Identity
HGNC
LOCATION
1q32.1
LOCUSID
ALIAS
HYPT11,SME,Sm-E,snRNP-E
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6635
MIM: 128260
HGNC: 11161
Ensembl: ENSG00000182004
Variants:
dbSNP: 6635
ClinVar: 6635
TCGA: ENSG00000182004
COSMIC: SNRPE
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000182004 | ENST00000367208 | A6NHK2 |
| ENSG00000182004 | ENST00000414487 | P62304 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31671093 | 2019 | A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing. | 12 |
| 31671093 | 2019 | A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing. | 12 |
| 23246290 | 2013 | Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. | 15 |
| 23358685 | 2013 | Targeting the deregulated spliceosome core machinery in cancer cells triggers mTOR blockade and autophagy. | 51 |
| 23246290 | 2013 | Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. | 15 |
| 23358685 | 2013 | Targeting the deregulated spliceosome core machinery in cancer cells triggers mTOR blockade and autophagy. | 51 |
| 18208561 | 2008 | Spliceosomal protein E regulates neoplastic cell growth by modulating expression of cyclin E/CDK2 and G2/M checkpoint proteins. | 13 |
| 18208561 | 2008 | Spliceosomal protein E regulates neoplastic cell growth by modulating expression of cyclin E/CDK2 and G2/M checkpoint proteins. | 13 |
| 12022225 | 2002 | Branchpoint selection in the splicing of U12-dependent introns in vitro. | 7 |
| 12022225 | 2002 | Branchpoint selection in the splicing of U12-dependent introns in vitro. | 7 |
Citation
Dessen P
SNRPE (small nuclear ribonucleoprotein polypeptide E)
Atlas Genet Cytogenet Oncol Haematol. 2008-12-01
Online version: http://atlasgeneticsoncology.org/gene/50574/snrpe
