DMWD_MOUSE
ID DMWD_MOUSE Reviewed; 665 AA.
AC Q08274; E9QLY4;
DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
DT 28-JUN-2011, sequence version 3.
DT 03-AUG-2022, entry version 153.
DE RecName: Full=Dystrophia myotonica WD repeat-containing protein;
DE AltName: Full=Dystrophia myotonica-containing WD repeat motif protein;
DE AltName: Full=Protein DMR-N9;
GN Name=Dmwd; Synonyms=Dm9;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY, AND DEVELOPMENTAL
RP STAGE.
RC STRAIN=129/Sv; TISSUE=Brain;
RX PubMed=7633444; DOI=10.1093/hmg/4.5.843;
RA Jansen G., Baechner D., Coerwinkel M., Wormskamp N., Hameister H.,
RA Wieringa B.;
RT "Structural organization and developmental expression pattern of the mouse
RT WD-repeat gene DMR-N9 immediately upstream of the myotonic dystrophy
RT locus.";
RL Hum. Mol. Genet. 4:843-852(1995).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 98-665, AND TISSUE SPECIFICITY.
RC STRAIN=129; TISSUE=Brain;
RX PubMed=1302022; DOI=10.1038/ng0792-261;
RA Jansen G., Mahadevan M.S., Amemiya C., Wormskamp N., Segers B.,
RA Hendriks W., O'Hoy K., Baird S., Sabourin L., Lennon G., Jap P.L., Iles D.,
RA Coerwinkel M., Hofker M., Carrano A.V., de Jong P.J., Korneluk R.G.,
RA Wieringa B.;
RT "Characterization of the myotonic dystrophy region predicts multiple
RT protein isoform-encoding mRNAs.";
RL Nat. Genet. 1:261-266(1992).
RN [4]
RP SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
RX PubMed=12691844; DOI=10.1016/s0006-8993(03)02430-2;
RA Westerlaken J.H., Van der Zee C.E., Peters W., Wieringa B.;
RT "The DMWD protein from the myotonic dystrophy (DM1) gene region is
RT developmentally regulated and is present most prominently in synapse-dense
RT brain areas.";
RL Brain Res. 971:116-127(2003).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Brain, Lung, and Spleen;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
RN [6]
RP METHYLATION [LARGE SCALE ANALYSIS] AT ARG-543, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Brain;
RX PubMed=24129315; DOI=10.1074/mcp.o113.027870;
RA Guo A., Gu H., Zhou J., Mulhern D., Wang Y., Lee K.A., Yang V., Aguiar M.,
RA Kornhauser J., Jia X., Ren J., Beausoleil S.A., Silva J.C., Vemulapalli V.,
RA Bedford M.T., Comb M.J.;
RT "Immunoaffinity enrichment and mass spectrometry analysis of protein
RT methylation.";
RL Mol. Cell. Proteomics 13:372-387(2014).
CC -!- SUBCELLULAR LOCATION: Perikaryon {ECO:0000269|PubMed:12691844}. Cell
CC projection, dendrite {ECO:0000269|PubMed:12691844}. Nucleus
CC {ECO:0000269|PubMed:12691844}. Note=In neurons, shows punctate
CC expression throughout the cell body, nucleus and dendrites. Not
CC detected in axons. {ECO:0000269|PubMed:12691844}.
CC -!- TISSUE SPECIFICITY: Widely expressed in brain where it localizes to the
CC olfactory bulb, forebrain, thalamus, hippocampus, cerebellum, cortex
CC and hypothalamus (at protein level) (PubMed:12691844). Expression seems
CC to be particularly strong in areas of high synaptic density such as the
CC glomerular layer of the olfactory bulb, and mossy fiber terminal fields
CC of the hippocampus (at protein level) (PubMed:12691844). Expressed in
CC retina, with strongest expression in the external and internal
CC plexiform layers (at protein level) (PubMed:12691844). Strongly
CC expressed in brain and testis (PubMed:7633444, PubMed:1302022). Also
CC detected at lower levels in heart, kidney, liver, lung, ovary, uterus,
CC bladder and skeletal muscle (PubMed:7633444, PubMed:1302022). In
CC testis, expression seems to be restricted to secondary spermatocytes
CC (PubMed:1302022). {ECO:0000269|PubMed:12691844,
CC ECO:0000269|PubMed:1302022, ECO:0000269|PubMed:7633444}.
CC -!- DEVELOPMENTAL STAGE: In brain, shows increasing expression levels from
CC postnatal day 7 onwards reaching peak levels by postnatal day 21 (at
CC protein level) (PubMed:12691844). Expression is seen very early in
CC embryogenesis, 9.5 dpc in all parts of the embryo (PubMed:7633444).
CC Mid-gestation embryos (14.5 dpc) show high expression in all neural
CC tissues such as telencephalon, retina and spinal cord (PubMed:7633444).
CC In the 16.5 day old embryo high expression is seen in the neural
CC tissues, like telencephalon and mesencephalon and in the non-neural
CC tissues, such as muscle tissues in the tongue and around the ribs
CC (PubMed:7633444). {ECO:0000269|PubMed:12691844,
CC ECO:0000269|PubMed:7633444}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-16 is the initiator.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAA86112.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; Z38011; CAA86112.1; ALT_INIT; Genomic_DNA.
DR EMBL; Z38012; CAA86112.1; JOINED; Genomic_DNA.
DR EMBL; Z38013; CAA86112.1; JOINED; Genomic_DNA.
DR EMBL; Z38015; CAA86112.1; JOINED; Genomic_DNA.
DR EMBL; AC170864; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; S60312; AAC60663.1; -; mRNA.
DR CCDS; CCDS20888.2; -.
DR PIR; I58106; I58106.
DR RefSeq; NP_034188.2; NM_010058.2.
DR AlphaFoldDB; Q08274; -.
DR SMR; Q08274; -.
DR BioGRID; 199243; 10.
DR IntAct; Q08274; 2.
DR STRING; 10090.ENSMUSP00000032570; -.
DR iPTMnet; Q08274; -.
DR PhosphoSitePlus; Q08274; -.
DR MaxQB; Q08274; -.
DR PaxDb; Q08274; -.
DR PRIDE; Q08274; -.
DR ProteomicsDB; 279736; -.
DR Antibodypedia; 31398; 146 antibodies from 21 providers.
DR DNASU; 13401; -.
DR Ensembl; ENSMUST00000032570; ENSMUSP00000032570; ENSMUSG00000030410.
DR GeneID; 13401; -.
DR KEGG; mmu:13401; -.
DR UCSC; uc009fkl.2; mouse.
DR CTD; 1762; -.
DR MGI; MGI:94907; Dmwd.
DR VEuPathDB; HostDB:ENSMUSG00000030410; -.
DR eggNOG; KOG2394; Eukaryota.
DR GeneTree; ENSGT00390000007686; -.
DR InParanoid; Q08274; -.
DR OMA; LKWIPET; -.
DR OrthoDB; 907634at2759; -.
DR PhylomeDB; Q08274; -.
DR TreeFam; TF314961; -.
DR BioGRID-ORCS; 13401; 2 hits in 71 CRISPR screens.
DR PRO; PR:Q08274; -.
DR Proteomes; UP000000589; Chromosome 7.
DR RNAct; Q08274; protein.
DR Bgee; ENSMUSG00000030410; Expressed in rostral migratory stream and 237 other tissues.
DR ExpressionAtlas; Q08274; baseline and differential.
DR Genevisible; Q08274; MM.
DR GO; GO:0030425; C:dendrite; IEA:UniProtKB-SubCell.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0043204; C:perikaryon; IEA:UniProtKB-SubCell.
DR Gene3D; 2.130.10.10; -; 1.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR Pfam; PF00400; WD40; 2.
DR SMART; SM00320; WD40; 4.
DR SUPFAM; SSF50978; SSF50978; 1.
DR PROSITE; PS50082; WD_REPEATS_2; 1.
DR PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE 1: Evidence at protein level;
KW Acetylation; Cell projection; Methylation; Nucleus; Phosphoprotein;
KW Reference proteome; Repeat; WD repeat.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0000250|UniProtKB:Q09019"
FT CHAIN 2..665
FT /note="Dystrophia myotonica WD repeat-containing protein"
FT /id="PRO_0000050957"
FT REPEAT 85..153
FT /note="WD 1"
FT REPEAT 154..199
FT /note="WD 2"
FT REPEAT 200..271
FT /note="WD 3"
FT REPEAT 272..313
FT /note="WD 4"
FT REPEAT 314..390
FT /note="WD 5"
FT REPEAT 391..436
FT /note="WD 6"
FT REGION 1..91
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 100..119
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 380..413
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 446..506
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 524..564
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 628..665
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 50..88
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 524..538
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 542..557
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 632..665
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 2
FT /note="N-acetylalanine"
FT /evidence="ECO:0000250|UniProtKB:Q09019"
FT MOD_RES 487
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q09019"
FT MOD_RES 543
FT /note="Omega-N-methylarginine"
FT /evidence="ECO:0007744|PubMed:24129315"
FT CONFLICT 501
FT /note="S -> N (in Ref. 1; CAA86112 and 3; AAC60663)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 665 AA; 69816 MW; AD83B261627F335B CRC64;
MAAGGAEGGP GPSAAMGDCA EIKSQFRTRE GFYKLLPGDA TRRSGPTSAQ TPAPPQPTQP
PPGPAAASGP GAAGPASSPP PAGPGPGPAL PAVRLSLVRL GDPDGAGEPP STPSGLGAGG
DRVCFNLGRE LYFYPGCCRS GSQRSIDLNK PIDKRIYKGT QPTCHDFNQF TAATETISLL
VGFSAGQVQY LDLIKKDTSK LFNEERLIDK TKVTYLKWLP ESESLFLASH ASGHLYLYNV
SHPCTSTPPQ YSLLKQGEGF AVYAAKSKAP RNPLAKWAVG EGPLNEFAFS PDGRHLACVS
QDGCLRVFHF DSMLLRGLMK SYFGGLLCVC WSPDGRYVVT GGEDDLVTVW SFTEGRVVAR
GHGHKSWVNA VAFDPYTTRA EEAASASADG DPSGEEEEPE VTSSDTGAPV SPLPKAGSIT
YRFGSAGQDT QFCLWDLTED VLSPHPSLAR TRTLPGTPGA TPPASGSSRA GETGAGPLPR
SLSRSNSLPH PAGGGKAGGP SASMEPGIPF SIGRFATLTL QERRDRGAEK EHKRYHSLGN
ISRGGSGGNS SNDKLSGPAP RSRLDPAKVL GTALCPRIHE VPLLEPLVCK KIAQERLTVL
LFLEDCIITA CQEGLICTWA RPGKAFTDEE TEAQAGQASW PRSPSKSVVE GISSQPGSSP
SGTVV
