Protein: Ribosomal RNA small subunit methyltransferase NEP1 (Q92979)
Organism: Homo sapiens (Human)
Function: S-adenosyl-L-methionine-dependent pseudouridine N(1)- methyltransferase that methylates pseudouridine at position 1248 (Psi1248) in 18S rRNA. Involved the biosynthesis of the hypermodified N1-methyl-N3-(3-amino-3-carboxypropyl) pseudouridine (m1acp3-Psi) conserved in eukaryotic 18S rRNA. Is not able to methylate uridine at this position. Also has an essential role in 40S ribosomal subunit biogenesis independent on its methyltransferase activity, facilitating the incorporation of ribosomal protein S19 during the formation of pre-ribosomes (By similarity). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome
Subcellular location: Nucleus, nucleolus
Sequence: MAAPSDGFKPRERSGGEQAQDWDALPPKRPRLGAGNKIGGRRLIVVLEGASLETVKVGKTYELLNCDKHKSILLKNGRDPGEARPDITHQSLLMLMDSPLNRAGLLQVYIHTQKNVLIEVNPQTRIPRTFDRFCGLMVQLLHKLSVRAADGPQKLLKVIKNPVSDHFPVGCMKVGTSFSIPVVSDVRELVPSSDPIVFVVGAFAHGKVSVEYTEKMVSISNYPLSAALTCAKLTTAFEEVWGVI
InterPro domains: - IPR005304: Ribosomal biogenesis, methyltransferase, EMG1/NEP1 (family) [12-244]
- IPR029026: tRNA (guanine-N1-)-methyltransferase, N-terminal (homologous_superfamily) [43-244]
- IPR029028: Alpha/beta knot methyltransferases (homologous_superfamily) [34-243]
Interaction partners: - Bystin
- KRR1 small subunit processome component homolog
- Nucleolar complex protein 4 homolog
- Nucleolar protein 58
- Nucleolar protein 14
- rRNA-processing protein FCF1 homolog
- WD repeat-containing protein 46
- U3 small nucleolar RNA-associated protein 4 homolog
- HEAT repeat-containing protein 1
- U3 small nucleolar RNA-associated protein 6 homolog
Gene Ontology annotations:
Molecular Function (MF): GO:0003674 (molecular function), GO:0005488 (binding), GO:0003824 (catalytic activity), GO:0016740 (transferase activity), GO:1901363 (heterocyclic compound binding), GO:0140640 (catalytic activity, acting on a nucleic acid), GO:0097159 (organic cyclic compound binding), GO:0005515 (protein binding), GO:0003676 (nucleic acid binding), GO:0140098 (catalytic activity, acting on RNA), GO:0016741 (transferase activity, transferring one-carbon groups), GO:0042802 (identical protein binding), GO:0140102 (catalytic activity, acting on a rRNA), GO:0008173 (RNA methyltransferase activity), GO:0008168 (methyltransferase activity), GO:0003723 (RNA binding), GO:0008649 (rRNA methyltransferase activity), GO:0008757 (S-adenosylmethionine-dependent methyltransferase activity)
Biological Process (BP): GO:0008150 (biological process), GO:0008152 (metabolic process), GO:0009987 (cellular process), GO:0044237 (cellular metabolic process), GO:0032259 (methylation), GO:0006807 (nitrogen compound metabolic process), GO:0071840 (cellular component organization or biogenesis), GO:0071704 (organic substance metabolic process), GO:0044238 (primary metabolic process), GO:1901360 (organic cyclic compound metabolic process), GO:0044085 (cellular component biogenesis), GO:0006139 (nucleobase-containing compound metabolic process), GO:0046483 (heterocycle metabolic process), GO:0043414 (macromolecule methylation), GO:0006725 (cellular aromatic compound metabolic process), GO:0034641 (cellular nitrogen compound metabolic process), GO:0044260 (cellular macromolecule metabolic process), GO:0043170 (macromolecule metabolic process), GO:0043412 (macromolecule modification), GO:0090304 (nucleic acid metabolic process), GO:0022613 (ribonucleoprotein complex biogenesis), GO:0001510 (RNA methylation), GO:0010467 (gene expression), GO:0042254 (ribosome biogenesis), GO:0016070 (RNA metabolic process), GO:0031167 (rRNA methylation), GO:0006396 (RNA processing), GO:0009451 (RNA modification), GO:0070475 (rRNA base methylation), GO:0034470 (ncRNA processing), GO:0000154 (rRNA modification), GO:0006364 (rRNA processing), GO:0034660 (ncRNA metabolic process), GO:0016072 (rRNA metabolic process)
Cellular Component (CC): GO:0005575 (cellular component), GO:0110165 (cellular anatomical entity), GO:0005622 (intracellular anatomical structure), GO:0043226 (organelle), GO:0031974 (membrane-enclosed lumen), GO:0005654 (nucleoplasm), GO:0043233 (organelle lumen), GO:0043229 (intracellular organelle), GO:0043227 (membrane-bounded organelle), GO:0043228 (non-membrane-bounded organelle), GO:0043231 (intracellular membrane-bounded organelle), GO:0070013 (intracellular organelle lumen), GO:0043232 (intracellular non-membrane-bounded organelle), GO:0031981 (nuclear lumen), GO:0005730 (nucleolus), GO:0005694 (chromosome), GO:0005634 (nucleus)