ZIC1
Domain
The C2H2-type 3, 4 and 5 zinc finger domains are necessary for transcription activation.
Function
Acts as a transcriptional activator. Involved in neurogenesis. Plays important roles in the early stage of organogenesis of the CNS, as well as during dorsal spinal cord development and maturation of the cerebellum. Involved in the spatial distribution of mossy fiber (MF) neurons within the pontine gray nucleus (PGN). Plays a role in the regulation of MF axon pathway choice. Promotes MF migration towards ipsilaterally-located cerebellar territories. May have a role in shear flow mechanotransduction in osteocytes. Retains nuclear GLI1 and GLI3 in the cytoplasm. Binds to the minimal GLI-consensus sequence 5'-TGGGTGGTC-3' (By similarity).
Involvement in disease
Craniosynostosis 6
CRS6
A form of craniosynostosis, a primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability.
None
The disease is caused by variants affecting the gene represented in this entry.
Structural brain anomalies with impaired intellectual development and craniosynostosis
BAIDCS
A disease characterized by microcephaly, agenesis of corpus callosum, abnormal conformation of the ventricles and posterior fossa, hypoplasia of both cerebellar hemispheres, colpocephaly, and partial absence of the cerebellar vermis with fusion of the cerebellar hemispheres. Intellectual development is moderately to severely impaired. Bicoronal synostosis, scoliosis, and tethered cord may be present.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the GLI C2H2-type zinc-finger protein family.
Tissue Specificity
CNS. A high level expression is seen in the cerebellum. Detected in the nuclei of the cerebellar granule cell lineage from the progenitor cells of the external germinal layer to the postmigrated cells of the internal granular layer. Detected in medulloblastoma (26/29 cases), but not present in all other tumors examined.
Cellular localization
- Nucleus
- Cytoplasm
- Localizes in the cytoplasm in presence of MDFIC overexpression.
Alternative names
ZIC, ZNF201, ZIC1, Zinc finger protein ZIC 1, Zinc finger protein 201, Zinc finger protein of the cerebellum 1