Emg1 EMG1 N1-specific pseudouridine methyltransferase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Emg1provided by MGI
Official Full Name: EMG1 N1-specific pseudouridine methyltransferaseprovided by MGI
Primary source: MGI:MGI:1315195
See related: Ensembl:ENSMUSG00000004268 AllianceGenome:MGI:1315195
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: C2f; Grcc2f
Summary: Predicted to enable identical protein binding activity; rRNA (pseudouridine) methyltransferase activity; and rRNA binding activity. Acts upstream of or within blastocyst development and nucleologenesis. Predicted to be located in chromosome and nucleoplasm. Predicted to be part of small-subunit processome. Predicted to be active in nucleolus. Is expressed in several structures, including brain; early conceptus; genitourinary system; gut; and integumental system. Used to study Bowen-Conradi syndrome. Human ortholog(s) of this gene implicated in Bowen-Conradi syndrome. Orthologous to human EMG1 (EMG1 N1-specific pseudouridine methyltransferase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in liver E14 (RPKM 61.4), liver E14.5 (RPKM 56.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 F2; 6 59.17 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (124681344..124689118, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (124704370..124712186, complement)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Data suggest that Essential for Mitotic Growth 1 (EMG1) deficiency caused mitotic arrest and a halt in cell growth.
Title: Growth arrest in the ribosomopathy, Bowen-Conradi syndrome, is due to dramatically reduced cell proliferation and a defect in mitotic progression.
Data demonstrate that Emg1 is highly expressed during mouse embryonic development, and essential for mouse pre-implantation development.
Title: EMG1 is essential for mouse pre-implantation embryo development.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables methyltransferase activity	IEA Inferred from Electronic Annotation more info
enables rRNA (pseudouridine) methyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables rRNA (pseudouridine) methyltransferase activity	ISO Inferred from Sequence Orthology more info
enables rRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within blastocyst development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within methylation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within nucleologenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in rRNA base methylation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within rRNA processing	IEA Inferred from Electronic Annotation more info
involved_in ribosomal small subunit biogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within ribosome biogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromosome	ISO Inferred from Sequence Orthology more info
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
part_of small-subunit processome	IBA Inferred from Biological aspect of Ancestor more info
part_of small-subunit processome	ISO Inferred from Sequence Orthology more info

General protein information

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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; gene rich cluster, C2f; nucleolar protein EMG1 homolog; probable ribosome biogenesis protein NEP1; protein C2f; ribosome biogenesis protein NEP1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001409781.1 → NP_001396710.1 ribosomal RNA small subunit methyltransferase NEP1 isoform 2

Status: VALIDATED

Source sequence(s)

AC164157
NM_001409782.1 → NP_001396711.1 ribosomal RNA small subunit methyltransferase NEP1 isoform 3

Status: VALIDATED

Source sequence(s)

AC164157
NM_001409783.1 → NP_001396712.1 ribosomal RNA small subunit methyltransferase NEP1 isoform 4

Status: VALIDATED

Source sequence(s)

AC164157
NM_001409784.1 → NP_001396713.1 ribosomal RNA small subunit methyltransferase NEP1 isoform 5

Status: VALIDATED

Source sequence(s)

AC164157
NM_001409785.1 → NP_001396714.1 ribosomal RNA small subunit methyltransferase NEP1 isoform 6

Status: VALIDATED

Source sequence(s)

AC164157
NM_001409786.1 → NP_001396715.1 ribosomal RNA small subunit methyltransferase NEP1 isoform 7

Status: VALIDATED

Source sequence(s)

AC164157
NM_013536.3 → NP_038564.1 ribosomal RNA small subunit methyltransferase NEP1 isoform 1

See identical proteins and their annotated locations for NP_038564.1

Status: VALIDATED

Source sequence(s)

AC164157

Consensus CDS

CCDS20524.1

UniProtKB/Swiss-Prot

O35130

UniProtKB/TrEMBL

Q542P8

Related

ENSMUSP00000004379.6, ENSMUST00000004379.8

Conserved Domains (1) summary

pfam03587
Location:45 → 237

EMG1; EMG1/NEP1 methyltransferase