ENSMUSG00000026413


Mus musculus

Features
Gene ID: ENSMUSG00000026413
  
Biological name :Pkp1
  
Synonyms : P97350 / Pkp1 / Plakophilin-1
  
Possible biological names infered from orthology : Q13835
  
Species: Mus musculus
  
Chr. number: 1
Strand: -1
Band: E4
Gene start: 135871395
Gene end: 135919207
  
Corresponding Affymetrix probe sets: 10358124 (MoGene1.0st)   1449586_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000140883
Ensembl peptide - ENSMUSP00000027667
Ensembl peptide - ENSMUSP00000128418
NCBI entrez gene - 18772     See in Manteia.
MGI - MGI:1328359
RefSeq - NM_001313701
RefSeq - NM_019645
RefSeq Peptide - NP_001300630
RefSeq Peptide - NP_062619
swissprot - A0A087WS37
swissprot - P97350
Ensembl - ENSMUSG00000026413
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pkp1aENSDARG00000090598Danio rerio
 pkp1bENSDARG00000052705Danio rerio
 PKP1ENSGALG00000000299Gallus gallus
 PKP1ENSG00000081277Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Pkp2 / plakophilin 2 / Q99959*ENSMUSG0000004195731
Pkp3 / Q9QY23 / Plakophilin-3 / Q9Y446*ENSMUSG0000005406529
Ctnnd2 / catenin delta-2 isoform 2 / Q9UQB3* / catenin delta 2*ENSMUSG0000002224027
Pkp4 / Q68FH0 / plakophilin 4 / Q99569*ENSMUSG0000002699126
Arvcf / P98203 / Armadillo repeat protein deleted in velo-cardio-facial syndrome homolog / O00192* / ARVCF, delta catenin family member*ENSMUSG0000000032525
P30999 / Gm28635 / predicted gene 28635 / O60716* / CTNND1* / catenin delta 1*ENSMUSG0000010164525
Ctnnd1 / P30999 / Mus musculus catenin (cadherin associated protein), delta 1 (Ctnnd1), transcript variant 7, mRNA. / O60716* / catenin delta 1*ENSMUSG0000003410125


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 IEA
 biological_processGO:0010628 positive regulation of gene expression ISO
 biological_processGO:0045110 intermediate filament bundle assembly ISO
 biological_processGO:0098609 cell-cell adhesion IEA
 biological_processGO:1902373 negative regulation of mRNA catabolic process ISO
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm ISO
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030057 desmosome IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle ISO
 cellular_componentGO:1990124 messenger ribonucleoprotein complex ISO
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005521 lamin binding ISO


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
 MP:0001199 thin skin "reduced thickness of the outer protective layer of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49471]
Show

Allelic Composition: SptssbTvrm122/Sptssb+
Genetic Background: involves: A * C57BL/6

 MP:0001212 skin lesions "focal patches of inflammation on the skin" [J:30162]
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Allelic Composition: SptssbTvrm122/Sptssb+
Genetic Background: involves: A * C57BL/6

 MP:0001233 abnormal suprabasal layer morphology "malformed or atypical condition of the suprabasal layer of the skin" [J:56777]
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Allelic Composition: SptssbTvrm122/Sptssb+
Genetic Background: involves: A * C57BL/6

 MP:0001239 abnormal granular layer morphology "structural or developmental anomaly of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: SptssbTvrm122/Sptssb+
Genetic Background: involves: A * C57BL/6

 MP:0001240 abnormal cornified layer morphology "structural or developmental anomaly of the outer layer of the epidermis, consisting of several layers of flat keratinized non-nucleated cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: SptssbTvrm122/Sptssb+
Genetic Background: involves: A * C57BL/6

 MP:0001263 weight loss "progressive reduction of body weight below normal average for age" [J:45400]
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Allelic Composition: SptssbTvrm122/Sptssb+
Genetic Background: involves: A * C57BL/6

 MP:0001284 absent vibrissae "missing whiskers" [J:18378]
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Allelic Composition: SptssbTvrm122/Sptssb+
Genetic Background: involves: A * C57BL/6

 MP:0001429 dehydration "excessive water loss from the body or from an organ or bodily part" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:50053]
Show

Allelic Composition: SptssbTvrm122/Sptssb+
Genetic Background: involves: A * C57BL/6

 MP:0002655 abnormal keratinocyte morphology "structural or developmental anomaly of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: SptssbTvrm122/Sptssb+
Genetic Background: involves: A * C57BL/6

 MP:0002796 impaired skin barrier function "impaired ability of the skin to regulate water loss; frequently leads to dehydration" [J:56641]
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Allelic Composition: SptssbTvrm122/Sptssb+
Genetic Background: involves: A * C57BL/6

 MP:0003089 reduced skin tensile strength "reduction in the normal maximum tension the skin can withstand without tearing" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator, J:48068]
Show

Allelic Composition: SptssbTvrm122/Sptssb+
Genetic Background: involves: A * C57BL/6

 MP:0003453 abnormal keratinocyte physiology "atypical function of the cells of the epidermis that produce keratin" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator, J:94860]
Show

Allelic Composition: SptssbTvrm122/Sptssb+
Genetic Background: involves: A * C57BL/6

 MP:0003566 abnormal cell adhesion "altered ability of a cell to adhere to another cell or to a non-cellular component of the environment" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: SptssbTvrm122/Sptssb+
Genetic Background: involves: A * C57BL/6

 MP:0008844 decreased subcutaneous adipose tissue amount "reduction in amount of adipose tissue beneath the skin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: SptssbTvrm122/Sptssb+
Genetic Background: involves: A * C57BL/6

 MP:0009584 decreased keratinocyte proliferation "reduction in the expansion rate of keratinocytes by cell division" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: SptssbTvrm122/Sptssb+
Genetic Background: involves: A * C57BL/6

 MP:0009598 thin epidermis stratum granulosum "decreased thickness of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: SptssbTvrm122/Sptssb+
Genetic Background: involves: A * C57BL/6

 MP:0009674 decreased birth weight "reduction in average weight at birth compared to controls" [RGD:cur "Rat Genome Database submission"]
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Allelic Composition: SptssbTvrm122/Sptssb+
Genetic Background: involves: A * C57BL/6

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
Show

Allelic Composition: SptssbTvrm122/Sptssb+
Genetic Background: involves: A * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000031628 Casp3 / P70677 / Caspase-3 Caspase-3 subunit p17 Caspase-3 subunit p12 / P42574* / caspase 3*  / reaction






 

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