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). |
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Gene in Ethanol Study Datasets |
Gene Information | | 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. |
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Gene Refseq Sequence Annotation |
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Gene Ontology (GO) Annotation |
GO ID | GO Term | Category | Evidence (PubMed) | |
GO:0030057 | desmosome | Cellular Component | NAS (7527055) | |
GO:0005634 | nucleus | Cellular Component | NAS (9369526) | |
GO:0005737 | cytoplasm | Cellular Component | IEA | |
GO:0005856 | cytoskeleton | Cellular Component | IEA | |
GO:0005882 | intermediate filament | Cellular Component | TAS (7527055) | |
GO:0030054 | cell junction | Cellular Component | IEA | |
GO:0004871 | signal transducer activity | Molecular Function | TAS (7527055|9326952) | |
GO:0019215 | intermediate filament binding | Molecular Function | NAS (10852826) | |
GO:0030280 | structural constituent of epidermis | Molecular Function | NAS (7527055) | |
GO:0005515 | protein binding | Molecular Function | IEA | |
GO:0007275 | multicellular organismal development | Biological Process | IEA | |
GO:0007165 | signal transduction | Biological Process | NAS (7527055) | |
GO:0007155 | cell adhesion | Biological Process | NAS (10852826) | |
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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 |