ENSG00000081277


Homo sapiens

Features
Gene ID: ENSG00000081277
  
Biological name :PKP1
  
Synonyms : PKP1 / plakophilin 1 / Q13835
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: q32.1
Gene start: 201283452
Gene end: 201332993
  
Corresponding Affymetrix probe sets: 205724_at (Human Genome U133 Plus 2.0 Array)   221854_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000263946
Ensembl peptide - ENSP00000356293
Ensembl peptide - ENSP00000295597
NCBI entrez gene - 5317     See in Manteia.
OMIM - 601975
RefSeq - NM_000299
RefSeq - NM_001005337
RefSeq Peptide - NP_000290
RefSeq Peptide - NP_001005337
swissprot - A0A024R952
swissprot - Q13835
Ensembl - ENSG00000081277
  
Related genetic diseases (OMIM): 604536 - Ectodermal dysplasia/skin fragility syndrome, 604536
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pkp1aENSDARG00000090598Danio rerio
 pkp1bENSDARG00000052705Danio rerio
 PKP1ENSGALG00000000299Gallus gallus
 Pkp1ENSMUSG00000026413Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PKP2 / Q99959 / plakophilin 2ENSG0000005729431
PKP3 / Q9Y446 / plakophilin 3ENSG0000018436329
CTNND2 / Q9UQB3 / catenin delta 2ENSG0000016986226
CTNND1 / O60716 / catenin delta 1ENSG0000019856125
PKP4 / Q99569 / plakophilin 4ENSG0000014428325
ARVCF / O00192 / ARVCF, delta catenin family memberENSG0000009988925


Protein motifs (from Interpro)
Interpro ID Name
 IPR000225  Armadillo
 IPR011989  Armadillo-like helical
 IPR016024  Armadillo-type fold
 IPR028432  Plakophilin-1
 IPR028435  Plakophilin/Delta catenin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007155 cell adhesion NAS
 biological_processGO:0007165 signal transduction NAS
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0010628 positive regulation of gene expression IMP
 biological_processGO:0031424 keratinization TAS
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0045110 intermediate filament bundle assembly IDA
 biological_processGO:0070268 cornification TAS
 biological_processGO:0098609 cell-cell adhesion IEA
 biological_processGO:1902373 negative regulation of mRNA catabolic process IMP
 cellular_componentGO:0001533 cornified envelope TAS
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005882 intermediate filament TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030057 desmosome NAS
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0101003 ficolin-1-rich granule membrane TAS
 cellular_componentGO:1990124 messenger ribonucleoprotein complex IDA
 molecular_functionGO:0004871 obsolete signal transducer activity TAS
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005521 lamin binding IDA
 molecular_functionGO:0019215 intermediate filament binding NAS
 molecular_functionGO:0030280 structural constituent of epidermis NAS


Pathways (from Reactome)
Pathway description
Apoptotic cleavage of cell adhesion proteins
Neutrophil degranulation
Keratinization
Formation of the cornified envelope


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000221 Furrowed tongue "Accentuation of the grooves on the dorsal surface of the tongue." [pmid:19125428]
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 HP:0000498 Blepharitis "Inflammation of the eyelids." [HPO:curators]
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 HP:0000534 Abnormality of the eyebrow "An abnormality of the `eyebrow` (FMA:54237)." [HPO:probinson]
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 HP:0000561 Absent eyelashes "Lack of eyelashes." [HPO:curators]
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 HP:0000958 Dry skin 
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 HP:0000968 Ectodermal dysplasia 
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 HP:0000982 Palmoplantar keratoderma 
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 HP:0000989 Pruritus "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators]
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 HP:0001006 Hypotrichosis "Reduced or lacking hair growth." [HPO:curators]
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 HP:0001030 Fragile skin 
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 HP:0001508 Failure to thrive 
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 HP:0001596 Alopecia "Loss of hair from the head or body." [HPO:curators]
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 HP:0001597 Abnormality of the nails "Abnormality of the fingernails or toenails." [HPO:curators]
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 HP:0002028 Chronic diarrhea 
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 HP:0002224 Woolly hair 
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 HP:0002721 Immunodeficiency 
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 HP:0010783 Erythema "Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin." [HPO:probinson]
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 HP:0200037 skin vesicle "A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point." [HPO:SKOEHLER]
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 HP:0200042 skin ulcer "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:SKOEHLER]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000164305 CASP3 / P42574 / caspase 3  / reaction






 

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