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Q09019

- DMWD_HUMAN

UniProt

Q09019 - DMWD_HUMAN

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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

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

BgeeiQ09019.
CleanExiHS_DMWD.
ExpressionAtlasiQ09019. baseline and differential.
GenevestigatoriQ09019.

Interactioni

Protein-protein interaction databases

BioGridi108102. 43 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.
GeneTreeiENSGT00390000007686.
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

        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)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:
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.1. human.

Polymorphism databases

DMDMi215274169.

Cross-referencesi

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 .
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. 43 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.
GeneTreei ENSGT00390000007686.
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

Bgeei Q09019.
CleanExi HS_DMWD.
ExpressionAtlasi Q09019. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 117 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