NOM1

Chr 7

nucleolar protein with MIF4G domain 1

Also known as: C7orf3, PPP1R113, SGD1

NCBI Gene: 64434 ENSG00000146909 UniProt: Q5C9Z4

NOM1 encodes a protein that functions in protein translation through its MIF4G and MA3 domains, which contain binding sites for ATP-dependent RNA helicases, and also targets protein phosphatase PPP1CA to the nucleolus. The gene is extremely intolerant to loss-of-function variants (pLI ~1.0), indicating that haploinsufficiency is likely incompatible with normal development. Pathogenic variants in NOM1 have not yet been established to cause a defined human disease phenotype.

ResearchSummary from RefSeq, UniProt

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, Mar 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.90

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429