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Gene Information
Gene ID:5317
Symbol:PKP1
Full Name:plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
Alias:B6P|MGC138829
Organism:Homo sapiens (Human)
Chromosome:1
Genetic Location:1q32
Physical Location:199519202-199568739 on NC_000001.9
Gene Type:protein-coding
Orthologs:This gene has no orthologs in other dataset(s).
Gene in Ethanol Study Datasets
Gene Information
Original ID1:PKP1
Dataset Information
Name:Literature Search
Method:Literature search
Summary:We search all human protein coding gene names and the keywords Alcohol or Ethanol or Alcoholism in the title or abstract of all PUBMED publications. For those gene name less than 3 characters or search result hits more than 100, we use the full name to search again and manually check the results to reduce false positive.
Gene Refseq Sequence Annotation
mRNAProteinReference assembly Genomic
NM_000299.2NP_000290.2NC_000001.9 range: 199519202..199568739
NM_001005337.1NP_001005337.1NC_000001.9 range: 199519202..199568739
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0030057desmosomeCellular ComponentNAS (7527055)
GO:0005634nucleusCellular ComponentNAS (9369526)
GO:0005737cytoplasmCellular ComponentIEA
GO:0005856cytoskeletonCellular ComponentIEA
GO:0005882intermediate filamentCellular ComponentTAS (7527055)
GO:0030054cell junctionCellular ComponentIEA
GO:0004871signal transducer activityMolecular FunctionTAS (7527055|9326952)
GO:0019215intermediate filament bindingMolecular FunctionNAS (10852826)
GO:0030280structural constituent of epidermisMolecular FunctionNAS (7527055)
GO:0005515protein bindingMolecular FunctionIEA
GO:0007275multicellular organismal developmentBiological ProcessIEA
GO:0007165signal transductionBiological ProcessNAS (7527055)
GO:0007155cell adhesionBiological ProcessNAS (10852826)
Other Database Cross Links
NCBI Entrez Gene:5317
HGNC:9023
Ensembl:ENSG00000081277
MIM:601975
HPRD:03579
HuGE Navigator:5317
dbSNP:PKP1
GeneCard:PKP1
AceView:PKP1