ID:NEP1_HUMAN DESCRIPTION: RecName: Full=Ribosomal RNA small subunit methyltransferase NEP1; EC=2.1.1.-; AltName: Full=18S rRNA (pseudouridine-N1-)-methyltransferase NEP1; AltName: Full=18S rRNA Psi1248 methyltransferase; AltName: Full=Nucleolar protein EMG1 homolog; AltName: Full=Protein C2f; AltName: Full=Ribosome biogenesis protein NEP1; 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. CATALYTIC ACTIVITY: S-adenosyl-L-methionine + pseudouridine(1248) in 18S rRNA = S-adenosyl-L-homocysteine + N(1)- methylpseudouridine(1248) in 18S rRNA. SUBUNIT: Homodimer (By similarity). SUBCELLULAR LOCATION: Nucleus, nucleolus. DISEASE: Defects in EMG1 are the cause of Bowen-Conradi syndrome (BWCNS) [MIM:211180]. 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. SEQUENCE CAUTION: Sequence=AAB51325.1; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q92979
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
BC055314 - Homo sapiens EMG1 nucleolar protein homolog (S. cerevisiae), mRNA (cDNA clone MGC:62024 IMAGE:4718702), complete cds. JD093219 - Sequence 74243 from Patent EP1572962. AK298207 - Homo sapiens cDNA FLJ56921 complete cds, highly similar to Probable ribosome biogenesis protein NEP1. AK307177 - Homo sapiens cDNA, FLJ97125. AK291597 - Homo sapiens cDNA FLJ76620 complete cds, highly similar to Homo sapiens C2f protein (C2F), mRNA. AK298745 - Homo sapiens cDNA FLJ60792 complete cds, highly similar to Probable ribosome biogenesis protein NEP1. CU691116 - Synthetic construct Homo sapiens gateway clone IMAGE:100022159 5' read EMG1 mRNA. HQ447756 - Synthetic construct Homo sapiens clone IMAGE:100071087; CCSB013283_01 EMG1 nucleolar protein homolog (S. cerevisiae) (EMG1) gene, encodes complete protein. KJ893037 - Synthetic construct Homo sapiens clone ccsbBroadEn_02431 EMG1 gene, encodes complete protein. BC009856 - Homo sapiens cDNA clone IMAGE:3927564, **** WARNING: chimeric clone ****. U72514 - Human C2f mRNA, complete cds. U56253 - Human HeLa mRNA isolated as a false positive in a two-hybrid-screen. U56427 - Human HeLa mRNA isolated as a false positive in a two-hybrid-screen. KJ902105 - Synthetic construct Homo sapiens clone ccsbBroadEn_11499 hypothetical protein, encodes complete protein. JD434596 - Sequence 415620 from Patent EP1572962. JD428208 - Sequence 409232 from Patent EP1572962. JD081969 - Sequence 62993 from Patent EP1572962. JD119566 - Sequence 100590 from Patent EP1572962. JD342672 - Sequence 323696 from Patent EP1572962. JD204874 - Sequence 185898 from Patent EP1572962. JD062076 - Sequence 43100 from Patent EP1572962. JD506753 - Sequence 487777 from Patent EP1572962. JD089500 - Sequence 70524 from Patent EP1572962. JD497594 - Sequence 478618 from Patent EP1572962. DQ582446 - Homo sapiens piRNA piR-32558, complete sequence. U72507 - Human 40871 mRNA partial sequence.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q92979 (Reactome details) participates in the following event(s):
R-HSA-6790906 EMG1 of the SSU processome methylates pseudouridine-1248 of 18S rRNA yielding N(1)-methylpseudouridine-1248 R-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol R-HSA-6790901 rRNA modification in the nucleus and cytosol R-HSA-8868773 rRNA processing in the nucleus and cytosol R-HSA-72312 rRNA processing R-HSA-8953854 Metabolism of RNA
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
