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6635 SNRPE

6635

SNRPE

small nuclear ribonucleoprotein polypeptide E

protein-coding

Homo sapiens

基因描述

Type Description
Definition small nuclear ribonucleoprotein polypeptide E

研究结论

Date Results Publications
2020-02-01 13:12:00 Study reports de novo heterozygous missense mutation within the SNRPE gene disturbing appropriate spatiotemporal gene expression in the brain through aberrant mRNA splicing, and likely to cause the microcephaly phenotype. 31671093
2013-06-29 12:03:00 Overexpression of SNRPE is associated with highly aggressive breast cancers. 23358685
2013-03-16 12:23:00 Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex 23246290
2010-01-21 00:00:00 growth arrest by SmE directly correlates with the reduction of cyclin E, CDK2, CDC25C and CDC2 expression, and up-regulation of p27Kip 18208561
2010-01-21 00:00:00 In the SME intron, the position of the branchpoint A residue within the region base paired with U12 differs from that in P120 and XTF. 12022225

名称对应

Type IDs
Synonymous HYPT11, SME, Sm-E, snRNP-E
Gene
UniProtKB-ID: RUXE_HUMAN
UniprotKB: P62304
UniParc: UPI0000029B34
EMBL: M37716, AK312130, M21253, BC002639, BC090951, M21258, X12466, CH471067, M15919
Ensembl: ENSG00000182004
KO: hsa:6635
Nucleutide sequences
EMBL-CDS: CAA31007.1, AAH90951.1, AAH02639.1, AAA90926.1, EAW91494.1, AAB59365.1, AAA36621.1, BAG35066.1
Ensembl_TRS: ENST00000414487
Protein sequencees
Ensembl_PRO: ENSP00000400591
RefSeq: NP_001315567.1, NP_001291393.1, NP_001315566.1, NP_003085.1
Others
UniRef100: UniRef100_P62304
UniRef90: UniRef90_P62304
UniRef50: UniRef50_P62304
UniGene: Hs.334612, Hs.654418
CCDS: CCDS30979.1

全选

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