NOM1

NOM1
Identifiers
Aliases	NOM1, C7orf3, PPP1R113, SGD1, nucleolar protein with MIF4G domain 1
External IDs	OMIM: 611269 MGI: 1861749 HomoloGene: 39776 GeneCards: NOM1
Gene location (Human)
Chr.	Chromosome 7 (human)[1]
End	156,973,176 bp[1]
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)[2]
End	29,457,843 bp[2]
Gene ontology
Molecular function	• GO:0001948 protein binding; • RNA binding;
Cellular component	• nucleolus; • cell nucleus;
Biological process	• neurogenesis; • ribosomal small subunit biogenesis; • hair follicle maturation; • biological process;
	Sources:Amigo / QuickGO
Orthologs
	64434
	433864
	ENSG00000146909
	ENSMUSG00000001569
	Q5C9Z4
	Q3UFM5
	NM_138400; NM_001353366
	NM_001033457
	NP_612409; NP_001340295
	NP_001028629
	Wikidata
View/Edit Human	View/Edit Mouse

Nucleolar protein with MIF4G domain 1 is a protein that in humans is encoded by the NOM1 gene.[5]

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 Simmons, HM; Ruis, BL; Kapoor, M; Hudacek, AW; Conklin, KF (February 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: 137–45. doi:10.1016/j.gene.2004.12.027. PMID 15715967.).[supplied by OMIM].[5]

Model organisms

*Nom1* knockout mouse phenotype
Characteristic	Phenotype
Homozygote viability	Abnormal
Recessive lethal study	Abnormal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Abnormal[6]
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Plasma immunoglobulins	Normal
Haematology	Normal
Micronucleus test	Normal
Heart weight	Normal
Skin Histopathology	Normal
Brain histopathology	Normal
Salmonella infection	Normal[7]
Citrobacter infection	Normal[8]
All tests and analysis from[9][10]

Model organisms have been used in the study of NOM1 function. A conditional knockout mouse line, called Nom1^{tm1a(KOMP)Wtsi}[11] 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.[12][13][14]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[9][15] Twenty five tests were carried out on mutant mice and three significant abnormalities were observed.[9] No homozygous mutant 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.[9]

References

GRCh38: Ensembl release 89: ENSG00000146909 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000001569 - 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.
"Entrez Gene: Nucleolar protein with MIF4G domain 1". Retrieved 2011-09-27.
"Dysmorphology data for Nom1". Wellcome Trust Sanger Institute.
"Salmonella infection data for Nom1". Wellcome Trust Sanger Institute.
"Citrobacter infection data for Nom1". Wellcome Trust Sanger Institute.
Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica. 88. doi:10.1111/j.1755-3768.2010.4142.x.
Mouse Resources Portal, Wellcome Trust Sanger Institute.
"International Knockout Mouse Consortium".
Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–263. doi:10.1038/474262a. PMID 21677718.
Collins, FS; Rossant, J; Wurst, W (January 2007). "A mouse for all reasons". Cell. 128: 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

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. PMID 10329000.
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. PMID 15715967.
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. PMID 17965019.
Alexandrov, A.; Colognori, D.; Steitz, J. A. (2011). "Human eIF4AIII interacts with an eIF4G-like partner, NOM1, revealing an evolutionarily conserved function outside the exon junction complex". Genes & Development. 25 (10): 1078–1090. doi:10.1101/gad.2045411. PMC 3093123. PMID 21576267.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000146909 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000001569 - 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.

[entrez-5] "Entrez Gene: Nucleolar protein with MIF4G domain 1". Retrieved 2011-09-27.

[Dysmorphology-6] "Dysmorphology data for Nom1". Wellcome Trust Sanger Institute.

[''Salmonella''_infection-7] "Salmonella infection data for Nom1". Wellcome Trust Sanger Institute.

[''Citrobacter''_infection-8] "Citrobacter infection data for Nom1". Wellcome Trust Sanger Institute.

[mgp_reference-9] Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica. 88. doi:10.1111/j.1755-3768.2010.4142.x.

[10] Mouse Resources Portal, Wellcome Trust Sanger Institute.

[allele_ref-11] "International Knockout Mouse Consortium".

[pmid21677750-12] Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.

[mouse_library-13] Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–263. doi:10.1038/474262a. PMID 21677718.

[mouse_for_all_reasons-14] Collins, FS; Rossant, J; Wurst, W (January 2007). "A mouse for all reasons". Cell. 128: 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.

[pmid21722353-15] van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

NOM1

Model organisms

References

Further reading