ENSMUSG00000044322


Mus musculus

Features
Gene ID: ENSMUSG00000044322
  
Biological name :Dsc1
  
Synonyms : Desmocollin-1 / Dsc1 / P55849
  
Possible biological names infered from orthology : Q08554
  
Species: Mus musculus
  
Chr. number: 18
Strand: -1
Band: A2
Gene start: 20084184
Gene end: 20114871
  
Corresponding Affymetrix probe sets: 10457707 (MoGene1.0st)   1421460_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000042303
Ensembl peptide - ENSMUSP00000153126
Ensembl peptide - ENSMUSP00000153639
NCBI entrez gene - 13505     See in Manteia.
MGI - MGI:109173
RefSeq - NM_001291804
RefSeq - NM_013504
RefSeq Peptide - NP_001278733
RefSeq Peptide - NP_038532
swissprot - Q32ME9
swissprot - P55849
swissprot - A0A286YCT9
Ensembl - ENSMUSG00000044322
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 dsc2lENSDARG00000039677Danio rerio
 ENSGALG00000015140Gallus gallus
 DSC1ENSG00000134765Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Dsc3 / P55850 / Desmocollin-3 / Q14574*ENSMUSG0000005989851
Dsc2 / P55292 / Desmocollin-2 / Q02487*ENSMUSG0000002433150
Cdh2 / P15116 / Cadherin-2 / P19022*ENSMUSG0000002430432
Cdh4 / P39038 / Cadherin-4 / P55283*ENSMUSG0000000030530
Cdh1 / cadherin 1 / P12830*ENSMUSG0000000030330
Cdh3 / P10287 / Cadherin-3 / P22223*ENSMUSG0000006104828
Cdh13 / Q9WTR5 / Cadherin-13 / P55290*ENSMUSG0000003184126
Cdh15 / P33146 / Cadherin-15 / P55291*ENSMUSG0000003196225
Cdh26 / P59862 / Cadherin-like protein 26 / Q8IXH8* / cadherin 26*ENSMUSG0000003915523


Protein motifs (from Interpro)
Interpro ID Name
 IPR000233  Cadherin, cytoplasmic domain
 IPR002126  Cadherin
 IPR009122  Desmosomal cadherin
 IPR014868  Cadherin prodomain
 IPR015919  Cadherin-like
 IPR020894  Cadherin conserved site
 IPR027397  Catenin binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030057 desmosome IDA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IPI


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


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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: Nf1tm1Tyj/Nf1tm1Tyj,Rasa1tm1Paw/Rasa1tm1Paw
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * CD-1)

 MP:0001194 dermatitis "inflammation of the skin" [J:65146]
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Allelic Composition: Nf1tm1Tyj/Nf1tm1Tyj,Rasa1tm1Paw/Rasa1tm1Paw
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * CD-1)

 MP:0001195 flaky skin "shedding scales on the skin " [J:56641]
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Allelic Composition: Nf1tm1Tyj/Nf1tm1Tyj,Rasa1tm1Paw/Rasa1tm1Paw
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * CD-1)

 MP:0001212 skin lesions "focal patches of inflammation on the skin" [J:30162]
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Allelic Composition: Nf1tm1Tyj/Nf1tm1Tyj,Rasa1tm1Paw/Rasa1tm1Paw
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * CD-1)

 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]
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Allelic Composition: Nf1tm1Tyj/Nf1tm1Tyj,Rasa1tm1Paw/Rasa1tm1Paw
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * CD-1)

 MP:0001219 thickened epidermis "increase in the width of the epidermal cell layer in the skin" [J:65146]
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Allelic Composition: Nf1tm1Tyj/Nf1tm1Tyj,Rasa1tm1Paw/Rasa1tm1Paw
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * CD-1)

 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]
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Allelic Composition: Nf1tm1Tyj/Nf1tm1Tyj,Rasa1tm1Paw/Rasa1tm1Paw
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * CD-1)

 MP:0001236 abnormal spinous layer morphology "structual or developmental anomaly of the layer of polyhedral cells in the epidermis; shrinkage and adhesion of these cells gives a spiny or prickly appearance" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Nf1tm1Tyj/Nf1tm1Tyj,Rasa1tm1Paw/Rasa1tm1Paw
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * CD-1)

 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]
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Allelic Composition: Nf1tm1Tyj/Nf1tm1Tyj,Rasa1tm1Paw/Rasa1tm1Paw
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * CD-1)

 MP:0001242 hyperkeratosis "increased depth of the corneal layer of the epidermis; thickening of the horny layer of the epidermis" [J:1133]
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Allelic Composition: Nf1tm1Tyj/Nf1tm1Tyj,Rasa1tm1Paw/Rasa1tm1Paw
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * CD-1)

 MP:0001247 dermal cysts "abnormal membranous sacs appearing in the dermis" [J:53379]
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Allelic Composition: Nf1tm1Tyj/Nf1tm1Tyj,Rasa1tm1Paw/Rasa1tm1Paw
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * CD-1)

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Nf1tm1Tyj/Nf1tm1Tyj,Rasa1tm1Paw/Rasa1tm1Paw
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * CD-1)

 MP:0001297 microphthalmia "reduced average size of the eyes" [J:18048]
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Allelic Composition: Nf1tm1Tyj/Nf1tm1Tyj,Rasa1tm1Paw/Rasa1tm1Paw
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * CD-1)

 MP:0001302 eyelids open at birth "widely open eyes instead of closed at perinatal stage" [J:51966]
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Allelic Composition: Nf1tm1Tyj/Nf1tm1Tyj,Rasa1tm1Paw/Rasa1tm1Paw
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * CD-1)

 MP:0001314 corneal opacity "complete or partial clouding of the cornea" [jte:Janan T. Eppig , Mouse Genome Informatics, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Nf1tm1Tyj/Nf1tm1Tyj,Rasa1tm1Paw/Rasa1tm1Paw
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * CD-1)

 MP:0001511 disheveled coat "coat that looks generally unkempt" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Nf1tm1Tyj/Nf1tm1Tyj,Rasa1tm1Paw/Rasa1tm1Paw
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * CD-1)

 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: Smarca2tm1Mya/Smarca2tm1Mya
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0002656 abnormal keratinocyte differentiation "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]
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Allelic Composition: Nf1tm1Tyj/Nf1tm1Tyj,Rasa1tm1Paw/Rasa1tm1Paw
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * CD-1)

 MP:0002796 impaired skin barrier function "impaired ability of the skin to regulate water loss; frequently leads to dehydration" [J:56641]
Show

Allelic Composition: Nf1tm1Tyj/Nf1tm1Tyj,Rasa1tm1Paw/Rasa1tm1Paw
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * CD-1)

 MP:0003413 hair follicle degeneration "a retrogressive impairment of function or destruction of the hair follicle" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator, J:94517]
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Allelic Composition: Nf1tm1Tyj/Nf1tm1Tyj,Rasa1tm1Paw/Rasa1tm1Paw
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * CD-1)

 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]
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Allelic Composition: Nf1tm1Tyj/Nf1tm1Tyj,Rasa1tm1Paw/Rasa1tm1Paw
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * CD-1)

 MP:0004241 acantholysis "separation of prickle cells of the spinous layer of the epidermis, resulting in atrophy of the prickle cell layer, as in conditions such as pemphigus vulgaris and Darier disease" [MESH:C17.800.865.070]
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Allelic Composition: Nf1tm1Tyj/Nf1tm1Tyj,Rasa1tm1Paw/Rasa1tm1Paw
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * CD-1)

 MP:0009264 failure of eyelid fusion "the upper and lower thin folds of skin and muscle that cover the exposed portion of the eye do not fuse together during development" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Nf1tm1Tyj/Nf1tm1Tyj,Rasa1tm1Paw/Rasa1tm1Paw
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * CD-1)

 MP:0010700 hair follicle comedo "a dilated or widened hair follicle filled with keratin squamae (skin debris), bacteria, and/or sebum (oil)" [http://www.medterms.com "MedicineNet.com"]
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Allelic Composition: Nf1tm1Tyj/Nf1tm1Tyj,Rasa1tm1Paw/Rasa1tm1Paw
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * CD-1)

 MP:0030533 abnormal snout skin morphology "any anomaly in a zone of skin that is part of the snout" [UBERON:1000015]
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Allelic Composition: Nf1tm1Tyj/Nf1tm1Tyj,Rasa1tm1Paw/Rasa1tm1Paw
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * CD-1)

  


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






 

1 s.

 
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