EMG1 (EMG1 N1-specific pseudouridine methyltransferase)

2014-11-01  

Identity

HGNC
LOCATION
12p13.31
LOCUSID
ALIAS
C2F,Grcc2f,NEP1
FUSION GENES

Other Information

Locus ID:

NCBI: 10436
MIM: 611531
HGNC: 16912
Ensembl: ENSG00000126749

Variants:

dbSNP: 10436
ClinVar: 10436
TCGA: ENSG00000126749
COSMIC: EMG1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000126749ENST00000261406V9GYP5
ENSG00000126749ENST00000539196A0A087WVM7
ENSG00000126749ENST00000599672Q92979
ENSG00000126749ENST00000607161A0A087WWQ2

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
Ribosome biogenesis in eukaryotesKEGGko03008
Ribosome biogenesis in eukaryotesKEGGhsa03008
Gene ExpressionREACTOMER-HSA-74160
rRNA processingREACTOMER-HSA-72312
Major pathway of rRNA processing in the nucleolus and cytosolREACTOMER-HSA-6791226
rRNA modification in the nucleus and cytosolREACTOMER-HSA-6790901
rRNA processing in the nucleus and cytosolREACTOMER-HSA-8868773

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
194639822009Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.44
277981052016Effects of the Bowen-Conradi syndrome mutation in EMG1 on its nuclear import, stability and nucleolar recruitment.11
189508452009Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study.5

Citation

Dessen P

EMG1 (EMG1 N1-specific pseudouridine methyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62818/emg1-(emg1-n1-specific-pseudouridine-methyltransferase)