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Q09019 (DMWD_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 112. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Dystrophia myotonica WD repeat-containing protein
Alternative name(s):
Dystrophia myotonica-containing WD repeat motif protein
Protein 59
Protein DMR-N9
Gene names
Name:DMWD
Synonyms:DM9
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length674 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Could have a regulatory function in meiosis. Ref.3

Tissue specificity

Strongest expression in brain, liver, and testis. Also expressed in kidney and spleen.

Miscellaneous

May have a role in the development of mental symptoms in severe cases of myotonic dystrophy.

Sequence similarities

Contains 5 WD repeats.

Caution

It is uncertain whether Met-1 or Met-16 is the initiator.

Ontologies

Keywords
   DomainRepeat
WD repeat
   PTMAcetylation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.4
Chain2 – 674673Dystrophia myotonica WD repeat-containing protein
PRO_0000050956

Regions

Repeat211 – 25141WD 1
Repeat282 – 32140WD 2
Repeat324 – 36340WD 3
Repeat413 – 45341WD 4
Repeat601 – 63838WD 5

Amino acid modifications

Modified residue21N-acetylalanine Ref.4

Experimental info

Sequence conflict3061G → A in AAA35767. Ref.2
Sequence conflict3781P → SL in AAA35767. Ref.2
Sequence conflict6291A → P in AAA35767. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Q09019 [UniParc].

Last modified November 25, 2008. Version 3.
Checksum: DC93F6930915E928

FASTA67470,438
        10         20         30         40         50         60 
MAAGGAEGGS GPGAAMGDCA EIKSQFRTRE GFYKLLPGDG AARRSGPASA QTPVPPQPPQ 

        70         80         90        100        110        120 
PPPGPASASG PGAAGPASSP PPAGPGPGPA LPAVRLSLVR LGEPDSAGAG EPPATPAGLG 

       130        140        150        160        170        180 
SGGDRVCFNL GRELYFYPGC CRRGSQRSID LNKPIDKRIY KGTQPTCHDF NQFTAATETI 

       190        200        210        220        230        240 
SLLVGFSAGQ VQYLDLIKKD TSKLFNEERL IDKTKVTYLK WLPESESLFL ASHASGHLYL 

       250        260        270        280        290        300 
YNVSHPCASA PPQYSLLKQG EGFSVYAAKS KAPRNPLAKW AVGEGPLNEF AFSPDGRHLA 

       310        320        330        340        350        360 
CVSQDGCLRV FHFDSMLLRG LMKSYFGGLL CVCWSPDGRY VVTGGEDDLV TVWSFTEGRV 

       370        380        390        400        410        420 
VARGHGHKSW VNAVAFDPYT TRAEEAATAA GADGERSGEE EEEEPEAAGT GSAGGAPLSP 

       430        440        450        460        470        480 
LPKAGSITYR FGSAGQDTQF CLWDLTEDVL YPHPPLARTR TLPGTPGTTP PAASSSRGGE 

       490        500        510        520        530        540 
PGPGPLPRSL SRSNSLPHPA GGGKAGGPGV AAEPGTPFSI GRFATLTLQE RRDRGAEKEH 

       550        560        570        580        590        600 
KRYHSLGNIS RGGSGGSGSG GEKPSGPVPR SRLDPAKVLG TALCPRIHEV PLLEPLVCKK 

       610        620        630        640        650        660 
IAQERLTVLL FLEDCIITAC QEGLICTWAR PGKAFTDEET EAQTGEGSWP RSPSKSVVEG 

       670 
ISSQPGNSPS GTVV 

« Hide

References

« Hide 'large scale' references
[1]"The DNA sequence and biology of human chromosome 19."
Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. expand/collapse author list , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]"Genomic organization and transcriptional units at the myotonic dystrophy locus."
Shaw D.J., McCurrach M., Rundle S.A., Harley H.G., Crow S.R., Sohn R., Thirion J.-P., Hamshere M.G., Buckler A.J., Harper P.S., Housman D.E., Brook J.D.
Genomics 18:673-679(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 123-674.
Tissue: Brain.
[3]"Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene."
Mahadevan M.S., Amemiya C., Jansen G., Sabourin L., Baird S., Neville C.E., Wormskamp N., Segers B., Batzer M., Lamerdin J., de Jong P.J., Wieringa B., Korneluk R.G.
Hum. Mol. Genet. 2:299-304(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 660-674, ROLE IN MYOTONIC DYSTROPHY.
[4]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AC011530 Genomic DNA. No translation available.
L19267 mRNA. Translation: AAA35767.1.
L08835 Genomic DNA. Translation: AAC14447.1.
PIRA49364.
RefSeqNP_004934.1. NM_004943.1.
UniGeneHs.515474.

3D structure databases

ProteinModelPortalQ09019.
SMRQ09019. Positions 283-447.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108102. 36 interactions.
IntActQ09019. 36 interactions.
MINTMINT-1393924.
STRING9606.ENSP00000270223.

PTM databases

PhosphoSiteQ09019.

Polymorphism databases

DMDM215274169.

Proteomic databases

PaxDbQ09019.
PRIDEQ09019.

Protocols and materials databases

DNASU1762.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000270223; ENSP00000270223; ENSG00000185800.
GeneID1762.
KEGGhsa:1762.
UCSCuc002pdj.1. human.

Organism-specific databases

CTD1762.
GeneCardsGC19M046286.
H-InvDBHIX0202835.
HGNCHGNC:2936. DMWD.
MIM609857. gene.
neXtProtNX_Q09019.
PharmGKBPA27390.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2319.
HOGENOMHOG000007484.
HOVERGENHBG011270.
InParanoidQ09019.
OMAVEGHHHP.
PhylomeDBQ09019.
TreeFamTF314961.

Enzyme and pathway databases

SignaLinkQ09019.

Gene expression databases

ArrayExpressQ09019.
BgeeQ09019.
CleanExHS_DMWD.
GenevestigatorQ09019.

Family and domain databases

Gene3D2.130.10.10. 4 hits.
InterProIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamPF00400. WD40. 3 hits.
[Graphical view]
SMARTSM00320. WD40. 4 hits.
[Graphical view]
SUPFAMSSF50978. SSF50978. 3 hits.
PROSITEPS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiDMWD_(gene).
GenomeRNAi1762.
NextBio7183.
PROQ09019.
SOURCESearch...

Entry information

Entry nameDMWD_HUMAN
AccessionPrimary (citable) accession number: Q09019
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: November 25, 2008
Last modified: April 16, 2014
This is version 112 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM