domain (NCBI)PKP1
DMDM Disease mutations5317
Blocks (Seattle)PKP1
PDB (SRS)1XM9   
PDB (PDBSum)1XM9   
PDB (IMB)1XM9   
PDB (RSDB)1XM9   
Structural Biology KnowledgeBase1XM9   
SCOP (Structural Classification of Proteins)1XM9   
CATH (Classification of proteins structures)1XM9   
SuperfamilyQ13835
Human Protein AtlasENSG00000081277
Peptide AtlasQ13835
HPRD03579
IPIIPI00071509   IPI00218528   
Protein Interaction databases
DIP (DOE-UCLA)Q13835
IntAct (EBI)Q13835
FunCoupENSG00000081277
BioGRIDPKP1
STRING (EMBL)PKP1
ZODIACPKP1
Ontologies - Pathways
QuickGOQ13835
Ontology : AmiGOsignal transducer activity  protein binding  lamin binding  nucleus  nucleus  nucleoplasm  intermediate filament  plasma membrane  plasma membrane  cell adhesion  signal transduction  multicellular organism development  single organismal cell-cell adhesion  intermediate filament binding  desmosome  structural constituent of epidermis  intracellular membrane-bounded organelle  intermediate filament bundle assembly  extracellular exosome  
Ontology : EGO-EBIsignal transducer activity  protein binding  lamin binding  nucleus  nucleus  nucleoplasm  intermediate filament  plasma membrane  plasma membrane  cell adhesion  signal transduction  multicellular organism development  single organismal cell-cell adhesion  intermediate filament binding  desmosome  structural constituent of epidermis  intracellular membrane-bounded organelle  intermediate filament bundle assembly  extracellular exosome  
NDEx NetworkPKP1
Atlas of Cancer Signalling NetworkPKP1
Wikipedia pathwaysPKP1
Orthology - Evolution
OrthoDB5317
GeneTree (enSembl)ENSG00000081277
Phylogenetic Trees/Animal Genes : TreeFamPKP1
HOVERGENQ13835
HOGENOMQ13835
Homologs : HomoloGenePKP1
Homology/Alignments : Family Browser (UCSC)PKP1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPKP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PKP1
dbVarPKP1
ClinVarPKP1
1000_GenomesPKP1 
Exome Variant ServerPKP1
ExAC (Exome Aggregation Consortium)PKP1 (select the gene name)
Genetic variants : HAPMAP5317
Genomic Variants (DGV)PKP1 [DGVbeta]
DECIPHER (Syndromes)1:201252580-201302121  ENSG00000081277
CONAN: Copy Number AnalysisPKP1 
Mutations
ICGC Data PortalPKP1 
TCGA Data PortalPKP1 
Broad Tumor PortalPKP1
OASIS PortalPKP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPKP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPKP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PKP1
DgiDB (Drug Gene Interaction Database)PKP1
DoCM (Curated mutations)PKP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PKP1 (select a term)
intoGenPKP1
Cancer3DPKP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601975    604536   
Orphanet17232   
MedgenPKP1
Genetic Testing Registry PKP1
NextProtQ13835 [Medical]
TSGene5317
GENETestsPKP1
Huge Navigator PKP1 [HugePedia]
snp3D : Map Gene to Disease5317
BioCentury BCIQPKP1
ClinGenPKP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5317
Chemical/Pharm GKB GenePA33356
Clinical trialPKP1
Miscellaneous
canSAR (ICR)PKP1 (select the gene name)
Probes
Litterature
PubMed55 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePKP1
EVEXPKP1
GoPubMedPKP1
iHOPPKP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:47:38 CET 2016

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