ZNF423

ZNF423
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2MDG
Identifiers
Aliases	ZNF423 , Ebfaz, JBTS19, NPHP14, OAZ, Roaz, ZFP423, Zfp104, hOAZ, zinc finger protein 423
External IDs	OMIM: 604557; MGI: 1891217; HomoloGene: 9010; GeneCards: ZNF423; OMA:ZNF423 - orthologs
Gene location (Human) Chr. Chromosome 16 (human) [1] Band 16q12.1 Start 49,487,524 bp [1] End 49,857,919 bp [1]
Gene location (Mouse) Chr. Chromosome 8 (mouse) [2] Band 8|8 C3 Start 88,388,438 bp [2] End 88,686,223 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Skeletal muscle tissue of biceps brachii cartilage tissue tail of epididymis ganglionic eminence skin of hip Skeletal muscle tissue of rectus abdominis optic nerve vastus lateralis muscle buccal mucosa cell caput epididymis Top expressed in tail of embryo genital tubercle medial dorsal nucleus dorsomedial hypothalamic nucleus zygote lateral septal nucleus lateral geniculate nucleus vestibular sensory epithelium secondary oocyte ventricular zone More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding protein binding metal ion binding nucleic acid binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity Cellular component nucleus nucleoplasm Biological process Notch signaling pathway positive regulation of transcription, DNA-templated multicellular organism development cell differentiation negative regulation of transcription, DNA-templated regulation of transcription, DNA-templated transcription, DNA-templated nervous system development positive regulation of BMP signaling pathway negative regulation of cold-induced thermogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23090 94187 Ensembl ENSG00000102935 ENSMUSG00000045333 UniProt Q2M1K9 Q80TS5 RefSeq (mRNA) NM_001271620 NM_015069 NM_001330533 NM_001379286 NM_033327 NM_001310520 RefSeq (protein) NP_001258549 NP_001317462 NP_055884 NP_001366215 NP_001297449 NP_201584 Location (UCSC) Chr 16: 49.49 – 49.86 Mb Chr 8: 88.39 – 88.69 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Zinc finger protein 423 is a protein that in humans is encoded by the ZNF423 gene. ^{[5] [6] [7]}

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. ^[7] Mice lacking the homologous gene Zfp423 have defects in midline brain development, especially in the cerebellum, ^{[8] [9] [10]} as well as defects in olfactory development, ^[11] and adipogenesis. ^{[12] [13]} Patients with mutations in ZNF423 have been reported in Joubert Syndrome and nephronophthisis. ^[14]

Interactions

ZNF423 has been shown to interact with EBF1, ^[15] PARP1, ^[16] Notch intracellular domain, ^[17] retinoic acid receptor, ^[18] and CEP290. ^[14]

References

1. GRCh38: Ensembl release 89: ENSG00000102935 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000045333 – 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. Nagase T, Ishikawa K, Suyama M, Kikuno R, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (October 1998). "Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 5 (5): 277–86. doi: 10.1093/dnares/5.5.277 . PMID   9872452.
6. Hata A, Seoane J, Lagna G, Montalvo E, Hemmati-Brivanlou A, Massagué J (January 2000). "OAZ uses distinct DNA- and protein-binding zinc fingers in separate BMP-Smad and Olf signaling pathways". Cell. 100 (2): 229–40. doi: 10.1016/S0092-8674(00)81561-5 . PMID   10660046. S2CID   6145577.
7. "Entrez Gene: ZNF423 zinc finger protein 423".
8. Warming S, Rachel RA, Jenkins NA, Copeland NG (September 2006). "Zfp423 is required for normal cerebellar development". Molecular and Cellular Biology. 26 (18): 6913–22. doi:10.1128/MCB.02255-05. PMC   1592861 . PMID   16943432.
9. Alcaraz WA, Gold DA, Raponi E, Gent PM, Concepcion D, Hamilton BA (December 2006). "Zfp423 controls proliferation and differentiation of neural precursors in cerebellar vermis formation". Proceedings of the National Academy of Sciences of the United States of America. 103 (51): 19424–9. Bibcode:2006PNAS..10319424A. doi: 10.1073/pnas.0609184103 . PMC   1748242 . PMID   17151198.
10. Cheng LE, Zhang J, Reed RR (July 2007). "The transcription factor Zfp423/OAZ is required for cerebellar development and CNS midline patterning". Developmental Biology. 307 (1): 43–52. doi:10.1016/j.ydbio.2007.04.005. PMC   2866529 . PMID   17524391.
11. Cheng LE, Reed RR (May 2007). "Zfp423/OAZ participates in a developmental switch during olfactory neurogenesis". Neuron. 54 (4): 547–57. doi:10.1016/j.neuron.2007.04.029. PMC   2866517 . PMID   17521568.
12. Gupta RK, Arany Z, Seale P, Mepani RJ, Ye L, Conroe HM, Roby YA, Kulaga H, Reed RR, Spiegelman BM (March 2010). "Transcriptional control of preadipocyte determination by Zfp423". Nature. 464 (7288): 619–23. Bibcode:2010Natur.464..619G. doi:10.1038/nature08816. PMC   2845731 . PMID   20200519.
13. Shao M, Hepler C, Vishvanath L, MacPherson KA, Busbuso NC, Gupta RK (January 2017). "Fetal development of subcutaneous white adipose tissue is dependent on Zfp423". Molecular Metabolism. 6 (1): 111–124. doi:10.1016/j.molmet.2016.11.009. PMC   5220400 . PMID   28123942.
14. Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, et al. (August 2012). "Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling". Cell. 150 (3): 533–48. doi:10.1016/j.cell.2012.06.028. PMC   3433835 . PMID   22863007.
15. Tsai RY, Reed RR (June 1997). "Cloning and functional characterization of Roaz, a zinc finger protein that interacts with O/E-1 to regulate gene expression: implications for olfactory neuronal development". The Journal of Neuroscience. 17 (11): 4159–69. doi: 10.1523/jneurosci.17-11-04159.1997 . PMC   6573535 . PMID   9151733.
16. Ku MC, Stewart S, Hata A (November 2003). "Poly(ADP-ribose) polymerase 1 interacts with OAZ and regulates BMP-target genes". Biochemical and Biophysical Research Communications. 311 (3): 702–7. Bibcode:2003BBRC..311..702K. doi:10.1016/j.bbrc.2003.10.053. PMID   14623329.
17. Masserdotti G, Badaloni A, Green YS, Croci L, Barili V, Bergamini G, Vetter ML, Consalez GG (October 2010). "ZFP423 coordinates Notch and bone morphogenetic protein signaling, selectively up-regulating Hes5 gene expression". The Journal of Biological Chemistry. 285 (40): 30814–24. doi: 10.1074/jbc.M110.142869 . PMC   2945575 . PMID   20547764.
18. Huang S, Laoukili J, Epping MT, Koster J, Hölzel M, Westerman BA, Nijkamp W, Hata A, Asgharzadeh S, Seeger RC, Versteeg R, Beijersbergen RL, Bernards R (April 2009). "ZNF423 is critically required for retinoic acid-induced differentiation and is a marker of neuroblastoma outcome". Cancer Cell. 15 (4): 328–40. doi:10.1016/j.ccr.2009.02.023. PMC   2693316 . PMID   19345331.

Further reading

• Shim S, Bae N, Han JK (July 2002). "Bone morphogenetic protein-4-induced activation of Xretpos is mediated by Smads and Olf-1/EBF associated zinc finger (OAZ)". Nucleic Acids Research. 30 (14): 3107–17. doi:10.1093/nar/gkf437. PMC   135757 . PMID   12136093.
• Robertson NG, Khetarpal U, Gutiérrez-Espeleta GA, Bieber FR, Morton CC (September 1994). "Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening". Genomics. 23 (1): 42–50. doi:10.1006/geno.1994.1457. hdl: 10669/15162 . PMID   7829101.

External links

• OAZ+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.