ZIC1

Protein-coding gene in the species Homo sapiens

ZIC1
Identifiers
AliasesZIC1, ZIC, ZNF201, CRS6, Zic family member 1, BAIDCS
External IDsOMIM: 600470; MGI: 106683; HomoloGene: 2562; GeneCards: ZIC1; OMA:ZIC1 - orthologs
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for ZIC1
Genomic location for ZIC1
Band3q24Start147,393,422 bp[1]
End147,510,293 bp[1]
Gene location (Mouse)
Chromosome 9 (mouse)
Chr.Chromosome 9 (mouse)[2]
Chromosome 9 (mouse)
Genomic location for ZIC1
Genomic location for ZIC1
Band9 E3.2|9 48.26 cMStart91,240,111 bp[2]
End91,247,863 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 9: 91.24 – 91.25 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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. ^ a b c GRCh38: Ensembl release 89: ENSG00000152977 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b Koyabu Y, Nakata K, Mizugishi K, Aruga J, Mikoshiba K (March 2001). "Physical and functional interactions between Zic and Gli proteins". J. Biol. Chem. 276 (10). United States: 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. 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.


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