ZIC1

ZIC1
Identifiers
Aliases	ZIC1, ZIC, ZNF201, CRS6, Zic family member 1, BAIDCS
External IDs	OMIM: 600470; MGI: 106683; HomoloGene: 2562; GeneCards: ZIC1; OMA:ZIC1 - orthologs
Gene location (Human) Chr. Chromosome 3 (human) Band 3q24 Start 147,393,422 bp End 147,510,293 bp
Gene location (Mouse) Chr. Chromosome 9 (mouse) Band 9 E3.2|9 48.26 cM Start 91,240,111 bp End 91,247,863 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in paraflocculus of cerebellum optic nerve right hemisphere of cerebellum pons Epithelium of choroid plexus endothelial cell lateral nuclear group of thalamus dorsal motor nucleus of vagus nerve trigeminal ganglion cerebellar vermis Top expressed in habenula cerebellar vermis lobe of cerebellum lateral septal nucleus ciliary body lateral geniculate nucleus medial geniculate nucleus iris medial dorsal nucleus pineal gland 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
Wikidata
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ZIC1 is a member of the Zinc finger of the cerebellum (ZIC) protein family.

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.

Interactions

ZIC1 has been shown to interact with GLI1 and GLI3.

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. S2CID 30713.
• 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.