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Protein

Dystrophia myotonica WD repeat-containing protein

Gene

DMWD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Caution

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

GO - Biological processi

Enzyme and pathway databases

SignaLinkiQ09019

Names & Taxonomyi

Protein namesi
Recommended name:
Dystrophia myotonica WD repeat-containing protein
Alternative name(s):
Dystrophia myotonica-containing WD repeat motif protein
Protein 59
Protein DMR-N9
Gene namesi
Name:DMWD
Synonyms:DM9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000185800.11
HGNCiHGNC:2936 DMWD
MIMi609857 gene
neXtProtiNX_Q09019

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi1762
OpenTargetsiENSG00000185800
PharmGKBiPA27390

Polymorphism and mutation databases

BioMutaiDMWD
DMDMi215274169

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00000509562 – 674Dystrophia myotonica WD repeat-containing proteinAdd BLAST673

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei495PhosphoserineCombined sources1
Modified residuei551Omega-N-methylarginineBy similarity1

Keywords - PTMi

Acetylation, Methylation, Phosphoprotein

Proteomic databases

EPDiQ09019
MaxQBiQ09019
PaxDbiQ09019
PeptideAtlasiQ09019
PRIDEiQ09019
ProteomicsDBi58711

PTM databases

iPTMnetiQ09019
PhosphoSitePlusiQ09019

Expressioni

Gene expression databases

BgeeiENSG00000185800
CleanExiHS_DMWD
ExpressionAtlasiQ09019 baseline and differential
GenevisibleiQ09019 HS

Organism-specific databases

HPAiHPA068172
HPA069843

Interactioni

Protein-protein interaction databases

BioGridi108102, 65 interactors
IntActiQ09019, 37 interactors
STRINGi9606.ENSP00000270223

Structurei

3D structure databases

ProteinModelPortaliQ09019
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati86 – 156WD 1Add BLAST71
Repeati157 – 202WD 2Add BLAST46
Repeati203 – 274WD 3Add BLAST72
Repeati275 – 316WD 4Add BLAST42
Repeati317 – 394WD 5Add BLAST78
Repeati395 – 444WD 6Add BLAST50

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG2394 Eukaryota
COG2319 LUCA
GeneTreeiENSGT00390000007686
HOGENOMiHOG000007484
HOVERGENiHBG011270
InParanoidiQ09019
OMAiERVCFNI
OrthoDBiEOG091G05SY
PhylomeDBiQ09019
TreeFamiTF314961

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF00400 WD40, 2 hits
SMARTiView protein in SMART
SM00320 WD40, 4 hits
SUPFAMiSSF50978 SSF50978, 3 hits
PROSITEiView protein in PROSITE
PS50082 WD_REPEATS_2, 1 hit
PS50294 WD_REPEATS_REGION, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q09019-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAAGGAEGGS GPGAAMGDCA EIKSQFRTRE GFYKLLPGDG AARRSGPASA
60 70 80 90 100
QTPVPPQPPQ PPPGPASASG PGAAGPASSP PPAGPGPGPA LPAVRLSLVR
110 120 130 140 150
LGEPDSAGAG EPPATPAGLG SGGDRVCFNL GRELYFYPGC CRRGSQRSID
160 170 180 190 200
LNKPIDKRIY KGTQPTCHDF NQFTAATETI SLLVGFSAGQ VQYLDLIKKD
210 220 230 240 250
TSKLFNEERL IDKTKVTYLK WLPESESLFL ASHASGHLYL YNVSHPCASA
260 270 280 290 300
PPQYSLLKQG EGFSVYAAKS KAPRNPLAKW AVGEGPLNEF AFSPDGRHLA
310 320 330 340 350
CVSQDGCLRV FHFDSMLLRG LMKSYFGGLL CVCWSPDGRY VVTGGEDDLV
360 370 380 390 400
TVWSFTEGRV VARGHGHKSW VNAVAFDPYT TRAEEAATAA GADGERSGEE
410 420 430 440 450
EEEEPEAAGT GSAGGAPLSP LPKAGSITYR FGSAGQDTQF CLWDLTEDVL
460 470 480 490 500
YPHPPLARTR TLPGTPGTTP PAASSSRGGE PGPGPLPRSL SRSNSLPHPA
510 520 530 540 550
GGGKAGGPGV AAEPGTPFSI GRFATLTLQE RRDRGAEKEH KRYHSLGNIS
560 570 580 590 600
RGGSGGSGSG GEKPSGPVPR SRLDPAKVLG TALCPRIHEV PLLEPLVCKK
610 620 630 640 650
IAQERLTVLL FLEDCIITAC QEGLICTWAR PGKAFTDEET EAQTGEGSWP
660 670
RSPSKSVVEG ISSQPGNSPS GTVV
Length:674
Mass (Da):70,438
Last modified:November 25, 2008 - v3
Checksum:iDC93F6930915E928
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti306G → A in AAA35767 (PubMed:7905855).Curated1
Sequence conflicti378P → SL in AAA35767 (PubMed:7905855).Curated1
Sequence conflicti629A → P in AAA35767 (PubMed:7905855).Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC011530 Genomic DNA No translation available.
L19267 mRNA Translation: AAA35767.1
L08835 Genomic DNA Translation: AAC14447.1
CCDSiCCDS33054.1
PIRiA49364
RefSeqiNP_004934.1, NM_004943.1
UniGeneiHs.515474

Genome annotation databases

EnsembliENST00000270223; ENSP00000270223; ENSG00000185800
GeneIDi1762
KEGGihsa:1762
UCSCiuc002pdj.2 human

Similar proteinsi

Entry informationi

Entry nameiDMWD_HUMAN
AccessioniPrimary (citable) accession number: Q09019
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: November 25, 2008
Last modified: June 20, 2018
This is version 148 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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