Nucleolar protein with MIF4G domain 1 is a protein that in humans is encoded by the NOM1 gene.[1]
Proteins that contain MIF4G (middle of eIF4G (MIM 600495)) and/or MA3 domains, such as NOM1, function in protein translation. These domains include binding sites for members of the EIF4A family of ATP-dependent DEAD box RNA helicases (see EIF4A1; MIM 602641) (Simmons et al., 2005 [PubMed 15715967]).[supplied by OMIM].[1]
Model organisms have been used in the study of NOM1 function. A conditional knockout mouse line, called Nom1tm1a(KOMP)Wtsi[7] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[8][9][10]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[5][11] Twenty five tests were carried out on mutant mice and three significant abnormalities were observed.[5] No homozygousmutant embryos were identified during gestation, and therefore none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice and females had an abnormal hair cycle.[5]
Heus, H. C.; Hing, A.; Van Baren, M. J.; Joosse, M.; Breedveld, G. J.; Wang, J. C.; Burgess, A.; Donnis-Keller, H.; Berglund, C.; Zguricas, J.; Scherer, S. W.; Rommens, J. M.; Oostra, B. A.; Heutink, P. (1999). "A Physical and Transcriptional Map of the Preaxial Polydactyly Locus on Chromosome 7q36". Genomics. 57 (3): 342–351. doi:10.1006/geno.1999.5796. PMID10329000.
Simmons, H. M.; Ruis, B. L.; Kapoor, M.; Hudacek, A. W.; Conklin, K. F. (2005). "Identification of NOM1, a nucleolar, eIF4A binding protein encoded within the chromosome 7q36 breakpoint region targeted in cases of pediatric acute myeloid leukemia". Gene. 347 (1): 137–145. doi:10.1016/j.gene.2004.12.027. PMID15715967.
Gunawardena, S. R.; Ruis, B. L.; Meyer, J. A.; Kapoor, M.; Conklin, K. F. (2007). "NOM1 Targets Protein Phosphatase I to the Nucleolus". Journal of Biological Chemistry. 283 (1): 398–404. doi:10.1074/jbc.M706708200. PMID17965019.
