PRPF3 gene

pre-mRNA processing factor 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The removal of introns from nuclear pre-mRNAs occurs on complexes called spliceosomes, which are made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently associated splicing factors. This gene product is one of several proteins that associate with U4 and U6 snRNPs. Mutations in this gene are associated with retinitis pigmentosa-18. [provided by RefSeq, Jul 2008]

From UniProt:

Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Retinitis pigmentosa 18

From UniProt:

Retinitis pigmentosa 18 (RP18): A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. [MIM:601414]

Cytogenetic Location: 1q21.2, which is the long (q) arm of chromosome 1 at position 21.2

Molecular Location: base pairs 150,321,468 to 150,353,228 on chromosome 1 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 1q21.2, which is the long (q) arm of chromosome 1 at position 21.2
  • HPRP3
  • HPRP3P
  • PRP3
  • Prp3p
  • RP18
  • SNRNP90