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    DMWD DM1 locus, WD repeat containing [ Homo sapiens (human) ]

    Gene ID: 1762, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DMWDprovided by HGNC
    Official Full Name
    DM1 locus, WD repeat containingprovided by HGNC
    Primary source
    HGNC:HGNC:2936
    See related
    Ensembl:ENSG00000185800 MIM:609857; AllianceGenome:HGNC:2936
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DMRN9; DMR-N9; gene59; D19S593E
    Summary
    Enables deubiquitinase activator activity. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 11.5), brain (RPKM 11.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DMWD in Genome Data Viewer
    Location:
    19q13.32
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (45782947..45792845, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (48610437..48620335, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (46286205..46296103, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene origin of replication in DMPK trinucleotide repeat region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46270229-46270864 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46270929-46271488 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10794 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10795 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14819 Neighboring gene dystrophia myotonica protein kinase repeat instability region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10796 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14820 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10797 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46274849-46275406 Neighboring gene SIX homeobox 5 Neighboring gene DM1 locus antisense RNA Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46280233-46280966 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10798 Neighboring gene DM1 protein kinase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14821 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14822 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10799 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46304143-46305004 Neighboring gene radial spoke head 6 homolog A Neighboring gene MED14-independent group 3 enhancer GRCh37_chr19:46313062-46314261 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14823 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10800 Neighboring gene symplekin scaffold protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46329961-46330728 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46365430-46366068 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14824

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Expanding complexity in myotonic dystrophy. Groenen P, et al. Bioessays, 1998 Nov. PMID 9872056
    2. Decreased DMPK transcript levels in myotonic dystrophy 1 type IIA muscle fibers. Eriksson M, et al. Biochem Biophys Res Commun, 2001 Sep 7. PMID 11527424
    3. Transgenic mouse models for myotonic dystrophy type 1 (DM1). Wansink DG, et al. Cytogenet Genome Res, 2003. PMID 14526185
    4. Genomic organization and transcriptional units at the myotonic dystrophy locus. Shaw DJ, et al. Genomics, 1993 Dec. PMID 7905855
    5. Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat. Alwazzan M, et al. Hum Mol Genet, 1999 Aug. PMID 10400997

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: DMPK

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables deubiquitinase activator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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, WD repeat containing
    dystrophia myotonica-containing WD repeat motif protein
    protein 59

    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_004943.2 → NP_004934.1  dystrophia myotonica WD repeat-containing protein

      See identical proteins and their annotated locations for NP_004934.1

      Status: VALIDATED

      Source sequence(s)
      AC011530, BC019266, BC041034, BG106514, BM922103, BQ189202, BX283745, CD106470, L19267
      Consensus CDS
      CCDS33054.1
      UniProtKB/Swiss-Prot
      Q09019
      UniProtKB/TrEMBL
      G5E9A7
      Related
      ENSP00000270223.5, ENST00000270223.7
      Conserved Domains (3) summary
      COG2319
      Location:139 → 379
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:217 → 282
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:284 → 378
      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_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      45782947..45792845 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      48610437..48620335 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q09019.3 GenPept UniProtKB/Swiss-Prot:Q09019

    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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