ZNF423 - zinc finger protein 423 (human)
Gene
Symbol
Taxonomy
Dates
- Create:2016-09-14
- Modify:2025-01-17
Description
The protein encoded by the ZNF423 gene is a nuclear protein that belongs to the family of Kruppel-like C2H2 zinc finger proteins. It functions as a DNA-binding transcription factor by using distinct zinc fingers in different signaling pathways. Thus, it is thought that this gene may have multiple roles in signal transduction during development. Mutations in this gene are associated with nephronophthisis-14 and Joubert syndrome-19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2012]
Enables sequence-specific DNA binding activity. Involved in negative regulation of DNA-templated transcription and positive regulation of DNA-templated transcription. Acts upstream of or within protein localization to cilium. Located in nucleoplasm. Implicated in nephronophthisis 14.
- Ebfaz
- JBTS19
- NPHP14
- OAZ
- Roaz
- ZFP423
- Zfp104
- hOAZ
- OLF-1/EBF associated zinc finger
- Smad- and Olf-interacting zinc finger protein
- early B-cell factor associated zinc finger protein
- olf1/EBF-associated zinc finger protein
Transcription factor that can both act as an activator or a repressor depending on the context. Plays a central role in BMP signaling and olfactory neurogenesis. Associates with SMADs in response to BMP2 leading to activate transcription of BMP target genes. Acts as a transcriptional repressor via its interaction with EBF1, a transcription factor involved in terminal olfactory receptor neurons differentiation; this interaction preventing EBF1 to bind DNA and activate olfactory-specific genes. Involved in olfactory neurogenesis by participating in a developmental switch that regulates the transition from differentiation to maturation in olfactory receptor neurons. Controls proliferation and differentiation of neural precursors in cerebellar vermis formation.
Isoform
UniProt ID
RefSeq Accession
Highly accurate protein structure prediction with AlphaFold. Nature. 2021 Aug;596(7873):583-589. DOI:10.1038/s41586-021-03819-2. PMID:34265844; PMCID:PMC8371605
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