FEZF1

FEZ family zinc finger 1
Identifiers
Symbols	FEZF1 ; FEZ; HH22; ZNF312B
External IDs	OMIM: 613301 HomoloGene: 19252 GeneCards: FEZF1 Gene
Gene ontology Molecular function • RNA polymerase II regulatory region sequence-specific DNA binding • RNA polymerase II core promoter proximal region sequence-specific DNA binding • transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding • metal ion binding Cellular component • nucleus Biological process • negative regulation of transcription from RNA polymerase II promoter • neuron migration • transcription, DNA-templated • regulation of transcription from RNA polymerase II promoter • axon guidance • negative regulation of cell proliferation • olfactory bulb development • forebrain anterior/posterior pattern specification • positive regulation of neuron differentiation • negative regulation of transcription, DNA-templated • positive regulation of transcription, DNA-templated Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	389549	73191
Ensembl	ENSG00000128610	ENSMUSG00000029697
UniProt	A0PJY2	Q0VDQ9
RefSeq (mRNA)	NM_001024613	NM_028462
RefSeq (protein)	NP_001019784	NP_082738
Location (UCSC)	Chr 7: 122.3 – 122.31 Mb	Chr 6: 23.25 – 23.25 Mb
PubMed search

FEZ family zinc finger 1 is a protein that in humans is encoded by the FEZF1 gene. ^[1]

Clinical significance

Mutations in FEZF1 cause Kallmann Syndrome .^[2]

References

1. "Entrez Gene: FEZ family zinc finger 1". Retrieved 2014-09-09.
2. Kotan, L. D.; Hutchins, B. I.; Ozkan, Y; Demirel, F; Stoner, H; Cheng, P. J.; Esen, I; Gurbuz, F; Bicakci, Y. K.; Mengen, E; Yuksel, B; Wray, S; Topaloglu, A. K. (2014). "Mutations in FEZF1 Cause Kallmann Syndrome". The American Journal of Human Genetics 95 (3): 326–31. doi:10.1016/j.ajhg.2014.08.006. PMID 25192046.

Further reading

• Song, I. S.; Oh, N. S.; Kim, H. T.; Ha, G. H.; Jeong, S. Y.; Kim, J. M.; Kim, D. I.; Yoo, H. S.; Kim, C. H.; Kim, N. S. (2009). "Human ZNF312b promotes the progression of gastric cancer by transcriptional activation of the K-ras gene". Cancer Research 69 (7): 3131–9. doi:10.1158/0008-5472.CAN-08-2240. PMID 19318583.
• Ulrich, M; Seeber, S; Becker, C. M.; Enz, R (2007). "Tax1-binding protein 1 is expressed in the retina and interacts with the GABA(C) receptor rho1 subunit". Biochemical Journal 401 (2): 429–36. doi:10.1042/BJ20061036. PMC 1820818. PMID 16999686.
• Maestrini, E; Pagnamenta, A. T.; Lamb, J. A.; Bacchelli, E; Sykes, N. H.; Sousa, I; Toma, C; Barnby, G; Butler, H; Winchester, L; Scerri, T. S.; Minopoli, F; Reichert, J; Cai, G; Buxbaum, J. D.; Korvatska, O; Schellenberg, G. D.; Dawson, G; De Bildt, A; Minderaa, R. B.; Mulder, E. J.; Morris, A. P.; Bailey, A. J.; Monaco, A. P. (2010). "High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility". Molecular Psychiatry 15 (9): 954–68. doi:10.1038/mp.2009.34. PMC 2934739. PMID 19401682.
• Song, I. S.; Ha, G. H.; Kim, J. M.; Jeong, S. Y.; Lee, H. C.; Kim, Y. S.; Kim, Y. J.; Kwon, T. K.; Kim, N. S. (2011). "Human ZNF312b oncogene is regulated by Sp1 binding to its promoter region through DNA demethylation and histone acetylation in gastric cancer". International Journal of Cancer 129 (9): 2124–33. doi:10.1002/ijc.25871. PMID 21170990.