ENSMUSG00000054065


Mus musculus

Features
Gene ID: ENSMUSG00000054065
  
Biological name :Pkp3
  
Synonyms : Pkp3 / Plakophilin-3 / Q9QY23
  
Possible biological names infered from orthology : Q9Y446
  
Species: Mus musculus
  
Chr. number: 7
Strand: 1
Band: F5
Gene start: 141078218
Gene end: 141090510
  
Corresponding Affymetrix probe sets: 10558795 (MoGene1.0st)   1418831_at (Mouse Genome 430 2.0 Array)   1418832_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000101654
Ensembl peptide - ENSMUSP00000124572
Ensembl peptide - ENSMUSP00000124434
Ensembl peptide - ENSMUSP00000124013
Ensembl peptide - ENSMUSP00000069961
NCBI entrez gene - 56460     See in Manteia.
MGI - MGI:1891830
RefSeq - XM_017322376
RefSeq - NM_001162924
RefSeq - NM_019762
RefSeq Peptide - NP_001156396
RefSeq Peptide - NP_062736
swissprot - Q9QY23
swissprot - E0CYP0
swissprot - E0CY06
swissprot - E0CY75
Ensembl - ENSMUSG00000054065
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pkp3aENSDARG00000051861Danio rerio
 pkp3bENSDARG00000079438Danio rerio
 PKP3ENSGALG00000004260Gallus gallus
 PKP3ENSG00000184363Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Pkp2 / plakophilin 2 / Q99959*ENSMUSG0000004195727
Ctnnd2 / catenin delta-2 isoform 2 / Q9UQB3* / catenin delta 2*ENSMUSG0000002224027
Pkp1 / P97350 / Plakophilin-1 / Q13835*ENSMUSG0000002641326
Pkp4 / Q68FH0 / plakophilin 4 / Q99569*ENSMUSG0000002699125
Arvcf / P98203 / Armadillo repeat protein deleted in velo-cardio-facial syndrome homolog / O00192* / ARVCF, delta catenin family member*ENSMUSG0000000032524
Ctnnd1 / P30999 / Mus musculus catenin (cadherin associated protein), delta 1 (Ctnnd1), transcript variant 7, mRNA. / O60716* / catenin delta 1*ENSMUSG0000003410123
P30999 / Gm28635 / predicted gene 28635 / O60716* / CTNND1* / catenin delta 1*ENSMUSG0000010164523


Protein motifs (from Interpro)
Interpro ID Name
 IPR000225  Armadillo
 IPR011989  Armadillo-like helical
 IPR016024  Armadillo-type fold
 IPR028434  Plakophilin-3
 IPR028435  Plakophilin/Delta catenin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002159 desmosome assembly ISO
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0010628 positive regulation of gene expression ISO
 biological_processGO:0072659 protein localization to plasma membrane 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:0005913 cell-cell adherens junction ISO
 cellular_componentGO:0005914 spot adherens junction ISS
 cellular_componentGO:0030054 cell junction ISO
 cellular_componentGO:0030057 desmosome IEA
 cellular_componentGO:1990124 messenger ribonucleoprotein complex ISO
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0019899 enzyme binding ISO
 molecular_functionGO:0045294 alpha-catenin binding ISO
 molecular_functionGO:0050839 cell adhesion molecule binding ISO
 molecular_functionGO:0098641 cadherin binding involved in cell-cell adhesion ISO


Pathways (from Reactome)
Pathway description
Keratinization
Formation of the cornified envelope


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000382 underdeveloped hair follicles "arrest of or retarded differentiation of the epidermal invaginations from which the hair shaft develops" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61790]
Show

Allelic Composition: Pkp3tm1.1Fvr/Pkp3tm1.1Fvr
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA * SJL

 MP:0000383 abnormal hair follicle orientation "misaligned hair follicles; hair follicles that do not orient in a typical pattern" [J:47620]
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Allelic Composition: Igh-Jtm1Jkbv/Igh-Jtm1Jkbv,Igkctm1Jkbv/Igkctm1Jkbv,Tg(IGH@yH2)J9.2Jkbv/0,Tg(IGK@yK2)J23.1Jkbv/Tg(IGK@yK2)J23.1Jkbv
Genetic Background: involves: 129P2/OlaHsd

 MP:0000400 abnormal awl hair "anomalies of truncal hairs that contain two or more air cells in the medulla" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Igh-Jtm1Jkbv/Igh-Jtm1Jkbv,Igkctm1Jkbv/Igkctm1Jkbv,Tg(IGH@yH2)J9.2Jkbv/0,Tg(IGK@yK2)J23.1Jkbv/Tg(IGK@yK2)J23.1Jkbv
Genetic Background: involves: 129P2/OlaHsd

 MP:0000402 abnormal zigzag hairs "anomalies of truncal hairs that contain one air cell in the medulla" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Igh-Jtm1Jkbv/Igh-Jtm1Jkbv,Igkctm1Jkbv/Igkctm1Jkbv,Tg(IGH@yH2)J9.2Jkbv/0,Tg(IGK@yK2)J23.1Jkbv/Tg(IGK@yK2)J23.1Jkbv
Genetic Background: involves: 129P2/OlaHsd

 MP:0000405 abnormal auchene hairs "anomalies of truncal hairs that contain two or more air cells in the medulla" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Igh-Jtm1Jkbv/Igh-Jtm1Jkbv,Igkctm1Jkbv/Igkctm1Jkbv,Tg(IGH@yH2)J9.2Jkbv/0,Tg(IGK@yK2)J23.1Jkbv/Tg(IGK@yK2)J23.1Jkbv
Genetic Background: involves: 129P2/OlaHsd

 MP:0000414 alopecia "absence of hair or loss of hair; not usually in reference to primary genetic hairlessness but may be due to dietary, stress, secondary to immune condition" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:30772, J:33796]
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Allelic Composition: Igh-Jtm1Jkbv/Igh-Jtm1Jkbv,Igkctm1Jkbv/Igkctm1Jkbv,Tg(IGH@yH2)J9.2Jkbv/0,Tg(IGK@yK2)J23.1Jkbv/Tg(IGK@yK2)J23.1Jkbv
Genetic Background: involves: 129P2/OlaHsd

 MP:0000416 sparse fur "fur that is significantly less dense" [J:46854]
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Allelic Composition: Pkp3tm1.1Fvr/Pkp3tm1.1Fvr
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA * SJL

 MP:0000420 ruffled hair "fuzzy, irregular appearance of the hair" [J:50844]
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Allelic Composition: Pkp3tm1.1Fvr/Pkp3tm1.1Fvr
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA * SJL

 MP:0000424 retarded hair growth "slow growth of the hair, appears at normal time" [J:5476]
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Allelic Composition: Igh-Jtm1Jkbv/Igh-Jtm1Jkbv,Igkctm1Jkbv/Igkctm1Jkbv,Tg(IGH@yH2)J9.2Jkbv/0,Tg(IGK@yK2)J23.1Jkbv/Tg(IGK@yK2)J23.1Jkbv
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Pkp3tm1.1Fvr/Pkp3tm1.1Fvr
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA * SJL

 MP:0000702 enlarged lymph nodes "lymph nodes of increased size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Pkp3tm1.1Fvr/Pkp3tm1.1Fvr
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA * SJL

 MP:0001190 reddish skin "skin has a more intense ruddy appearance than normal, often due to capillary congestion" [J:65038]
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Allelic Composition: Igh-Jtm1Jkbv/Igh-Jtm1Jkbv,Igkctm1Jkbv/Igkctm1Jkbv,Tg(IGH@yH2)J9.2Jkbv/0,Tg(IGK@yK2)J23.1Jkbv/Tg(IGK@yK2)J23.1Jkbv
Genetic Background: involves: 129P2/OlaHsd

 MP:0001194 dermatitis "inflammation of the skin" [J:65146]
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Allelic Composition: Pkp3tm1.1Fvr/Pkp3tm1.1Fvr
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA * SJL

 MP:0001216 abnormal epidermal layer morphology "anomalous structure or development of the superficial epithelial portion of the skin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Igh-Jtm1Jkbv/Igh-Jtm1Jkbv,Igkctm1Jkbv/Igkctm1Jkbv,Tg(IGH@yH2)J9.2Jkbv/0,Tg(IGK@yK2)J23.1Jkbv/Tg(IGK@yK2)J23.1Jkbv
Genetic Background: involves: 129P2/OlaHsd

 MP:0001219 thickened epidermis "increase in the width of the epidermal cell layer in the skin" [J:65146]
Show

Allelic Composition: Pkp3tm1.1Fvr/Pkp3tm1.1Fvr
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA * SJL

 MP:0001222 epidermal hyperplasia "increase in size of the epidermis due to increase in epidermal cell number" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:65146]
Show

Allelic Composition: Pkp3tm1.1Fvr/Pkp3tm1.1Fvr
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA * SJL

 MP:0001510 abnormal coat appearance "coat that looks different from the usual state " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Igh-Jtm1Jkbv/Igh-Jtm1Jkbv,Igkctm1Jkbv/Igkctm1Jkbv,Tg(IGH@yH2)J9.2Jkbv/0,Tg(IGK@yK2)J23.1Jkbv/Tg(IGK@yK2)J23.1Jkbv
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Pkp3tm1.1Fvr/Pkp3tm1.1Fvr
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA * SJL

 MP:0001511 disheveled coat "coat that looks generally unkempt" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Pkp3tm1.1Fvr/Pkp3tm1.1Fvr
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA * SJL

 MP:0001874 acanthosis "diffuse hyperplasia of the spinous layer of the skin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Pkp3tm1.1Fvr/Pkp3tm1.1Fvr
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA * SJL

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pkp3tm1.1Fvr/Pkp3tm1.1Fvr
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA * SJL

 MP:0003427 parakeratosis "abnormal retention of the nuclei of the keratinocytes in the stratum corneum of the epidermis" [smb:Susan M Bello, Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Pkp3tm1.1Fvr/Pkp3tm1.1Fvr
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA * SJL

 MP:0003810 abnormal hair cuticle "anomalies in the thin, smooth and glossy outer protective cell layer of hair shaft" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Pkp3tm1.1Fvr/Pkp3tm1.1Fvr
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA * SJL

 MP:0003812 abnormal hair medulla "anomalies of hair medullary cell formation and arrangement of the innermost core of the hair shaft " [llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Pkp3tm1.1Fvr/Pkp3tm1.1Fvr
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA * SJL

 MP:0003846 matted coat "coat hairs sticks together to form clumps and does not lie flat" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Pkp3tm1.1Fvr/Pkp3tm1.1Fvr
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA * SJL

 MP:0003848 brittle hair "hair is susceptible to breakage " [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pkp3tm1.1Fvr/Pkp3tm1.1Fvr
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA * SJL

 MP:0005150 cachexia "general weight loss and wasting occurring in the course of chronic disease" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Pkp3tm1.1Fvr/Pkp3tm1.1Fvr
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA * SJL

 MP:0008768 abnormal hair medulla air spaces "air spaces between septa-forming cells of hair medulla are larger or smaller than normal" [ISBN:0-8493-8372-2 "Sundberg, JP (ed.) Handbook of Mouse Mutations with Skin and Hair Abnormalities", MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pkp3tm1.1Fvr/Pkp3tm1.1Fvr
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA * SJL

 MP:0009580 increased keratinocyte apoptosis "increase in the number of keratinocytes undergoing programmed cell death" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pkp3tm1.1Fvr/Pkp3tm1.1Fvr
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA * SJL

 MP:0009583 increased keratinocyte proliferation "increase in the expansion rate of keratinocytes by cell division" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pkp3tm1.1Fvr/Pkp3tm1.1Fvr
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA * SJL

 MP:0010234 abnormal vibrissa follicle morphology "any structural anomaly of one of the tubular invaginations of the epidermis enclosing the hair roots and from which grow the vibrissae located on the muzzle and face of many species" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Pkp3tm1.1Fvr/Pkp3tm1.1Fvr
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA * SJL

 MP:0010685 abnormal hair follicle inner root sheath morphology "any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle s layer, Huxley s layer and the inner root sheath cuticle" [PMID:19211055]
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Allelic Composition: Pkp3tm1.1Fvr/Pkp3tm1.1Fvr
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA * SJL

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
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