Human Gene ZNF423 (ENST00000561648.5) from GENCODE V44
Description: Homo sapiens zinc finger protein 423 (ZNF423), transcript variant 1, mRNA. (from RefSeq NM_015069) RefSeq Summary (NM_015069): The protein encoded by this 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]. Gencode Transcript: ENST00000561648.5 Gencode Gene: ENSG00000102935.12 Transcript (Including UTRs) Position: hg38 chr16:49,487,524-49,827,010 Size: 339,487 Total Exon Count: 9 Strand: - Coding Region Position: hg38 chr16:49,491,275-49,822,685 Size: 331,411 Coding Exon Count: 8
ID:ZN423_HUMAN DESCRIPTION: RecName: Full=Zinc finger protein 423; AltName: Full=Olf1/EBF-associated zinc finger protein; Short=hOAZ; AltName: Full=Smad- and Olf-interacting zinc finger protein; FUNCTION: 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. SUBUNIT: Homodimer (By similarity). Interacts with EBF1 (By similarity). Interacts with SMAD1 and SMAD4. Interacts with PARP1. Interacts with CEP290. INTERACTION: P10276:RARA; NbExp=2; IntAct=EBI-950016, EBI-413374; SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Expressed in brain, lung, skeletal muscle, heart, pancreas and kidney but not liver or placenta. Also expressed in aorta, ovary, pituitary, small intestine, fetal brain, fetal kidney and, within the adult brain, in the substantia nigra, medulla, amygdala, thalamus and cerebellum. DOMAIN: Uses different DNA- and protein-binding zinc fingers to regulate the distinct BMP-Smad and Olf signaling pathways. C2H2- type zinc fingers 14-19 mediate the interaction with SMAD1 and SMAD4, while zinc fingers 28-30 mediate the interaction with EBF1. zinc fingers 2-8 bind the 5'-CCGCCC-3' DNA sequence in concert with EBF1, while zinc fingers 9-13 bind BMP target gene promoters in concert with SMADs. DISEASE: Note=Defects in ZNF423 can be a cause of nephronophthisis-related ciliopathies (NPHP-RC), a group of recessive diseases that affect kidney, retina and brain. ZNF423 mutations have been found in patients with nephronophthisis, cerebellar vermis hypoplasia and situs inversus, and Joubert syndrome. SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein family. SIMILARITY: Contains 30 C2H2-type zinc fingers.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q2M1K9
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0003676 nucleic acid binding GO:0003677 DNA binding GO:0005515 protein binding GO:0046872 metal ion binding
Biological Process: GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0007219 Notch signaling pathway GO:0007275 multicellular organism development GO:0007399 nervous system development GO:0030154 cell differentiation GO:0030513 positive regulation of BMP signaling pathway GO:0045892 negative regulation of transcription, DNA-templated GO:0045893 positive regulation of transcription, DNA-templated
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