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    Dsg1b desmoglein 1 beta [ Mus musculus (house mouse) ]

    Gene ID: 225256, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Dsg1bprovided by MGI
    Official Full Name
    desmoglein 1 betaprovided by MGI
    Primary source
    MGI:MGI:2664357
    See related
    Ensembl:ENSMUSG00000061928 AllianceGenome:MGI:2664357
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Dsg5; dsg1-beta
    Summary
    This gene encodes a member of the cadherin family of proteins that forms an integral transmembrane component of desmosomes, the multiprotein complexes involved in cell adhesion, organization of the cytoskeleton, cell sorting and cell signaling. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. [provided by RefSeq, Jan 2016]
    Expression
    Biased expression in testis adult (RPKM 2.7), stomach adult (RPKM 1.8) and 4 other tissues See more
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    Genomic context

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    See Dsg1b in Genome Data Viewer
    Location:
    18 A2; 18 11.32 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (20509786..20545240)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (20376729..20412183)

    Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_43960 Neighboring gene desmoglein 1 gamma Neighboring gene STARR-seq mESC enhancer starr_43962 Neighboring gene predicted gene, 31237 Neighboring gene desmoglein 1 alpha Neighboring gene STARR-seq mESC enhancer starr_43965 Neighboring gene desmoglein 4 Neighboring gene STARR-seq mESC enhancer starr_43966 Neighboring gene tubulin, alpha 1C pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Differential structural properties and expression patterns suggest functional significance for multiple mouse desmoglein 1 isoforms. Brennan D, et al. Differentiation, 2004 Oct. PMID 15606502
    2. Desmoglein 1 Deficiency Causes Lethal Skin Blistering. Kugelmann D, et al. J Invest Dermatol, 2019 Jul. PMID 30660666
    3. Novel member of the mouse desmoglein gene family: Dsg1-beta. Pulkkinen L, et al. Exp Dermatol, 2003 Feb. PMID 12631242
    4. Genomic sequence analysis of the mouse desmoglein cluster reveals evidence for six distinct genes: characterization of mouse DSG4, DSG5, and DSG6. Whittock NV. J Invest Dermatol, 2003 Jun. PMID 12787123
    5. Mouse homologue of skin-specific retroviral-like aspartic protease involved in wrinkle formation. Matsui T, et al. J Biol Chem, 2006 Sep 15. PMID 16837463

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cloned and characterized a novel member of the mouse desmoglein gene family, Dsg1-beta.
      Title: Novel member of the mouse desmoglein gene family: Dsg1-beta.
    2. Desmogleins 4, 5, and 6 are all expressed in the epidermis but are expressed during different times of mouse development.
      Title: Genomic sequence analysis of the mouse desmoglein cluster reveals evidence for six distinct genes: characterization of mouse DSG4, DSG5, and DSG6.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2)  1 citation
    • Targeted (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables gamma-catenin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables gamma-catenin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein stabilization ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in apical plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    colocalizes_with cell-cell junction ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasmic side of plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in desmosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in desmosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in desmosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in lateral plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    desmoglein-1-beta
    Names
    desmoglein 5

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_181682.2 → NP_859010.1  desmoglein-1-beta preproprotein

      See identical proteins and their annotated locations for NP_859010.1

      Status: REVIEWED

      Source sequence(s)
      AC164648, AK036986
      Consensus CDS
      CCDS29081.1
      UniProtKB/Swiss-Prot
      Q7TQ60, Q7TSF1
      UniProtKB/TrEMBL
      B2RQH0
      Related
      ENSMUSP00000076026.7, ENSMUST00000076737.7
      Conserved Domains (3) summary
      cd11304
      Location:165 → 265
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:73 → 155
      CA; Cadherin repeats
      pfam01049
      Location:667 → 782
      Cadherin_C; Cadherin cytoplasmic region

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000084.7 Reference GRCm39 C57BL/6J

      Range
      20509786..20545240
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006525821.1 → XP_006525884.1  desmoglein-1-beta isoform X1

      Conserved Domains (1) summary
      pfam01049
      Location:201 → 316
      Cadherin_C; Cadherin cytoplasmic region
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7TSF1.1 GenPept UniProtKB/Swiss-Prot:Q7TSF1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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