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 RNA Polymerase II Transcription Termination and RNA Polymerase II Transcription Initiation And Promoter Clearance. GO annotations related to this gene include RNA binding.
UniProtKB/Swiss-Prot for SNRPE Gene
Core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. As part of the U7 snRNP it is involved in histone 3-end processing. May indirectly play a role in hair development.