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

Gene ID: 1762, updated on 5-Aug-2018

Summary

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; Vega:OTTHUMG00000169044
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
Expression
Ubiquitous expression in testis (RPKM 11.5), brain (RPKM 11.3) and 25 other tissues See more
Orthologs

Genomic context

See DMWD in Genome Data Viewer
Location:
19q13.32
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (45783006..45792802, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (46286205..46296060, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene origin of replication in DMPK trinucleotide repeat region Neighboring gene dystrophia myotonica protein kinase repeat instability region Neighboring gene SIX homeobox 5 Neighboring gene DM1 locus antisense RNA Neighboring gene DM1 protein kinase Neighboring gene radial spoke head 6 homolog A Neighboring gene symplekin

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: DMPK

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
dendrite IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
perikaryon IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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

    See identical proteins and their annotated locations for NP_004934.1

    Status: VALIDATED

    Source sequence(s)
    BC019266, BC041034, BG106514, BM922103, BQ189202, BX283745, CD106470, L19267
    Consensus CDS
    CCDS33054.1
    UniProtKB/Swiss-Prot
    Q09019
    UniProtKB/TrEMBL
    Q8WUW6
    Related
    ENSP00000270223.5, OTTHUMP00000239991, ENST00000270223.6, OTTHUMT00000402063
    Conserved Domains (3) summary
    COG2319
    Location:139379
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:217282
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:284378
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    45783006..45792802 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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