DMWD_HUMAN
ID DMWD_HUMAN Reviewed; 674 AA.
AC Q09019;
DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
DT 25-NOV-2008, sequence version 3.
DT 03-AUG-2022, entry version 173.
DE RecName: Full=Dystrophia myotonica WD repeat-containing protein;
DE AltName: Full=Dystrophia myotonica-containing WD repeat motif protein;
DE AltName: Full=Protein 59;
DE AltName: Full=Protein DMR-N9;
GN Name=DMWD; Synonyms=DM9;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 123-674.
RC TISSUE=Brain;
RX PubMed=7905855; DOI=10.1016/s0888-7543(05)80372-6;
RA Shaw D.J., McCurrach M., Rundle S.A., Harley H.G., Crow S.R., Sohn R.,
RA Thirion J.-P., Hamshere M.G., Buckler A.J., Harper P.S., Housman D.E.,
RA Brook J.D.;
RT "Genomic organization and transcriptional units at the myotonic dystrophy
RT locus.";
RL Genomics 18:673-679(1993).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 660-674.
RX PubMed=8499920; DOI=10.1093/hmg/2.3.299;
RA Mahadevan M.S., Amemiya C., Jansen G., Sabourin L., Baird S., Neville C.E.,
RA Wormskamp N., Segers B., Batzer M., Lamerdin J., de Jong P.J., Wieringa B.,
RA Korneluk R.G.;
RT "Structure and genomic sequence of the myotonic dystrophy (DM kinase)
RT gene.";
RL Hum. Mol. Genet. 2:299-304(1993).
RN [4]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR
RP METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS SPECTROMETRY
RP [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-495, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
CC -!- SUBCELLULAR LOCATION: Perikaryon {ECO:0000250|UniProtKB:Q08274}. Cell
CC projection, dendrite {ECO:0000250|UniProtKB:Q08274}. Nucleus
CC {ECO:0000250|UniProtKB:Q08274}. Note=In neurons, shows punctate
CC expression throughout the cell body, nucleus and dendrites. Not
CC detected in axons. {ECO:0000250|UniProtKB:Q08274}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-16 is the initiator.
CC {ECO:0000305}.
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DR EMBL; AC011530; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; L19267; AAA35767.1; -; mRNA.
DR EMBL; L08835; AAC14447.1; -; Genomic_DNA.
DR CCDS; CCDS33054.1; -.
DR PIR; A49364; A49364.
DR RefSeq; NP_004934.1; NM_004943.1.
DR AlphaFoldDB; Q09019; -.
DR SMR; Q09019; -.
DR BioGRID; 108102; 83.
DR IntAct; Q09019; 59.
DR MINT; Q09019; -.
DR STRING; 9606.ENSP00000270223; -.
DR iPTMnet; Q09019; -.
DR PhosphoSitePlus; Q09019; -.
DR BioMuta; DMWD; -.
DR DMDM; 215274169; -.
DR EPD; Q09019; -.
DR jPOST; Q09019; -.
DR MassIVE; Q09019; -.
DR MaxQB; Q09019; -.
DR PaxDb; Q09019; -.
DR PeptideAtlas; Q09019; -.
DR PRIDE; Q09019; -.
DR ProteomicsDB; 58711; -.
DR Antibodypedia; 31398; 146 antibodies from 21 providers.
DR DNASU; 1762; -.
DR Ensembl; ENST00000270223.7; ENSP00000270223.5; ENSG00000185800.12.
DR GeneID; 1762; -.
DR KEGG; hsa:1762; -.
DR MANE-Select; ENST00000270223.7; ENSP00000270223.5; NM_004943.2; NP_004934.1.
DR UCSC; uc002pdj.2; human.
DR CTD; 1762; -.
DR DisGeNET; 1762; -.
DR GeneCards; DMWD; -.
DR HGNC; HGNC:2936; DMWD.
DR HPA; ENSG00000185800; Low tissue specificity.
DR MIM; 609857; gene.
DR neXtProt; NX_Q09019; -.
DR OpenTargets; ENSG00000185800; -.
DR PharmGKB; PA27390; -.
DR VEuPathDB; HostDB:ENSG00000185800; -.
DR eggNOG; KOG2394; Eukaryota.
DR GeneTree; ENSGT00390000007686; -.
DR InParanoid; Q09019; -.
DR OMA; LKWIPET; -.
DR OrthoDB; 907634at2759; -.
DR PhylomeDB; Q09019; -.
DR TreeFam; TF314961; -.
DR PathwayCommons; Q09019; -.
DR SignaLink; Q09019; -.
DR BioGRID-ORCS; 1762; 14 hits in 1076 CRISPR screens.
DR GeneWiki; DMWD_(gene); -.
DR GenomeRNAi; 1762; -.
DR Pharos; Q09019; Tbio.
DR PRO; PR:Q09019; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q09019; protein.
DR Bgee; ENSG00000185800; Expressed in apex of heart and 157 other tissues.
DR ExpressionAtlas; Q09019; baseline and differential.
DR Genevisible; Q09019; HS.
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:0007744|PubMed:22814378"
FT CHAIN 2..674
FT /note="Dystrophia myotonica WD repeat-containing protein"
FT /id="PRO_0000050956"
FT REPEAT 86..156
FT /note="WD 1"
FT REPEAT 157..202
FT /note="WD 2"
FT REPEAT 203..274
FT /note="WD 3"
FT REPEAT 275..316
FT /note="WD 4"
FT REPEAT 317..394
FT /note="WD 5"
FT REPEAT 395..444
FT /note="WD 6"
FT REGION 31..92
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 103..122
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 384..419
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 456..516
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 532..573
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 637..674
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 51..89
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 532..546
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 641..674
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 2
FT /note="N-acetylalanine"
FT /evidence="ECO:0007744|PubMed:22814378"
FT MOD_RES 495
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 551
FT /note="Omega-N-methylarginine"
FT /evidence="ECO:0000250|UniProtKB:Q08274"
FT CONFLICT 306
FT /note="G -> A (in Ref. 2; AAA35767)"
FT /evidence="ECO:0000305"
FT CONFLICT 378
FT /note="P -> SL (in Ref. 2; AAA35767)"
FT /evidence="ECO:0000305"
FT CONFLICT 629
FT /note="A -> P (in Ref. 2; AAA35767)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 674 AA; 70438 MW; DC93F6930915E928 CRC64;
MAAGGAEGGS GPGAAMGDCA EIKSQFRTRE GFYKLLPGDG AARRSGPASA QTPVPPQPPQ
PPPGPASASG PGAAGPASSP PPAGPGPGPA LPAVRLSLVR LGEPDSAGAG EPPATPAGLG
SGGDRVCFNL GRELYFYPGC CRRGSQRSID LNKPIDKRIY KGTQPTCHDF NQFTAATETI
SLLVGFSAGQ VQYLDLIKKD TSKLFNEERL IDKTKVTYLK WLPESESLFL ASHASGHLYL
YNVSHPCASA PPQYSLLKQG EGFSVYAAKS KAPRNPLAKW AVGEGPLNEF AFSPDGRHLA
CVSQDGCLRV FHFDSMLLRG LMKSYFGGLL CVCWSPDGRY VVTGGEDDLV TVWSFTEGRV
VARGHGHKSW VNAVAFDPYT TRAEEAATAA GADGERSGEE EEEEPEAAGT GSAGGAPLSP
LPKAGSITYR FGSAGQDTQF CLWDLTEDVL YPHPPLARTR TLPGTPGTTP PAASSSRGGE
PGPGPLPRSL SRSNSLPHPA GGGKAGGPGV AAEPGTPFSI GRFATLTLQE RRDRGAEKEH
KRYHSLGNIS RGGSGGSGSG GEKPSGPVPR SRLDPAKVLG TALCPRIHEV PLLEPLVCKK
IAQERLTVLL FLEDCIITAC QEGLICTWAR PGKAFTDEET EAQTGEGSWP RSPSKSVVEG
ISSQPGNSPS GTVV
