DVL1

DVL1
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	1FSH, 1MC7, 2KAW, 3PZ8
Identifikatori
Aliasi	DVL1
Vanjski ID-jevi	OMIM: 601365 MGI: 94941 HomoloGene: 20926 GeneCards: DVL1
Lokacija gena (čovjek)
Hrom.	Hromosom 1 (čovjek)
Kraj	1,349,418 bp
Lokacija gena (miš)
Hrom.	Hromosom 4 (miš)
Kraj	155,943,760 bp
Ontologija gena
Molekularna funkcija	• beta-catenin binding; • GO:0005110 frizzled binding; • GO:0001948, GO:0016582 vezivanje za proteine; • vezivanje identičnih proteina; • vezivanje enzima; • protein kinase binding;
Ćelijska komponenta	• citoplazma; • citosol; • Wnt signalosome; • lateral plasma membrane; • membrana; • microtubule cytoskeleton; • growth cone; • ćelijska membrana; • sinapsa; • Akson; • soma; • dendrit; • neuron projection; • Mikrotubula; • clathrin-coated vesicle; • presynapse; • dendritična kičma; • GO:0097483, GO:0097481 postsynaptic density; • GO:0016023 citoplazmatska vezikula; • Schaffer collateral - CA1 synapse; • glutamatergic synapse;
Biološki proces	• regulation of protein phosphorylation; • GO:0033128 negative regulation of protein phosphorylation; • regulation of neurotransmitter levels; • positive regulation of protein phosphorylation; • GO:0007243 intracellular signal transduction; • axonogenesis; • negative regulation of protein kinase activity; • dendrite morphogenesis; • synapse organization; • protein stabilization; • Wnt-signalni put; • transcription by RNA polymerase II; • negative regulation of protein binding; • receptor clustering; • planar cell polarity pathway involved in neural tube closure; • axon guidance; • GO:0060469, GO:0009371 positive regulation of transcription, DNA-templated; • positive regulation of Wnt signaling pathway; • multicellular organism development; • Wnt signaling pathway, planar cell polarity pathway; • protein localization to microtubule; • neuromuscular junction development; • cochlea morphogenesis; • neural tube development; • cytoplasmic microtubule organization; • positive regulation of neuron projection development; • axon extension; • protein localization to nucleus; • canonical Wnt signaling pathway; • socijalno ponašanje; • skeletal muscle acetylcholine-gated channel clustering; • collateral sprouting; • convergent extension involved in neural plate elongation; • negative regulation of canonical Wnt signaling pathway; • GO:0010554 neurotransmitter secretion; • positive regulation of proteasomal ubiquitin-dependent protein catabolic process; • convergent extension involved in organogenesis; • prepulse inhibition; • positive regulation of canonical Wnt signaling pathway; • beta-catenin destruction complex disassembly; • dendritic spine morphogenesis; • positive regulation of excitatory postsynaptic potential; • presynapse assembly; • positive regulation of protein localization to presynapse; • non-canonical Wnt signaling pathway; • postsynapse organization; • positive regulation of neuron projection arborization; • regulation of synaptic vesicle exocytosis;
	Izvori:Amigo / QuickGO
Ortolozi
	1855
	13542
	ENSG00000107404
	ENSMUSG00000029071
	O14640
	P51141
	NM_004421; NM_181870; NM_182779; NM_001330311
	NM_010091; NM_001302342; NM_001356381
	NP_001317240; NP_004412
	NP_034221; NP_001343310
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Neuređeni homolog segmentne polarnosti proteina (DVL-1) jest protein koji je kod ljudi kodiran genom DVL1 sa hromosoma 1.^[5]^[6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 695 aminokiselina, a molekulska težina 75.187 Da.^[7]

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
MAETKIIYHM	DEEETPYLVK	LPVAPERVTL	ADFKNVLSNR	PVHAYKFFFK
SMDQDFGVVK	EEIFDDNAKL	PCFNGRVVSW	LVLAEGAHSD	AGSQGTDSHT
DLPPPLERTG	GIGDSRPPSF	HPNVASSRDG	MDNETGTESM	VSHRRERARR
RNREEAARTN	GHPRGDRRRD	VGLPPDSAST	ALSSELESSS	FVDSDEDGST
SRLSSSTEQS	TSSRLIRKHK	RRRRKQRLRQ	ADRASSFSSI	TDSTMSLNIV
TVTLNMERHH	FLGISIVGQS	NDRGDGGIYI	GSIMKGGAVA	ADGRIEPGDM
LLQVNDVNFE	NMSNDDAVRV	LREIVSQTGP	ISLTVAKCWD	PTPRSYFTVP
RADPVRPIDP	AAWLSHTAAL	TGALPRYGTS	PCSSAVTRTS	SSSLTSSVPG
APQLEEAPLT	VKSDMSAVVR	VMQLPDSGLE	IRDRMWLKIT	IANAVIGADV
VDWLYTHVEG	FKERREARKY	ASSLLKHGFL	RHTVNKITFS	EQCYYVFGDL
CSNLATLNLN	SGSSGTSDQD	TLAPLPHPAA	PWPLGQGYPY	QYPGPPPCFP
PAYQDPGFSY	GSGSTGSQQS	EGSKSSGSTR	SSRRAPGREK	ERRAAGAGGS
GSESDHTAPS	GVGSSWRERP	AGQLSRGSSP	RSQASATAPG	LPPPHPTTKA
YTVVGGPPGG	PPVRELAAVP	PELTGSRQSF	QKAMGNPCEF	FVDIM

Funkcija

DVL1, ljudski homolog Drosophila gena neuređenog proteina (dsh) kodira citoplazmatski fosfoprotein koji reguliše ćelijsku proliferaciju, djelujući kao molekula transduktora za razvojne procese, uključujući segmentaciju i neuroblastne specifikacije. DVL1 je gen kandidat za procese uključene u transformacije ćelia u neuroblastomu. Schwartz-Jampelov sindrom i Charcot-Marie-Toothova bolest tip 2A mapirani su u istu regiju kao DVL1. Fenotipovi ovih bolesti mogu biti u skladu sa defektima koji se mogu očekivati od aberantne ekspresije DVL gena tokom razvoja. Za ovaj gen su pronađene tri varijante transkripta koje kodiraju tri različite izoforme.^[6]

Interakcije

Pokazalo se da DVL1 ima interakcije sa:

AXIN1,^[8]^[9]
DVL3,^[10]
EPS8,^[11] i
Majke protiv dekapentaplegijskog homologa 3.^[12]

Također pogledajte

Neuređeni protein

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000107404 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000029071 - 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.
^ Pizzuti A, Amati F, Calabrese G, Mari A, Colosimo A, Silani V, Giardino L, Ratti A, Penso D, Calzà L, Palka G, Scarlato G, Novelli G, Dallapiccola B (Jan 1997). "cDNA characterization and chromosomal mapping of two human homologues of the Drosophila dishevelled polarity gene". Hum Mol Genet. 5 (7): 953–8. doi:10.1093/hmg/5.7.953. PMID 8817329.
^ ^a ^b "Entrez Gene: DVL1 dishevelled, dsh homolog 1 (Drosophila)".
^ "UniProt, O14640" (jezik: engleski). Pristupljeno 24. 11. 2021.
^ Li L, Yuan H, Weaver CD, Mao J, Farr GH, Sussman DJ, Jonkers J, Kimelman D, Wu D (Aug 1999). "Axin and Frat1 interact with dvl and GSK, bridging Dvl to GSK in Wnt-mediated regulation of LEF-1". EMBO J. 18 (15): 4233–40. doi:10.1093/emboj/18.15.4233. PMC 1171499. PMID 10428961.
^ Kim MJ, Chia IV, Costantini F (Nov 2008). "SUMOylation target sites at the C terminus protect Axin from ubiquitination and confer protein stability". FASEB J. 22 (11): 3785–94. doi:10.1096/fj.08-113910. PMC 2574027. PMID 18632848.
^ Kishida S, Yamamoto H, Hino S, Ikeda S, Kishida M, Kikuchi A (Jun 1999). "DIX domains of Dvl and axin are necessary for protein interactions and their ability to regulate beta-catenin stability". Mol. Cell. Biol. 19 (6): 4414–22. doi:10.1128/mcb.19.6.4414. PMC 104400. PMID 10330181.
^ Inobe M, Katsube Ki, Miyagoe Y, Nabeshima Yi, Takeda S (Dec 1999). "Identification of EPS8 as a Dvl1-associated molecule". Biochem. Biophys. Res. Commun. 266 (1): 216–21. doi:10.1006/bbrc.1999.1782. PMID 10581192.
^ Warner DR, Pisano MM, Roberts EA, Greene RM (Mar 2003). "Identification of three novel Smad binding proteins involved in cell polarity". FEBS Lett. 539 (1–3): 167–73. doi:10.1016/s0014-5793(03)00155-8. PMID 12650946.

Dopunska literatura

Wharton KA (2003). "Runnin' with the Dvl: proteins that associate with Dsh/Dvl and their significance to Wnt signal transduction". Dev. Biol. 253 (1): 1–17. doi:10.1006/dbio.2002.0869. PMID 12490194.
Klingensmith J, Nusse R, Perrimon N (1994). "The Drosophila segment polarity gene dishevelled encodes a novel protein required for response to the wingless signal". Genes Dev. 8 (1): 118–30. doi:10.1101/gad.8.1.118. PMID 8288125.
Pizzuti A, Novelli G, Mari A, Ratti A, Colosimo A, Amati F, Penso D, Sangiuolo F, Calabrese G, Palka G, Silani V, Gennarelli M, Mingarelli R, Scarlato G, Scambler P, Dallapiccola B (1996). "Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome". Am. J. Hum. Genet. 58 (4): 722–9. PMC 1914677. PMID 8644734.
Steitz SA, Tsang M, Sussman DJ (1997). "Wnt-mediated relocalization of dishevelled proteins". In Vitro Cell. Dev. Biol. Anim. 32 (7): 441–5. doi:10.1007/BF02723007. PMID 8856345. S2CID 20740333.
Semënov MV, Snyder M (1997). "Human dishevelled genes constitute a DHR-containing multigene family". Genomics. 42 (2): 302–10. doi:10.1006/geno.1997.4713. PMID 9192851.
Bui TD, Beier DR, Jonssen M, Smith K, Dorrington SM, Kaklamanis L, Kearney L, Regan R, Sussman DJ, Harris AL (1997). "cDNA cloning of a human dishevelled DVL-3 gene, mapping to 3q27, and expression in human breast and colon carcinomas". Biochem. Biophys. Res. Commun. 239 (2): 510–6. doi:10.1006/bbrc.1997.7500. PMID 9344861.
Ikeda S, Kishida S, Yamamoto H, Murai H, Koyama S, Kikuchi A (1998). "Axin, a negative regulator of the Wnt signaling pathway, forms a complex with GSK-3beta and beta-catenin and promotes GSK-3beta-dependent phosphorylation of beta-catenin". EMBO J. 17 (5): 1371–84. doi:10.1093/emboj/17.5.1371. PMC 1170485. PMID 9482734.
Kishida S, Yamamoto H, Hino S, Ikeda S, Kishida M, Kikuchi A (1999). "DIX domains of Dvl and axin are necessary for protein interactions and their ability to regulate beta-catenin stability". Mol. Cell. Biol. 19 (6): 4414–22. doi:10.1128/mcb.19.6.4414. PMC 104400. PMID 10330181.
Fagotto F, Jho Eh, Zeng L, Kurth T, Joos T, Kaufmann C, Costantini F (1999). "Domains of axin involved in protein-protein interactions, Wnt pathway inhibition, and intracellular localization". J. Cell Biol. 145 (4): 741–56. doi:10.1083/jcb.145.4.741. PMC 2133179. PMID 10330403.
Li L, Yuan H, Weaver CD, Mao J, Farr GH, Sussman DJ, Jonkers J, Kimelman D, Wu D (1999). "Axin and Frat1 interact with dvl and GSK, bridging Dvl to GSK in Wnt-mediated regulation of LEF-1". EMBO J. 18 (15): 4233–40. doi:10.1093/emboj/18.15.4233. PMC 1171499. PMID 10428961.
Strovel ET, Wu D, Sussman DJ (2000). "Protein phosphatase 2Calpha dephosphorylates axin and activates LEF-1-dependent transcription". J. Biol. Chem. 275 (4): 2399–403. doi:10.1074/jbc.275.4.2399. PMID 10644691.
Song DH, Sussman DJ, Seldin DC (2000). "Endogenous protein kinase CK2 participates in Wnt signaling in mammary epithelial cells". J. Biol. Chem. 275 (31): 23790–7. doi:10.1074/jbc.M909107199. PMID 10806215.
Hino S, Kishida S, Michiue T, Fukui A, Sakamoto I, Takada S, Asashima M, Kikuchi A (2001). "Inhibition of the Wnt signaling pathway by Idax, a novel Dvl-binding protein". Mol. Cell. Biol. 21 (1): 330–42. doi:10.1128/MCB.21.1.330-342.2001. PMC 88806. PMID 11113207.
Rubinfeld B, Tice DA, Polakis P (2001). "Axin-dependent phosphorylation of the adenomatous polyposis coli protein mediated by casein kinase 1epsilon". J. Biol. Chem. 276 (42): 39037–45. doi:10.1074/jbc.M105148200. PMID 11487578.
Chen W, Hu LA, Semenov MV, Yanagawa S, Kikuchi A, Lefkowitz RJ, Miller WE (2002). "beta-Arrestin1 modulates lymphoid enhancer factor transcriptional activity through interaction with phosphorylated dishevelled proteins". Proc. Natl. Acad. Sci. U.S.A. 98 (26): 14889–94. doi:10.1073/pnas.211572798. PMC 64954. PMID 11742073.
Habas R, Kato Y, He X (2002). "Wnt/Frizzled activation of Rho regulates vertebrate gastrulation and requires a novel Formin homology protein Daam1". Cell. 107 (7): 843–54. doi:10.1016/S0092-8674(01)00614-6. PMID 11779461. S2CID 16894557.
Russ C, Lovestone S, Powell JF (2002). "Identification of genomic organisation, sequence variants and analysis of the role of the human dishevelled 1 gene in late onset Alzheimer's disease". Mol. Psychiatry. 7 (1): 104–9. doi:10.1038/sj/mp/4000941. PMID 11803455.
Gao ZH, Seeling JM, Hill V, Yochum A, Virshup DM (2002). "Casein kinase I phosphorylates and destabilizes the beta-catenin degradation complex". Proc. Natl. Acad. Sci. U.S.A. 99 (3): 1182–7. Bibcode:2002PNAS...99.1182G. doi:10.1073/pnas.032468199. PMC 122164. PMID 11818547.

Vanjski linkovi

DVL1 on the Atlas of Genetics and Cytogenetics in Oncology and Haematology

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000107404 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000029071 - 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.

[pmid8817329-5] Pizzuti A, Amati F, Calabrese G, Mari A, Colosimo A, Silani V, Giardino L, Ratti A, Penso D, Calzà L, Palka G, Scarlato G, Novelli G, Dallapiccola B (Jan 1997). "cDNA characterization and chromosomal mapping of two human homologues of the Drosophila dishevelled polarity gene". Hum Mol Genet. 5 (7): 953–8. doi:10.1093/hmg/5.7.953. PMID 8817329.

[entrez-6] "Entrez Gene: DVL1 dishevelled, dsh homolog 1 (Drosophila)".

[UniProt-7] "UniProt, O14640" (jezik: engleski). Pristupljeno 24. 11. 2021.

[pmid10428961-8] Li L, Yuan H, Weaver CD, Mao J, Farr GH, Sussman DJ, Jonkers J, Kimelman D, Wu D (Aug 1999). "Axin and Frat1 interact with dvl and GSK, bridging Dvl to GSK in Wnt-mediated regulation of LEF-1". EMBO J. 18 (15): 4233–40. doi:10.1093/emboj/18.15.4233. PMC 1171499. PMID 10428961.

[pmid18632848-9] Kim MJ, Chia IV, Costantini F (Nov 2008). "SUMOylation target sites at the C terminus protect Axin from ubiquitination and confer protein stability". FASEB J. 22 (11): 3785–94. doi:10.1096/fj.08-113910. PMC 2574027. PMID 18632848.

[pmid10330181-10] Kishida S, Yamamoto H, Hino S, Ikeda S, Kishida M, Kikuchi A (Jun 1999). "DIX domains of Dvl and axin are necessary for protein interactions and their ability to regulate beta-catenin stability". Mol. Cell. Biol. 19 (6): 4414–22. doi:10.1128/mcb.19.6.4414. PMC 104400. PMID 10330181.

[pmid10581192-11] Inobe M, Katsube Ki, Miyagoe Y, Nabeshima Yi, Takeda S (Dec 1999). "Identification of EPS8 as a Dvl1-associated molecule". Biochem. Biophys. Res. Commun. 266 (1): 216–21. doi:10.1006/bbrc.1999.1782. PMID 10581192.

[pmid12650946-12] Warner DR, Pisano MM, Roberts EA, Greene RM (Mar 2003). "Identification of three novel Smad binding proteins involved in cell polarity". FEBS Lett. 539 (1–3): 167–73. doi:10.1016/s0014-5793(03)00155-8. PMID 12650946.

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