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Q09019

- DMWD_HUMAN

UniProt

Q09019 - DMWD_HUMAN

Protein

Dystrophia myotonica WD repeat-containing protein

Gene

DMWD

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 116 (01 Oct 2014)
      Sequence version 3 (25 Nov 2008)
      Previous versions | rss
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    Functioni

    Could have a regulatory function in meiosis.1 Publication

    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
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:2936. DMWD.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA27390.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 674673Dystrophia myotonica WD repeat-containing proteinPRO_0000050956Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ09019.
    PaxDbiQ09019.
    PRIDEiQ09019.

    PTM databases

    PhosphoSiteiQ09019.

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    ArrayExpressiQ09019.
    BgeeiQ09019.
    CleanExiHS_DMWD.
    GenevestigatoriQ09019.

    Interactioni

    Protein-protein interaction databases

    BioGridi108102. 36 interactions.
    IntActiQ09019. 37 interactions.
    MINTiMINT-1393924.
    STRINGi9606.ENSP00000270223.

    Structurei

    3D structure databases

    ProteinModelPortaliQ09019.
    SMRiQ09019. Positions 291-421.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati211 – 25141WD 1Add
    BLAST
    Repeati282 – 32140WD 2Add
    BLAST
    Repeati324 – 36340WD 3Add
    BLAST
    Repeati413 – 45341WD 4Add
    BLAST
    Repeati601 – 63838WD 5Add
    BLAST

    Sequence similaritiesi

    Contains 5 WD repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, WD repeat

    Phylogenomic databases

    eggNOGiCOG2319.
    HOGENOMiHOG000007484.
    HOVERGENiHBG011270.
    InParanoidiQ09019.
    OMAiNVEHPCG.
    PhylomeDBiQ09019.
    TreeFamiTF314961.

    Family and domain databases

    Gene3Di2.130.10.10. 4 hits.
    InterProiIPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR017986. WD40_repeat_dom.
    [Graphical view]
    PfamiPF00400. WD40. 3 hits.
    [Graphical view]
    SMARTiSM00320. WD40. 4 hits.
    [Graphical view]
    SUPFAMiSSF50978. SSF50978. 3 hits.
    PROSITEiPS50082. WD_REPEATS_2. 1 hit.
    PS50294. WD_REPEATS_REGION. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    Q09019-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAAGGAEGGS GPGAAMGDCA EIKSQFRTRE GFYKLLPGDG AARRSGPASA    50
    QTPVPPQPPQ PPPGPASASG PGAAGPASSP PPAGPGPGPA LPAVRLSLVR 100
    LGEPDSAGAG EPPATPAGLG SGGDRVCFNL GRELYFYPGC CRRGSQRSID 150
    LNKPIDKRIY KGTQPTCHDF NQFTAATETI SLLVGFSAGQ VQYLDLIKKD 200
    TSKLFNEERL IDKTKVTYLK WLPESESLFL ASHASGHLYL YNVSHPCASA 250
    PPQYSLLKQG EGFSVYAAKS KAPRNPLAKW AVGEGPLNEF AFSPDGRHLA 300
    CVSQDGCLRV FHFDSMLLRG LMKSYFGGLL CVCWSPDGRY VVTGGEDDLV 350
    TVWSFTEGRV VARGHGHKSW VNAVAFDPYT TRAEEAATAA GADGERSGEE 400
    EEEEPEAAGT GSAGGAPLSP LPKAGSITYR FGSAGQDTQF CLWDLTEDVL 450
    YPHPPLARTR TLPGTPGTTP PAASSSRGGE PGPGPLPRSL SRSNSLPHPA 500
    GGGKAGGPGV AAEPGTPFSI GRFATLTLQE RRDRGAEKEH KRYHSLGNIS 550
    RGGSGGSGSG GEKPSGPVPR SRLDPAKVLG TALCPRIHEV PLLEPLVCKK 600
    IAQERLTVLL FLEDCIITAC QEGLICTWAR PGKAFTDEET EAQTGEGSWP 650
    RSPSKSVVEG ISSQPGNSPS GTVV 674
    Length:674
    Mass (Da):70,438
    Last modified:November 25, 2008 - v3
    Checksum:iDC93F6930915E928
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti306 – 3061G → A in AAA35767. (PubMed:7905855)Curated
    Sequence conflicti378 – 3781P → SL in AAA35767. (PubMed:7905855)Curated
    Sequence conflicti629 – 6291A → P in AAA35767. (PubMed:7905855)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.1. human.

    Polymorphism databases

    DMDMi215274169.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC011530 Genomic DNA. No translation available.
    L19267 mRNA. Translation: AAA35767.1 .
    L08835 Genomic DNA. Translation: AAC14447.1 .
    CCDSi CCDS33054.1.
    PIRi A49364.
    RefSeqi NP_004934.1. NM_004943.1.
    UniGenei Hs.515474.

    3D structure databases

    ProteinModelPortali Q09019.
    SMRi Q09019. Positions 291-421.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108102. 36 interactions.
    IntActi Q09019. 37 interactions.
    MINTi MINT-1393924.
    STRINGi 9606.ENSP00000270223.

    PTM databases

    PhosphoSitei Q09019.

    Polymorphism databases

    DMDMi 215274169.

    Proteomic databases

    MaxQBi Q09019.
    PaxDbi Q09019.
    PRIDEi Q09019.

    Protocols and materials databases

    DNASUi 1762.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000270223 ; ENSP00000270223 ; ENSG00000185800 .
    GeneIDi 1762.
    KEGGi hsa:1762.
    UCSCi uc002pdj.1. human.

    Organism-specific databases

    CTDi 1762.
    GeneCardsi GC19M046286.
    H-InvDB HIX0202835.
    HGNCi HGNC:2936. DMWD.
    MIMi 609857. gene.
    neXtProti NX_Q09019.
    PharmGKBi PA27390.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2319.
    HOGENOMi HOG000007484.
    HOVERGENi HBG011270.
    InParanoidi Q09019.
    OMAi NVEHPCG.
    PhylomeDBi Q09019.
    TreeFami TF314961.

    Enzyme and pathway databases

    SignaLinki Q09019.

    Miscellaneous databases

    GeneWikii DMWD_(gene).
    GenomeRNAii 1762.
    NextBioi 7183.
    PROi Q09019.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q09019.
    Bgeei Q09019.
    CleanExi HS_DMWD.
    Genevestigatori Q09019.

    Family and domain databases

    Gene3Di 2.130.10.10. 4 hits.
    InterProi IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR017986. WD40_repeat_dom.
    [Graphical view ]
    Pfami PF00400. WD40. 3 hits.
    [Graphical view ]
    SMARTi SM00320. WD40. 4 hits.
    [Graphical view ]
    SUPFAMi SSF50978. SSF50978. 3 hits.
    PROSITEi PS50082. WD_REPEATS_2. 1 hit.
    PS50294. WD_REPEATS_REGION. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.
      , 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. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 123-674.
      Tissue: Brain.
    3. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 660-674, ROLE IN MYOTONIC DYSTROPHY.
    4. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiDMWD_HUMAN
    AccessioniPrimary (citable) accession number: Q09019
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: November 25, 2008
    Last modified: October 1, 2014
    This is version 116 of the entry and version 3 of the sequence. [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

    Miscellaneous

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

    Caution

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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 19
      Human chromosome 19: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3