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

Gene ID: 10436, updated on 3-May-2020

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
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

Genomic context

See EMG1 in Genome Data Viewer
Location:
12p13.31
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (6970913..6997428)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (7079944..7085165)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene MIR200C and MIR141 host gene Neighboring gene microRNA 141 Neighboring gene small Cajal body-specific RNA 12 Neighboring gene prohibitin 2 Neighboring gene lysophosphatidylcholine acyltransferase 3 Neighboring gene ribosomal protein L37 pseudogene 20 Neighboring gene zinc finger protein 655 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ60792

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
RNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
rRNA (pseudouridine) methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
rRNA (pseudouridine) methyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
rRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
blastocyst development IEA
Inferred from Electronic Annotation
more info
 
nucleologenesis IEA
Inferred from Electronic Annotation
more info
 
rRNA base methylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
rRNA processing ISS
Inferred from Sequence or Structural Similarity
more info
 
rRNA processing TAS
Traceable Author Statement
more info
 
ribosomal small subunit biogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleolus ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
small-subunit processome IBA
Inferred from Biological aspect of Ancestor
more info
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)

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_001320049.2NP_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:45187
    EMG1; EMG1/NEP1 methyltransferase
  2. NM_006331.8NP_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
    Q92979
    Related
    ENSP00000470560.1, ENST00000599672.6
    Conserved Domains (1) summary
    pfam03587
    Location:45238
    EMG1; EMG1/NEP1 methyltransferase

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
    Related
    ENST00000607161.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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