Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PKP1 (plakophilin 1)

Identity

Other namesB6P
HGNC (Hugo) PKP1
LocusID (NCBI) 5317
Location 1q32.1
Location_base_pair Starts at 201252580 and ends at 201302121 bp from pter ( according to hg19-Feb_2009)
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
GeneCards (Weizmann)PKP1
Ensembl (Hinxton)ENSG00000081277 [Gene_View]  chr1:201252580-201302121 [Contig_View]  PKP1 [Vega]
ICGC DataPortalENSG00000081277
cBioPortalPKP1
AceView (NCBI)PKP1
Genatlas (Paris)PKP1
WikiGenes5317
SOURCE (Princeton)NM_000299 NM_001005337
Genomic and cartography
GoldenPath (UCSC)PKP1  -  1q32.1   chr1:201252580-201302121 +  1q32.1   [Description]    (hg19-Feb_2009)
EnsemblPKP1 - 1q32.1 [CytoView]
Mapping of homologs : NCBIPKP1 [Mapview]
OMIM601975   604536   
Gene and transcription
Genbank (Entrez)AK123555 AK299473 AK315291 AK316131 BC040253
RefSeq transcript (Entrez)NM_000299 NM_001005337
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NG_023337 NT_004487 NW_001838533 NW_004929293
Consensus coding sequences : CCDS (NCBI)PKP1
Cluster EST : UnigeneHs.497350 [ NCBI ]
CGAP (NCI)Hs.497350
Alternative Splicing : Fast-db (Paris)GSHG0001322
Alternative Splicing GalleryENSG00000081277
Gene ExpressionPKP1 [ NCBI-GEO ]     PKP1 [ SEEK ]   PKP1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13835 (Uniprot)
NextProtQ13835  [Medical]
With graphics : InterProQ13835
Splice isoforms : SwissVarQ13835 (Swissvar)
Domaine pattern : Prosite (Expaxy)ARM_REPEAT (PS50176)   
Domains : Interpro (EBI)ARM-like [organisation]   ARM-type_fold [organisation]   Armadillo [organisation]   Plakophilin-1 [organisation]   Plakophilin/d_Catenin [organisation]  
Related proteins : CluSTrQ13835
Domain families : Pfam (Sanger)Arm (PF00514)   
Domain families : Pfam (NCBI)pfam00514   
Domain families : Smart (EMBL)ARM (SM00185)  
DMDM Disease mutations5317
Blocks (Seattle)Q13835
PDB (SRS)1XM9   
PDB (PDBSum)1XM9   
PDB (IMB)1XM9   
PDB (RSDB)1XM9   
Human Protein AtlasENSG00000081277 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ13835
HPRD03579
IPIIPI00071509   IPI00218528   
Protein Interaction databases
DIP (DOE-UCLA)Q13835
IntAct (EBI)Q13835
FunCoupENSG00000081277
BioGRIDPKP1
InParanoidQ13835
Interologous Interaction database Q13835
IntegromeDBPKP1
STRING (EMBL)PKP1
Ontologies - Pathways
Ontology : AmiGOsignal transducer activity  protein binding  lamin binding  nucleus  nucleus  nucleolus  intermediate filament  plasma membrane  plasma membrane  apoptotic process  cellular component disassembly involved in execution phase of apoptosis  cell adhesion  signal transduction  multicellular organismal development  single organismal cell-cell adhesion  intermediate filament binding  desmosome  structural constituent of epidermis  intracellular membrane-bounded organelle  intermediate filament bundle assembly  extracellular vesicular exosome  
Ontology : EGO-EBIsignal transducer activity  protein binding  lamin binding  nucleus  nucleus  nucleolus  intermediate filament  plasma membrane  plasma membrane  apoptotic process  cellular component disassembly involved in execution phase of apoptosis  cell adhesion  signal transduction  multicellular organismal development  single organismal cell-cell adhesion  intermediate filament binding  desmosome  structural constituent of epidermis  intracellular membrane-bounded organelle  intermediate filament bundle assembly  extracellular vesicular exosome  
Protein Interaction DatabasePKP1
Wikipedia pathwaysPKP1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)PKP1
snp3D : Map Gene to Disease5317
SNP (GeneSNP Utah)PKP1
SNP : HGBasePKP1
Genetic variants : HAPMAPPKP1
Exome VariantPKP1
1000_GenomesPKP1 
ICGC programENSG00000081277 
Somatic Mutations in Cancer : COSMICPKP1 
CONAN: Copy Number AnalysisPKP1 
Mutations and Diseases : HGMDPKP1
Mutations and Diseases : intOGenPKP1
Genomic VariantsPKP1  PKP1 [DGVbeta]
dbVarPKP1
ClinVarPKP1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM601975    604536   
MedgenPKP1
GENETestsPKP1
Disease Genetic AssociationPKP1
Huge Navigator PKP1 [HugePedia]  PKP1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGenePKP1
Homology/Alignments : Family Browser (UCSC)PKP1
Phylogenetic Trees/Animal Genes : TreeFamPKP1
Chemical/Protein Interactions : CTD5317
Chemical/Pharm GKB GenePA33356
Clinical trialPKP1
Cancer Resource (Charite)ENSG00000081277
Other databases
Probes
Litterature
PubMed48 Pubmed reference(s) in Entrez
CoreMinePKP1
iHOPPKP1
OncoSearchPKP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 16:59:53 CEST 2014

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