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DMWD - DM1 locus, WD repeat containing Gene

Also Known as DMRN9; DMR-N9; gene59; D19S593E

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1762

About DMWD

Cytogenetic location: 19q13.32 Genomic coordinates (GRCh38): 19:45,782,947-45,792,845 (from NCBI)

This gene has 8 transcripts (splice variants), 186 orthologues and 1 paralogue. Ubiquitous expression in testis (RPKM 11.5), brain (RPKM 11.3) and 25 other tissues.

Summary

Predicted to be located in dendrite; nucleus; and perikaryon. [provided by Alliance of Genome Resources, Apr 2022]

DMWD Products (1)

mRNA	Protein	Name
NM_004943.2	NP_004934.1	dystrophia myotonica WD repeat-containing protein

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables deubiquitinase activator activity	IDA IDA: Inferred from direct assay	33844468	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	33844468	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	33844468	GOA
located in nucleus	IDA IDA: Inferred from direct assay	33844468	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DMWD Protein Structure

WD40

0
200
400
600
674 a.a.

Protein Preferred Names	Protein Names
dystrophia myotonica WD repeat-containing protein	dystrophia myotonica, WD repeat containing

Related Diseases

Diseases	Alias
Myotonic Dystrophy 1	Myotonic Dystrophy Dystrophia Myotonica Steinert Disease Myotonic Dystrophy Type 1 Myotonia Atrophica DM1 Congenital Myotonic Dystrophy Myotonia Dystrophica Steinert Myotonic Dystrophy Dystrophia Myotonica 1 Dm Steinert'S Disease Steinert Myotonic Dystrophy Syndrome Myotonic Dystrophy Of Steinert Dystrophia Myotonica Type 1 Myotonic Dystrophy Congenital Dystrophy, Myotonic, Type 1 Dm - [Dystrophia Myotonica] Myotonic Muscular Dystrophy
Corticosteroid Allergy
Suppurative Cholangitis
Arthrogryposis, Distal, Type 1a	Distal Arthrogryposis Type 1 Digitotalar Dysmorphism DA1A Da1 Amcd1 Arthrogryposis, Distal, Type 2b4 Distal Arthrogryposis Type 1a Arthrogryposis, Distal, Type 1 Arthrogryposis Multiplex Congenita Distal Type 1 Arthrogryposis Multiplex Congenita, Distal Type 1 Arthrogryposis Multiplex Congenita, Distal, Type I Distal Arthrogryposis Type 1b Arthrogryposis, Distal, 1a Amc Arthrogryposis Multiplex Congenita Arthrogryposis, Distal, 2b4 DA2B4 Arthrogryposis Multiplex Congenita, Distal, Type 1 Arthrogryposis
Hermansky-Pudlak Syndrome 7	HPS7 Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Delta Storage Pool Disease Hermansky-Pudlak Syndrome, Type 7 Platelet Storage Pool Deficiency Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS03835	DMWD Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	DMWD	RGD	RGD:1594179
Bos taurus	DMWD	VGNC	VGNC:97261
Mus musculus	DMWD	MGD	MGI:94907
Others	DMWD	NCBI