| Type | Description |
|---|---|
| Definition | EMG1 N1-specific pseudouridine methyltransferase |
| Date | Results | Publications |
|---|---|---|
| 2017-06-10 11:38:00 | Our findings further indicate that in Bowen-Conradi syndrome, nuclear disassembly of the import complex and release of EMG1D86G lead to its nuclear aggregation and degradation, resulting in the reduced nucleolar recruitment of the RNA methyltransferase and defects in the biogenesis of the small ribosomal subunit. | 27798105 |
| 2010-01-21 00:00:00 | Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome. | 19463982 |
| 2008-11-05 21:30:00 | Observational study of gene-disease association. (HuGE Navigator) | 18950845 |
| Type | IDs |
|---|---|
| Synonymous | C2F, Grcc2f, NEP1 |
| Gene |
UniProtKB-ID:
NEP1_HUMAN
UniprotKB:
Q92979
UniParc:
UPI000012FF36
EMBL:
U47924,
BC055314,
U72514
Ensembl:
ENSG00000126749
KO:
hsa:10436
|
| Nucleutide sequences |
EMBL-CDS:
AAB51325.1,
AAC51641.1,
AAH55314.1
Ensembl_TRS:
ENST00000599672
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000470560
RefSeq:
NP_001306978.1,
NP_006322.4
|
| Others |
UniRef100:
UniRef100_Q92979
UniRef90:
UniRef90_Q92979
UniRef50:
UniRef50_Q92979
UniGene:
Hs.744040
CCDS:
CCDS73430.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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