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{{Infobox_gene}}
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'''ZIC3''' is a member of the ''Zi''nc finger of the ''c''erebellum (ZIC) [[protein]] family.<ref name="pmid22964024">{{cite journal | vauthors = Ali RG, Bellchambers HM, Arkell RM | title = Zinc finger of the cerebellum (Zic): Transcription factors and co-factors | journal = Int J Biochem Cell Biol | volume =  44| issue = 11 | pages = 2065–8 |date=November 2012 | pmid = 22964024 | pmc =  | doi = 10.1016/j.biocel.2012.08.012}}</ref><ref name="entrez">{{cite web | title = Entrez Gene: ZIC3 Zic family member 3 heterotaxy 1 (odd-paired homolog, Drosophila)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7547| accessdate = }}</ref>
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ZIC3 is classified as a ZIC protein due to conservation of the five C2H2 zinc fingers, which enables the protein to interact with DNA and proteins. Correct function of this protein family in critical for early development, and as such mutations of the genes encoding these proteins is known to result in various congenital defects. For example, mutation of ZIC3 is associated with [[heterotaxy]],<ref name="pmid14681828">{{cite journal | vauthors = Ware SM, Peng J, Zhu L, Fernbach S, Colicos S, Casey B, Towbin J, Belmont JW | title = Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects | journal = Am J Hum Genet| volume =  74| issue = 1 | pages = 93–105 |date=January 2004 | pmid = 14681828 | pmc = 1181916 | doi = 10.1086/380998}}</ref> that is thought to occur due to the role of ZIC3 in initial left-right symmetry formation, which involves the maintaining redistributed Nodal after the asymmetry of the embryo is initially broken.<ref name="pmid16496285">{{cite journal | vauthors = Ware SM, Harutyunyan KG, Belmont JW | title = Heart defects in X-linked heterotaxy: evidence for a genetic interaction of Zic3 with the nodal signaling pathway | journal = Dev. Dyn.| volume = 235 | issue = 6 | pages = 1631–7 |date=January 2006 | pmid = 16496285 | pmc = | doi = 10.1002/dvdy.20719}}</ref> Mutation of ZIC3 is also associated with various heart defects, such as heart looping, however these are thought to represent a mild form of heterotaxy. Mouse based studies have linked defective ZIC3 with neural tube defects ([[spina bifida]]) and skeletal defects.<ref name="pmid11959836">{{cite journal | vauthors = Purandare SM, Ware SM, Kwan KM, Gebbia M, Bassi MT, Deng JM, Vogel H, Behringer RR, Belmont JW, Casey B | title = A complex syndrome of left-right axis, central nervous system and axial skeleton defects in Zic3 mutant mice | journal = Development| volume = 129 | issue = 9 | pages = 2293–302 |date=May 2002 | pmid = 11959836 | pmc = | doi = }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
ZIC3 is also of particular interest as it has been shown to be required for maintenance of embryonic stem cell [[pluripotency]].<ref name="pmid20872845">{{cite journal | vauthors = Lim LS, Hong FH, Kunarso G, Stanton LW | title = The pluripotency regulator Zic3 is a direct activator of the Nanog promoter in ESCs | journal = Stem Cells | volume = 28 | issue = 11 | pages = 1961–9 |date=November 2010 | pmid = 20872845 | pmc =  | doi = 10.1002/stem.527}}</ref>
{{GNF_Protein_box
| image =
| image_source = 
| PDB =
| Name = Zic family member 3 heterotaxy 1 (odd-paired homolog, Drosophila)
| HGNCid = 12874
| Symbol = ZIC3
| AltSymbols =; HTX; HTX1; ZNF203
| OMIM = 300265
| ECnumber = 
| Homologene = 55742
| MGIid = 106676
| GeneAtlas_image1 = PBB_GE_ZIC3_207197_at_tn.png
| Function = {{GNF_GO|id=GO:0003677 |text = DNA binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0008270 |text = zinc ion binding}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}}
| Component = {{GNF_GO|id=GO:0005622 |text = intracellular}} {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0001947 |text = heart looping}} {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0007368 |text = determination of left/right symmetry}} {{GNF_GO|id=GO:0007389 |text = pattern specification process}} {{GNF_GO|id=GO:0009952 |text = anterior/posterior pattern formation}} {{GNF_GO|id=GO:0045944 |text = positive regulation of transcription from RNA polymerase II promoter}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 7547
    | Hs_Ensembl = ENSG00000156925
    | Hs_RefseqProtein = NP_003404
    | Hs_RefseqmRNA = NM_003413
    | Hs_GenLoc_db =
    | Hs_GenLoc_chr = X
    | Hs_GenLoc_start = 136476012
    | Hs_GenLoc_end = 136487516
    | Hs_Uniprot = O60481
    | Mm_EntrezGene = 22773
    | Mm_Ensembl = ENSMUSG00000067860
    | Mm_RefseqmRNA = NM_009575
    | Mm_RefseqProtein = NP_033601
    | Mm_GenLoc_db =   
    | Mm_GenLoc_chr = X
    | Mm_GenLoc_start = 54377785
    | Mm_GenLoc_end = 54388518
    | Mm_Uniprot = Q3UYV1
  }}
}}
'''Zic family member 3 heterotaxy 1 (odd-paired homolog, Drosophila)''', also known as '''ZIC3''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: ZIC3 Zic family member 3 heterotaxy 1 (odd-paired homolog, Drosophila)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7547| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
==Involvement in Wnt signalling==
{{PBB_Summary
[[ZIC2]], another member of the ZIC family, has recently been found to interact with TCF7L2, enabling it to act as a Wnt/β-catenin signalling inhibitor.<ref name=pmid21908606>{{cite journal | vauthors = Pourebrahim R, Houtmeyers R, Ghogomu S, Janssens S, Thelie A, Tran HT, Langenberg T, Vleminckx K, Bellefroid E, Cassiman JJ, Tejpar S | title = Transcription factor Zic2 inhibits Wnt/β-catenin protein signaling| journal = J Biol Chem| volume = 286 | issue = 43 | pages = 37732–40 |date=October 2011 | pmid = 21908606 | pmc = 3199516  | doi = 10.1074/jbc.M111.242826}}</ref> Further experiments have indicated that human ZIC3 is also able to inhibit Wnt signalling and that the Zinc finger domains are absolutely critical for this role.<ref name=pmid23471918 >{{cite journal | vauthors = Ahmed JN, Ali RG, Warr N, Wilson HM, Bellchambers HM, Barratt KS, Thompson AJ, Arkell RM | title = A murine Zic3 transcript with a premature termination codon evades nonsense-mediated decay during axis formation| journal = Dis Model Mech| volume = 6 | issue = 3 | pages = 755–67 |date=May 2013 | pmid = 23471918 | pmc = 3634658 | doi = 10.1242/dmm.011668}}</ref> Such a role is of critical importance, as not only is correct Wnt signalling critical for early development,<ref name=pmid21228006 >{{cite journal | vauthors = Fossat N, Jones V, Khoo PL, Bogani D, Hardy A, Steiner K, Mukhopadhyay M, Westphal H, Nolan PM, Arkell R, Tam PP | title = Stringent requirement of a proper level of canonical WNT signalling activity for head formation in mouse embryo| journal = Development | volume = 138 | issue = 4 | pages = 667–76 |date=February 2011 | pmid = 21228006 | pmc = | doi = 10.1242/dev.052803}}</ref> Wnt signalling has also been found to be upregulated to several cancers.
| section_title =  
| summary_text = This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This nuclear protein probably functions as a transcription factor in early stages of left-right body axis formation. Mutations in this gene cause X-linked visceral heterotaxy, which includes congenital heart disease and left-right axis defects in organs.<ref name="entrez">{{cite web | title = Entrez Gene: ZIC3 Zic family member 3 heterotaxy 1 (odd-paired homolog, Drosophila)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7547| accessdate = }}</ref>
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Alonso S, Pierpont ME, Radtke W, ''et al.'' |title=Heterotaxia syndrome and autosomal dominant inheritance. |journal=Am. J. Med. Genet. |volume=56 |issue= 1 |pages= 12-5 |year= 1995 |pmid= 7747776 |doi= 10.1002/ajmg.1320560105 }}
*{{cite journal  | vauthors=Houtmeyers R, Souopgui J, Tejpar S, Arkell R |title=The ZIC gene family encodes multi-functional proteins essential for patterning and morphogenesis |journal=Cell Mol Life Sci |volume=70 |issue= 20 |pages= 3791–811 |year= 2013 |pmid= 23443491 |doi= 10.1007/s00018-013-1285-5}}
*{{cite journal  | author=Casey B, Devoto M, Jones KL, Ballabio A |title=Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1. |journal=Nat. Genet. |volume=5 |issue= 4 |pages= 403-7 |year= 1994 |pmid= 8298651 |doi= 10.1038/ng1293-403 }}
*{{cite journal  | vauthors=Bedard JE, Purnell JD, Ware SM |title=Nuclear import and export signals are essential for proper cellular trafficking and function of ZIC3 |journal=Hum. Mol. Genet. |volume=16 |issue= 2 |pages= 187–98 |year= 2007 |pmid= 17185387 |doi= 10.1093/hmg/ddl461 }}
*{{cite journal  | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791-806 |year= 1997 |pmid= 8889548 |doi=  }}
*{{cite journal   |vauthors=Zhu L, Harutyunyan KG, Peng JL, etal |title=Identification of a novel role of ZIC3 in regulating cardiac development |journal=Hum. Mol. Genet. |volume=16 |issue= 14 |pages= 1649–60 |year= 2007 |pmid= 17468179 |doi= 10.1093/hmg/ddm106 }}
*{{cite journal  | author=Gebbia M, Ferrero GB, Pilia G, ''et al.'' |title=X-linked situs abnormalities result from mutations in ZIC3. |journal=Nat. Genet. |volume=17 |issue= 3 |pages= 305-8 |year= 1997 |pmid= 9354794 |doi= 10.1038/ng1197-305 }}
*{{cite journal  | author=Klootwijk R, Franke B, van der Zee CE, ''et al.'' |title=A deletion encompassing Zic3 in bent tail, a mouse model for X-linked neural tube defects. |journal=Hum. Mol. Genet. |volume=9 |issue= 11 |pages= 1615-22 |year= 2000 |pmid= 10861288 |doi=  }}
*{{cite journal  | author=Hartley JL, Temple GF, Brasch MA |title=DNA cloning using in vitro site-specific recombination. |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788-95 |year= 2001 |pmid= 11076863 |doi=  }}
*{{cite journal  | author=Koyabu Y, Nakata K, Mizugishi K, ''et al.'' |title=Physical and functional interactions between Zic and Gli proteins. |journal=J. Biol. Chem. |volume=276 |issue= 10 |pages= 6889-92 |year= 2001 |pmid= 11238441 |doi= 10.1074/jbc.C000773200 }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | author=Weber JR, Sokol SY |title=Identification of a phylogenetically conserved activin-responsive enhancer in the Zic3 gene. |journal=Mech. Dev. |volume=120 |issue= 8 |pages= 955-64 |year= 2004 |pmid= 12963115 |doi=  }}
*{{cite journal  | author=Ware SM, Peng J, Zhu L, ''et al.'' |title=Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. |journal=Am. J. Hum. Genet. |volume=74 |issue= 1 |pages= 93-105 |year= 2004 |pmid= 14681828 |doi=  }}
*{{cite journal  | author=Zhang J, Jin Z, Bao ZZ |title=Disruption of gradient expression of Zic3 resulted in abnormal intra-retinal axon projection. |journal=Development |volume=131 |issue= 7 |pages= 1553-62 |year= 2004 |pmid= 14985256 |doi= 10.1242/dev.01041 }}
*{{cite journal  | author=Fritz B, Kunz J, Knudsen GP, ''et al.'' |title=Situs ambiguus in a female fetus with balanced (X;21) translocation--evidence for functional nullisomy of the ZIC3 gene? |journal=Eur. J. Hum. Genet. |volume=13 |issue= 1 |pages= 34-40 |year= 2005 |pmid= 15470371 |doi= 10.1038/sj.ejhg.5201213 }}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=Ross MT, Grafham DV, Coffey AJ, ''et al.'' |title=The DNA sequence of the human X chromosome. |journal=Nature |volume=434 |issue= 7031 |pages= 325-37 |year= 2005 |pmid= 15772651 |doi= 10.1038/nature03440 }}
*{{cite journal  | author=Bedard JE, Purnell JD, Ware SM |title=Nuclear import and export signals are essential for proper cellular trafficking and function of ZIC3. |journal=Hum. Mol. Genet. |volume=16 |issue= 2 |pages= 187-98 |year= 2007 |pmid= 17185387 |doi= 10.1093/hmg/ddl461 }}
*{{cite journal | author=Chhin B, Hatayama M, Bozon D, ''et al.'' |title=Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain. |journal=Hum. Mutat. |volume=28 |issue= 6 |pages= 563-70 |year= 2007 |pmid= 17295247 |doi= 10.1002/humu.20480 }}
*{{cite journal  | author=Zhu L, Harutyunyan KG, Peng JL, ''et al.'' |title=Identification of a novel role of ZIC3 in regulating cardiac development. |journal=Hum. Mol. Genet. |volume=16 |issue= 14 |pages= 1649-60 |year= 2007 |pmid= 17468179 |doi= 10.1093/hmg/ddm106 }}
}}
}}
{{refend}}
{{refend}}


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Latest revision as of 00:11, 6 September 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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ZIC3 is a member of the Zinc finger of the cerebellum (ZIC) protein family.[1][2]

ZIC3 is classified as a ZIC protein due to conservation of the five C2H2 zinc fingers, which enables the protein to interact with DNA and proteins. Correct function of this protein family in critical for early development, and as such mutations of the genes encoding these proteins is known to result in various congenital defects. For example, mutation of ZIC3 is associated with heterotaxy,[3] that is thought to occur due to the role of ZIC3 in initial left-right symmetry formation, which involves the maintaining redistributed Nodal after the asymmetry of the embryo is initially broken.[4] Mutation of ZIC3 is also associated with various heart defects, such as heart looping, however these are thought to represent a mild form of heterotaxy. Mouse based studies have linked defective ZIC3 with neural tube defects (spina bifida) and skeletal defects.[5]

ZIC3 is also of particular interest as it has been shown to be required for maintenance of embryonic stem cell pluripotency.[6]

Involvement in Wnt signalling

ZIC2, another member of the ZIC family, has recently been found to interact with TCF7L2, enabling it to act as a Wnt/β-catenin signalling inhibitor.[7] Further experiments have indicated that human ZIC3 is also able to inhibit Wnt signalling and that the Zinc finger domains are absolutely critical for this role.[8] Such a role is of critical importance, as not only is correct Wnt signalling critical for early development,[9] Wnt signalling has also been found to be upregulated to several cancers.

References

  1. ↑ Ali RG, Bellchambers HM, Arkell RM (November 2012). "Zinc finger of the cerebellum (Zic): Transcription factors and co-factors". Int J Biochem Cell Biol. 44 (11): 2065–8. doi:10.1016/j.biocel.2012.08.012. PMID 22964024.
  2. ↑ "Entrez Gene: ZIC3 Zic family member 3 heterotaxy 1 (odd-paired homolog, Drosophila)".
  3. ↑ Ware SM, Peng J, Zhu L, Fernbach S, Colicos S, Casey B, Towbin J, Belmont JW (January 2004). "Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects". Am J Hum Genet. 74 (1): 93–105. doi:10.1086/380998. PMC 1181916. PMID 14681828.
  4. ↑ Ware SM, Harutyunyan KG, Belmont JW (January 2006). "Heart defects in X-linked heterotaxy: evidence for a genetic interaction of Zic3 with the nodal signaling pathway". Dev. Dyn. 235 (6): 1631–7. doi:10.1002/dvdy.20719. PMID 16496285.
  5. ↑ Purandare SM, Ware SM, Kwan KM, Gebbia M, Bassi MT, Deng JM, Vogel H, Behringer RR, Belmont JW, Casey B (May 2002). "A complex syndrome of left-right axis, central nervous system and axial skeleton defects in Zic3 mutant mice". Development. 129 (9): 2293–302. PMID 11959836.
  6. ↑ Lim LS, Hong FH, Kunarso G, Stanton LW (November 2010). "The pluripotency regulator Zic3 is a direct activator of the Nanog promoter in ESCs". Stem Cells. 28 (11): 1961–9. doi:10.1002/stem.527. PMID 20872845.
  7. ↑ Pourebrahim R, Houtmeyers R, Ghogomu S, Janssens S, Thelie A, Tran HT, Langenberg T, Vleminckx K, Bellefroid E, Cassiman JJ, Tejpar S (October 2011). "Transcription factor Zic2 inhibits Wnt/β-catenin protein signaling". J Biol Chem. 286 (43): 37732–40. doi:10.1074/jbc.M111.242826. PMC 3199516. PMID 21908606.
  8. ↑ Ahmed JN, Ali RG, Warr N, Wilson HM, Bellchambers HM, Barratt KS, Thompson AJ, Arkell RM (May 2013). "A murine Zic3 transcript with a premature termination codon evades nonsense-mediated decay during axis formation". Dis Model Mech. 6 (3): 755–67. doi:10.1242/dmm.011668. PMC 3634658. PMID 23471918.
  9. ↑ Fossat N, Jones V, Khoo PL, Bogani D, Hardy A, Steiner K, Mukhopadhyay M, Westphal H, Nolan PM, Arkell R, Tam PP (February 2011). "Stringent requirement of a proper level of canonical WNT signalling activity for head formation in mouse embryo". Development. 138 (4): 667–76. doi:10.1242/dev.052803. PMID 21228006.

Further reading

  • Houtmeyers R, Souopgui J, Tejpar S, Arkell R (2013). "The ZIC gene family encodes multi-functional proteins essential for patterning and morphogenesis". Cell Mol Life Sci. 70 (20): 3791–811. doi:10.1007/s00018-013-1285-5. PMID 23443491.
  • Bedard JE, Purnell JD, Ware SM (2007). "Nuclear import and export signals are essential for proper cellular trafficking and function of ZIC3". Hum. Mol. Genet. 16 (2): 187–98. doi:10.1093/hmg/ddl461. PMID 17185387.
  • Zhu L, Harutyunyan KG, Peng JL, et al. (2007). "Identification of a novel role of ZIC3 in regulating cardiac development". Hum. Mol. Genet. 16 (14): 1649–60. doi:10.1093/hmg/ddm106. PMID 17468179.



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