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)
End	49,857,919 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	88,686,223 bp
RNA expression pattern
	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
	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
	23090
	94187
	ENSG00000102935
	ENSMUSG00000045333
	Q2M1K9
	Q80TS5
	NM_001271620; NM_015069; NM_001330533; NM_001379286
	NM_033327; NM_001310520
	NP_001258549; NP_001317462; NP_055884; NP_001366215
	NP_001297449; NP_201584
	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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000102935 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000045333 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ ^a ^b "Entrez Gene: ZNF423 zinc finger protein 423".
^ 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.
^ 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.
^ 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.
^ 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.
^ 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.
^ 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.
^ ^a ^b 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.
^ 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.
^ 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. doi:10.1016/j.bbrc.2003.10.053. PMID 14623329.
^ 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.
^ 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.

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.

This article on a gene on human chromosome 16 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000102935 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid9872452-5] 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.

[pmid10660046-6] 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.

[entrez_23090-7] "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.

[Chaki_2012-14] 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.

[pmid9151733-15] 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.

[pmid14623329-16] 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. 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.

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Interactions

References

Further reading

External links