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    EMG1 EMG1 N1-specific pseudouridine methyltransferase [ Homo sapiens (human) ]

    Gene ID: 10436, updated on 10-Dec-2024

    Summary

    Official Symbol
    EMG1provided by HGNC
    Official Full Name
    EMG1 N1-specific pseudouridine methyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:16912
    See related
    Ensembl:ENSG00000126749 MIM:611531; AllianceGenome:HGNC:16912
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C2F; NEP1; Grcc2f
    Summary
    This gene encodes an essential, conserved eukaryotic protein that methylates pseudouridine in 18S rRNA. The related protein in yeast 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
    Expression
    Ubiquitous expression in appendix (RPKM 11.6), lymph node (RPKM 11.5) and 25 other tissues See more
    Orthologs
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    Genomic context

    See EMG1 in Genome Data Viewer
    Location:
    12p13.31
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (6970913..6997428)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (6984388..7010891)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (7080076..7105520)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5910 Neighboring gene MIR200C and MIR141 host gene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:7076226-7076726 Neighboring gene microRNA 141 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:7079751-7080352 Neighboring gene small Cajal body-specific RNA 12 Neighboring gene prohibitin 2 Neighboring gene lysophosphatidylcholine acyltransferase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4197 Neighboring gene ribosomal protein L37 pseudogene 20 Neighboring gene zinc finger protein 655 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Rev rev HIV-1 Rev interacting protein, EMG1 nucleolar protein homolog (EMG1), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with EMG1 is increased by RRE PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • FLJ60792

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding PubMed 
    enables RNA binding  
    enables identical protein binding PubMed 
    enables protein binding PubMed 
    enables rRNA (pseudouridine) methyltransferase activity  
    enables rRNA (pseudouridine) methyltransferase activity PubMed 
    enables rRNA binding  
    Process Evidence Code Pubs
    involved_in blastocyst development  
    involved_in nucleologenesis  
    involved_in rRNA base methylation  
    involved_in rRNA processing  
    involved_in ribosomal small subunit biogenesis PubMed 
    involved_in ribosomal small subunit biogenesis  
    Component Evidence Code Pubs
    located_in chromosome  
    located_in cytoplasm  
    located_in nucleolus  
    located_in nucleolus  
    located_in nucleoplasm  
    located_in nucleoplasm  
    is_active_in nucleus  
    located_in nucleus  
    part_of small-subunit processome  
    part_of small-subunit processome PubMed 

    General protein information

    Preferred Names
    ribosomal RNA small subunit methyltransferase NEP1
    Names
    18S rRNA (pseudouridine(1248)-N1)-methyltransferase
    18S rRNA (pseudouridine-N1-)-methyltransferase NEP1
    18S rRNA Psi1248 methyltransferase
    EMG1 nucleolar protein homolog
    essential for mitotic growth 1
    nucleolar essential protein 1
    ribosome biogenesis protein NEP1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_021408.2 RefSeqGene

      Range
      5133..14156
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001320049.2 → NP_001306978.1  ribosomal RNA small subunit methyltransferase NEP1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC006512, AI394112, BC055314, BP315329, DC403138
      UniProtKB/Swiss-Prot
      Q92979
      Conserved Domains (1) summary
      pfam03587
      Location:45 → 187
      EMG1; EMG1/NEP1 methyltransferase
    2. NM_006331.8 → NP_006322.4  ribosomal RNA small subunit methyltransferase NEP1 isoform 1

      See identical proteins and their annotated locations for NP_006322.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC006512, AI394112, BC055314, DC403138
      Consensus CDS
      CCDS73430.1
      UniProtKB/Swiss-Prot
      O00675, O00726, Q92979
      UniProtKB/TrEMBL
      A8K6D2
      Related
      ENSP00000470560.1, ENST00000599672.6
      Conserved Domains (1) summary
      cd18088
      Location:43 → 238
      Nep1-like; 18S rRNA (pseudouridine(1248)-N1)-methyltransferase Nep1

    RNA

    1. NR_135131.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon and contains three alternate 3' exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK298745, DC403138

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      6970913..6997428
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      6984388..7010891
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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