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Aliases for EMG1 Gene

Aliases for EMG1 Gene

  • EMG1 N1-Specific Pseudouridine Methyltransferase 2 3 5
  • 18S RRNA (Pseudouridine(1248)-N1)-Methyltransferase 3 4
  • 18S RRNA Psi1248 Methyltransferase 3 4
  • Ribosome Biogenesis Protein NEP1 3 4
  • C2F 3 4
  • 18S RRNA (Pseudouridine-N1-)-Methyltransferase NEP1 3
  • EMG1 Nucleolar Protein Homolog (S. Cerevisiae) 2
  • EMG1 Nucleolar Protein Homolog 3
  • Essential For Mitotic Growth 1 3
  • Nucleolar Protein EMG1 Homolog 4
  • Nucleolar Essential Protein 1 3
  • Protein C2f 4
  • EC 2.1.1.- 4
  • Grcc2f 3
  • NEP1 3

External Ids for EMG1 Gene

Previous GeneCards Identifiers for EMG1 Gene

  • GC12P006951
  • GC12P006954
  • GC12P006957
  • GC12P006961
  • GC12P006964
  • GC12P006968
  • GC12P006973
  • GC12P007079
  • GC12P007146

Summaries for EMG1 Gene

Entrez Gene Summary for EMG1 Gene

  • 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]

GeneCards Summary for EMG1 Gene

EMG1 (EMG1 N1-Specific Pseudouridine Methyltransferase) is a Protein Coding gene. Diseases associated with EMG1 include bowen-conradi syndrome. Among its related pathways are Gene Expression and Ribosome biogenesis in eukaryotes. GO annotations related to this gene include poly(A) RNA binding and methyltransferase activity. An important paralog of this gene is ENSG00000268439.

UniProtKB/Swiss-Prot for EMG1 Gene

  • 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 (PubMed:20047967). Has also 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).

Gene Wiki entry for EMG1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EMG1 Gene

Genomics for EMG1 Gene

Regulatory Elements for EMG1 Gene

Promoters for EMG1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EMG1 on UCSC Golden Path with GeneCards custom track

Genomic Location for EMG1 Gene

Chromosome:
12
Start:
6,970,781 bp from pter
End:
6,979,941 bp from pter
Size:
9,161 bases
Orientation:
Plus strand

Genomic View for EMG1 Gene

Genes around EMG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EMG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EMG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EMG1 Gene

Proteins for EMG1 Gene

  • Protein details for EMG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92979-NEP1_HUMAN
    Recommended name:
    Ribosomal RNA small subunit methyltransferase NEP1
    Protein Accession:
    Q92979
    Secondary Accessions:
    • O00675
    • O00726

    Protein attributes for EMG1 Gene

    Size:
    244 amino acids
    Molecular mass:
    26720 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAB51325.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for EMG1 Gene

neXtProt entry for EMG1 Gene

Proteomics data for EMG1 Gene at MOPED

Post-translational modifications for EMG1 Gene

  • Ubiquitination at Lys 9 and Lys 37
  • Modification sites at PhosphoSitePlus

Other Protein References for EMG1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for EMG1 Gene

Domains & Families for EMG1 Gene

Protein Domains for EMG1 Gene

Suggested Antigen Peptide Sequences for EMG1 Gene

Graphical View of Domain Structure for InterPro Entry

Q92979

UniProtKB/Swiss-Prot:

NEP1_HUMAN :
  • Belongs to the class IV-like SAM-binding methyltransferase superfamily. RNA methyltransferase NEP1 family.
Family:
  • Belongs to the class IV-like SAM-binding methyltransferase superfamily. RNA methyltransferase NEP1 family.
genes like me logo Genes that share domains with EMG1: view

No data available for Gene Families for EMG1 Gene

Function for EMG1 Gene

Molecular function for EMG1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + pseudouridine(1248) in 18S rRNA = S-adenosyl-L-homocysteine + N(1)-methylpseudouridine(1248) in 18S rRNA.
UniProtKB/Swiss-Prot 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 (PubMed:20047967). Has also 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).

Enzyme Numbers (IUBMB) for EMG1 Gene

Gene Ontology (GO) - Molecular Function for EMG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0008168 methyltransferase activity IEA --
genes like me logo Genes that share ontologies with EMG1: view
genes like me logo Genes that share phenotypes with EMG1: view

Human Phenotype Ontology for EMG1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EMG1 Gene

MGI Knock Outs for EMG1:

Animal Model Products

  • Taconic Biosciences Mouse Models for EMG1

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for EMG1 Gene

Localization for EMG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EMG1 Gene

Nucleus, nucleolus.

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for EMG1 Gene

Pathways & Interactions for EMG1 Gene

genes like me logo Genes that share pathways with EMG1: view

Pathways by source for EMG1 Gene

Interacting Proteins for EMG1 Gene

Gene Ontology (GO) - Biological Process for EMG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006364 rRNA processing ISS,TAS --
GO:0032259 methylation IEA --
genes like me logo Genes that share ontologies with EMG1: view

No data available for SIGNOR curated interactions for EMG1 Gene

Drugs & Compounds for EMG1 Gene

(2) Drugs for EMG1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
S-Adenosylmethionine Approved Nutra 0
s-adenosylhomocysteine Experimental Pharma 0
genes like me logo Genes that share compounds with EMG1: view

Transcripts for EMG1 Gene

mRNA/cDNA for EMG1 Gene

(3) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EMG1 Gene

EMG1 nucleolar protein homolog (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EMG1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b
SP1: - - - -
SP2: - - - - -
SP3: - -
SP4: -
SP5: -
SP6: - -
SP7: -
SP8: -

Relevant External Links for EMG1 Gene

GeneLoc Exon Structure for
EMG1
ECgene alternative splicing isoforms for
EMG1

Expression for EMG1 Gene

mRNA expression in normal human tissues for EMG1 Gene

Protein differential expression in normal tissues from HIPED for EMG1 Gene

This gene is overexpressed in Tlymphocyte (17.3) and Peripheral blood mononuclear cells (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for EMG1 Gene



SOURCE GeneReport for Unigene cluster for EMG1 Gene Hs.744040

genes like me logo Genes that share expression patterns with EMG1: view

Protein tissue co-expression partners for EMG1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for EMG1 Gene

Orthologs for EMG1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EMG1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EMG1 35
  • 88.52 (n)
  • 91.8 (a)
EMG1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EMG1 35
  • 89.34 (n)
  • 94.26 (a)
EMG1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Emg1 35
  • 84.97 (n)
  • 88.93 (a)
Emg1 16
Emg1 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EMG1 35
  • 99.45 (n)
  • 99.18 (a)
rat
(Rattus norvegicus)
Mammalia Emg1 35
  • 85.66 (n)
  • 90.98 (a)
oppossum
(Monodelphis domestica)
Mammalia EMG1 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves EMG1 35
  • 73.74 (n)
  • 82.68 (a)
EMG1 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EMG1 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia emg1 35
  • 71.19 (n)
  • 78.73 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.25562 35
zebrafish
(Danio rerio)
Actinopterygii zgc:136360 35
  • 62.93 (n)
  • 67.24 (a)
EMG1 36
  • 67 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.389 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002808 35
  • 57.73 (n)
  • 62.98 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3527 35
  • 62.42 (n)
  • 66.18 (a)
CG3527 36
  • 55 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_Y39A1A.14 35
  • 57.37 (n)
  • 55.75 (a)
Y39A1A.14 36
  • 55 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR686C 35
  • 53.86 (n)
  • 53.71 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C01914g 35
  • 51.08 (n)
  • 52.38 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EMG1 35
  • 52.53 (n)
  • 53.68 (a)
EMG1 36
  • 49 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G57000 35
  • 53.3 (n)
  • 50 (a)
rice
(Oryza sativa)
Liliopsida Os02g0290400 35
  • 55.12 (n)
  • 53.17 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4032 35
bread mold
(Neurospora crassa)
Ascomycetes NCU02428 35
  • 54.43 (n)
  • 53.21 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mra1 35
  • 54.74 (n)
  • 56.37 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2583 36
  • 67 (a)
OneToOne
Species with no ortholog for EMG1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EMG1 Gene

ENSEMBL:
Gene Tree for EMG1 (if available)
TreeFam:
Gene Tree for EMG1 (if available)

Paralogs for EMG1 Gene

Paralogs for EMG1 Gene

genes like me logo Genes that share paralogs with EMG1: view

Variants for EMG1 Gene

Sequence variations from dbSNP and Humsavar for EMG1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_050237 -
VAR_062480 Bowen-Conradi syndrome (BWCNS)
rs7969806 -- 6,975,466(+) GCTTA(C/T)AATGA intron-variant
rs11462026 -- 6,973,012(+) TTTTT(-/T)GTGAG intron-variant
rs34615330 -- 6,973,199(+) TTTTT(-/T)GAGAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EMG1 Gene

Variant ID Type Subtype PubMed ID
nsv898641 CNV Loss 21882294
nsv509453 CNV Insertion 20534489

Variation tolerance for EMG1 Gene

Gene Damage Index Score: 2.52; 44.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EMG1 Gene

HapMap Linkage Disequilibrium report
EMG1
Human Gene Mutation Database (HGMD)
EMG1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EMG1 Gene

Disorders for EMG1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EMG1 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
bowen-conradi syndrome
  • bowen hutterite syndrome
- elite association - COSMIC cancer census association via MalaCards
Search EMG1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NEP1_HUMAN
  • 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for EMG1

Genetic Association Database (GAD)
EMG1
Human Genome Epidemiology (HuGE) Navigator
EMG1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EMG1
genes like me logo Genes that share disorders with EMG1: view

No data available for Genatlas for EMG1 Gene

Publications for EMG1 Gene

  1. Nep1p (Emg1p), a novel protein conserved in eukaryotes and archaea, is involved in ribosome biogenesis. (PMID: 11935223) Eschrich D. … Entian K.-D. (Curr. Genet. 2002) 2 3 4 23 67
  2. Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome. (PMID: 19463982) Armistead J. … Triggs-Raine B. (Am. J. Hum. Genet. 2009) 2 3
  3. Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination. (PMID: 9074930) Ansari-Lari M.A. … Gibbs R.A. (Genome Res. 1997) 2 3
  4. BioID-based Identification of Skp Cullin F-box (SCF)I^-TrCP1/2 E3 Ligase Substrates. (PMID: 25900982) Coyaud E. … Raught B. (Mol. Cell Proteomics 2015) 3
  5. PRP19 transforms into a sensor of RPA-ssDNA after DNA damage and drives ATR activation via a ubiquitin-mediated circuitry. (PMID: 24332808) Marechal A. … Zou L. (Mol. Cell 2014) 3

Products for EMG1 Gene

Sources for EMG1 Gene

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