Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PKP1 (plakophilin 1)

Identity

Alias (NCBI)B6P
EDSFS
HGNC (Hugo) PKP1
HGNC Alias symbB6P
HGNC Alias nameectodermal dysplasia/skin fragility syndrome
HGNC Previous nameplakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
LocusID (NCBI) 5317
Atlas_Id 41729
Location 1q32.1  [Link to chromosome band 1q32]
Location_base_pair Starts at 201283506 and ends at 201332989 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    plakophilin 1
AliasesB6P; EDSFS
GeneCards (Weizmann)PKP1
Ensembl hg19 (Hinxton)ENSG00000081277 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000081277 [Gene_View]  ENSG00000081277 [Sequence]  chr1:201283506-201332989 [Contig_View]  PKP1 [Vega]
ICGC DataPortalENSG00000081277
TCGA cBioPortalPKP1
AceView (NCBI)PKP1
Genatlas (Paris)PKP1
SOURCE (Princeton)PKP1
Genetics Home Reference (NIH)PKP1
Genomic and cartography
GoldenPath hg38 (UCSC)PKP1  -     chr1:201283506-201332989 +  1q32.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PKP1  -     1q32.1   [Description]    (hg19-Feb_2009)
GoldenPathPKP1 - 1q32.1 [CytoView hg19]  PKP1 - 1q32.1 [CytoView hg38]
ImmunoBaseENSG00000081277
Genome Data Viewer NCBIPKP1 [Mapview hg19]  
OMIM601975   604536   
Gene and transcription
Genbank (Entrez)AK123555 AK299473 AK315291 AK316131 BC040253
RefSeq transcript (Entrez)NM_000299 NM_001005337
Consensus coding sequences : CCDS (NCBI)PKP1
Gene ExpressionPKP1 [ NCBI-GEO ]   PKP1 [ EBI - ARRAY_EXPRESS ]   PKP1 [ SEEK ]   PKP1 [ MEM ]
Gene Expression Viewer (FireBrowse)PKP1 [ Firebrowse - Broad ]
GenevisibleExpression of PKP1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5317
GTEX Portal (Tissue expression)PKP1
Human Protein AtlasENSG00000081277-PKP1 [pathology]   [cell]   [tissue]
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
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
PDB (RSDB)1XM9   
PDB Europe1XM9   
PDB (PDBSum)1XM9   
PDB (IMB)1XM9   
Structural Biology KnowledgeBase1XM9   
SCOP (Structural Classification of Proteins)1XM9   
CATH (Classification of proteins structures)1XM9   
SuperfamilyQ13835
AlphaFold pdb e-kbQ13835   
Human Protein Atlas [tissue]ENSG00000081277-PKP1 [tissue]
HPRD03579
Protein Interaction databases
DIP (DOE-UCLA)Q13835
IntAct (EBI)Q13835
BioGRIDPKP1
STRING (EMBL)PKP1
ZODIACPKP1
Ontologies - Pathways
QuickGOQ13835
Ontology : AmiGOcornified envelope  protein binding  lamin binding  nucleus  nucleus  nucleoplasm  cytoplasm  intermediate filament  plasma membrane  plasma membrane  plasma membrane  adherens junction  cell-cell junction assembly  cell adhesion  signal transduction  positive regulation of gene expression  intermediate filament binding  desmosome  structural constituent of skin epidermis  intermediate filament bundle assembly  intermediate filament bundle assembly  cadherin binding  cell-cell adhesion  ficolin-1-rich granule membrane  negative regulation of mRNA catabolic process  messenger ribonucleoprotein complex  
Ontology : EGO-EBIcornified envelope  protein binding  lamin binding  nucleus  nucleus  nucleoplasm  cytoplasm  intermediate filament  plasma membrane  plasma membrane  plasma membrane  adherens junction  cell-cell junction assembly  cell adhesion  signal transduction  positive regulation of gene expression  intermediate filament binding  desmosome  structural constituent of skin epidermis  intermediate filament bundle assembly  intermediate filament bundle assembly  cadherin binding  cell-cell adhesion  ficolin-1-rich granule membrane  negative regulation of mRNA catabolic process  messenger ribonucleoprotein complex  
NDEx NetworkPKP1
Atlas of Cancer Signalling NetworkPKP1
Wikipedia pathwaysPKP1
Orthology - Evolution
OrthoDB5317
GeneTree (enSembl)ENSG00000081277
Phylogenetic Trees/Animal Genes : TreeFamPKP1
Homologs : HomoloGenePKP1
Homology/Alignments : Family Browser (UCSC)PKP1
Gene fusions - Rearrangements
Fusion : QuiverPKP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPKP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PKP1
dbVarPKP1
ClinVarPKP1
MonarchPKP1
1000_GenomesPKP1 
Exome Variant ServerPKP1
GNOMAD BrowserENSG00000081277
Varsome BrowserPKP1
ACMGPKP1 variants
VarityQ13835
Genomic Variants (DGV)PKP1 [DGVbeta]
DECIPHERPKP1 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DPKP1
Mutations and Diseases : HGMDPKP1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPKP1
DgiDB (Drug Gene Interaction Database)PKP1
DoCM (Curated mutations)PKP1
CIViC (Clinical Interpretations of Variants in Cancer)PKP1
Cancer3DPKP1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601975    604536   
Orphanet17232   
DisGeNETPKP1
MedgenPKP1
Genetic Testing Registry PKP1
NextProtQ13835 [Medical]
GENETestsPKP1
Target ValidationPKP1
Huge Navigator PKP1 [HugePedia]
ClinGenPKP1
Clinical trials, drugs, therapy
MyCancerGenomePKP1
Protein Interactions : CTDPKP1
Pharm GKB GenePA33356
PharosQ13835
Clinical trialPKP1
Miscellaneous
canSAR (ICR)PKP1
HarmonizomePKP1
ARCHS4PKP1
DataMed IndexPKP1
Probes
Litterature
PubMed81 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPKP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 20 12:52:28 CET 2022

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