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Dmwd dystrophia myotonica-containing WD repeat motif [ Mus musculus (house mouse) ]

Gene ID: 13401, updated on 28-Oct-2024

Summary

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Official Symbol
Dmwdprovided by MGI
Official Full Name
dystrophia myotonica-containing WD repeat motifprovided by MGI
Primary source
MGI:MGI:94907
See related
Ensembl:ENSMUSG00000030410 AllianceGenome:MGI:94907
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Dm9; DMR-N9
Summary
Predicted to enable deubiquitinase activator activity. Predicted to be located in cytoplasm and nucleus. Is expressed in several structures, including brain; genitourinary system; sensory organ; skeletal muscle; and trophectoderm. Orthologous to human DMWD (DM1 locus, WD repeat containing). [provided by Alliance of Genome Resources, Oct 2024]
Expression
Ubiquitous expression in ovary adult (RPKM 66.7), adrenal adult (RPKM 65.5) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Dmwd in Genome Data Viewer
Location:
7 A3; 7 9.46 cM
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (18810002..18816701)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (19076112..19082778)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene symplekin Neighboring gene radial spoke head 6 homolog A (Chlamydomonas) Neighboring gene STARR-positive B cell enhancer ABC_E8152 Neighboring gene microRNA 3100 Neighboring gene STARR-positive B cell enhancer ABC_E9285 Neighboring gene dystrophia myotonica-protein kinase Neighboring gene meiosis initiator Neighboring gene sine oculis-related homeobox 5

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 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. On the role of brain serotonin in expression of genetic predisposition to catalepsy in animal models. Popova NK, et al. Am J Med Genet, 1995 Jun 19. PMID 7573174
  2. The DMWD protein from the myotonic dystrophy (DM1) gene region is developmentally regulated and is present most prominently in synapse-dense brain areas. Westerlaken JH, et al. Brain Res, 2003 May 2. PMID 12691844
  3. Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. Jansen G, et al. Nat Genet, 1996 Jul. PMID 8673131
  4. Transgenic mouse models for myotonic dystrophy type 1 (DM1). Wansink DG, et al. Cytogenet Genome Res, 2003. PMID 14526185
  5. Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs. Jansen G, et al. Nat Genet, 1992 Jul. PMID 1302022

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC37679, MGC115779

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables deubiquitinase activator activity ISO
Inferred from Sequence Orthology
more info
  
enables deubiquitinase activator activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables molecular_function ND
No biological Data available
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in dendrite IEA
Inferred from Electronic Annotation
more info
  
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in perikaryon IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
dystrophia myotonica WD repeat-containing protein
Names
dystrophia myotonica linked gene, N9
dystrophia myotonica-containing WD repeat motif protein

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_001374607.1 → NP_001361536.1  dystrophia myotonica WD repeat-containing protein isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC170864
    Consensus CDS
    CCDS90169.1
    UniProtKB/TrEMBL
    E9Q6J8
    Related
    ENSMUSP00000104119.2, ENSMUST00000108479.2

  2. NM_010058.2 → NP_034188.2  dystrophia myotonica WD repeat-containing protein isoform 1

    See identical proteins and their annotated locations for NP_034188.2

    Status: VALIDATED

    Source sequence(s)
    AC170864, AK086899, BC089027, CF169673
    Consensus CDS
    CCDS20888.2
    UniProtKB/Swiss-Prot
    E9QLY4, Q08274
    Related
    ENSMUSP00000032570.8, ENSMUST00000032570.14
    Conserved Domains (3) summary
    COG2319
    Location:98 → 376
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:214 → 254
    7WD40; WD40 repeat [structural motif]
    cl29593
    Location:281 → 375
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

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_000073.7 Reference GRCm39 C57BL/6J

    Range
    18810002..18816701
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006539524.5 → XP_006539587.1  dystrophia myotonica WD repeat-containing protein isoform X1

    Conserved Domains (2) summary
    sd00039
    Location:190 → 230
    7WD40; WD40 repeat [structural motif]
    cl29593
    Location:257 → 351
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q08274.3 GenPept UniProtKB/Swiss-Prot:Q08274

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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