Aliases for SNRPE Gene
External Ids for SNRPE Gene
Previous GeneCards Identifiers for SNRPE Gene
The protein encoded by this gene is a core component of U small nuclear ribonucleoproteins, which are key components of the pre-mRNA processing spliceosome. The encoded protein plays a role in the 3' end processing of histone transcripts. This protein is one of the targets in the autoimmune disease systemic lupus erythematosus, and mutations in this gene have been associated with hypotrichosis. Several pseudogenes of this gene have been identified. [provided by RefSeq, Jun 2016]
GeneCards Summary for SNRPE Gene
SNRPE (Small Nuclear Ribonucleoprotein Polypeptide E) is a Protein Coding gene. Diseases associated with SNRPE include Hypotrichosis 11 and Hypotrichosis Simplex. Among its related pathways are Processing of Capped Intronless Pre-mRNA and mRNA Splicing - Major Pathway. Gene Ontology (GO) annotations related to this gene include RNA binding.
UniProtKB/Swiss-Prot Summary for SNRPE Gene
Plays role in pre-mRNA splicing as core component of the SMN-Sm complex that mediates spliceosomal snRNP assembly and as component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:18984161, PubMed:23246290, PubMed:19325628, PubMed:23333303, PubMed:25555158, PubMed:26912367, PubMed:28502770, PubMed:28781166, PubMed:28076346). Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes (PubMed:11991638, PubMed:28502770, PubMed:28781166, PubMed:28076346). Is also a component of the minor U12 spliceosome (PubMed:15146077). As part of the U7 snRNP it is involved in histone 3'-end processing (PubMed:12975319). May indirectly play a role in hair development (PubMed:23246290).