ZIC1

ZIC1
Identifiers
Aliases	ZIC1 , ZIC, ZNF201, CRS6, Zic family member 1, BAIDCS
External IDs	OMIM: 600470 MGI: 106683 HomoloGene: 2562 GeneCards: ZIC1
Gene location (Human) Chr. Chromosome 3 (human) [1] Band 3q24 Start 147,393,422 bp [1] End 147,510,293 bp [1]
Gene location (Mouse) Chr. Chromosome 9 (mouse) [2] Band 9 E3.2|9 48.26 cM Start 91,240,111 bp [2] End 91,247,863 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in optic nerve pons endothelial cell trigeminal ganglion cerebellar vermis inferior olivary nucleus olfactory bulb internal globus pallidus inferior ganglion of vagus nerve corpus callosum Top expressed in habenula cerebellar vermis ciliary body lateral geniculate nucleus medial geniculate nucleus iris medial dorsal nucleus pineal gland suprachiasmatic nucleus pontine nuclei More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific metal ion binding RNA polymerase II cis-regulatory region sequence-specific DNA binding nucleic acid binding RNA polymerase II transcription regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component cytoplasm nucleus Biological process pattern specification process cell differentiation regulation of transcription, DNA-templated transcription by RNA polymerase II transcription, DNA-templated nervous system development positive regulation of transcription, DNA-templated multicellular organism development regulation of smoothened signaling pathway central nervous system development brain development inner ear morphogenesis spinal cord development positive regulation of protein import into nucleus positive regulation of transcription by RNA polymerase II adult walking behavior Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7545 22771 Ensembl ENSG00000152977 ENSMUSG00000032368 UniProt Q15915 P46684 RefSeq (mRNA) NM_003412 NM_009573 NM_001376941 RefSeq (protein) NP_003403 NP_033599 NP_001363870 Location (UCSC) Chr 3: 147.39 – 147.51 Mb Chr 9: 91.24 – 91.25 Mb PubMed search [3] [4]
Wikidata
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ZIC1 is a member of the Zinc finger of the cerebellum (ZIC) protein family. ^{[5] [6]}

ZIC1 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. ZIC1 is found in close genomic configuration in another member of this protein family, ZIC4. Correct function of these proteins is critical for early development, and as such mutations of the genes encoding these proteins is known to result in various congenital defects. For example, if function of both ZIC1 and ZIC4 is lost (which can occur via an interstitial deletion due to their adjacent location) then this may result in the Dandy–Walker malformation. ^[7]

Interactions

ZIC1 has been shown to interact with GLI1 ^[8] and GLI3. ^[8]

References

1. GRCh38: Ensembl release 89: ENSG00000152977 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000032368 - Ensembl, May 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.
5. 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.
6. "Entrez Gene: ZIC1 Zic family member 1 (odd-paired homolog, Drosophila)".
7. Grinberg I, Northrup H, Ardinger H, Prasad C, Dobyns WB, Millen KJ (October 2004). "Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation". Nat Genet. 36 (10): 1053–5. doi: 10.1038/ng1420 . PMID   15338008.
8. Koyabu, Y; Nakata K; Mizugishi K; Aruga J; Mikoshiba K (March 2001). "Physical and functional interactions between Zic and Gli proteins". J. Biol. Chem. United States. 276 (10): 6889–92. doi: 10.1074/jbc.C000773200 . ISSN   0021-9258. PMID   11238441.

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. hdl: 1885/65873 . PMID   23443491. S2CID   8660667.
• Bagutti C, Forro G, Ferralli J, et al. (2004). "The intracellular domain of teneurin-2 has a nuclear function and represses zic-1-mediated transcription". J. Cell Sci. 116 (Pt 14): 2957–66. doi:10.1242/jcs.00603. PMID   12783990.
• Pourebrahim R, Van Dam K, Bauters M, et al. (2007). "ZIC1 gene expression is controlled by DNA and histone methylation in mesenchymal proliferations". FEBS Lett. 581 (26): 5122–6. doi: 10.1016/j.febslet.2007.09.061 . PMID   17936758. S2CID   25349004.