DISEASES

Disease-gene associations mined from literature

SNRPA disease associations

SNRPA [ENSP00000243563]

U1 small nuclear ribonucleoprotein A; 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. U1 snRNP is the first snRNP to interact with pre-mRNA. This interaction is required for the subsequent binding of U2 snRNP and the U4/U6/U5 tri-snRNP. SNRPA binds stem loop II of U1 snRNA. In a snRNP-free form (SF-A) may be involved in coupled pre-mRNA splicing and polyadenylation process. May bind preferentially to the 5'-UGCAC-3' motif on RNAs; Belongs to the RRM U1 A/B'' family.

Synonyms:  SNRPA,  M0QXK2,  M0QZG7,  M0R0G9,  M0R221 ...

Linkouts:  STRING  Pharos  UniProt  OMIM