DMWD

DMWD
Identifikatori
Aliasi	DMWD
Vanjski ID-jevi	OMIM: 609857 MGI: 94907 HomoloGene: 22559 GeneCards: DMWD
Lokacija gena (čovjek)
Hrom.	Hromosom 19 (čovjek)
Kraj	45,792,845 bp
Lokacija gena (miš)
Hrom.	Hromosom 7 (miš)
Kraj	18,816,701 bp
Obrazac RNK ekspresije
	; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• molekularna funkcija;
Ćelijska komponenta	• jedro; • dendrit; • projekcija ćelije; • perikaryon; • ćelijska komponenta;
Biološki proces	• protein deubiquitination;
	Izvori:Amigo / QuickGO
Ortolozi
	1762
	13401
	ENSG00000185800
	ENSMUSG00000030410
	Q09019
	Q08274
	NM_004943
	NM_010058; NM_001374607
	NP_004934
	NP_034188; NP_001361536
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Protein miotonusne distrofije WD sa ponavljanjem je protein joji je kod ljudi kodiran genom DMWD.^[5]^[6]

Aminokiselinska sekvenca

Simboli

C: Cistein
D: Asparaginska kiselina
E: Glutaminska kiselina
F: Fenilalanin
G: Glicin
H: Histidin
I: Izoleucin
K: Lizin
L: Leucin
M: Metionin
N: Asparagin
P: Prolin
Q: Glutamin
R: Arginin
S: Serin
T: Treonin
V: Valin
W: Triptofan
Y: Tirozin

10	20	30	40	50
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

Reference[uredi | uredi izvor]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000185800 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000030410 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Jansen G, Mahadevan M, Amemiya C, Wormskamp N, Segers B, Hendriks W, O'Hoy K, Baird S, Sabourin L, Lennon G, et al. (Jun 1993). "Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs". Nat Genet. 1 (4): 261–6. doi:10.1038/ng0792-261. PMID 1302022. S2CID 26072532.
^ "Entrez Gene: DMWD dystrophia myotonica, WD repeat containing".

Dopunska literatura[uredi | uredi izvor]

Groenen P, Wieringa B (1999). "Expanding complexity in myotonic dystrophy". BioEssays. 20 (11): 901–12. doi:10.1002/(SICI)1521-1878(199811)20:11<901::AID-BIES5>3.0.CO;2-0. PMID 9872056.
Wansink DG, Wieringa B (2004). "Transgenic mouse models for myotonic dystrophy type 1 (DM1)". Cytogenet. Genome Res. 100 (1–4): 230–42. doi:10.1159/000072859. PMID 14526185. S2CID 9981696.
Jansen G, Bächner D, Coerwinkel M, et al. (1995). "Structural organization and developmental expression pattern of the mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic dystrophy locus". Hum. Mol. Genet. 4 (5): 843–52. doi:10.1093/hmg/4.5.843. PMID 7633444.
Shaw DJ, McCurrach M, Rundle SA, et al. (1994). "Genomic organization and transcriptional units at the myotonic dystrophy locus". Genomics. 18 (3): 673–9. doi:10.1016/S0888-7543(05)80372-6. PMID 7905855.
Mahadevan MS, Amemiya C, Jansen G, et al. (1993). "Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene". Hum. Mol. Genet. 2 (3): 299–304. doi:10.1093/hmg/2.3.299. PMID 8499920.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
Alwazzan M, Newman E, Hamshere MG, Brook JD (1999). "Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat". Hum. Mol. Genet. 8 (8): 1491–7. doi:10.1093/hmg/8.8.1491. PMID 10400997.
Eriksson M, Hedberg B, Carey N, Ansved T (2001). "Decreased DMPK transcript levels in myotonic dystrophy 1 type IIA muscle fibers". Biochem. Biophys. Res. Commun. 286 (5): 1177–82. doi:10.1006/bbrc.2001.5516. PMID 11527424.
Frisch R, Singleton KR, Moses PA, et al. (2001). "Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy". Mol. Genet. Metab. 74 (1–2): 281–91. doi:10.1006/mgme.2001.3229. PMID 11592825.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Grimwood J, Gordon LA, Olsen A, et al. (2004). "The DNA sequence and biology of human chromosome 19". Nature. 428 (6982): 529–35. doi:10.1038/nature02399. PMID 15057824.
Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000185800 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000030410 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid1302022-5] Jansen G, Mahadevan M, Amemiya C, Wormskamp N, Segers B, Hendriks W, O'Hoy K, Baird S, Sabourin L, Lennon G, et al. (Jun 1993). "Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs". Nat Genet. 1 (4): 261–6. doi:10.1038/ng0792-261. PMID 1302022. S2CID 26072532.

[entrez-6] "Entrez Gene: DMWD dystrophia myotonica, WD repeat containing".

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