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Aliases for ENSG00000126749 Gene

Aliases for ENSG00000126749 Gene

  • 18S RRNA (Pseudouridine(1248)-N1)-Methyltransferase 4
  • EMG1, N1-Specific Pseudouridine Methyltransferase 5
  • 18S RRNA Psi1248 Methyltransferase 4
  • Ribosome Biogenesis Protein NEP1 4
  • Nucleolar Protein EMG1 Homolog 4
  • Protein C2f 4
  • EC 2.1.1.- 4
  • EMG1 5
  • C2F 4

External Ids for ENSG00000126749 Gene

Previous GeneCards Identifiers for ENSG00000126749 Gene

  • GC12M006975

Summaries for ENSG00000126749 Gene

GeneCards Summary for ENSG00000126749 Gene

ENSG00000126749 is a Protein Coding gene. Diseases associated with ENSG00000126749 include Bowen-Conradi Syndrome. An important paralog of this gene is EMG1.

UniProtKB/Swiss-Prot for ENSG00000126749 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).

Additional gene information for ENSG00000126749 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ENSG00000126749 Gene

Genomics for ENSG00000126749 Gene

GeneHancer (GH) Regulatory Elements for ENSG00000126749 Gene

Promoters and enhancers for ENSG00000126749 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J006967 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 677.1 -1.0 -976 5.4 FOXA2 PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 ENSG00000126749 PHB2 EMG1 ZNF384 CHD4 ENSG00000247853 NOP2 LOC100419825 LOC100420983 LOC100131676
GH12J006940 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 34.8 -17.2 -17235 25.9 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 PTPN6 C12orf57 EMG1 ZNF384 ENSG00000219410 ENSG00000247853 SPSB2 SCARNA12 NCAPD2 ENSG00000256967
GH12J006662 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 31.3 -307.7 -307666 2.2 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC ENSG00000219410 ING4 ACRBP ZNF384 CHD4 ENSG00000247853 ENSG00000126749 NCAPD2 SPSB2 SCARNA12
GH12J006923 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 25.5 -43.7 -43742 6.8 HDGF SMAD1 ARID4B SIN3A ZNF2 IRF4 YY1 ZNF213 ZNF143 FOS ATN1 ZNF384 LRRC23 CHD4 ENSG00000219410 ENSG00000247853 SCARNA12 ENSG00000126749 PHB2 RPL13P5
GH12J006762 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 21.1 -204.5 -204489 7.2 ZFP64 FEZF1 YY1 E2F8 ZNF143 SP3 NFYC MEF2D ZNF610 GLIS1 MLF2 PTMS ZNF384 ENSG00000219410 CHD4 ENSG00000247853 SPSB2 ENSG00000256967 ENSG00000126749 C1RL-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ENSG00000126749 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ENSG00000126749 Gene

Genomic Locations for ENSG00000126749 Gene
chr12:6,970,893-6,979,941
(GRCh38/hg38)
Size:
9,049 bases
Orientation:
Plus strand

Genomic View for ENSG00000126749 Gene

Genes around ENSG00000126749 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENSG00000126749 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENSG00000126749 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

No data available for RefSeq DNA sequence for ENSG00000126749 Gene

Proteins for ENSG00000126749 Gene

  • Protein details for ENSG00000126749 Gene (UniProtKB/Swiss-Prot)

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

    Protein attributes for ENSG00000126749 Gene

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

    Three dimensional structures from OCA and Proteopedia for ENSG00000126749 Gene

neXtProt entry for ENSG00000126749 Gene

Post-translational modifications for ENSG00000126749 Gene

  • Ubiquitination at isoforms=37 and Lys9
  • Modification sites at PhosphoSitePlus

Other Protein References for ENSG00000126749 Gene

ENSEMBL proteins:

No data available for DME Specific Peptides for ENSG00000126749 Gene

Domains & Families for ENSG00000126749 Gene

Protein Domains for ENSG00000126749 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 ENSG00000126749: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for ENSG00000126749 Gene

Function for ENSG00000126749 Gene

Molecular function for ENSG00000126749 Gene

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

Enzyme Numbers (IUBMB) for ENSG00000126749 Gene

Phenotypes From GWAS Catalog for ENSG00000126749 Gene

Gene Ontology (GO) - Molecular Function for ENSG00000126749 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding ISS --
GO:0005515 protein binding IPI --
GO:0008168 methyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0019843 rRNA binding IEA --
genes like me logo Genes that share ontologies with ENSG00000126749: view

Animal Model Products

Clone Products

No data available for Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ENSG00000126749 Gene

Localization for ENSG00000126749 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ENSG00000126749 Gene

Nucleus, nucleolus.

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (4)
  • Nucleus (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ENSG00000126749 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IBA --
GO:0005737 cytoplasm ISS --
GO:0032040 small-subunit processome IBA --
genes like me logo Genes that share ontologies with ENSG00000126749: view

No data available for Subcellular locations from COMPARTMENTS for ENSG00000126749 Gene

Pathways & Interactions for ENSG00000126749 Gene

SuperPathways for ENSG00000126749 Gene

No Data Available

Interacting Proteins for ENSG00000126749 Gene

Selected Interacting proteins: Q92979-NEP1_HUMAN for ENSG00000126749 Gene via IID

Gene Ontology (GO) - Biological Process for ENSG00000126749 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006364 rRNA processing TAS --
GO:0032259 methylation IEA --
GO:0042254 ribosome biogenesis IEA --
GO:0042274 ribosomal small subunit biogenesis ISS --
GO:0070475 rRNA base methylation IBA --
genes like me logo Genes that share ontologies with ENSG00000126749: view

No data available for Pathways by source and SIGNOR curated interactions for ENSG00000126749 Gene

Drugs & Compounds for ENSG00000126749 Gene

No Compound Related Data Available

Transcripts for ENSG00000126749 Gene

mRNA/cDNA for ENSG00000126749 Gene

(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ENSG00000126749 Gene

No ASD Table

Relevant External Links for ENSG00000126749 Gene

GeneLoc Exon Structure for
ENSG00000126749

Expression for ENSG00000126749 Gene

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ENSG00000126749 Gene

Orthologs for ENSG00000126749 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ENSG00000126749 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia EMG1 34
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EMG1 34
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Emg1 34
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EMG1 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves EMG1 34
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EMG1 34
  • 79 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii EMG1 34
  • 67 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG3527 34
  • 55 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y39A1A.14 34
  • 55 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EMG1 34
  • 49 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2583 34
  • 67 (a)
OneToOne
Species where no ortholog for ENSG00000126749 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ENSG00000126749 Gene

ENSEMBL:
Gene Tree for ENSG00000126749 (if available)
TreeFam:
Gene Tree for ENSG00000126749 (if available)

Paralogs for ENSG00000126749 Gene

Paralogs for ENSG00000126749 Gene

Pseudogenes.org Pseudogenes for ENSG00000126749 Gene

genes like me logo Genes that share paralogs with ENSG00000126749: view

Variants for ENSG00000126749 Gene

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for ENSG00000126749 Gene

Disorders for ENSG00000126749 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ENSG00000126749 Gene - From: GeneCards

Disorder Aliases PubMed IDs
bowen-conradi syndrome
  • bwcns
- elite association - COSMIC cancer census association via MalaCards

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.
genes like me logo Genes that share disorders with ENSG00000126749: view

No data available for Genatlas and External Links for ENSG00000126749 Gene

Publications for ENSG00000126749 Gene

  1. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H … Mohammed S (Journal of proteome research 2013) 4 58
  2. N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB. (PMID: 22814378) Van Damme P … Aldabe R (Proceedings of the National Academy of Sciences of the United States of America 2012) 4 58
  3. Initial characterization of the human central proteome. (PMID: 21269460) Burkard TR … Colinge J (BMC systems biology 2011) 4 58
  4. The ribosome assembly factor Nep1 responsible for Bowen-Conradi syndrome is a pseudouridine-N1-specific methyltransferase. (PMID: 20047967) Wurm JP … Wöhnert J (Nucleic acids research 2010) 4 58
  5. Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome. (PMID: 19463982) Armistead J … Triggs-Raine B (American journal of human genetics 2009) 4 58

Products for ENSG00000126749 Gene

Sources for ENSG00000126749 Gene

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