EMG1
entrez
10436
canonical
uniprot
Q92979
canonical
ensembl
ENSG00000126749
resolver
ensp
ENSP00000470560
resolver
enst
ENST00000599672
resolver
genesymbol
EMG1
resolver
genesymbol_syn
C2F
resolver
hgnc
HGNC:16912
resolver
uniprot
O00675
resolver
uniprot
O00726
resolver
uniprot_entry
NEP1_HUMAN
resolver
uniprot_sec
O00675
resolver
uniprot_sec
O00726
resolver
amino_acid_sequence
MAAPSDGFKPRERSGGEQAQDWDALPPKRPRLGAGNKIGGRRLIVVLEGASLETVKVGKTYELLNCDKHKSILLKNGRDPGEARPDITHQSLLMLMDSPLNRAGLLQVYIHTQKNVLIEVNPQTRIPRTFDRFCGLMVQLLHKLSVRAADGPQKLLKVIKNPVSDHFPVGCMKVGTSFSIPVVSDVRELVPSSDPIVFVVGAFAHGKVSVEYTEKMVSISNYPLSAALTCAKLTTAFEEVWGVI
uniprot
proteins
disease_involvement
DISEASE: Bowen-Conradi syndrome (BWCNS) [MIM:211180]: 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. {ECO:0000269|PubMed:19463982, ECO:0000269|PubMed:27798105}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.1.1.-
uniprot
proteins
function
FUNCTION: S-adenosyl-L-methionine-dependent pseudouridine N(1)-methyltransferase that methylates pseudouridine at position 1248 (Psi1248) in 18S rRNA (PubMed:20047967, PubMed:27798105). 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 (PubMed:20047967). 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 (PubMed:34516797). {ECO:0000250|UniProtKB:Q06287, ECO:0000269|PubMed:20047967, ECO:0000269|PubMed:27798105, ECO:0000269|PubMed:34516797}.
uniprot
proteins
mass_dalton
26720
uniprot
proteins
protein_family
Class IV-like SAM-binding methyltransferase superfamily
uniprot
proteins
protein_family
RNA methyltransferase NEP1 family
uniprot
proteins
pubmed
11935223
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19463982
uniprot
proteins
pubmed
20047967
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
27798105
uniprot
proteins
pubmed
34516797
uniprot
proteins
pubmed
9074930
uniprot
proteins
sequence_length
244
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:11935223, ECO:0000269|PubMed:27798105, ECO:0000269|PubMed:34516797}. Note=Nuclear import can be mediated by the KPNB1/IMP7 importin heterodimer. {ECO:0000269|PubMed:27798105}.
uniprot
proteins