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

Gene ID: 1762, updated on 5-Mar-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
Predicted to be located in dendrite; nucleus; and perikaryon. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
19q13.32
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (45782947..45792845, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (48610437..48620335, complement)
105.20220307 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. Transgenic mouse models for myotonic dystrophy type 1 (DM1). Wansink DG, et al. Cytogenet Genome Res, 2003. PMID 14526185
  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. Expanding complexity in myotonic dystrophy. Groenen P, et al. Bioessays, 1998 Nov. PMID 9872056
  4. Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis. Santoro M, et al. Clin Genet, 2017 Oct. PMID 27991661
  5. Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy. Frisch R, et al. Mol Genet Metab, 2001 Sep-Oct. PMID 11592825

See all (30) 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)

Genotypes

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 molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  
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_2023_10

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

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