This gene encodes an essential, conserved eukaryotic protein involved in ribosome biogenesis. In yeast, the related protein is a component of the small subunit processome and is essential for biogenesis of the ribosomal 40S subunit. A mutation in this gene has been associated with Bowen-Conradi syndrome.[provided by RefSeq, May 2010]
Function:
Involved in 40S ribosomal subunit biogenesis and 18S rRNA processing. Specifically catalyzes the N1-methylation of pseudouridine at position 1248 (Psi1248) in 18S rRNA. Thus, appears to be the methyltransferase involved in the biosynthesis of the hypermodified N1-methyl-N3-(3-amino-3-carboxypropyl) pseudouridine (m1acp3-Psi) in position 1248 in 18S rRNA. Is not able to methylate uridine at this position.
Subcellular Location:
Nucleus > nucleolus.
DISEASE:
Defects in EMG1 are the cause of Bowen-Conradi syndrome (BWCNS) [MIM:21236]. BWCNS is a combination of malformations characterized in newborns by low birth weight, microcephaly, mild joint restriction, a prominent nose, micrognathia, fifth finger clinodactyly, and 'rocker-bottom' feet. The syndrome is transmitted as an autosomal recessive trait. The prognosis is poor, with all infants dying within the first few months of life.
Similarity:
Belongs to the NEP1 family.
SWISS:
Q92979
Gene ID:
10436
Database links:
Entrez Gene: 10436 Human
Entrez Gene: 515362 Cow
Entrez Gene: 477708 Dog
Entrez Gene: 100722865 Guinea pig
Entrez Gene: 100052984 Horse
Entrez Gene: 14791 Mouse
Entrez Gene: 100627558 Pig
Entrez Gene: 312706 Rat
Omim: 611531 Human
SwissProt: Q92979 Human
SwissProt: O35130 Mouse
Unigene: 558447 Human
Unigene: 273915 Mouse
Unigene: 6390 Mouse
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