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

Summary

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 be located in cell projection and nucleus. Is expressed in several structures, including brain; sensory organ; skeletal muscle; testis; and trophectoderm. Orthologous to human DMWD (DM1 locus, WD repeat containing). [provided by Alliance of Genome Resources, Apr 2022]
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

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_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The DMWD protein level gradually increased, was expressed specifically in the neuropil of areas with a high density of synaptic connections and was dispersed in a punctuate fashion throughout the neural cell body, but excluded from axons
Title: The DMWD protein from the myotonic dystrophy (DM1) gene region is developmentally regulated and is present most prominently in synapse-dense brain areas.

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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

RH75247 (e-PCR)
- UniSTS:87387

RH93875 (e-PCR)
- UniSTS:92538

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables deubiquitinase activator activity	ISO Inferred from Sequence Orthology more info
enables molecular_function	ND No biological Data available more info

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
is_active_in cellular_component	ND No biological Data available more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology 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)

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
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

NC_000073.7 Reference GRCm39 C57BL/6J

Range

18810002..18816701

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...