EMG1

Probable ribosome biogenesis protein NEP1 or EMG1 is a protein that in humans is encoded by the EMG1 gene.^[4][5][6] A D86G mutation in the protein has been associated with Bowen-Conradi syndrome.

EMG1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 5FAI
Identifiers
Aliases	EMG1, C2F, Grcc2f, NEP1, N1-specific pseudouridine methyltransferase, EMG1 N1-specific pseudouridine methyltransferase
External IDs	OMIM: 611531; MGI: 1315195; HomoloGene: 4617; GeneCards: EMG1; OMA:EMG1 - orthologs
Gene location (Mouse) Chr. Chromosome 6 (mouse)[1] Band 6 F2|6 59.17 cM Start 124,681,048 bp[1] End 124,689,141 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in islet of Langerhans stromal cell of endometrium left ventricle right adrenal gland right lobe of thyroid gland appendix left uterine tube left lobe of thyroid gland oocyte left adrenal gland Top expressed in medial ganglionic eminence mandibular prominence maxillary prominence somite endocardial cushion thymus fetal liver hematopoietic progenitor cell abdominal wall epiblast migratory enteric neural crest cell More reference expression data BioGPS More reference expression data
Gene ontology Molecular function methyltransferase activity transferase activity rRNA binding protein binding rRNA (pseudouridine) methyltransferase activity RNA binding Cellular component cytoplasm small-subunit processome nucleoplasm nucleus nucleolus Biological process rRNA base methylation methylation ribosomal small subunit biogenesis ribosome biogenesis maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) rRNA processing blastocyst development nucleologenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10436 14791 Ensembl n/a ENSMUSG00000004268 UniProt Q92979 O35130 RefSeq (mRNA) NM_006331 NM_001320049 NM_013536 RefSeq (protein) NP_001306978 NP_006322 NP_038564 Location (UCSC) n/a Chr 6: 124.68 – 124.69 Mb PubMed search [2] [3]
Wikidata
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