Aliases for SNRPC Gene
External Ids for SNRPC Gene
Previous GeneCards Identifiers for SNRPC Gene
This gene encodes one of the specific protein components of the U1 small nuclear ribonucleoprotein (snRNP) particle required for the formation of the spliceosome. The encoded protein participates in the processing of nuclear precursor messenger RNA splicing. snRNP particles are attacked by autoantibodies frequently produced by patients with connective tissue diseases. The genome contains several pseudogenes of this functional gene. Alternative splicing results in a non-coding transcript variant.[provided by RefSeq, Oct 2009]
GeneCards Summary for SNRPC Gene
SNRPC (Small Nuclear Ribonucleoprotein Polypeptide C) is a Protein Coding gene. Diseases associated with SNRPC include Autoimmune Disease and Atrial Septal Defect 2. Among its related pathways are mRNA Splicing - Major Pathway and Gene Expression. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and protein homodimerization activity.
UniProtKB/Swiss-Prot Summary for SNRPC Gene
Component of the spliceosomal U1 snRNP, which is essential for recognition of the pre-mRNA 5' splice-site and the subsequent assembly of the spliceosome. SNRPC/U1-C is directly involved in initial 5' splice-site recognition for both constitutive and regulated alternative splicing. The interaction with the 5' splice-site seems to precede base-pairing between the pre-mRNA and the U1 snRNA. Stimulates commitment or early (E) complex formation by stabilizing the base pairing of the 5' end of the U1 snRNA and the 5' splice-site region.