Disease-gene associations mined from literature

Literature associating SNRPD1 and basal ganglia cerebrovascular disease

SNRPD1 [ENSP00000300413]

Small nuclear ribonucleoprotein D1 polypeptide 16kDa; 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. May act as a charged protein scaffold to promote snRNP assembly or strengthen snRNP- snRNP interactions through nonspecific electrostatic contacts with RNA.

Synonyms:  SNRPD1,  SNRPD1p,  hSNRPD1,  J3QLI9,  J3QLR7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM